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Gene: Cdk5rap3 MGI:1933126

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Gene Summary

Name:
CDK5 regulatory subunit associated protein 3
Synonyms:
HSF-27,  C53,  OK/SW-cl.114,  1810007E24Rik,  MST016,  IC53

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IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
preweaning lethality, complete penetrance Cdk5rap3tm1b(EUCOMM)Hmgu HOM   Early adult 3.20×10-10
abnormal retina morphology Cdk5rap3tm1b(EUCOMM)Hmgu HET Early adult 5.42×10-09
abnormal retina blood vessel morphology Cdk5rap3tm1b(EUCOMM)Hmgu HET Early adult 6.58×10-09
abnormal lens morphology Cdk5rap3tm1b(EUCOMM)Hmgu HET   Early adult 4.20×10-05
persistence of hyaloid vascular system Cdk5rap3tm1b(EUCOMM)Hmgu HET Early adult 1.74×10-05
cataract Cdk5rap3tm1b(EUCOMM)Hmgu HET   Early adult 7.90×10-05
abnormal vitreous body morphology Cdk5rap3tm1b(EUCOMM)Hmgu HET   Early adult 2.54×10-07
abnormal retina vasculature morphology Cdk5rap3tm1b(EUCOMM)Hmgu HET Early adult 4.66×10-10
decreased exploration in new environment Cdk5rap3tm1b(EUCOMM)Hmgu HET Early adult 1.78×10-06
decreased cardiac stroke volume Cdk5rap3tm1b(EUCOMM)Hmgu HET Early adult 5.29×10-06
increased fasting circulating glucose level Cdk5rap3tm1b(EUCOMM)Hmgu HET Early adult 2.30×10-05

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lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

X-ray

XRay Images Whole Body Dorso Ventral

9 Images

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Electrocardiogram (ECG)

Waveform Image

44 Images

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X-ray

XRay Images Whole Body Lateral Orientation

9 Images

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Human diseases caused by Cdk5rap3 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Cdk5rap3 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Retinal Dysplasia, Primary
Retinal dysplasia, Falciform retinal fold OMIM:312550
Fetal Cytomegalovirus Syndrome
Anemia, Splenomegaly, Hepatomegaly ORPHA:294
Foveal Hypoplasia-Presenile Cataract Syndrome
Cataract, Optic atrophy ORPHA:2253
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Cataract, Chorioretinal coloboma OMIM:274205
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Cataract, Rod-cone dystrophy OMIM:300719
Glycine N-Methyltransferase Deficiency
Elevated hepatic transaminase, Hepatomegaly OMIM:606664
Iris Pigment Layer, Cleavage Of
Cataract, Peripheral retinal detachment OMIM:147610
X-Linked Retinoschisis
Retinoschisis, Cataract ORPHA:792
Wagner Vitreoretinopathy
Retinal pigment epithelial atrophy, Exudative vitreoretinopathy, Optic atrophy, Vitreoretinopathy... OMIM:143200
Diamond-Blackfan Anemia 19
Erythroid hypoplasia, Anemia, Steroid-responsive anemia OMIM:618312
Exudative Vitreoretinopathy 6
Exudative vitreoretinopathy, Posterior vitreous detachment, Cataract, Chorioretinal atrophy, Reti... OMIM:616468
Central Retinal Vein Occlusion
Abnormal anterior eye segment morphology, Macular edema, Retinal vascular tortuosity, Macular deg... ORPHA:411527
Bile Acid Synthesis Defect, Congenital, 3
Elevated circulating alanine aminotransferase concentration, Hepatic failure, Cirrhosis, Hepatiti... OMIM:613812
Cholestasis, Progressive Familial Intrahepatic, 3
Cirrhosis, Jaundice, Elevated hepatic transaminase, Portal inflammation, Portal fibrosis, Intrahe... OMIM:602347
Preeclampsia/Eclampsia 1
Thrombocytopenia, Elevated hepatic transaminase, Hypertension, Intrauterine growth retardation OMIM:189800
Coats Disease
Abnormal macular morphology, Aplasia/Hypoplasia of the iris, Cataract, Retinal detachment, Abnorm... ORPHA:190
Retinitis Pigmentosa 40
Cataract, Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blo... OMIM:613801
Birdshot Chorioretinopathy
Retinal thinning, Abnormal choroid morphology, Vitritis, Vitreous floaters, Choroidal neovascular... ORPHA:179
Gallbladder Disease 1
Hepatic fibrosis, Cholesterol gallstones, Jaundice, Pancreatitis, Elevated hepatic transaminase, ... OMIM:600803
Sclerosing Cholangitis, Neonatal
Biliary cirrhosis, Cirrhosis, Hepatic failure, Sclerosing cholangitis, Jaundice, Acholic stools, ... OMIM:617394
Congenital Bile Acid Synthesis Defect Type 3
Elevated circulating alanine aminotransferase concentration, Hepatic failure, Cirrhosis, Jaundice... ORPHA:79302
Optic Atrophy 3, Autosomal Dominant
Cataract, Optic disc pallor, Optic atrophy OMIM:165300
Exudative Vitreoretinopathy 1
Exudative vitreoretinopathy, Vitreous hemorrhage, Posterior vitreous detachment, Retinal exudate,... OMIM:133780
Biliary Atresia, Extrahepatic
Atretic gallbladder, Cirrhosis, Extrahepatic biliary duct atresia, Jaundice, Elevated hepatic tra... OMIM:210500
Exudative Vitreoretinopathy 2, X-Linked
Exudative vitreoretinopathy, Intraretinal exudate, Retinal fold, Falciform retinal fold, Retinal ... OMIM:305390
Familial Exudative Vitreoretinopathy
Macular exudate, Vitreous hemorrhage, Tractional retinal detachment, Macular edema, Falciform ret... ORPHA:891
Glycogen Storage Disease Ixc
Cirrhosis, Elevated hepatic transaminase, Increased hepatic glycogen content, Bile duct prolifera... OMIM:613027
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Hepatomegaly, Persistence of hemoglobin F ORPHA:46532
Transient Erythroblastopenia Of Childhood
Transient erythroblastopenia, Anemia OMIM:227050
Reticuloendotheliosis, X-Linked
Jaundice, Anemia, Hepatosplenomegaly OMIM:312500
Retinitis Pigmentosa 84
Rod-cone dystrophy, Macular atrophy, Bone spicule pigmentation of the retina, Attenuation of reti... OMIM:618220
Protoporphyria, Erythropoietic, X-Linked
Iron deficiency anemia, Elevated hepatic transaminase, Cholelithiasis OMIM:300752
Myopia, High, With Cataract And Vitreoretinal Degeneration
Lattice retinal degeneration, Peripheral vitreoretinal degeneration, Vitreous floaters, Lens subl... OMIM:614292
Retinitis Pigmentosa 9
Rod-cone dystrophy, Macular edema, Macular atrophy, Bone spicule pigmentation of the retina, Cata... OMIM:180104
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Retinal dystrophy, Posterior lenticonus, Microcornea, Remnants of the hyaloid vascular system, Ir... ORPHA:231736
Stickler Syndrome Type 2
Retinopathy, Cataract, Corneal opacity, Retinal detachment, Abnormal vitreous humor morphology ORPHA:90654
Cone-Rod Dystrophy 16
Rod-cone dystrophy, Cone/cone-rod dystrophy, Macular atrophy, Bone spicule pigmentation of the re... OMIM:614500
Cholestasis, Progressive Familial Intrahepatic, 8
Hepatic fibrosis, Elevated circulating alanine aminotransferase concentration, Cirrhosis, Scleros... OMIM:619662
Nephronophthisis 19
Hepatic fibrosis, Malformation of the hepatic ductal plate, Bile duct proliferation, Cholestasis,... OMIM:616217
X-Linked Sideroblastic Anemia And Spinocerebellar Ataxia
Anemia, Intrauterine growth retardation ORPHA:2802
Vitreoretinal Degeneration, Snowflake Type
Retinal dots, Corneal guttata, Snowflake vitreoretinal degeneration, Cataract, Optically empty vi... OMIM:193230
Retinitis Pigmentosa 4
Rod-cone dystrophy, Retinal atrophy, Bone spicule pigmentation of the retina, Attenuation of reti... OMIM:613731
Anemia, Congenital Dyserythropoietic, Type Ib
Anemia, Short stature, Jaundice, Erythroid hyperplasia, Reticulocytosis, Poikilocytosis, Anisocyt... OMIM:615631
Bardet-Biedl Syndrome 18
Retinal dystrophy, Cataract, Rod-cone dystrophy OMIM:615995
Leber Congenital Amaurosis 2
Optic disc pallor, Attenuation of retinal blood vessels, Cataract, Eye poking, Fundus atrophy, Ke... OMIM:204100
Cyanosis, Transient Neonatal
Anemia, Jaundice, Reticulocytosis, Hepatomegaly, Methemoglobinemia OMIM:613977
Ceroid Lipofuscinosis, Neuronal, 3
Rod-cone dystrophy, Concentric hypertrophic cardiomyopathy, Optic atrophy, Retinal degeneration, ... OMIM:204200
Anemia, Congenital Dyserythropoietic, Type Ii
Splenomegaly, Jaundice, Reticulocytosis, Reduced level of N-acetylglucosaminyltransferase II, Ane... OMIM:224100
Megalocornea
Mosaic corneal dystrophy, Megalocornea, Corneal arcus, Iris transillumination defect, Deep anteri... OMIM:309300
Leber Congenital Amaurosis 8
Choriocapillaris atrophy, Cataract, Eye poking, Chorioretinal atrophy, Keratoconus, Macular colob... OMIM:613835
Hemoglobin D Disease
Anemia, Reduced alpha/beta synthesis ratio, HbS hemoglobin, Increased HbA2 hemoglobin, Reduced he... ORPHA:90039
Hereditary Hyperferritinemia-Cataract Syndrome
Cataract ORPHA:163
Cataract 29
Cataract OMIM:115800
Cataract 35
Cataract OMIM:609376
Cataract 36
Cataract OMIM:613887
Nathalie Syndrome
Cataract, Arrhythmia ORPHA:2663
Hemochromatosis, Type 2B
Hepatic fibrosis, Anemia, Cirrhosis, Elevated hepatic transaminase, Congestive heart failure, Hep... OMIM:613313
Hemoglobin H Disease
Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hepatomegaly, Splenomegaly OMIM:613978
Cataract And Congenital Ichthyosis
Cataract OMIM:212400
Exudative Vitreoretinopathy 5
Exudative vitreoretinopathy, Tractional retinal detachment, Falciform retinal fold, Retinal exuda... OMIM:613310
Morm Syndrome
Retinal atrophy, Aggressive behavior, Cataract, Retinal dystrophy ORPHA:75858
Vitreoretinochoroidopathy
Retinal arteriolar constriction, Vitreous hemorrhage, Retinal arteriolar occlusion, Pulverulent c... OMIM:193220
Cataract 21, Multiple Types
Cortical pulverulent cataract, Macular hypoplasia, Cerulean cataract, Microcornea, Iris coloboma,... OMIM:610202
Hypertriglyceridemia, Transient Infantile
Hepatic fibrosis, Short stature, Elevated hepatic transaminase, Hepatic steatosis, Elevated gamma... OMIM:614480
X-Linked Retinal Dysplasia
Retinal dysplasia, Abnormality of retinal pigmentation, Abnormal retinal vascular morphology ORPHA:1852
Retinitis Pigmentosa 13
Rod-cone dystrophy, Optic disc drusen, Asteroid hyalosis, Retinal degeneration, Bone spicule pigm... OMIM:600059
Alpha-Thalassemia
Anemia, Splenomegaly, Hemolytic anemia, Hypersplenism, Jaundice, Abnormal hemoglobin, Cholelithia... ORPHA:846
Retinoschisis 1, X-Linked, Juvenile
Retinal pigment epithelial atrophy, Vitreous hemorrhage, Retinal atrophy, Retinal degeneration, M... OMIM:312700
Hyperbilirubinemia, Shunt, Primary
Jaundice, Erythroid hyperplasia, Reticulocytosis, Hepatomegaly, Anemia of inadequate production, ... OMIM:237800
Myopia 28, Autosomal Recessive
Retinal detachment, Cataract OMIM:619781
Erythroleukemia, Familial, Susceptibility To
Acute myeloid leukemia, Anemia, Splenomegaly, Erythroid hyperplasia, Hepatomegaly, Thrombocytopen... OMIM:133180
Microphthalmia, Isolated 5
Retinal pigment epithelial atrophy, Optic disc drusen, Foveoschisis, Bone spicule pigmentation of... OMIM:611040
Beta-Thalassemia, Dominant Inclusion Body Type
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Persistence of he... OMIM:603902
Atransferrinemia
Abnormality of the liver, Congestive heart failure, Hypochromic anemia OMIM:209300
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Hypertrophic cardiomyopathy, Cataract ORPHA:79281
Parenteral Nutrition-Associated Cholestasis
Hepatic fibrosis, Biliary hyperplasia, Cirrhosis, Hepatic failure, Splenomegaly, Jaundice, Elevat... ORPHA:567983
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Cirrhosis, Anemia, Jaundice, Elevated hepatic transaminase, Erythroid hyperplasia, Hepatosplenome... OMIM:616860
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Retinal pigment epithelial atrophy, Rod-cone dystrophy, Retinal dystrophy, Bone spicule pigmentat... OMIM:616108
Eales Disease
Iris neovascularization, Tractional retinal detachment, Ischemic stroke, Vitreous hemorrhage, Mac... ORPHA:40923
Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease
Elevated hepatic transaminase, Cholestatic liver disease OMIM:602114
Bile Acid Synthesis Defect, Congenital, 5
Hepatic failure, Hepatic fibrosis, Jaundice, Elevated hepatic transaminase, Portal fibrosis, Hepa... OMIM:616278
Congenital Bile Acid Synthesis Defect Type 1
Cirrhosis, Jaundice, Elevated hepatic transaminase, Biliary tract abnormality, Neonatal cholestat... ORPHA:79301
Caroli Syndrome
Cholangiocarcinoma, Elevated hepatic transaminase, Hepatomegaly, Hematemesis, Abnormality of the ... ORPHA:480520
Pyruvate Kinase Deficiency Of Red Cells
Splenomegaly, Jaundice, Erythroid hyperplasia, Reticulocytosis, Cholecystitis, Chronic hemolytic ... OMIM:266200
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Hyperglycemia, Optic disc pallor, Retinal thinning, Anxiety OMIM:618970
Exudative Vitreoretinopathy 7
Exudative vitreoretinopathy, Retinal fold, Retinal hole, Retinal degeneration, Retinal detachment OMIM:617572
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Elevated circulating alanine aminotransferase concentration, Howell-Jolly bodies, Portal inflamma... OMIM:613759
Isolated Biliary Atresia
Atretic gallbladder, Cirrhosis, Periportal fibrosis, Jaundice, Elevated hepatic transaminase, Ach... ORPHA:30391
Vitreoretinopathy, Neovascular Inflammatory
Large hyperpigmented retinal spots, Posterior retinal neovascularization, Vitreous hemorrhage, Pe... OMIM:193235
Sea-Blue Histiocyte Disease
Elevated circulating alanine aminotransferase concentration, Cirrhosis, Sea-blue histiocytosis, E... OMIM:269600
Thanatophoric Dysplasia, Glasgow Variant
Anemia, Neonatal death, Hepatosplenomegaly OMIM:273680
Reese Retinal Dysplasia
Retinal dysplasia, Remnants of the hyaloid vascular system OMIM:266400
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Retinal fold, Retinal dystrophy, Abnormality of retinal pigmentation, Cataract, Chorioretinal dys... OMIM:251270
Exudative Vitreoretinopathy 4
Exudative vitreoretinopathy, Vitreous hemorrhage, Tractional retinal detachment, Posterior vitreo... OMIM:601813
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Intrahepatic biliary atresia, Hepatic fibrosis, Hepatic failure, Sclerosing cholangitis, Jaundice... OMIM:607626
Microspherophakia With Hernia
Retinal detachment, Microspherophakia, Superior lens subluxation OMIM:157150
Retinal Dystrophy And Obesity
Retinal pigment epithelial atrophy, Peripapillary atrophy, Retinal dots, Retinal dystrophy, Atten... OMIM:616188
Niemann-Pick Disease, Type B
Sea-blue histiocytosis, Anemia, Short stature, Decreased acid sphingomyelinase activity, Bone-mar... OMIM:607616
Exudative Vitreoretinopathy 3
Exudative vitreoretinopathy, Retinal fold, Retinal hole, Retinal exudate, Retinal detachment OMIM:605750
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Posterior embryotoxon, Optic atrophy, Cataract, Iris coloboma, Corneal opacity, Chorioretinal col... ORPHA:1473
Leg, Absence Deformity Of, With Congenital Cataract
Optic nerve dysplasia, Progressive cataract, Developmental cataract OMIM:246000
Leber Congenital Amaurosis 1
Optic disc drusen, Attenuation of retinal blood vessels, Cataract, Eye poking, Fundus atrophy, Ke... OMIM:204000
Persistent Hyperplastic Primary Vitreous
Hemorrhage of the eye, Retinal fold, Tractional retinal detachment, Leukocoria, Macular hypoplasi... ORPHA:91495
Familial Drusen
Macular drusen, Hypoautofluorescent macular lesion, Hyperautofluorescent macular lesion, Macular ... ORPHA:75376
Cholestasis, Progressive Familial Intrahepatic, 12
Elevated circulating alanine aminotransferase concentration, Short stature, Jaundice, Elevated ci... OMIM:620010
Stickler Syndrome, Type V
Retinal detachment, Cataract, Vitreoretinopathy OMIM:614284
Corneal Dystrophy, Groenouw Type I
Granular corneal dystrophy, Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy OMIM:121900
Cataract 42
Cataract, Developmental cataract OMIM:115900
Congenital Atransferrinemia
Anemia, Abnormality of the pancreas ORPHA:1195
Dehydrated Hereditary Stomatocytosis
Intermittent jaundice, Nonspherocytic hemolytic anemia, Splenomegaly, Congenital hemolytic anemia... ORPHA:3202
Ectopia Lentis Et Pupillae
Iris transillumination defect, Ectopia lentis, Cataract, Ectopia pupillae, Retinal detachment, Pe... OMIM:225200
Autosomal Erythropoietic Protoporphyria
Decreased liver function, Cirrhosis, Cholelithiasis, Microcytic anemia ORPHA:79278
Maternally-Inherited Diabetes And Deafness
Retinopathy, Type II diabetes mellitus, Congestive heart failure, Hypertension, Abnormal choriore... ORPHA:225
Morning Glory Disc Anomaly
Retinal detachment, Cataract, Optic disc coloboma, Abnormality of retinal pigmentation ORPHA:35737
Beta-Thalassemia
Splenomegaly, Anemia, Hepatitis, Hypertrophic cardiomyopathy, Hepatomegaly, Thrombocytopenia, Abn... ORPHA:848
Norrie Disease
Retinal fold, Aggressive behavior, Optic atrophy, Leukocoria, Hypoplasia of the iris, Dementia, B... OMIM:310600
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Splenomegaly, Spontaneous hemolytic crises, Decreased glucosephosphate isomerase level, Jaundice,... OMIM:613470
Anterior Segment Dysgenesis 8
Optic nerve dysplasia, Iris transillumination defect, Persistent pupillary membrane, Hypoplasia o... OMIM:617319
Cholestasis, Progressive Familial Intrahepatic, 10
Elevated circulating alanine aminotransferase concentration, Short stature, Jaundice, Acholic sto... OMIM:619868
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Anemia, Congenital hemolytic anemia, Reticulocytosis, Poikilocytosis, Abnormal erythrocyte morpho... ORPHA:766
Diabetes And Deafness, Maternally Inherited
Type II diabetes mellitus, Retinal degeneration, Hyperglycemia, Pigmentary retinopathy, Cardiomyo... OMIM:520000
Renal-Hepatic-Pancreatic Dysplasia 1
Pancreatic cysts, Asplenia, Hepatic fibrosis, Biliary cirrhosis, Cirrhosis, Neonatal death, Polys... OMIM:208540
Hemoglobin E Disease
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Hypochromi... ORPHA:2133
Aniridia 2
Optic atrophy, Lens subluxation, Cataract, Iris coloboma, Aniridia OMIM:617141
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Leukopenia, Anemia, Hepatomegaly, Extramedullary hematopoiesis, Thrombocytopenia, Neutropenia, Sp... OMIM:615285
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Splenomegaly, Normocytic anemia, Jaundice, Reticulocytosis, Cholecystitis, Nonspherocytic hemolyt... OMIM:235700
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Retinal fold, Leukocoria, Posterior synechiae of the anterior chamber, Microcornea, Buphthalmos, ... OMIM:221900
Adult-Onset Multiple Mitochondrial Dna Deletion Syndrome Due To Dguok Deficiency
Cognitive impairment, Cataract, Dementia, Optic atrophy ORPHA:329314
Glycogen Storage Disease Vi
Increased hepatic glycogen content, Elevated hepatic transaminase, Hepatomegaly, Postnatal growth... OMIM:232700
Cataract-Microcornea Syndrome
Microcornea, Cataract, Iris coloboma, Corneal opacity, Corneal dystrophy ORPHA:1377
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Ocular anterior segment dysgenesis, Retinal dysplasia, Coloboma, Developmental cataract ORPHA:324416
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Sideroblastic anemia, Hypertension, Arrhythmia, Decreased liver function, Thrombocytopenia, Intra... OMIM:617021
Autosomal Dominant Keratitis
Coloboma, Macular hypoplasia, Limbal stem cell deficiency, Abnormal corneal limbus morphology, Co... ORPHA:2334
Meckel Syndrome, Type 3
Hepatic fibrosis, Bile duct proliferation, Malformation of the hepatic ductal plate, Hepatomegaly OMIM:607361
Retinitis Pigmentosa 2
Rod-cone dystrophy, Cataract, Chorioretinal degeneration, Fundus atrophy, Bull's eye maculopathy,... OMIM:312600
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Elevated circulating alanine aminotransferase concentration, Hepatic fibrosis, Jaundice, Elevated... OMIM:619658
Sickle Cell Anemia
Hemolytic anemia, Reticulocytosis, Persistence of hemoglobin F, Abnormality of the spleen, Iron d... ORPHA:232
Infantile Liver Failure Syndrome 1
Anemia, Elevated hepatic transaminase, Hepatic steatosis, Macrocytic anemia, Hepatomegaly, Acute ... OMIM:615438
Congenital Toxoplasmosis
Anemia, Jaundice, Elevated hepatic transaminase, Hepatomegaly, Thrombocytopenia, Intrauterine gro... ORPHA:858
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Corneal scarring, Retinal dystrophy, Macular atrophy, Buphthalmos, Cataract, Iris coloboma, Chori... OMIM:212550
Anemia, Congenital Dyserythropoietic, Type Ia
Hemolytic anemia, Mild postnatal growth retardation, Erythroid hyperplasia, Reticulocytosis, Redu... OMIM:224120
Trimethylaminuria
Anemia, Hypertension, Tachycardia, Neutropenia, Splenomegaly OMIM:602079
Preeclampsia
Elevated systolic blood pressure, Elevated hepatic transaminase, Hypertension, Polycystic ovaries... ORPHA:275555
Portal Hypertension, Noncirrhotic, 1
Portal hypertension, Elevated hepatic transaminase, Splenomegaly, Hepatomegaly OMIM:617068
Exfoliation Syndrome
Phakodonesis, Pigment deposition in the trabecular meshwork, Mydriasis, Iris hypoperfusion, Lens ... OMIM:177650
Lysosomal Acid Lipase Deficiency
Hepatosplenomegaly, Hepatic steatosis, Bone-marrow foam cells, Hepatomegaly, Thrombocytopenia, Sp... OMIM:278000
Hemophagocytic Lymphohistiocytosis, Familial, 3
Granulocytopenia, Anemia, Hemophagocytosis, Hepatosplenomegaly OMIM:608898
Retinitis Pigmentosa 86
Retinal pigment epithelial atrophy, Bone spicule pigmentation of the retina, Attenuation of retin... OMIM:618613
Coloboma, Ocular, Autosomal Dominant
Morning glory anomaly, Optic nerve aplasia, Remnants of the hyaloid vascular system, Peters anoma... OMIM:120200
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Congenital Primary Aphakia
Retinal dysplasia, Sclerocornea, Aplasia/Hypoplasia affecting the anterior segment of the eye, Co... ORPHA:83461
Senior-Loken Syndrome
Retinal dystrophy, Cataract, Hypertension, Abnormality of retinal pigmentation ORPHA:3156
Neonatal Lupus Erythematosus
Hepatic failure, Anemia, Abnormality of the liver, Neutropenia, Hemolytic anemia, Elevated hepati... ORPHA:398124
Congenital Disorder Of Glycosylation, Type Iir
Jaundice, Elevated hepatic transaminase, Decreased proportion of CD4-positive T cells, Hepatic st... OMIM:301045
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Cataract, Iris coloboma, Chorioretinal coloboma OMIM:120433
Leber Congenital Amaurosis 6
Cataract, Keratoconus, Attenuation of retinal blood vessels OMIM:613826
Portal Hypertension, Noncirrhotic, 2
Nodular regenerative hyperplasia of liver, Hepatocellular carcinoma, Elevated hepatic transaminas... OMIM:619463
Hemophagocytic Lymphohistiocytosis, Familial, 4
Anemia, Jaundice, Hemophagocytosis, Hepatomegaly, Thrombocytopenia, Neutropenia, Splenomegaly OMIM:603552
Protoporphyria, Erythropoietic, 1
Hemolytic anemia, Hepatic failure, Cholelithiasis OMIM:177000
Anemia, Hypochromic Microcytic, With Iron Overload 1
Anemia, Erythroid hyperplasia, Decreased mean corpuscular volume, Elevated hepatic iron concentra... OMIM:206100
Glycogen Storage Disease Vii
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Hemolytic anemia, Jaundice, Reticulocyt... OMIM:232800
Hemochromatosis, Type 3
Cirrhosis, Anemia, Elevated hepatic transaminase, Lymphopenia, Neutropenia, Cardiomyopathy OMIM:604250
Anemia, Congenital Dyserythropoietic, Type Iv
Anemia, Reduced hematocrit, Hemolytic anemia, Circulating nucleated red blood cells, Short statur... OMIM:613673
Acquired Idiopathic Sideroblastic Anemia
Acute myeloid leukemia, Neutropenia, Megaloblastic erythroid hyperplasia, Granulocytopenia, Normo... ORPHA:75564
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Cataract, Rod-cone dystrophy, Microcornea OMIM:619082
Myopia 17, Autosomal Dominant
Presenile cataracts, Retinal hole OMIM:608367
Beta-Thalassemia Intermedia
Pulmonary arterial hypertension, Cirrhosis, Splenomegaly, Abnormality of the liver, Increased HbA... ORPHA:231222
Aniridia-Intellectual Disability Syndrome
Cataract, Optic nerve hypoplasia, Aniridia, Ectopia lentis ORPHA:1068
Blindness-Scoliosis-Arachnodactyly Syndrome
Abnormality of retinal pigmentation, Lens subluxation, Cataract, Retinal detachment, Microphakia ORPHA:171844
Dubin-Johnson Syndrome
Jaundice, Biliary tract abnormality OMIM:237500
Anemia, Hypochromic Microcytic, With Iron Overload 2
Anemia, Poikilocytosis, Decreased mean corpuscular volume, Growth delay, Hepatomegaly, Elevated h... OMIM:615234
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Decreased mean corpuscular volume, Anemia, Sideroblastic anemia, Hypochromia OMIM:205950
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Retinal degeneration, Shallow anterior chamber, Macular atrophy, Cystoid macular degeneration OMIM:267760
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Exercise-induced hemolysis, Increased mean corpuscular hemoglobin concentration, Splenomegaly, He... OMIM:194380
Cholestasis-Lymphedema Syndrome
Cirrhosis, Jaundice, Elevated hepatic transaminase, Elevated circulating alkaline phosphatase con... OMIM:214900
Trichomegaly
Cataract OMIM:190330
Heme Oxygenase 1 Deficiency
Asplenia, Elevated circulating alanine aminotransferase concentration, Hemolytic anemia, Coombs-p... OMIM:614034
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Retinopathy, Optic atrophy, Macular atrophy, Microcornea, Cataract, Optic disc pallor OMIM:616171
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Elevated hepatic transaminase, Hepatic steatosis, Decreased liver function, Intrauterine growth r... OMIM:617093
Mirizzi Syndrome
Cholesterol gallstones, Jaundice, Pancreatitis, Elevated hepatic transaminase, Elevated circulati... ORPHA:521219
Aicardi-Goutieres Syndrome 4
Elevated hepatic transaminase, Pancytopenia, Hepatosplenomegaly, Hepatomegaly, Intrauterine growt... OMIM:610333
Dwarfism With Stiff Joints And Ocular Abnormalities
Retinal detachment, Cataract OMIM:127200
Retinitis Pigmentosa 77
Rod-cone dystrophy, Retinal atrophy, Bone spicule pigmentation of the retina, Attenuation of reti... OMIM:617304
Spherocytosis, Type 1
Hemolytic anemia, Jaundice, Reticulocytosis, Cholelithiasis, Splenomegaly, Spherocytosis OMIM:182900
3-Methylglutaconic Aciduria, Type V
Sudden cardiac death, Elevated circulating alanine aminotransferase concentration, Microvesicular... OMIM:610198
X-Linked Sideroblastic Anemia
Anemia, Elevated hepatic transaminase, Splenomegaly ORPHA:75563
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Thrombocytopenia, Abnormal hemoglobin, Splenomegaly ORPHA:231393
Hemochromatosis, Type 4
Anemia, Cirrhosis, Hepatic steatosis, Hepatomegaly, Arrhythmia, Cardiomyopathy OMIM:606069
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Sideroblastic anemia, Elevated hepatic transaminase, Hypertrophic cardiomyopathy, Growth delay, H... OMIM:613561
Cataract 9, Multiple Types
Developmental cataract, Microcornea, Cataract, Iris coloboma, Progressive cataract OMIM:604219
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Cirrhosis, Granulomatous cholangitis, Sclerosing cholangitis, Interface hepatitis, Elevated hepat... ORPHA:562639
Hereditary Elliptocytosis
Stomatocytosis, Splenomegaly, Congenital hemolytic anemia, Hemolytic anemia, Elliptocytosis, Jaun... ORPHA:288
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hepatic fibrosis, Cirrhosis, Short stature, Elevated hepatic transaminase, Hepatocellular carcino... ORPHA:369
Upper Limb Defect-Eye And Ear Abnormalities Syndrome
Cataract, Chorioretinal coloboma ORPHA:2489
Meckel Syndrome, Type 7
Pancreatic cysts, Biliary cirrhosis, Hepatosplenomegaly, Bile duct proliferation, Cholestasis, Ao... OMIM:267010
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Cataract, Rod-cone dystrophy, Retinal coloboma OMIM:601794
Congenital Bile Acid Synthesis Defect Type 2
Hepatic failure, Jaundice, Extramedullary hematopoiesis, Elevated hepatic transaminase, Abnormal ... ORPHA:79303
Congenital Disorder Of Glycosylation, Type Iio
Elevated alkaline phosphatase of bone origin, Cirrhosis, Hepatic failure, Elevated hepatic transa... OMIM:616828
Leber Congenital Amaurosis 16
Cataract, Optic disc pallor OMIM:614186
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin ORPHA:231249
Hereditary Spherocytosis
Increased mean corpuscular hemoglobin concentration, Anemia, Spontaneous hemolytic crises, Restri... ORPHA:822
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Cataract, Rod-cone dystrophy, Retinal coloboma ORPHA:363741
Bardet-Biedl Syndrome 9
Rod-cone dystrophy, Retinal degeneration, Bone spicule pigmentation of the retina, Attenuation of... OMIM:615986
Leber Congenital Amaurosis
Cataract, Keratoconus, Abnormal optic disc morphology, Abnormality of retinal pigmentation ORPHA:65
Alpha-Heavy Chain Disease
Growth delay, Anemia, Splenomegaly, Hepatomegaly ORPHA:100025
Isolated Aniridia
Cataract, Peters anomaly, Aplasia/Hypoplasia of the macula, Aniridia ORPHA:250923
Pancreatic Colipase Deficiency
Exocrine pancreatic insufficiency, Megaloblastic anemia, Cholelithiasis, Growth delay ORPHA:309108
Immunodeficiency 69
Anemia, Pancytopenia, Hepatosplenomegaly, Thrombocytosis, Leukocytosis, Splenomegaly OMIM:618963
Glycogen Storage Disease Xii
Nonspherocytic hemolytic anemia, Elevated circulating alanine aminotransferase concentration, Spl... OMIM:611881
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Anemia, Hypersplenism, Hepatomegaly, Thrombocytopenia, Splenomegaly OMIM:610539
Uveal Melanoma
Vitreous hemorrhage, Iris melanoma, Zonular cataract, Mydriasis, Abnormal fundus morphology, Cili... ORPHA:39044
Coloboma, Ocular, Autosomal Recessive
Lens subluxation, Cataract, Iris coloboma, Optic disc coloboma, Retinal coloboma OMIM:216820
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular hemoglobin concentration, Hemolytic anemia, Jaundice, Anisopoikilocyto... OMIM:616689
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Cataract, Developmental cataract OMIM:613076
Retinitis Pigmentosa
Hyperinsulinemia, Optic atrophy, Type II diabetes mellitus, Abnormality of retinal pigmentation, ... ORPHA:791
Retinitis Pigmentosa 83
Rod-cone dystrophy, Asteroid hyalosis, Vitreous floaters, Bone spicule pigmentation of the retina... OMIM:618173
Retinitis Pigmentosa 10
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels... OMIM:180105
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin, Splenomegaly, Microcytic anemia ORPHA:231242
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts
Cataract, Retinopathy OMIM:183800
Congenital Dyserythropoietic Anemia Type Iii
Anemia, Short stature, Elevated hepatic transaminase, Poikilocytosis, Abnormal erythrocyte morpho... ORPHA:98870
Nathalie Syndrome
Cataract, Abnormal EKG OMIM:255990
Mu-Heavy Chain Disease
Anemia, Abnormal B cell count, Splenomegaly, Hepatomegaly ORPHA:100024
Congenital Amegakaryocytic Thrombocytopenia
Anemia, Thrombocytopenia, Abnormal hemoglobin, Short stature ORPHA:3319
Triokinase And Fmn Cyclase Deficiency Syndrome
Elevated circulating alanine aminotransferase concentration, Dilated cardiomyopathy, Hepatic stea... OMIM:618805
Retinitis Pigmentosa 46
Rod-cone dystrophy, Attenuation of retinal blood vessels, Posterior subcapsular cataract, Optic d... OMIM:612572
Hardikar Syndrome
Elevated hepatic transaminase, Portal inflammation, Hepatosplenomegaly, Hepatomegaly, Decreased l... OMIM:301068
Cholestasis, Progressive Familial Intrahepatic, 9
Jaundice, Malformation of the hepatic ductal plate, Intrahepatic cholestasis, Fibro-obliterative ... OMIM:619849
Hepatoportal Sclerosis
Nodular regenerative hyperplasia of liver, Leukopenia, Anemia, Periportal fibrosis, Hypersplenism... ORPHA:64743
Hb Bart'S Hydrops Fetalis
Anemia, Congestive heart failure, Pericarditis, Hepatomegaly, Abnormal hemoglobin, Splenomegaly ORPHA:163596
Low Phospholipid-Associated Cholelithiasis
Biliary cirrhosis, Liver abscess, Neoplasm of the liver, Sclerosing cholangitis, Hepatocellular c... ORPHA:69663
Cholestasis, Progressive Familial Intrahepatic, 1
Cirrhosis, Splenomegaly, Short stature, Jaundice, Epistaxis, Hepatomegaly, Intrahepatic cholestas... OMIM:211600
Intermediate Uveitis
Macular edema, Vitreous haze, Posterior synechiae of the anterior chamber, Vitreous floaters, Epi... ORPHA:279914
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Retinal dystrophy, Cataract OMIM:610156
Fetal Parvovirus Syndrome
Hypertrophic cardiomyopathy, Anemia, Thrombocytopenia, Intrauterine growth retardation ORPHA:295
Disorder Of Bile Acid Synthesis
Elevated hepatic transaminase, Abnormality of the liver, Cholestasis, Biliary tract abnormality ORPHA:79168
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Poikilocytosis, Anisocytosis, Cryptorchidism, Hypochromic anemia, Abnormal lactate dehydrogenase ... ORPHA:67044
Benign Recurrent Intrahepatic Cholestasis
Cirrhosis, Jaundice, Pancreatitis, Hepatocellular carcinoma, Elevated hepatic transaminase, Achol... ORPHA:65682
Hepatorenocardiac Degenerative Fibrosis
Cirrhosis, Hypersplenism, Jaundice, Elevated hepatic transaminase, Hepatocellular carcinoma, Hepa... OMIM:619902
Retinitis Pigmentosa 56
Retinal pigment epithelial atrophy, Rod-cone dystrophy, Bone spicule pigmentation of the retina, ... OMIM:613581
Congenital Disorder Of Glycosylation, Type Iip
Hepatic steatosis, Elevated circulating alkaline phosphatase concentration, Elevated hepatic tran... OMIM:616829
Autosomal Recessive Polycystic Kidney Disease
Pancreatic cysts, Hepatic fibrosis, Biliary hyperplasia, Periportal fibrosis, Hypersplenism, Jaun... ORPHA:731
Overhydrated Hereditary Stomatocytosis
Intermittent jaundice, Stomatocytosis, Hemolytic anemia, Abnormal mean corpuscular volume, Decrea... ORPHA:3203
Combined Oxidative Phosphorylation Deficiency 37
Elevated hepatic transaminase, Elevated gamma-glutamyltransferase level, Hypertrophic cardiomyopa... OMIM:618329
Isobutyryl-Coa Dehydrogenase Deficiency
Anemia, Dilated cardiomyopathy OMIM:611283
Aniridia 1
Corneal erosion, Hypoplasia of the iris, Retinal vascular tortuosity, Chorioretinal hypopigmentat... OMIM:106210
Vitamin B12-Responsive Methylmalonic Acidemia
Anemia, Hepatomegaly ORPHA:28
Meckel Syndrome, Type 2
Bile duct proliferation, Intrauterine growth retardation OMIM:603194
Autosomal Recessive Stickler Syndrome
Retinal detachment, Astigmatism, Cataract, Vitreoretinopathy ORPHA:250984
Gilbert Syndrome
Jaundice, Hepatic failure, Elevated hepatic transaminase OMIM:143500
Microphthalmia, Isolated, With Coloboma 3
Iris coloboma, Cataract OMIM:610092
Wolman Disease
Anemia, Hepatic failure, Bone-marrow foam cells, Hepatomegaly, Growth delay, Splenomegaly ORPHA:75233
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Hepatic failure, Jaundice, Elevated hepatic transaminase, Cholestasis, Hepatomegaly OMIM:618528
Combined Oxidative Phosphorylation Deficiency 40
Anemia, Hypertrophic cardiomyopathy, Decreased liver function, Neonatal death, Intrauterine growt... OMIM:618835
Combined Oxidative Phosphorylation Deficiency 42
Anemia, Decreased liver function, Neonatal death, Intrauterine growth retardation, Cardiomyopathy OMIM:618839
Cholestasis-Lymphedema Syndrome
Cirrhosis, Jaundice, Acholic stools, Biliary tract abnormality, Neonatal cholestatic liver diseas... ORPHA:1414
Leukocyte Adhesion Deficiency, Type Iii
Anemia, Hepatosplenomegaly, Epistaxis, Leukocytosis, Extramedullary hematopoiesis, Hepatomegaly, ... OMIM:612840
Transaldolase Deficiency
Cirrhosis, Telangiectasia, Anemia, Hepatosplenomegaly, Thrombocytopenia ORPHA:101028
Osteopetrosis, Autosomal Recessive 8
Anemia, Thrombocytopenia, Splenomegaly, Hepatomegaly OMIM:615085
Retinal Dystrophy And Iris Coloboma With Or Without Congenital Cataract
Posterior synechiae of the anterior chamber, Iris coloboma, Retinal atrophy, Developmental cataract OMIM:616722
Cln3 Disease
Aggressive behavior, Memory impairment, Optic atrophy, T-wave inversion, Bull's eye maculopathy, ... ORPHA:228346
Neutropenia, Severe Congenital, 8, Autosomal Dominant
Exocrine pancreatic insufficiency, Neutropenia, Elevated hepatic transaminase, Short stature OMIM:618752
Nphp3-Related Meckel-Like Syndrome
Abnormal biliary tract morphology, Abnormality of the pancreas, Abnormal liver parenchyma morphology ORPHA:3032
Retinitis Pigmentosa 25
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels... OMIM:602772
Flynn-Aird Syndrome
Cataract, Rod-cone dystrophy, Dementia OMIM:136300
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Retinal fold, Aggressive behavior, Optic atrophy, Microcornea, Astigmatism, Cataract, Corneal opa... OMIM:152950
Vogt-Koyanagi-Harada Disease
Retinal detachment, Cataract, Cognitive impairment ORPHA:3437
Hepatitis, Fulminant Viral, Susceptibility To
Hepatic failure, Fulminant hepatitis, Jaundice, Elevated hepatic transaminase, Hepatomegaly OMIM:618549
Osteopetrosis, Autosomal Recessive 4
Anemia, Reticulocytosis, Growth delay, Hepatomegaly, Thrombocytopenia, Splenomegaly OMIM:611490
Sickle Cell Disease
Hemolytic anemia, Target cells, Jaundice, Splenic infarction, Increased red cell sickling tendenc... OMIM:603903
Intellectual Developmental Disorder And Retinitis Pigmentosa
Peripapillary atrophy, Macular degeneration, Bone spicule pigmentation of the retina, Attenuation... OMIM:618195
Spherocytosis, Type 5
Hemolytic anemia, Jaundice, Reticulocytosis, Abnormal platelet count, Abnormal leukocyte count, S... OMIM:612690
Rh Deficiency Syndrome
Stomatocytosis, Hemolytic anemia, Jaundice, Reticulocytosis, Hepatosplenomegaly, Anisocytosis, Ma... ORPHA:71275
Alpha-1-Antitrypsin Deficiency
Elevated hepatic transaminase, Cirrhosis, Hepatocellular carcinoma, Splenomegaly OMIM:613490
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome
Nodular regenerative hyperplasia of liver, Elevated hepatic transaminase, Hepatosplenomegaly, Thr... ORPHA:210136
Peroxisome Biogenesis Disorder 9B
Cataract, Rod-cone dystrophy, Cardiomyopathy OMIM:614879
Schnitzler Syndrome
Anemia, Leukocytosis, Hepatomegaly, Splenomegaly, Vasculitis ORPHA:37748
Enhanced S-Cone Syndrome
Macular edema, Vitreoretinopathy, Retinoschisis, Cataract, Pigmentary retinopathy OMIM:268100
Meckel Syndrome, Type 4
Bile duct proliferation, Intrauterine growth retardation OMIM:611134
Leishmaniasis
Leukopenia, Anemia, Abnormal macrophage morphology, Elevated hepatic transaminase, Pancytopenia, ... ORPHA:507
Rajab Interstitial Lung Disease With Brain Calcifications 1
Cirrhosis, Anemia, Short stature, Elevated hepatic transaminase, Pancytopenia, Hepatic steatosis,... OMIM:613658
Hyperbiliverdinemia
Decreased liver function, Cholestasis, Cholelithiasis OMIM:614156
Congenital Disorder Of Glycosylation, Type Iiw
Elevated circulating alanine aminotransferase concentration, Anemia, Increased hepatic echogenici... OMIM:619525
Osteopetrosis, Autosomal Dominant 3
Hyperparathyroidism, Anemia, Splenomegaly, Hepatomegaly OMIM:618107
Caroli Disease
Hepatic fibrosis, Elevated circulating alanine aminotransferase concentration, Biliary cirrhosis,... ORPHA:53035
Bile Acid Synthesis Defect, Congenital, 2
Hepatic failure, Jaundice, Elevated hepatic transaminase, Intrahepatic cholestasis, Elevated circ... OMIM:235555
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute myeloid leukemia, Hepatic failure, Anemia, Reduced natural killer cell count, Elevated hepa... ORPHA:158057
Wilson Disease
Cirrhosis, Anemia, Hepatitis, Jaundice, Elevated hepatic transaminase, Hepatic steatosis, Thrombo... ORPHA:905
Oculopalatocerebral Syndrome
Leukocoria, Remnants of the hyaloid vascular system OMIM:257910
Rhabdoid Tumor
Anemia, Neoplasm of the liver, Hypertension, Internal hemorrhage, Thrombocytopenia ORPHA:69077
Optic Nerve Hypoplasia, Bilateral
Remnants of the hyaloid vascular system, Morning glory anomaly, Optic nerve aplasia, Optic nerve ... OMIM:165550
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type)
Cataract, Macular degeneration, Mental deterioration OMIM:619780
Cardiomyopathy, Dilated, 1Ii
Dilated cardiomyopathy, Increased left ventricular end-diastolic volume, Cataract, Ventricular ta... OMIM:615184
Cataract 11, Multiple Types
Cataract, Developmental cataract OMIM:610623
Congenital Rubella Syndrome
Anemia, Short stature, Jaundice, Hepatomegaly, Intrauterine growth retardation, Thrombocytopenia,... ORPHA:290
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Telangiectasia, Cognitive impairment, Macular edema, Punctate vasculitis skin lesions, Raynaud ph... ORPHA:247691
Cholestasis, Benign Recurrent Intrahepatic, 2
Jaundice, Intrahepatic cholestasis, Elevated circulating alkaline phosphatase concentration, Hepa... OMIM:605479
Coach Syndrome 3
Anemia, Portal fibrosis OMIM:619113
Transaldolase Deficiency
Hepatic fibrosis, Cirrhosis, Anemia, Telangiectasia, Pancytopenia, Hepatosplenomegaly, Micronodul... OMIM:606003
Infantile Spasms-Broad Thumbs Syndrome
Hypertrophic cardiomyopathy, Cataract, Optic disc pallor ORPHA:3173
Glycogen Storage Disease Ixa1
Growth delay, Elevated hepatic transaminase, Splenomegaly, Hepatomegaly OMIM:306000
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Anemia, Growth delay, Hepatomegaly, Thrombocytopenia, Neutropenia, Pancreatitis ORPHA:289916
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Anemia, Reticulocytopenia, Dysplastic erythropoesis, Anisopoikilocytosis, Elevated hepatic transa... ORPHA:300298
Vitamin B12-Unresponsive Methylmalonic Acidemia
Leukopenia, Anemia, Macrocytic anemia, Hepatomegaly, Thrombocytopenia, Pancreatitis, Cardiomyopathy ORPHA:27
Joubert Syndrome 6
Hepatic fibrosis, Bile duct proliferation OMIM:610688
Alpha-Methylacyl-Coa Racemase Deficiency
Cataract, Rod-cone dystrophy, Pigmentary retinopathy OMIM:614307
Stickler Syndrome, Type Ii
Retinal detachment, Cataract, Abnormal vitreous humor morphology OMIM:604841
Linear Verrucous Nevus Syndrome
Retinopathy, Iris coloboma, Abnormal cornea morphology, Cataract, Aplasia/Hypoplasia of the fovea... ORPHA:2611
Meckel Syndrome, Type 5
Bile duct proliferation OMIM:611561
Macrophage Activation Syndrome
Abnormal natural killer cell count, Elevated circulating alanine aminotransferase concentration, ... ORPHA:158061
Meckel Syndrome, Type 6
Absent gallbladder, Hepatic fibrosis, Bile duct proliferation, Hepatic cysts, Cystic liver disease OMIM:612284
Bleeding Disorder, Platelet-Type, 19
Epistaxis, Anemia, Thrombocytopenia, Macrothrombocytopenia OMIM:616176
Cataract 47
Glycosuria, Cataract, Microcornea OMIM:612018
Relapsing Fever
Hypotension, Leukopenia, Anemia, Jaundice, Neutrophilia, Elevated hepatic transaminase, Epistaxis... ORPHA:91547
Diffuse Neonatal Hemangiomatosis
Anemia, Thrombocytopenia, Hepatomegaly ORPHA:2123
Bile Acid Conjugation Defect 1
Elevated circulating alanine aminotransferase concentration, Hepatic failure, Jaundice, Elevated ... OMIM:619232
Hereditary Hemorrhagic Telangiectasia
Pulmonary arterial hypertension, Pulmonary embolism, Hepatic failure, Cirrhosis, Mucosal telangie... ORPHA:774
Overhydrated Hereditary Stomatocytosis
Stomatocytosis, Hemolytic anemia, Jaundice, Reticulocytosis, Hepatomegaly, Splenomegaly OMIM:185000
Myh9-Related Disease
Spontaneous, recurrent epistaxis, Elevated hepatic transaminase, Myocardial infarction, Giant pla... ORPHA:182050
Cholestasis, Intrahepatic, Of Pregnancy, 1
Jaundice, Elevated hepatic transaminase, Abnormal liver function tests during pregnancy, Intrahep... OMIM:147480
Gyrate Atrophy Of Choroid And Retina
Abnormal macular morphology, Chorioretinal hyperpigmentation, Cataract, Chorioretinal atrophy, Ch... ORPHA:414
Pierson Syndrome
Retinal hemorrhage, Microcoria, Rieger anomaly, Hypoplasia of the ciliary body, Macular hypoplasi... OMIM:609049
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Anemia, Abnormality of the pancreas, Abnormal testis morphology, Liver abscess, Neutrophilia, Ele... ORPHA:54251
Primary Myelofibrosis
Anemia, Extramedullary hematopoiesis, Pancytopenia, Hepatosplenomegaly, Poikilocytosis, Thrombocy... ORPHA:824
Stickler Syndrome Type 1
Retinal detachment, Cataract, Abnormal vitreous humor morphology ORPHA:90653
Refsum Disease, Classic
Rod-cone dystrophy, Retinal degeneration, Congestive heart failure, Cataract, Arrhythmia, Cardiom... OMIM:266500
Congenital Bile Acid Synthesis Defect Type 4
Memory impairment, Type II diabetes mellitus, Cataract, Mental deterioration, Hematochezia, Pigme... ORPHA:79095
Retinitis Pigmentosa 43
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels... OMIM:613810
Aggressive Systemic Mastocytosis
Hypotension, Anemia, Elevated total serum tryptase, Hypersplenism, Pancytopenia, Hepatosplenomega... ORPHA:98850
Congenital Disorder Of Glycosylation, Type Ih
Anemia, Cholestasis, Hepatomegaly, Cryptorchidism, Decreased liver function, Thrombocytopenia, Ne... OMIM:608104
Oculoauricular Syndrome
Rod-cone dystrophy, Morning glory anomaly, Posterior embryotoxon, Cone/cone-rod dystrophy, Poster... OMIM:612109
Telangiectasia, Hereditary Hemorrhagic, Type 5
Spontaneous, recurrent epistaxis, Portal hypertension, Telangiectasia, Elevated hepatic transaminase OMIM:615506
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Anemia, Pancreatitis, Hepatomegaly, Thrombocytopenia, Neutropenia, Splenomegaly, Cardiomyopathy ORPHA:79312
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Persistent fetal circulation, Hypertrophic cardiomyopathy, Intrauterine growth retardation, Throm... OMIM:618775
Formiminoglutamic Aciduria
Anemia, Megaloblastic anemia, Abnormal circulating enzyme concentration or activity ORPHA:51208
Maturity-Onset Diabetes Of The Young, Type 10
Diabetic ketoacidosis, Diabetes mellitus, Hyperglycemia, Maturity-onset diabetes of the young OMIM:613370
Gaucher Disease, Type I
Pulmonary arterial hypertension, Anemia, Hypersplenism, Hypertension, Pancytopenia, Epistaxis, Mi... OMIM:230800
Diamond-Blackfan Anemia 9
Anemia, Growth delay OMIM:613308
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness
Cataract, Retinal thinning, Asteroid hyalosis OMIM:132450
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Pulmonary embolism, Hypertension, Congestive heart failure, Hypertrophic cardiomyopathy, Cataract... ORPHA:1345
Diamond-Blackfan Anemia 16
Anemia, Pulmonic stenosis OMIM:617408
Infantile Liver Failure Syndrome 3
Short stature, Jaundice, Elevated hepatic transaminase, Hepatic bridging fibrosis, Hepatic steato... OMIM:618641
Rajab Interstitial Lung Disease With Brain Calcifications 2
Short stature, Hypopituitarism, Elevated hepatic transaminase, Hepatosplenomegaly, Hepatic steato... OMIM:619013
Hemolytic Anemia, Congenital, X-Linked
Jaundice, Hemolytic anemia OMIM:301015
Congenital Muscular Dystrophy, Fukuyama Type
Retinal dysplasia, Cataract, Dilated cardiomyopathy, Optic atrophy ORPHA:272
Budd-Chiari Syndrome
Cirrhosis, Jaundice, Peritonitis, Elevated hepatic transaminase, Cholecystitis, Hepatomegaly, Gas... ORPHA:131
3-Methylglutaconic Aciduria Type 4
Cardiomyopathy, Iris hypopigmentation, Cataract, Hypoglycemia ORPHA:67048
Retinitis Pigmentosa 60
Retinal pigment epithelial atrophy, Rod-cone dystrophy, Bone spicule pigmentation of the retina, ... OMIM:613983
Eosinophilia, Familial
Anemia, Thrombocytopenia, Leukocytosis, Eosinophilia OMIM:131400
Achondrogenesis Type 2
Retinal detachment, Lens subluxation, Abnormal vitreous humor morphology, Cataract ORPHA:93296
Bile Acid Synthesis Defect, Congenital, 1
Hepatic failure, Cirrhosis, Jaundice, Elevated hepatic transaminase, Acholic stools, Intrahepatic... OMIM:607765
Hydrops Fetalis, Nonimmune
Anemia, Congestive heart failure OMIM:236750
Immunodeficiency 102
Nodular regenerative hyperplasia of liver, Leukopenia, Anemia, Reduced natural killer cell count,... OMIM:301082
Fanconi Anemia, Complementation Group G
Anemia, Growth delay, Thrombocytopenia, Neutropenia, Leukemia OMIM:614082
Coach Syndrome 2
Hepatic fibrosis, Elevated hepatic transaminase, Hypertension, Portal fibrosis, Congenital hepati... OMIM:619111
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Pancreatic cysts, Hepatic fibrosis, Pulmonary insufficiency, Short stature, Jaundice, Polycystic ... OMIM:208500
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Type II diabetes mellitus, Cataract, Hyperinsulinemia, Abnormality of retinal pigmentation ORPHA:3085
D-Bifunctional Protein Deficiency
Elevated hepatic transaminase, Hepatic steatosis, Bile duct proliferation, Cholestasis, Hepatomeg... OMIM:261515
Nance-Horan Syndrome
Retinal detachment, Cataract, Microcornea ORPHA:627
Amoebic Keratitis
Abnormal anterior chamber morphology, Abnormal corneal epithelium morphology, Corneal stromal ede... ORPHA:67043
Hypermanganesemia With Dystonia 1
Cirrhosis, Elevated hepatic transaminase, Polycythemia, Hepatomegaly, Decreased liver function OMIM:613280
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Retinal detachment, Cataract, Optic nerve hypoplasia OMIM:615181
Immunodeficiency 32B
Anemia, Monocytopenia, Neutrophilia, Hepatomegaly, Eosinophilia, Impaired oxidative burst, Thromb... OMIM:226990
Combined Immunodeficiency-Enteropathy Spectrum
Peritoneal abscess, Hypoplasia of the thymus, Hepatitis, Autoimmune hemolytic anemia, Abnormality... ORPHA:436252
Delta-Beta-Thalassemia
Anemia, Abnormal hemoglobin, Microcytic anemia ORPHA:231237
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Anemia, Hepatosplenomegaly, Hemophagocytosis, Thrombocytopenia, Splenomegaly OMIM:613101
Maturity-Onset Diabetes Of The Young, Type 3
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:600496
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Elevated hepatic transaminase, Dilated cardiomyopathy, Ventricular tachycardia, Hepatomegaly, Inc... OMIM:600649
Propionic Acidemia
Cerebellar hemorrhage, Anemia, Short stature, Pancytopenia, Propionyl-CoA carboxylase deficiency,... OMIM:606054
Triosephosphate Isomerase Deficiency
Hemolytic anemia, Normocytic anemia, Jaundice, Congestive heart failure, Cholecystitis, Chronic h... OMIM:615512
Isolated Sedoheptulokinase Deficiency
Anemia, Short stature, Hepatitis, Hypochromic microcytic anemia, Cholestasis, Cholestatic liver d... ORPHA:440713
Severe Early-Childhood-Onset Retinal Dystrophy
Retinal pigment epithelial atrophy, Optic disc drusen, Abnormal macular morphology, Posterior syn... ORPHA:364055
Bile Acid Synthesis Defect, Congenital, 4
Hepatic failure, Elevated hepatic transaminase, Elevated circulating aspartate aminotransferase c... OMIM:214950
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Cataract, Rod-cone dystrophy, Subcapsular cataract, Optic atrophy OMIM:612674
Oculo-Palato-Cerebral Syndrome
Leukocoria, Remnants of the hyaloid vascular system, Cataract, Retinal detachment ORPHA:2714
Spherocytosis, Type 2
Hemolytic anemia, Jaundice, Reticulocytosis, Splenomegaly, Acanthocytosis, Spherocytosis OMIM:616649
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatic fibrosis, Cirrhosis, Anemia, Short stature, Elevated hepatic transaminase, Abnormal eryth... ORPHA:264580
Interstitial Lung And Liver Disease
Elevated circulating alanine aminotransferase concentration, Hepatic fibrosis, Cirrhosis, Hepatic... OMIM:615486
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Rod-cone dystrophy, Optic atrophy, Glycosuria, Bone spicule pigmentation of the retina, Cataract,... OMIM:268315
Spherocytosis, Type 4
Hemolytic anemia, Jaundice, Reticulocytosis, Splenomegaly, Spherocytosis OMIM:612653
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 1
Anemia, Cirrhosis, Myeloid leukemia, Pancytopenia, Aplastic anemia OMIM:614742
Acute Erythroid Leukemia
Erythroid hypoplasia, Leukopenia, Anemia, Pancytopenia ORPHA:318
Cholestasis, Progressive Familial Intrahepatic, 6
Periportal fibrosis, Elevated hepatic transaminase, Intrahepatic cholestasis, Elevated circulatin... OMIM:619484
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Hepatic fibrosis, Cirrhosis, Elevated hepatic transaminase, Hepatocellular carcinoma, Abnormal er... ORPHA:370
Chromosome Xp11.3 Deletion Syndrome
Rod-cone dystrophy, Optic atrophy, Attenuation of retinal blood vessels, Posterior subcapsular ca... OMIM:300578
Mitochondrial Complex I Deficiency, Nuclear Type 20
Hepatic failure, Microvesicular hepatic steatosis, Elevated hepatic transaminase, Congestive hear... OMIM:611126
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Hepatic failure, Microvesicular hepatic steatosis, Jaundice, Elevated hepatic transaminase, Micro... OMIM:203700
Cranioectodermal Dysplasia 2
Biliary cirrhosis, Rhizomelia, Short stature, Polysplenia, Elevated hepatic transaminase, Hyperte... OMIM:613610
Liver Disease, Severe Congenital
Systolic heart murmur, Elevated hepatic transaminase, Portal inflammation, Hepatic steatosis, Abn... OMIM:619991
Stormorken-Sjaastad-Langslet Syndrome
Asplenia, Anemia, Short stature ORPHA:3204
Chromosome 16Q12 Duplication Syndrome
Anisocoria, Cataract, Temporal optic disc pallor, Retinal pigment epithelial mottling OMIM:619649
Cystic Echinococcosis
Ovarian cyst, Peritoneal abscess, Abnormality of the pancreas, Abnormality of the testis size, Ja... ORPHA:400
Gaucher Disease Type 1
Pulmonary arterial hypertension, Leukopenia, Cirrhosis, Anemia, Hypersplenism, Pancytopenia, Bili... ORPHA:77259
Anterior Segment Dysgenesis 2
Coloboma, Posterior synechiae of the anterior chamber, Aniridia, Microcornea, Cataract, Peters an... OMIM:610256
Lymphoproliferative Syndrome 1
Leukopenia, Anemia, Pancytopenia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Hepat... OMIM:613011
Elliptocytosis 3
Intermittent jaundice, Elliptocytosis, Decreased mean corpuscular volume, Chronic hemolytic anemi... OMIM:617948
Hemochromatosis, Type 1
Cirrhosis, Telangiectasia, Elevated hepatic transaminase, Hepatocellular carcinoma, Congestive he... OMIM:235200
Woolly Hair
Abnormal pupil morphology, Cataract, Abnormal retinal morphology ORPHA:170
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Cataract, Aniridia, Microcornea OMIM:106230
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Abnormal natural killer cell count, Anemia, Pulmonary hemorrhage, T lymphocytopenia, Jaundice, El... ORPHA:79124
Beta-Thalassemia Major
Hepatocellular carcinoma, Hepatosplenomegaly, Hypoparathyroidism, Hepatomegaly, Splenomegaly, Hig... ORPHA:231214
Infantile Refsum Disease
Rod-cone dystrophy, Optic atrophy, Cataract, Arrhythmia, Cardiomyopathy ORPHA:772
Anterior Segment Dysgenesis 7
Ocular anterior segment dysgenesis, Anterior synechiae of the anterior chamber, Microcornea, Buph... OMIM:269400
Coats Disease
Leukocoria, Exudative retinal detachment, Retinal telangiectasia OMIM:300216
Carnitine Palmitoyl Transferase 1A Deficiency
Sudden cardiac death, Hepatic failure, Elevated hepatic transaminase, Hypertrophic cardiomyopathy... ORPHA:156
Stormorken Syndrome
Asplenia, Anemia, Howell-Jolly bodies, Short stature, Hypoplastic spleen, Epistaxis, Increased ci... OMIM:185070
Congenital Enterovirus Infection
Hypotension, Leukopenia, Hepatic failure, Anemia, Myocarditis, Abnormal macrophage morphology, He... ORPHA:292
Isolated Ectopia Lentis
Cognitive impairment, Hypertension, Ectopia lentis, Cataract, Ectopia pupillae ORPHA:1885
Prolidase Deficiency
Anemia, Prolonged neonatal jaundice, Elevated circulating aspartate aminotransferase concentratio... OMIM:170100
Idiopathic Panuveitis
Vitreous haze, Posterior synechiae of the anterior chamber, Vitreous floaters, Choroidal neovascu... ORPHA:280921
Anemia, Sideroblastic, 5
Anemia, Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Neutropenia OMIM:619523
Posterior Column Ataxia With Retinitis Pigmentosa
Rod-cone dystrophy, Optic atrophy, Bone spicule pigmentation of the retina, Attenuation of retina... OMIM:609033
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatic failure, Periportal fibrosis, Hepatocellular necrosis, Depletion of mitochondrial DNA in ... OMIM:251880
Mitochondrial Complex I Deficiency, Nuclear Type 39
Hypertrophic cardiomyopathy, Anemia, Intrauterine growth retardation, Cryptorchidism OMIM:620135
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Pulmonary embolism, Anemia, Thrombocytosis, Hepatomegaly, Growth delay, Iron deficiency anemia, B... OMIM:226300
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hepatic fibrosis, Anemia, Elevated hepatic transaminase, Congestive heart failure, Dilated cardio... OMIM:615895
Cataract 16, Multiple Types
Retinal dystrophy, Lenticonus, Posterior polar cataract, Developmental cataract OMIM:613763
Cinca Syndrome
Anemia, Hepatosplenomegaly, Growth delay, Leukocytosis, Eosinophilia OMIM:607115
Dubin-Johnson Syndrome
Jaundice, Abnormality of the liver, Biliary tract abnormality, Hepatomegaly ORPHA:234
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Anemia, Acute monocytic leukemia, Thrombocytosis, Eosinophilia, Monocytosis, Congenital agranuloc... OMIM:202700
Muscle-Eye-Brain Disease
Cataract, Cognitive impairment, Optic atrophy ORPHA:588
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Optic nerve hypoplasia, Retinal dysplasia, Cataract, Peters anomaly, Remnants of the hyaloid vasc... OMIM:614643
Elliptocytosis 1
Splenomegaly, Elliptocytosis, Jaundice, Hemolytic anemia OMIM:611804
Anemia, Congenital Dyserythropoietic, Type Iiia
Jaundice, Macrocytic anemia, Increased circulating lactate dehydrogenase concentration, Anemia of... OMIM:105600
Biliary, Renal, Neurologic, And Skeletal Syndrome
Biliary cirrhosis, Cardiac arrest, Hepatomegaly, Splenomegaly, Tricuspid regurgitation, Congenita... OMIM:619534
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity, Persistent pupillary membrane ORPHA:1067
Neuroendocrine Tumor Of Stomach
Hypotension, Hepatic failure, Facial telangiectasia, Cardiogenic shock, Elevated hepatic transami... ORPHA:100075
Immunodeficiency 47
Leukopenia, Elevated circulating alanine aminotransferase concentration, Hepatic fibrosis, Cirrho... OMIM:300972
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Hepatic failure, Cirrhosis, Elevated hepatic transaminase, Congestive heart failure, Dilated card... ORPHA:367
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Cataract, Optic disc pallor OMIM:613730
Inflammatory Pseudotumor Of The Liver
Abnormal liver sonography, Elevated circulating alanine aminotransferase concentration, Cirrhosis... ORPHA:90003
Joubert Syndrome 9
Retinal dystrophy, Astigmatism, Cataract OMIM:612285
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Acute myeloid leukemia, Anemia, Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia... OMIM:619041
Gamma-Heavy Chain Disease
Anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Hepatomegaly, Thrombocytopenia,... ORPHA:100026
Senior-Boichis Syndrome
Hepatic fibrosis, Cirrhosis, Anemia, Elevated hepatic transaminase, Malformation of the hepatic d... ORPHA:84081
Wolcott-Rallison Syndrome
Abnormality of the liver, Neutropenia, Short stature, Exocrine pancreatic insufficiency, Lymphocy... ORPHA:1667
Phacoanaphylactic Uveitis
Corneal keratic precipitates, Abnormal pupil morphology, Retinal arteritis, Tractional retinal de... ORPHA:209959
Intermediate Osteopetrosis
Elevated circulating alkaline phosphatase concentration, Thrombocytopenia, Anemia, Hepatosplenome... ORPHA:210110
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Pancreatic hypoplasia, Biliary hyperplasia, B lymphocytopenia, Intrauterine growth retardation, S... ORPHA:83617
Rh-Null, Regulator Type
Stomatocytosis, Jaundice, Hemolytic anemia OMIM:268150
Dilated Cardiomyopathy With Ataxia
Microvesicular hepatic steatosis, Normochromic microcytic anemia, Bilateral cryptorchidism, Eleva... ORPHA:66634
Acyl-Coa Dehydrogenase 9 Deficiency
Sudden cardiac death, Cerebellar hemorrhage, Elevated hepatic transaminase, Congestive heart fail... ORPHA:99901
Amoebiasis Due To Entamoeba Histolytica
Anemia, Liver abscess, Elevated hepatic transaminase, Congestive heart failure, Elevated circulat... ORPHA:67
Thrombocytopenia 5
Epistaxis, Anemia, Thrombocytopenia, Neutropenia OMIM:616216
Letterer-Siwe Disease
Anemia, Jaundice, Hepatosplenomegaly, Thrombocytopenia, Neutropenia OMIM:246400
Primary Sclerosing Cholangitis
Spider hemangioma, Elevated alkaline phosphatase of hepatic origin, Cholangiocarcinoma, Elevated ... ORPHA:171
Microphthalmia With Brain And Digit Anomalies
Retinal dystrophy, Microcornea, Iris coloboma, Cataract, Chorioretinal coloboma, Sclerocornea ORPHA:139471
Chylomicron Retention Disease
Elevated hepatic transaminase, Hepatic steatosis, Growth delay, Increased hepatocellular lipid dr... ORPHA:71
Microphthalmia, Syndromic 5
Coloboma, Retinal dystrophy, Optic nerve hypoplasia, Microcornea, Cataract OMIM:610125
Ketamine-Induced Biliary Dilatation
Abnormal biliary tract morphology ORPHA:293807
Fanconi Anemia, Complementation Group T
Acute myeloid leukemia, Anemia, Short stature, Pancytopenia, Thrombocytopenia OMIM:616435
Gallbladder Disease 4
Cholelithiasis OMIM:611465
Wolfram Syndrome 1
Optic atrophy, Diabetes mellitus, Cataract, Pigmentary retinopathy, Cardiomyopathy OMIM:222300
Bone Marrow Failure Syndrome 2
Leukopenia, Anemia, Thrombocytopenia OMIM:615715
Primary Hepatic Neuroendocrine Carcinoma
Intermittent jaundice, Facial telangiectasia, Elevated alkaline phosphatase of hepatic origin, He... ORPHA:100085
Duodenal Neuroendocrine Tumor
Hypotension, Hepatic failure, Extrahepatic cholestasis, Increased hematocrit, Cardiogenic shock, ... ORPHA:100076
Shwachman-Diamond Syndrome 1
Acute myeloid leukemia, Anemia, Short stature, Elevated hepatic transaminase, Pancytopenia, Persi... OMIM:260400
Desmoplastic Small Round Cell Tumor
Anemia, Neoplasm of the pancreas, Abnormality of the peritoneum, Hepatomegaly, Testicular neoplas... ORPHA:83469
Autoimmune Hepatitis
Spider hemangioma, Cirrhosis, Fulminant hepatitis, Sclerosing cholangitis, Diffuse hepatic steato... ORPHA:2137
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal natural killer cell count, Decreased proportion of CD3-positive T cells, Elevated hepati... ORPHA:331206
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hepatic fibrosis, Cirrhosis, Anemia, Short stature, Elevated hepatic transaminase, Hepatocellular... ORPHA:79240
Norrie Disease
Abnormal pupil morphology, Self-injurious behavior, Optic atrophy, Hypoplasia of the iris, Anteri... ORPHA:649
Hemochromatosis, Type 5
Anemia, Elevated hepatic iron concentration OMIM:615517
Familial Hemophagocytic Lymphohistiocytosis
Anemia, Jaundice, Elevated hepatic transaminase, Hemophagocytosis, Hepatomegaly, Cholestatic live... ORPHA:540
Refractory Celiac Disease
Elevated alkaline phosphatase of bone origin, Normocytic anemia, Elevated hepatic transaminase, A... ORPHA:398063
Ileal Neuroendocrine Tumor
Hypotension, Hepatic failure, Extrahepatic cholestasis, Arterial occlusion, Cardiogenic shock, El... ORPHA:100078
Jejunal Neuroendocrine Tumor
Hypotension, Hepatic failure, Extrahepatic cholestasis, Arterial occlusion, Cardiogenic shock, El... ORPHA:100077
Bleeding Disorder, Platelet-Type, 16
Anemia, Macrothrombocytopenia, Giant platelets, Platelet anisocytosis, Thrombocytopenia OMIM:187800
Congenital Disorder Of Glycosylation, Type It
Sudden cardiac death, Pulmonary arterial hypertension, Elevated circulating alanine aminotransfer... OMIM:614921
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Thrombocytopenia, Anisopoikilocytosis, Splenomegaly OMIM:617441
Porphyria Cutanea Tarda
Periportal fibrosis, Hepatic lobular inflammation, Elevated hepatic transaminase, Hepatocellular ... ORPHA:101330
Otodental Syndrome
Microcornea, Lens coloboma, Iris coloboma, Cataract, Retinal coloboma ORPHA:2791
Coloboma Of Optic Nerve
Retinal detachment, Optic disc coloboma OMIM:120430
Gcgr-Related Hyperglucagonemia
Neoplasm of the pancreas, Abnormal biliary tract morphology, Cholelithiasis ORPHA:438274
Carnitine-Acylcarnitine Translocase Deficiency
Hypotension, Cardiac arrest, Elevated hepatic transaminase, Hepatic steatosis, Premature ventricu... OMIM:212138
Sialuria
Elevated hepatic transaminase, Cholelithiasis, Hepatomegaly, Hepatosplenomegaly ORPHA:3166
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Osteopetrosis, Autosomal Recessive 1
Anemia, Pancytopenia, Elevated circulating alkaline phosphatase concentration, Hepatomegaly, Incr... OMIM:259700
Omenn Syndrome
Anemia, Hypoplasia of the thymus, B lymphocytopenia, Severe B lymphocytopenia, Hepatomegaly, Eosi... OMIM:603554
Attrv122I Amyloidosis
Anemia, Restrictive cardiomyopathy, Reduced left ventricular ejection fraction, Abnormal EKG, Ang... ORPHA:85451
Tyrosinemia, Type I
Cirrhosis, Hepatic failure, Anemia, Elevated hepatic transaminase, Hepatocellular carcinoma, Hype... OMIM:276700
Infantile Liver Failure Syndrome 2
Jaundice, Acute hepatic failure, Elevated hepatic transaminase, Cardiomyopathy OMIM:616483
Alpha-Mannosidosis, Adult Form
Aortic regurgitation, Cataract, Corneal opacity, Anxiety, Optic disc pallor ORPHA:309288
Al Amyloidosis
Anemia, Howell-Jolly bodies, Abnormality of the liver, Reduced left ventricular ejection fraction... ORPHA:85443
Methylmalonic Aciduria, Cblb Type
Anemia, Pancytopenia, Decreased methylmalonyl-CoA mutase activity, Hepatomegaly, Thrombocytopenia... OMIM:251110
Hellp Syndrome
Hypotension, Hemolytic anemia, Cerebral hemorrhage, Microangiopathic hemolytic anemia, Decreased ... ORPHA:244242
Peutz-Jeghers Syndrome
Pancreatic adenocarcinoma, Anemia, Enlarged polycystic ovaries, Abnormality of the gallbladder, B... ORPHA:2869
Reynolds Syndrome
Biliary cirrhosis, Jaundice, Raynaud phenomenon, Elevated hepatic transaminase, Lymphopenia, Elev... OMIM:613471
Cleft Palate, Proliferative Retinopathy, And Developmental Delay
Retinal neovascularization OMIM:619074
Multiple Sulfatase Deficiency
Optic atrophy, Abnormality of retinal pigmentation, Cataract, Rapid neurologic deterioration, Cor... ORPHA:585
Hepatocellular Carcinoma
Hypotension, Anemia, Abnormality of the liver, Liver abscess, Hepatic necrosis, Jaundice, Elevate... ORPHA:88673
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Anemia, Hepatitis, Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Eosinophilia, T... OMIM:304790
Walker-Warburg Syndrome
Optic atrophy, Retinal dystrophy, Abnormal optic nerve morphology, Microcornea, Retinal dysplasia... ORPHA:899
Proteasome-Associated Autoinflammatory Syndrome 3
Anemia, Elevated hepatic transaminase, Lymphopenia, Hepatomegaly, Thrombocytopenia, Splenomegaly OMIM:617591
Pearson Marrow-Pancreas Syndrome
Hepatic failure, Anemia, Reticulocytopenia, Refractory sideroblastic anemia, Elevated hepatic tra... OMIM:557000
Congenital Sialidosis Type 2
Telangiectasia, Optic atrophy, Abnormal EKG, Developmental cataract, Cataract, Hypoplasia of the ... ORPHA:93400
Sitosterolemia 1
Stomatocytosis, Anemia, Reticulocytosis, Episodic hemolytic anemia, Chronic hemolytic anemia, Gia... OMIM:210250
Acquired Aneurysmal Subarachnoid Hemorrhage
Cognitive impairment, Ischemic stroke, Cerebral hemorrhage, Cerebral ischemia, Syncope, ST segmen... ORPHA:90065
Alveolar Echinococcosis
Pancreatic cysts, Biliary cirrhosis, Hepatic cysts, Anemia, Liver abscess, Jaundice, Abnormal spl... ORPHA:284
Usher Syndrome
Cognitive impairment, Abnormality of retinal pigmentation, Astigmatism, Cataract, Hypertrophic ca... ORPHA:886
Hemophagocytic Syndrome Associated With An Infection
Abnormal natural killer cell count, Abnormal T cell subset distribution, Anemia, Elevated hepatic... ORPHA:158048
Chediak-Higashi Syndrome
Leukopenia, Anemia, Spontaneous, recurrent epistaxis, Jaundice, Giant neutrophil granules, Hemoph... OMIM:214500
Nephronophthisis 11
Hepatic fibrosis, Growth delay, Anemia OMIM:613550
Methylmalonic Aciduria, Cbla Type
Anemia, Pancytopenia, Decreased methylmalonyl-CoA mutase activity, Hepatomegaly, Thrombocytopenia... OMIM:251100
Hemophagocytic Lymphohistiocytosis, Familial, 2
Leukopenia, Anemia, Jaundice, Elevated hepatic transaminase, Pancytopenia, Hepatosplenomegaly, He... OMIM:603553
Common Variable Immunodeficiency
Abnormality of the liver, Hemolytic anemia, Elevated hepatic transaminase, Lymphopenia, Autoimmun... ORPHA:1572
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Anemia, Jaundice, Elevated hepatic transaminase, Hepatosplenomegaly, Hepatic steatosis, Elevated ... ORPHA:247598
Full Nf2-Related Schwannomatosis
Retinal hamartoma, Epiretinal membrane, Posterior subcapsular cataract, Remnants of the hyaloid v... ORPHA:637
Papillorenal Syndrome
Morning glory anomaly, Lens luxation, Macular degeneration, Hypertension, Cataract, Chorioretinal... OMIM:120330
Myotonic Dystrophy 1
Testicular atrophy, Atrial flutter, First degree atrioventricular block, Cholelithiasis, Atrial f... OMIM:160900
Dyskeratosis Congenita, Autosomal Dominant 1
Leukopenia, Cirrhosis, Anemia, Hepatic necrosis, Lymphopenia, Thrombocytopenia, Increased mean co... OMIM:127550
Osteopetrosis, Autosomal Recessive 5
Hepatic failure, Anemia, Short stature, Extramedullary hematopoiesis, Pancytopenia, Hepatosplenom... OMIM:259720
Meckel Syndrome, Type 1
Asplenia, Intrauterine growth retardation, Malformation of the hepatic ductal plate, Bile duct pr... OMIM:249000
Immunodeficiency 21
Reduced natural killer cell count, Anemia, Myeloid leukemia, Monocytopenia, B lymphocytopenia, Ly... OMIM:614172
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Anemia, Decreased methionine synthase activity, Megaloblastic anemia, Short stature, Pancytopenia... OMIM:277380
Peutz-Jeghers Syndrome
Neoplasm of the pancreas, Biliary tract abnormality, Intestinal bleeding, Bile duct polyp, Iron d... OMIM:175200
Cataract 10, Multiple Types
Posterior Y-sutural cataract, Nuclear cataract, Zonular cataract, Developmental cataract OMIM:600881
Mitchell-Riley Syndrome
Absent gallbladder, Pancreatic hypoplasia, Biliary atresia, Acholic stools, Cholestasis, Annular ... OMIM:615710
Martinez-Frias Syndrome
Pancreatic hypoplasia, Hypoplasia of the gallbladder, Extrahepatic biliary duct atresia, Annular ... OMIM:601346
Pomgnt2-Related Limb-Girdle Muscular Dystrophy R24
Biliary atresia ORPHA:565899
Osteootohepatoenteric Syndrome
Hepatic fibrosis, Microvesicular hepatic steatosis, Anemia, Portal fibrosis, Cholestasis, Prolong... OMIM:619377
Aniridia And Absent Patella
Cataract, Aniridia OMIM:106220
Q Fever
Anemia, Abnormality of the liver, Hepatitis, Elevated hepatic transaminase, Hepatosplenomegaly, P... ORPHA:781
North American Indian Childhood Cirrhosis
Portal hypertension, Prolonged neonatal jaundice, Biliary cirrhosis OMIM:604901
Idiopathic Aplastic Anemia
Retinal hemorrhage, Anemia, Reticulocytopenia, Pancytopenia, Epistaxis, Thrombocytopenia, Neutrop... ORPHA:88
Bone Marrow Failure Syndrome 5
Anemia, Short stature, Erythroid hypoplasia, Testicular atrophy, Growth delay, Pure red cell aplasia OMIM:618165
Peroxisome Biogenesis Disorder 12A (Zellweger)
Hepatic failure, Short stature, Elevated hepatic transaminase, Growth delay, Cholelithiasis OMIM:614886
Gallbladder Neuroendocrine Tumor
Intermittent jaundice, Extrahepatic cholestasis, Elevated alkaline phosphatase of hepatic origin,... ORPHA:100086
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hepatic failure, Cirrhosis, Microvesicular hepatic steatosis, Jaundice, Elevated hepatic transami... OMIM:617156
Proximal Myotonic Myopathy
Cataract ORPHA:606
Lysosomal Acid Lipase Deficiency
Hypotension, Pulmonary arterial hypertension, Hepatic fibrosis, Hepatic failure, Microvesicular h... ORPHA:275761
Werner Syndrome
Diabetes mellitus, Cataract, Retinal degeneration OMIM:277700
Orthostatic Hypotension 2
Orthostatic hypotension, Anemia OMIM:618182
Mody
Transient neonatal diabetes mellitus, Retinopathy, Diabetic ketoacidosis, Glycosuria, Neonatal hy... ORPHA:552
Porphyria, Congenital Erythropoietic
Hemolytic anemia, Short stature, Jaundice, Hepatomegaly, Cholelithiasis, Thrombocytopenia, Spleno... OMIM:263700
Congenital Tufting Enteropathy
Corneal erosion, Irritability, Punctate keratitis, Cataract, Optic disc coloboma ORPHA:92050
Wagro Syndrome
Aggressive behavior, Hypertension, Emotional lability, Cataract, Corneal opacity, Anxiety, Low fr... OMIM:612469
Shwachman-Diamond Syndrome
Acute myeloid leukemia, Impaired neutrophil chemotaxis, Elevated hepatic transaminase, Hepatomega... ORPHA:811
Primary Biliary Cholangitis
Hepatic fibrosis, Biliary cirrhosis, Cirrhosis, Hepatic failure, Hepatitis, Jaundice, Hepatocellu... ORPHA:186
Classic Homocystinuria
Pulmonary embolism, Optic atrophy, Cerebral ischemia, Intracranial hemorrhage, Abnormality of ret... ORPHA:394
Fanconi Anemia, Complementation Group V
Anemia, Thrombocytopenia, Neutropenia, Short stature OMIM:617243
Gastrointestinal Stromal Tumor
Anemia, Abnormality of the liver, Gastrointestinal hemorrhage ORPHA:44890
Cerebrotendinous Xanthomatosis
Angina pectoris, Dementia, Myocardial infarction, Cataract, Optic disc pallor OMIM:213700
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hepatitis, Cholesterol gallstones, Hepatic steatosis, Cholestasis, Acute hepatic steatosis, Macro... ORPHA:209902
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Pulmonary arterial hypertension, Hepatic fibrosis, Anemia, Elevated hepatic transaminase, Intraut... OMIM:620005
Generalized Pseudohypoaldosteronism Type 1
Proportionate short stature, Hypovolemic shock, Cholelithiasis, Arrhythmia ORPHA:171876
Diamond-Blackfan Anemia 20
Anemia, Erythroid hypoplasia OMIM:618313
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Anemia, Hemophagocytosis, Splenomegaly, Pancytopenia OMIM:618398
Glycogen Storage Disease Ib
Short stature, Pancreatitis, Elevated hepatic transaminase, Hepatocellular carcinoma, Hypertensio... OMIM:232220
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Pulmonary arterial hypertension, Leukopenia, Anemia, Hypoplasia of the thymus, Pulmonic stenosis,... OMIM:612541
Osteopetrosis, Autosomal Recessive 3
Anemia, Extramedullary hematopoiesis, Short stature, Hepatosplenomegaly OMIM:259730
Knobloch Syndrome
Macular degeneration, Vitreoretinopathy, Ectopia lentis, Cataract, Retinal detachment, Abnormal v... ORPHA:1571
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Leukopenia, Anemia, Raynaud phenomenon, Elevated hepatic transaminase, Hypertension, Pancytopenia... OMIM:615688
Rift Valley Fever
Retinal hemorrhage, Anemia, Hepatitis, Jaundice, Elevated hepatic transaminase, Hematemesis, Thro... ORPHA:319251
Ppoma
Intermittent jaundice, Extrahepatic cholestasis, Increased circulating prolactin concentration, P... ORPHA:97278
Lathosterolosis
Bilobate gallbladder, Anisopoikilocytosis, Elevated hepatic transaminase, Intrahepatic cholestasi... OMIM:607330
Fanconi Anemia, Complementation Group Q
Biliary atresia, Growth delay, Short stature OMIM:615272
Alport Syndrome 2, Autosomal Recessive
Hypertension, Cataract, Anterior lenticonus, Corneal erosion OMIM:203780
Telangiectasia, Hereditary Hemorrhagic, Type 2
Hepatic arteriovenous malformation, Facial telangiectasia, Ischemic stroke, Spontaneous, recurren... OMIM:600376
Stevens-Johnson Syndrome
Sudden cardiac death, Anemia, Elevated hepatic transaminase, Abnormality of neutrophils, Myocardi... ORPHA:36426
Pearson Syndrome
Elevated hepatic transaminase, Reticulocytosis, Hepatic steatosis, Hypoparathyroidism, Hepatomega... ORPHA:699
Paroxysmal Nocturnal Hemoglobinuria
Leukopenia, Anemia, Pulmonary embolism, Hemolytic anemia, Jaundice, Abnormal erythrocyte enzyme l... ORPHA:447
Gaucher Disease Type 3
Pulmonary arterial hypertension, Anemia, Pancytopenia, Delayed puberty, Growth delay, Hepatomegal... ORPHA:77261
Stromme Syndrome
Retinal vascular tortuosity, Microcornea, Optic nerve hypoplasia, Iris coloboma, Peters anomaly, ... OMIM:243605
Lysinuric Protein Intolerance
Leukopenia, Anemia, Pulmonary hemorrhage, Short stature, Pancreatitis, Hemophagocytosis, Hepatome... OMIM:222700
Chronic Visceral Acid Sphingomyelinase Deficiency
Cirrhosis, Hepatic failure, Splenomegaly, Short stature, Hypersplenism, Neoplasm of the liver, Ac... ORPHA:77293
X-Linked Lymphoproliferative Disease
T lymphocytopenia, Elevated hepatic transaminase, Hepatosplenomegaly, Increased T cell count, Dec... ORPHA:2442
Cataract 5, Multiple Types
Lamellar cataract, Zonular cataract, Pulverulent cataract, Anterior polar cataract, Nuclear cataract OMIM:116800
Grfoma
Intermittent jaundice, Extrahepatic cholestasis, Increased circulating prolactin concentration, P... ORPHA:97261
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome
Cataract, Memory impairment, Optic atrophy, Mental deterioration ORPHA:314404
Kasabach-Merritt Syndrome
Leukopenia, Anemia, Microangiopathic hemolytic anemia, Reticulocytosis, Hepatic hemangioma, Throm... ORPHA:2330
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Anemia, Thrombocytopenia, Microangiopathic hemolytic anemia, Hypertension OMIM:612924
Holoprosencephaly 12 With Or Without Pancreatic Agenesis
Absent gallbladder, Elevated circulating alanine aminotransferase concentration, Elevated gamma-g... OMIM:618500
Telangiectasia, Hereditary Hemorrhagic, Type 1
Hepatic arteriovenous malformation, Ischemic stroke, Spontaneous, recurrent epistaxis, Fingerpad ... OMIM:187300
Osteopetrosis, Autosomal Recessive 7
Growth delay, Anemia, Splenomegaly, Hepatomegaly OMIM:612301
Glycogen Storage Disease Of Heart, Lethal Congenital
Hypotension, T-wave inversion, ST segment depression, Congestive heart failure, Neonatal hypoglyc... OMIM:261740
Linear Skin Defects With Multiple Congenital Anomalies 1
Histiocytoid cardiomyopathy, Iris coloboma, Peters anomaly, Cataract, Junctional ectopic tachycar... OMIM:309801
Cataract 20, Multiple Types
Cortical cataract, Sutural cataract, Lamellar cataract, Membranous cataract OMIM:116100
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Asplenia, Hypoparathyroidism, Cholelithiasis, Chronic active hepatitis OMIM:240300
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Pulmonary arterial hypertension, Hepatic fibrosis, Anemia, Spontaneous, recurrent epistaxis, Panc... ORPHA:2072
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Absent gallbladder, Anemia, Short stature, Heart murmur, Intracranial hemorrhage, Cryptorchidism,... ORPHA:163979
Cimdag Syndrome
Microvesicular hepatic steatosis, Cholelithiasis, Hepatomegaly OMIM:619273
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
Anemia, Hepatic arteriovenous malformation, Telangiectasia, Epistaxis, Mitral regurgitation, Hema... OMIM:175050
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Megalocornea, Hypoplasia of the retina, Coloboma, Optic atrophy, Retinal atrophy, Retinal degener... OMIM:253280
Neuroocular Syndrome
Brushfield spots, Anxiety, Lens coloboma, Microcornea, Iris coloboma, Peters anomaly, Cataract, B... OMIM:619539
Autosomal Dominant Optic Atrophy And Cataract
Optic atrophy, Cerulean cataract, Anterior subcapsular cataract, Posterior subcapsular cataract, ... ORPHA:67036
Metachromatic Leukodystrophy
Neoplasm of the gallbladder, Abnormal gallbladder morphology, Abnormal circulating enzyme concent... ORPHA:512
Pancreatic Agenesis-Holoprosencephaly Syndrome
Absent gallbladder, Pancreatic aplasia, Decreased circulating lipoprotein lipase concentration, I... ORPHA:556955
Congenital Alveolar Capillary Dysplasia
Absent gallbladder, Asplenia, Pulmonary arterial hypertension, Annular pancreas, Aortic valve ste... ORPHA:210122
Distal Trisomy 5Q
Cryptorchidism, Short stature, Aplasia/Hypoplasia of the gallbladder ORPHA:96097
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Decreased testicular size, Cholelithiasis, Short stature, Cryptorchidism OMIM:300534
Blau Syndrome
Iritis, Hypertension, Pericarditis, Cataract, Cystoid macular edema, Band keratopathy OMIM:186580
Trichohepatoneurodevelopmental Syndrome
Recurrent pancreatitis, Exocrine pancreatic insufficiency, Elevated circulating alkaline phosphat... OMIM:618268
Acromelic Frontonasal Dysostosis
Remnants of the hyaloid vascular system, Optic nerve hypoplasia OMIM:603671
Microphthalmia, Syndromic 2
Developmental cataract, Microcornea, Remnants of the hyaloid vascular system, Iris coloboma, Reti... OMIM:300166
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Cholecystitis, Cholelithiasis, Hepatomegaly, Hepatosplenomegaly OMIM:301066
Holoprosencephaly 2
Iris coloboma, Cyclopia, Chorioretinal coloboma, Remnants of the hyaloid vascular system OMIM:157170
Neurofibroma
Abnormal biliary tract morphology, Intestinal bleeding, Enlargement of parotid gland ORPHA:252183
Bohring-Opitz Syndrome
Short stature, Annular pancreas, Cholelithiasis, Bradycardia, Intrauterine growth retardation ORPHA:97297
8P Inverted Duplication/Deletion Syndrome
Cryptorchidism, Aplasia/Hypoplasia of the gallbladder ORPHA:96092
Basel-Vanagaite-Smirin-Yosef Syndrome
Pulmonary arterial hypertension, Cholelithiasis ORPHA:464738
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Pancreatic hypoplasia, Biliary atresia, Aplasia/Hypoplasia of the gallbladder, Pancreatic aplasia... ORPHA:2255
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum
Cyst of the ductus choledochus OMIM:619480
22Q11.2 Deletion Syndrome
Hypoplasia of the thymus, Short stature, Intrauterine growth retardation, Corneal neovascularizat... ORPHA:567
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Cyst of the ductus choledochus, Short stature, Delayed puberty, Hypoplastic nipples, Cardiomyopathy ORPHA:480880
Steinert Myotonic Dystrophy
Supraventricular tachycardia, Decreased response to growth hormone stimulation test, Elevated hep... ORPHA:273
Digeorge Syndrome
Splenomegaly, Anemia, Hypoplasia of the thymus, Short stature, Hydrocele testis, Hepatic steatosi... OMIM:188400
Trisomy 8P
Annular pancreas, Cryptorchidism, Heart murmur, Aplasia/Hypoplasia of the gallbladder ORPHA:264450
Cerebrotendinous Xanthomatosis
Prolonged neonatal jaundice, Cholelithiasis, Abnormal circulating enzyme concentration or activity ORPHA:909
Williams Syndrome
Sudden cardiac death, Cerebral ischemia, Short stature, Pulmonic stenosis, Hypertension, Congesti... ORPHA:904

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Cdk5rap3

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Cdk5rap3.

There are 3 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Cdk5rap3 is essential for intestinal Paneth cell development and maintenance. Cell death & disease (January 2021) Cdk5rap3tm1a(EUCOMM)Hmgu PMC7841144
CDK5RAP3 Deficiency Restrains Liver Regeneration after Partial Hepatectomy Triggering Endoplasmic Reticulum Stress. The American journal of pathology (September 2020) Cdk5rap3tm1c(EUCOMM)Hmgu 32926856
CDK5RAP3, a UFL1 substrate adaptor, is crucial for liver development. Development (Cambridge, England) (January 2019) Cdk5rap3tm1c(EUCOMM)Hmgu Cdk5rap3tm1a(EUCOMM)Hmgu Cdk5rap3tm1b(EUCOMM)Hmgu 30635284

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MGI Allele Allele Type Produced
Cdk5rap3tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Cdk5rap3tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Cdk5rap3tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Cdk5rap3tm1b(EUCOMM)Hmgu Reporter-tagged deletion allele (with selection cassette) Mice

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