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Gene: Atp5l MGI:1351597

Gene Summary

Name:

ATP synthase, H+ transporting, mitochondrial F0 complex, subunit G

Synonyms:

F1F0-ATP synthase g subunit, 4933437C06Rik

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

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	Allele	Zyg	Life Stage	P Value
increased circulating serum albumin level	Atp5l^{tm1b(EUCOMM)Hmgu}	HET	Early adult	4.17×10^-05
increased mean corpuscular hemoglobin	Atp5l^{tm1b(EUCOMM)Hmgu}	HET	Early adult	1.81×10^-05
preweaning lethality, complete penetrance	Atp5l^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	0.00
decreased eosinophil cell number	Atp5l^{tm1b(EUCOMM)Hmgu}	HET	Early adult	8.22×10^-09
increased blood urea nitrogen level	Atp5l^{tm1b(EUCOMM)Hmgu}	HET	Early adult	2.59×10^-06
abnormal gait	Atp5l^{tm1b(EUCOMM)Hmgu}	HET	Early adult	4.79×10^-06
enlarged spleen	Atp5l^{tm1b(EUCOMM)Hmgu}	HET	Early adult	0.00
enlarged heart	Atp5l^{tm1b(EUCOMM)Hmgu}	HET	Early adult	0.00

Download data as: TSV XLS

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Viewing: all phenotypes

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Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy	Images	Zygosity	Mutant Expr
Brain	Wholemount images	heterozygote	100% (2 of 2)
Brainstem	Wholemount images	heterozygote	100% (2 of 2)
Cerebellum	Wholemount images	heterozygote	100% (2 of 2)
Cerebral cortex	Wholemount images	heterozygote	100% (2 of 2)
Hippocampus	Wholemount images	heterozygote	100% (2 of 2)
Hypothalamus	Wholemount images	heterozygote	100% (2 of 2)
Kidney	Wholemount images	heterozygote	100% (2 of 2)
Olfactory lobe	Wholemount images	heterozygote	0.0% (0 of 2)
Skin	Wholemount images	heterozygote	100% (2 of 2)
Spinal cord	Wholemount images	heterozygote	100% (2 of 2)
Stomach	Wholemount images	heterozygote	50% (1 of 2)
Testis	Wholemount images	heterozygote	50% (1 of 2)
Adrenal gland	N/A	heterozygote	0.0% (0 of 2)
Aorta	N/A	heterozygote	0.0% (0 of 2)
Bone	N/A	heterozygote	0.0% (0 of 2)
Brown adipose tissue	N/A	heterozygote	0.0% (0 of 2)
Cartilage tissue	N/A	heterozygote	0.0% (0 of 2)
Esophagus	N/A	heterozygote	0.0% (0 of 2)
Eye	N/A	heterozygote	0.0% (0 of 2)
Gall bladder	N/A	heterozygote	0.0% (0 of 2)
Heart	N/A	heterozygote	0.0% (0 of 2)
Large intestine	N/A	heterozygote	0.0% (0 of 2)
Liver	N/A	heterozygote	0.0% (0 of 2)
Lower urinary tract	N/A	heterozygote	0.0% (0 of 2)
Lung	N/A	heterozygote	0.0% (0 of 2)
Lymph node	N/A	heterozygote	0.0% (0 of 2)
Mammary gland	N/A	heterozygote	0.0% (0 of 2)
Oral epithelium	N/A	heterozygote	0.0% (0 of 2)
Ovary	N/A	heterozygote	0.0% (0 of 2)
Oviduct	N/A	heterozygote	0.0% (0 of 2)
Pancreas	N/A	heterozygote	0.0% (0 of 2)
Parathyroid gland	N/A	heterozygote	0.0% (0 of 2)
Peripheral nervous system	N/A	heterozygote	0.0% (0 of 2)
Peyer's patch	N/A	heterozygote	0.0% (0 of 2)
Pituitary gland	N/A	heterozygote	0.0% (0 of 2)
Prostate gland	N/A	heterozygote	0.0% (0 of 2)
Skeletal muscle	N/A	heterozygote	0.0% (0 of 2)
Small intestine	N/A	heterozygote	0.0% (0 of 2)
Spleen	N/A	heterozygote	0.0% (0 of 2)
Striatum	N/A	heterozygote	0.0% (0 of 2)
Thymus	N/A	heterozygote	0.0% (0 of 2)
Thyroid gland	N/A	heterozygote	0.0% (0 of 2)
Trachea	N/A	heterozygote	0.0% (0 of 2)
Uterus	N/A	heterozygote	0.0% (0 of 2)
Vascular system	N/A	heterozygote	0.0% (0 of 2)
White adipose tissue	N/A	heterozygote	0.0% (0 of 2)

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy	Images	Zygosity	Mutant Expr
Brain	N/A	heterozygote	0.0% (0 of 1)
Ear	N/A	heterozygote	Not available
Embryo	N/A	heterozygote	0.0% (0 of 1)
Eye	N/A	heterozygote	0.0% (0 of 1)
Footplate	N/A	heterozygote	0.0% (0 of 1)
Forebrain	N/A	heterozygote	0.0% (0 of 1)
Forelimb	N/A	heterozygote	0.0% (0 of 1)
Handplate	N/A	heterozygote	0.0% (0 of 1)
Head	N/A	heterozygote	0.0% (0 of 1)
Heart	N/A	heterozygote	Not available
Hindbrain	N/A	heterozygote	0.0% (0 of 1)
Hindlimb	N/A	heterozygote	0.0% (0 of 1)
Liver	N/A	heterozygote	Not available
Lung	N/A	heterozygote	Not available
Mandibular process	N/A	heterozygote	Not available
Maxillary process	N/A	heterozygote	Not available
Midbrain	N/A	heterozygote	0.0% (0 of 1)
Oral cavity	N/A	heterozygote	Not available
Skin	N/A	heterozygote	0.0% (0 of 1)
Tail somite	N/A	heterozygote	0.0% (0 of 1)
Tail	N/A	heterozygote	0.0% (0 of 1)

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy	Background staining in controls (WT)
adrenal gland	0.67% (4 of 598)
aorta	0.17% (1 of 598)
bone	0.0%
brain	0.84% (5 of 598)
brainstem	0.33% (2 of 598)
brown adipose tissue	0.0%
cartilage tissue	0.17% (1 of 598)
cerebellum	0.5% (3 of 598)
cerebral cortex	0.33% (2 of 598)
esophagus	1.66% (7 of 422)
eye	0.0%
gall bladder	0.0%
heart	0.33% (2 of 598)
hippocampus	0.5% (3 of 598)
hypothalamus	0.33% (2 of 598)
kidney	4.52% (27 of 598)
large intestine	5.35% (32 of 598)
liver	0.0%
lower urinary tract	0.17% (1 of 598)
lung	0.33% (2 of 598)
lymph node	0.17% (1 of 598)
mammary gland	0.0%
olfactory lobe	0.33% (2 of 598)
oral epithelium	0.0%
ovary	0.17% (1 of 598)
oviduct	0.0%
pancreas	0.84% (5 of 598)
parathyroid gland	0.17% (1 of 576)
peripheral nervous system	0.33% (2 of 598)
peyers patch	0.0%
pituitary gland	0.17% (1 of 598)
prostate gland	2.17% (13 of 598)
skeletal muscle	0.0%
skin	0.17% (1 of 598)
small intestine	5.35% (32 of 598)
spinal cord	0.5% (3 of 598)
spleen	0.5% (3 of 598)
stomach	3.68% (22 of 598)
striatum	0.5% (3 of 598)
testis	1% (6 of 598)
thymus	0.17% (1 of 598)
thyroid gland	3.01% (18 of 598)
trachea	0.5% (3 of 598)
uterus	0.33% (2 of 598)
vascular system	0.0%
white adipose tissue	0.0%

Background staining occurs in wild type mice and embryos at an incidental rate.

Background staining occurs in wild type embryos at a measurable rate.

Anatomy	Background staining in controls(WT)
brain	1.17% (6 of 511)
ear	0.2% (1 of 511)
embryo	0.39% (2 of 512)
eye	0.2% (1 of 511)
footplate	0.2% (1 of 511)
forebrain	0.2% (1 of 511)
forelimb	0.2% (1 of 511)
handplate	0.2% (1 of 511)
head	0.98% (5 of 511)
heart	0.2% (1 of 511)
hindbrain	1.17% (6 of 511)
hindlimb	0.2% (1 of 511)
liver	0.2% (1 of 506)
lung	0.2% (1 of 506)
mandibular process	0.2% (1 of 511)
maxillary process	0.2% (1 of 511)
midbrain	0.2% (1 of 511)
oral cavity	0.2% (1 of 506)
skin	0.2% (1 of 511)
tail	0.2% (1 of 511)
tail somite group	0.2% (1 of 511)

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 Lateral Orientation

10 Images

View images

Adult LacZ

LacZ Images Wholemount

8 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

View images

Echo

M-Mode Images

28 Images

View images

Embryo LacZ

LacZ images wholemount

4 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

View images

Immunophenotyping

Panel B FCS file(s)

8 Images

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Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

4 Images

View images

Immunophenotyping

Panel A FCS file(s)

8 Images

View images

Human diseases caused by Atp5l 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.

Human diseases associated with Atp5l (0 diseases)
Human diseases predicted to be associated with Atp5l (551 diseases)

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

The table below shows human diseases predicted to be associated to Atp5l by phenotypic similarity.

Disease	Matching phenotypes	Source
Hemoglobin D Disease	Anemia, Reduced alpha/beta synthesis ratio, HbS hemoglobin, Increased HbA2 hemoglobin, Reduced he...	ORPHA:90039
Hemoglobin E-Beta-Thalassemia Syndrome	Anemia, Increased circulating ferritin concentration, Abnormal hemoglobin	ORPHA:231249
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Ataxia, Gait disturbance, Splenomegaly, Hepatomegaly	ORPHA:2274
Hemoglobin H Disease	Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hepatomegaly, Splenomegaly	OMIM:613978
Fetal Cytomegalovirus Syndrome	Anemia, Splenomegaly, Hepatomegaly	ORPHA:294
Beta-Thalassemia, Dominant Inclusion Body Type	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Persistence of he...	OMIM:603902
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Anemia, Splenomegaly, Hepatomegaly, Persistence of hemoglobin F	ORPHA:46532
Hemoglobin C-Beta-Thalassemia Syndrome	Anemia, Abnormal hemoglobin, Splenomegaly, Microcytic anemia	ORPHA:231242
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Anemia, Thrombocytopenia, Abnormal hemoglobin, Splenomegaly	ORPHA:231393
Hyperbilirubinemia, Shunt, Primary	Jaundice, Hyperbilirubinemia, Erythroid hyperplasia, Reticulocytosis, Hepatomegaly, Anemia of ina...	OMIM:237800
Cholestasis, Progressive Familial Intrahepatic, 10	Increased total bilirubin, Jaundice, Acholic stools, Portal fibrosis, Increased serum bile acid c...	OMIM:619868
Hemoglobin E Disease	Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Hypochromi...	ORPHA:2133
Hemoglobin-Delta locus	Imbalanced hemoglobin synthesis, Anemia	OMIM:142000
Ethanolaminosis	Cardiomegaly	OMIM:227150
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Splenomegaly, Anemia, Congenital hemolytic anemia, Unconjugated hyperbilirubinemia, Elevated tran...	ORPHA:766
Neutrophilia, Hereditary	Neutrophilia, Splenomegaly	OMIM:162830
Cardiomyopathy, Dilated, 1I	Cardiomegaly, Dilated cardiomyopathy, Elevated circulating creatine kinase concentration	OMIM:604765
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Hyperlipoproteinemia, Recurrent pancreatitis, Splenomegaly	OMIM:118830
Combined Oxidative Phosphorylation Deficiency 34	Pancytopenia, Hepatic steatosis, Increased blood urea nitrogen, Hepatomegaly, Elevated circulatin...	OMIM:617872
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Cardiomegaly, Hypoalbuminemia	ORPHA:88643
Red Cell Phospholipid Defect With Hemolysis	Intermittent jaundice, Hyperbilirubinemia, Splenomegaly, Reticulocytosis	OMIM:179700
Immunodeficiency 32B	Anemia, Monocytopenia, Neutrophilia, Eosinophilia, Hepatomegaly, Impaired oxidative burst, Thromb...	OMIM:226990
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1	Hypoalbuminemia, Steppage gait, Ataxia, Hypercholesterolemia	OMIM:607250
Focal Segmental Glomerulosclerosis 1	Anemia, Hyperlipidemia, Hypoalbuminemia	OMIM:603278
Immunodeficiency 27A	Anemia, Hepatosplenomegaly, Lymphadenopathy, Thrombocytosis, Leukocytosis, Histiocytosis, Enlarge...	OMIM:209950
Immunodeficiency 69	Anemia, Pancytopenia, Hepatosplenomegaly, Increased circulating ferritin concentration, Thrombocy...	OMIM:618963
Congenital Amegakaryocytic Thrombocytopenia	Anemia, Thrombocytopenia, Abnormal hemoglobin, Abnormal cardiac septum morphology	ORPHA:3319
Diamond-Blackfan Anemia 18	Erythroid hypoplasia, Neutropenia, Steroid-responsive anemia	OMIM:618310
Thalassemia, Beta+, Silent Allele	Reduced beta/alpha synthesis ratio	OMIM:187550
Alpha-Thalassemia	Anemia, Hemolytic anemia, Hypersplenism, Jaundice, Cholelithiasis, Abnormal hemoglobin, Splenomeg...	ORPHA:846
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2	Hyperleucinemia, Increased blood urea nitrogen, Hyperammonemia, Hypervalinemia, Hyperisoleucinemia	OMIM:620085
Fetal Hemoglobin Quantitative Trait Locus 1	Persistence of hemoglobin F	OMIM:141749
Triokinase And Fmn Cyclase Deficiency Syndrome	Dilated cardiomyopathy, Broad-based gait, Hepatic steatosis, Hepatomegaly, Pancreatitis, Microcyt...	OMIM:618805
Proteasome-Associated Autoinflammatory Syndrome 5	Hypertriglyceridemia, Splenomegaly, Hepatomegaly	OMIM:619175
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Cirrhosis, Anemia, Jaundice, Erythroid hyperplasia, Hepatosplenomegaly, Decreased mean corpuscula...	OMIM:616860
Hemophagocytic Lymphohistiocytosis, Familial, 4	Anemia, Neutropenia, Jaundice, Lymphadenopathy, Increased circulating ferritin concentration, Hem...	OMIM:603552
Erythroleukemia, Familial, Susceptibility To	Acute myeloid leukemia, Anemia, Leukemia, Erythroid hyperplasia, Hepatomegaly, Thrombocytopenia, ...	OMIM:133180
Glut1 Deficiency Syndrome 2	Reduced haptoglobin level, Hemolytic anemia, Choreoathetosis, Reticulocytosis, Ataxia, Splenomegaly	OMIM:612126
Glycoprotein Storage Disease	Splenomegaly	OMIM:232900
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Nonspherocytic hemolytic anemia, Jaundice, Splenomegaly	OMIM:206400
Alpha-Thalassemia-Myelodysplastic Syndrome	Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia, Splenomegaly, Microcytic anemia	ORPHA:231401
Ataxia-Pancytopenia Syndrome	Acute myelomonocytic leukemia, Abnormal macrophage morphology, Gait disturbance, Pancytopenia, Ab...	ORPHA:2585
Hypereosinophilic Syndrome, Idiopathic	Restrictive cardiomyopathy, Endocardial fibrosis, Hepatomegaly, Myeloproliferative disorder, Eosi...	OMIM:607685
Drug-Induced Lupus Erythematosus	Anemia, Pericardial effusion, Elevated circulating creatine kinase concentration, Pericarditis, I...	ORPHA:231111
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Asplenia, Splenomegaly, HbS hemoglobin, Reticulocytosis, Persistence of hemoglobin F, Hypochromic...	ORPHA:251380
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion	OMIM:183350
Cyanosis, Transient Neonatal	Anemia, Jaundice, Reticulocytosis, Hepatomegaly, Methemoglobinemia	OMIM:613977
Lymphoproliferative Syndrome, X-Linked, 1	Fulminant hepatitis, Lymphocytosis, Pancytopenia, Lymphadenopathy, Thrombocytopenia, Hemophagocyt...	OMIM:308240
Leishmaniasis	Leukopenia, Anemia, Abnormal macrophage morphology, Pancytopenia, Lymphadenopathy, Hepatomegaly, ...	ORPHA:507
Immunodeficiency 16	Coombs-positive hemolytic anemia, Splenomegaly, Pancytopenia	OMIM:615593
Trimethylaminuria	Anemia, Neutropenia, Splenomegaly	OMIM:602079
Autoinflammation With Infantile Enterocolitis	Anemia, Reduced natural killer cell count, Pancytopenia, Increased circulating ferritin concentra...	OMIM:616050
Dehydrated Hereditary Stomatocytosis 2	Increased mean corpuscular hemoglobin concentration, Hemolytic anemia, Hyperbilirubinemia, Jaundi...	OMIM:616689
Delta-Beta-Thalassemia	Anemia, Abnormal hemoglobin, Microcytic anemia	ORPHA:231237
Hemophagocytic Lymphohistiocytosis, Familial, 1	Increased total bilirubin, Leukopenia, Anemia, Increased VLDL cholesterol concentration, Jaundice...	OMIM:267700
Anemia, Congenital Dyserythropoietic, Type Iv	Reduced haptoglobin level, Anemia, Reduced hematocrit, Hemolytic anemia, Circulating nucleated re...	OMIM:613673
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Leukopenia, Anemia, Enlarged kidney, Hepatomegaly, Extramedullary hematopoiesis, Thrombocytopenia...	OMIM:615285
Acetophenetidin Sensitivity	Methemoglobinemia, Hemolytic anemia	OMIM:200300
Hemochromatosis, Type 2B	Cirrhosis, Increased serum iron, Hepatic fibrosis, Anemia, Elevated transferrin saturation, Incre...	OMIM:613313
Macrophage Activation Syndrome	Abnormal natural killer cell count, Anemia, Neutropenia, Hepatitis, Lymphadenopathy, Increased ci...	ORPHA:158061
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency	Hypermethioninemia, Decreased hepatic echogenicity, Increased circulating creatine kinase MM isof...	OMIM:613752
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Anemia, Microangiopathic hemolytic anemia, Increased blood urea nitrogen, Elevated circulating cr...	OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Anemia, Microangiopathic hemolytic anemia, Increased blood urea nitrogen, Elevated circulating cr...	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Anemia, Microangiopathic hemolytic anemia, Increased blood urea nitrogen, Elevated circulating cr...	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Anemia, Microangiopathic hemolytic anemia, Increased blood urea nitrogen, Elevated circulating cr...	OMIM:612926
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hemolytic anemia, Hepatitis, Lymphopenia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemi...	ORPHA:444463
Spinocerebellar Ataxia With Axonal Neuropathy Type 1	Hypoalbuminemia, Steppage gait, Ataxia, Hypercholesterolemia	ORPHA:94124
Methemoglobinemia, Beta Type	Methemoglobinemia	OMIM:617971
Methemoglobinemia, Alpha Type	Methemoglobinemia	OMIM:617973
Niemann-Pick Disease, Type B	Sea-blue histiocytosis, Anemia, Increased LDL cholesterol concentration, Decreased HDL cholestero...	OMIM:607616
Beta-Thalassemia	Anemia, Abnormality of iron homeostasis, Hepatitis, Hypertrophic cardiomyopathy, Hepatomegaly, Ch...	ORPHA:848
Hepatoportal Sclerosis	Nodular regenerative hyperplasia of liver, Leukopenia, Abnormal liver parenchyma morphology, Anem...	ORPHA:64743
Sickle Cell Anemia	Hemolytic anemia, Unconjugated hyperbilirubinemia, Increased mean corpuscular volume, Reticulocyt...	ORPHA:232
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Anemia, Microangiopathic hemolytic anemia, Increased blood urea nitrogen, Elevated circulating cr...	OMIM:612925
Anemia, Hypochromic Microcytic, With Iron Overload 2	Anemia, Elevated transferrin saturation, Poikilocytosis, Decreased mean corpuscular volume, Incre...	OMIM:615234
Splenoportal Vascular Anomalies	Hepatic fibrosis, Cirrhosis, Anomalous splenoportal venous system, Hyperammonemia, Ascites, Splen...	OMIM:271500
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Leukopenia, Anemia, Hyperuricemia, Pancytopenia, Increased blood urea nitrogen, Hyponatremia, Thr...	OMIM:613845
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Anemia, Hepatosplenomegaly, Lymphadenopathy, Increased circulating ferritin concentration, Hemoph...	OMIM:613101
Spherocytosis, Type 4	Hemolytic anemia, Hyperbilirubinemia, Jaundice, Reticulocytosis, Splenomegaly, Spherocytosis	OMIM:612653
Spherocytosis, Type 2	Hemolytic anemia, Hyperbilirubinemia, Jaundice, Reticulocytosis, Splenomegaly, Acanthocytosis, Sp...	OMIM:616649
Anemia, Congenital Dyserythropoietic, Type Ib	Anemia, Jaundice, Erythroid hyperplasia, Reticulocytosis, Poikilocytosis, Anisocytosis, Hepatomeg...	OMIM:615631
Persistent Polyclonal B-Cell Lymphocytosis	Lymphocytosis, Splenomegaly, Hepatomegaly	OMIM:606445
Neutropenia, Severe Congenital, 9, Autosomal Dominant	Splenomegaly	OMIM:619813
Acquired Idiopathic Sideroblastic Anemia	Acute myeloid leukemia, Neutropenia, Megaloblastic erythroid hyperplasia, Granulocytopenia, Normo...	ORPHA:75564
Hemophagocytic Lymphohistiocytosis, Familial, 2	Increased total bilirubin, Leukopenia, Anemia, Jaundice, Pancytopenia, Hepatosplenomegaly, Ataxia...	OMIM:603553
Cholestasis, Progressive Familial Intrahepatic, 12	Hyperbilirubinemia, Jaundice, Increased serum bile acid concentration, Hepatomegaly, Cholestasis,...	OMIM:620010
Overhydrated Hereditary Stomatocytosis	Stomatocytosis, Hemolytic anemia, Hyperbilirubinemia, Jaundice, Reticulocytosis, Hepatomegaly, Sp...	OMIM:185000
Pyruvate Kinase Deficiency Of Red Cells	Reduced haptoglobin level, Unconjugated hyperbilirubinemia, Jaundice, Erythroid hyperplasia, Reti...	OMIM:266200
Ras-Associated Autoimmune Leukoproliferative Disorder	Hemolytic anemia, Leukemia, Lymphocytosis, Pancytopenia, Autoimmune thrombocytopenia, Follicular ...	OMIM:614470
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Hyperbilirubinemia, Jaundice, Reticulocytosis, Cholecystitis, Cholelithiasis, ...	OMIM:235700
Dehydrated Hereditary Stomatocytosis	Increased total bilirubin, Intermittent jaundice, Increased mean corpuscular hemoglobin concentra...	ORPHA:3202
Refractory Anemia With Excess Blasts	Abnormal circulating albumin concentration, Acute myeloid leukemia, Abnormal mean corpuscular vol...	ORPHA:86839
Mantle Cell Lymphoma	Lymphadenopathy, Splenomegaly	ORPHA:52416
Spherocytosis, Type 5	Hemolytic anemia, Jaundice, Reticulocytosis, Abnormal platelet count, Abnormal leukocyte count, S...	OMIM:612690
Wolcott-Rallison Syndrome	Double outlet right ventricle, Abnormality of the liver, Lymphocytosis, Hyperbilirubinemia, Jaund...	ORPHA:1667
Autoimmune Hemolytic Anemia, Cold Type	Hemolytic anemia, Abnormal leukocyte morphology, Splenomegaly	ORPHA:228312
Spherocytosis, Type 1	Hemolytic anemia, Hyperbilirubinemia, Jaundice, Reticulocytosis, Cholelithiasis, Splenomegaly, Sp...	OMIM:182900
Thrombotic Thrombocytopenic Purpura, Hereditary	Prolonged neonatal jaundice, Microangiopathic hemolytic anemia, Jaundice, Reticulocytosis, Increa...	OMIM:274150
Congenital Enterovirus Infection	Leukopenia, Anemia, Neutropenia, Abnormal macrophage morphology, Pericardial effusion, Hepatitis,...	ORPHA:292
Bile Acid Synthesis Defect, Congenital, 5	Hepatic fibrosis, Increased total iron binding capacity, Hyperbilirubinemia, Jaundice, Portal fib...	OMIM:616278
Hypertriglyceridemia, Transient Infantile	Hepatic fibrosis, Hepatic steatosis, Hepatomegaly, Hypertriglyceridemia, Splenomegaly	OMIM:614480
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Anemia, Pancreatitis, Choreoathetosis, Hyperammonemia, Hepatomegaly, Thrombocytopenia, Neutropeni...	ORPHA:79312
Alpha-Thalassemia Myelodysplasia Syndrome	Hypochromic microcytic anemia, HbH hemoglobin, Reduced alpha/beta synthesis ratio	OMIM:300448
Rajab Interstitial Lung Disease With Brain Calcifications 2	Hepatosplenomegaly, Hepatic steatosis, Hypertriglyceridemia, Microcytic anemia, Hypoalbuminemia	OMIM:619013
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Heinz bodies, Unconjugated hyperbilirubinemia, Jaundice, Fava bean-induced hemolytic anemia, Reti...	OMIM:300908
Nephrotic Syndrome, Type 2	Hyperlipidemia, Hypoalbuminemia	OMIM:600995
Aicardi-Goutieres Syndrome 6	Hemolytic anemia, Loss of ambulation, Hepatomegaly, Thrombocytopenia, Splenomegaly	OMIM:615010
Alpha-Heavy Chain Disease	Anemia, Lymphadenopathy, Hepatomegaly, Ascites, Hypocalcemia, Splenomegaly	ORPHA:100025
Autoinflammation With Episodic Fever And Lymphadenopathy	Lymphadenopathy, Hepatomegaly, Splenomegaly, Microcytic anemia, Recurrent tonsillitis	OMIM:618852
Refractory Celiac Disease	Normocytic anemia, Hypophosphatemia, Abnormal spleen physiology, Increased proportion of HLA DR+ ...	ORPHA:398063
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Microangiopathic hemolytic anemia, Reticulocytosis, Increased blood urea nitrogen, Schistocytosis...	OMIM:235400
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Gait ataxia, Truncal ataxia, Limb ataxia, Ataxia, Elevated circulating creatine kinase concentrat...	OMIM:208920
Nephrotic Syndrome, Type 15	Hypoalbuminemia	OMIM:617609
Harderoporphyria	Hemolytic anemia, Reticulocytosis, Neonatal hyperbilirubinemia, Increased circulating ferritin co...	OMIM:618892
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Anemia, Hypersplenism, Hepatomegaly, Hypocholesterolemia, Thrombocytopenia, Splenomegaly	OMIM:610539
Anemia, Congenital Dyserythropoietic, Type Ii	Jaundice, Reticulocytosis, Cholelithiasis, Anemia of inadequate production, Splenomegaly	OMIM:224100
X-Linked Sideroblastic Anemia	Anemia, Abnormality of iron homeostasis, Splenomegaly	ORPHA:75563
Sea-Blue Histiocyte Disease	Sea-blue histiocytosis, Thrombocytopenia, Splenomegaly, Cirrhosis	OMIM:269600
Overhydrated Hereditary Stomatocytosis	Intermittent jaundice, Stomatocytosis, Hemolytic anemia, Abnormal mean corpuscular volume, Decrea...	ORPHA:3203
Immunodeficiency 104	T lymphocytopenia, Lymphadenopathy, Splenomegaly, Hepatomegaly	OMIM:608971
Immunodeficiency 84	Splenomegaly, B lymphocytopenia, Perianal abscess	OMIM:619437
Diarrhea 7, Protein-Losing Enteropathy Type	Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia	OMIM:615863
Eosinophilic Gastroenteritis	Anemia, Elevated circulating C-reactive protein concentration, Leukocytosis, Eosinophilia, Ascite...	ORPHA:2070
Anemia, Congenital Dyserythropoietic, Type Ia	Hemolytic anemia, Hyperbilirubinemia, Erythroid hyperplasia, Reticulocytosis, Macrocytic dyseryth...	OMIM:224120
Immunodeficiency 52	Increased proportion of gamma-delta T cells, Coombs-positive hemolytic anemia, Lymphopenia, Autoi...	OMIM:617514
Immunodeficiency 43	Reduced natural killer cell count, B lymphocytopenia, Lung abscess, Hypoproteinemia, Decreased ci...	OMIM:241600
Hb Bart'S Hydrops Fetalis	Anemia, Pericarditis, Hepatomegaly, Abnormal hemoglobin, Splenomegaly	ORPHA:163596
Combined Oxidative Phosphorylation Deficiency 41	Cardiomegaly, Anemia, Elevated circulating creatine kinase concentration	OMIM:618838
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Dilated cardiomyopathy, Elevated circulating creatine kinase concentration, Hyperammonemia, Hepat...	OMIM:600649
Erythroderma, Lethal Congenital	Hypoalbuminemia	OMIM:227090
Congenital Disorder Of Glycosylation, Type Iio	Cirrhosis, Cholestatic liver disease, Decreased circulating ceruloplasmin concentration, Hepatosp...	OMIM:616828
Lymphoproliferative Syndrome 1	Leukopenia, Anemia, Pericardial effusion, Pancytopenia, Autoimmune thrombocytopenia, Autoimmune h...	OMIM:613011
Erythrocytosis, Familial, 8	Increased hematocrit, Polycythemia, Increased hemoglobin, Splenomegaly	OMIM:222800
Galactosemia Iii	Jaundice, Hypergalactosemia, Splenomegaly, Hepatomegaly	OMIM:230350
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Hyperlysinemia, Abnormal circulating lipid concentration, Hypergalactosemia, Elevated circulating...	ORPHA:247598
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Anemia, Pancytopenia, Increased circulating ferritin concentration, Hemophagocytosis, Hypertrigly...	OMIM:618398
Mitochondrial Complex I Deficiency, Nuclear Type 39	Anemia, Perimembranous ventricular septal defect, Atrial septal defect, Hypertrophic cardiomyopat...	OMIM:620135
Glycogen Storage Disease Ixa1	Hyperuricemia, Hepatomegaly, Hypercholesterolemia, Hypertriglyceridemia, Splenomegaly	OMIM:306000
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Exercise-induced hemolysis, Increased mean corpuscular hemoglobin concentration, Hepatitis, Jaund...	OMIM:194380
Familial Hemophagocytic Lymphohistiocytosis	Anemia, Neutropenia, Jaundice, Lymphadenopathy, Increased circulating ferritin concentration, Hem...	ORPHA:540
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Anemia, Acute monocytic leukemia, Thrombocytosis, Eosinophilia, Monocytosis, Congenital agranuloc...	OMIM:202700
Analbuminemia	Increased LDL cholesterol concentration, Hypoalbuminemia, Elevated circulating transferrin concen...	OMIM:616000
Lymphoproliferative Syndrome, X-Linked, 2	Hepatitis, Pancytopenia, Increased circulating ferritin concentration, Hemophagocytosis, Hepatome...	OMIM:300635
Primary Intestinal Lymphangiectasia	Peritoneal effusion, Anemia, Reduced proportion of CD4+ effector memory T cells, Pericardial effu...	ORPHA:90362
Glycogen Storage Disease Ixb	Increased hepatic glycogen content, Hyperuricemia, Splenomegaly, Hepatomegaly	OMIM:261750
Interstitial Nephritis, Karyomegalic	Increased blood urea nitrogen, Elevated circulating creatinine concentration	OMIM:614817
Congenital Disorder Of Glycosylation, Type Ih	Anemia, Perimembranous ventricular septal defect, Ascites, Cholestasis, Hepatomegaly, Elevated ci...	OMIM:608104
Immunodeficiency 76	T lymphocytopenia, B lymphocytopenia, Lymphopenia, Lymphadenopathy, Splenomegaly	OMIM:619164
Chronic Myeloid Leukemia	Abnormal granulocyte morphology, Abnormal basophil morphology, Thrombocytosis, Leukocytosis, Myel...	ORPHA:521
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Acute myeloid leukemia, Anemia, Reduced natural killer cell count, Neutropenia, Hyperbilirubinemi...	ORPHA:158057
Thrombocytopenia With Beta-Thalassemia, X-Linked	Splenomegaly, Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Thrombocytopen...	OMIM:314050
Infantile Sialic Acid Storage Disease	Hepatomegaly, Cardiomegaly, Ascites, Vacuolated lymphocytes, Splenomegaly, Conjugated hyperbiliru...	OMIM:269920
Congenital Toxoplasmosis	Anemia, Ascites, Jaundice, Lymphadenopathy, Hepatomegaly, Cardiomegaly, Thrombocytopenia	ORPHA:858
Hemochromatosis, Type 2A	Cirrhosis, Increased serum iron, Dilated cardiomyopathy, Increased circulating ferritin concentra...	OMIM:602390
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Hepatic fibrosis, Jaundice, Elevated circulating gamma-aminobutyric acid concentration, Hepatic b...	OMIM:619658
Felty Syndrome	Neutropenia, Splenomegaly	OMIM:134750
Mast Cell Sarcoma	Mastocytosis, Lymphadenopathy, Hepatomegaly, Mediastinal lymphadenopathy, Splenomegaly	ORPHA:66661
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Neutropenia in presence of anti-neutropil antibodies, Autoimmune thrombocytopenia, Autoimmune hem...	OMIM:619220
Nephrotic Syndrome, Type 9	Hypoalbuminemia	OMIM:615573
Ornithine Transcarbamylase Deficiency	Hyperammonemia, Splenomegaly	ORPHA:664
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Anemia, Hypoproteinemia, Thrombocytosis, Hepatomegaly, Iron deficiency anemia, Ascites, Intestina...	OMIM:226300
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Cholelithiasis, Spontaneous hemolytic crises, Jaundice, Ataxia, Cholecystitis, Impaired neutrophi...	OMIM:613470
Cholestasis-Lymphedema Syndrome	Cirrhosis, Jaundice, Neonatal cholestatic liver disease, Hyperlipidemia, Hepatomegaly, Splenomega...	OMIM:214900
Hemochromatosis, Type 3	Cirrhosis, Anemia, Elevated transferrin saturation, Lymphopenia, Increased circulating ferritin c...	OMIM:604250
Cryohydrocytosis	Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis	OMIM:185020
Spinocerebellar Ataxia With Axonal Neuropathy Type 2	Gait imbalance, Choreoathetosis, Ataxia, Elevated circulating alpha-fetoprotein concentration, El...	ORPHA:64753
Mu-Heavy Chain Disease	Anemia, Abnormal B cell count, Lymphadenopathy, Hepatomegaly, Splenomegaly	ORPHA:100024
Focal Segmental Glomerulosclerosis 6	Hypoalbuminemia	OMIM:614131
Combined Oxidative Phosphorylation Deficiency 33	Left ventricular hypertrophy, Elevated circulating creatine kinase concentration, Hepatomegaly, C...	OMIM:617713
Mitochondrial Complex Iv Deficiency, Nuclear Type 7	Ventricular hypertrophy, Hyperalaninemia, Truncal ataxia, Limb ataxia, Hypertrophic cardiomyopath...	OMIM:619051
Thrombocytopenia, Anemia, And Myelofibrosis	Anemia, Thrombocytopenia, Anisopoikilocytosis, Splenomegaly	OMIM:617441
Pseudo-Torch Syndrome 3	Lymphadenitis, Anemia, Increased circulating ferritin concentration, Leukocytosis, Cardiomegaly, ...	OMIM:618886
Anemia, Sideroblastic, 5	Anemia, Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Neutropenia	OMIM:619523
Immunodeficiency 48	Absence of CD8-positive T cells, Splenomegaly, Hepatomegaly	OMIM:269840
Hereditary Elliptocytosis	Stomatocytosis, Congenital hemolytic anemia, Hemolytic anemia, Elliptocytosis, Hyperbilirubinemia...	ORPHA:288
Diamond-Blackfan Anemia 3	Reticulocytopenia, Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular vol...	OMIM:610629
Autoimmune Lymphoproliferative Syndrome	Chronic noninfectious lymphadenopathy, Coombs-positive hemolytic anemia, Neutropenia in presence ...	OMIM:601859
Ghosal Hematodiaphyseal Dysplasia	Anemia, Splenomegaly	ORPHA:1802
Hemolytic Disease Of Fetus And Newborn, Rh-Induced	Fetal ascites, Splenomegaly, Hepatomegaly	OMIM:619462
Coenzyme Q10 Deficiency, Primary, 3	Hypoalbuminemia	OMIM:614652
Tyrosinemia Type 1	Hepatocellular carcinoma, Splenomegaly, Hepatomegaly	ORPHA:882
Chylomicron Retention Disease	Hypocholesterolemia, Decreased LDL cholesterol concentration, Hypoalbuminemia, Hypotriglyceridemia	OMIM:246700
Immunodeficiency 97 With Autoinflammation	Reduced natural killer cell count, Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T ...	OMIM:619802
Alg6-Cdg	Decreased LDL cholesterol concentration, Abnormality of the liver, Jaundice, Ataxia, Hypoalbuminemia	ORPHA:79320
Mucopolysaccharidosis-Plus Syndrome	Leukopenia, Anemia, Inability to walk, Enlarged kidney, Atrial septal defect, Macrovesicular hepa...	OMIM:617303
Combined Immunodeficiency Due To Partial Rag1 Deficiency	T lymphocytopenia, B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Autoi...	ORPHA:231154
Alpha-1-Antitrypsin Deficiency	Cirrhosis, Reduced serum alpha-1-antitrypsin, Hepatocellular carcinoma, Splenomegaly	OMIM:613490
Attrv122I Amyloidosis	Anemia, Restrictive cardiomyopathy, Left ventricular hypertrophy, Increased circulating NT-proBNP...	ORPHA:85451
Progressive Familial Intrahepatic Cholestasis	Jaundice, Cholestasis, Hepatomegaly, Hypocalcemia, Splenomegaly	ORPHA:172
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	T lymphocytopenia, Increased proportion of transitional B cells, Lymphadenopathy, Decreased propo...	OMIM:615513
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Periportal fibrosis, Hepatocellular necrosis, Depletion of mitochondrial DNA in liver, Hyperbilir...	OMIM:251880
Spinocerebellar Ataxia, Autosomal Recessive 21	Gait ataxia, Hepatic fibrosis, Limb ataxia, Hepatic bridging fibrosis, Hepatomegaly, Splenomegaly	OMIM:616719
Fanconi Anemia, Complementation Group V	Anemia, Elevated circulating alpha-fetoprotein concentration, Bone marrow hypocellularity, Thromb...	OMIM:617243
Bone Marrow Failure Syndrome 6	Anemia, Lymphopenia, Persistence of hemoglobin F, Bone marrow hypocellularity, Increased mean cor...	OMIM:618849
Polycythemia Vera	Increased red blood cell mass, Increased hematocrit, Thrombocytosis, Leukocytosis, Thrombocytopen...	OMIM:263300
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Acute myeloid leukemia, Anemia, Pancytopenia, Bone marrow hypocellularity, Increased mean corpusc...	OMIM:619041
Beta-Thalassemia Intermedia	Cholelithiasis, Cirrhosis, Abnormality of iron homeostasis, Abnormality of the liver, Increased H...	ORPHA:231222
Griscelli Syndrome Type 2	Jaundice, Pancytopenia, Lymphadenopathy, Hemophagocytosis, Hyperlipidemia, Hepatomegaly, Neutrope...	ORPHA:79477
Neuraminidase Deficiency	Dysmetria, Bone-marrow foam cells, Hepatomegaly, Cardiomegaly, Ascites, Vacuolated lymphocytes, S...	OMIM:256550
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased B cell count, Generalized lymphadenopathy, Hepatosplenomegaly, Autoimmune thrombocytope...	OMIM:615559
Omenn Syndrome	Anemia, Hypoplasia of the thymus, B lymphocytopenia, Severe B lymphocytopenia, Lymphadenopathy, H...	OMIM:603554
Lipodystrophy, Congenital Generalized, Type 3	Hepatosplenomegaly, Hepatic steatosis, Hepatomegaly, Hypercholesterolemia, Hypocalcemia, Hypertri...	OMIM:612526
Mitochondrial Complex I Deficiency, Nuclear Type 36	Cardiomegaly, Hyperalaninemia, Hyperprolinemia, Perimembranous ventricular septal defect	OMIM:619170
Mitochondrial Complex Iv Deficiency, Nuclear Type 3	Hyperalaninemia, Ataxia, Increased serum pyruvate, Hyperprolinemia, Macrocytic anemia, Splenomega...	OMIM:619046
Familial Cold Autoinflammatory Syndrome 2	Splenomegaly, Lymphadenopathy, Elevated circulating C-reactive protein concentration, Leukocytosis	OMIM:611762
Ataxia-Oculomotor Apraxia 4	Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration, Ataxia, Hypercholesterolemia	OMIM:616267
Hodgkin Lymphoma	Ataxia, Lymphadenopathy, Splenomegaly, Hepatomegaly	ORPHA:98293
Sickle Cell Disease	Cholelithiasis, Hemolytic anemia, Target cells, Jaundice, Splenic infarction, Increased red cell ...	OMIM:603903
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Cirrhosis, Dilated cardiomyopathy, Hepatosplenomegaly, Abnormal cardiomyocyte morphology, Hepatom...	ORPHA:367
Hemochromatosis, Type 1	Cirrhosis, Increased serum iron, Hepatocellular carcinoma, Increased circulating ferritin concent...	OMIM:235200
Paternal Uniparental Disomy Of Chromosome 1	Episodic hemolytic anemia, Increased blood urea nitrogen, Enlarged kidney, Hypercalcemia	ORPHA:251004
Cholesteryl Ester Storage Disease	Cirrhosis, Jaundice, Hepatomegaly, Hypercholesterolemia, Hypertriglyceridemia, Splenomegaly	ORPHA:75234
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	B lymphocytopenia, Lymphadenopathy, Abnormal CD4:CD8 ratio, Neutropenia, Intermittent thrombocyto...	OMIM:150550
Apolipoprotein C-Ii Deficiency	Pancreatitis, Decreased circulating apolipoprotein C-II concentration, Hepatomegaly, Hypercholest...	OMIM:207750
Abetalipoproteinemia	Gait ataxia, Hepatic fibrosis, Decreased LDL cholesterol concentration, Cirrhosis, Anemia, Hyperb...	ORPHA:14
Congenital Enterocyte Heparan Sulfate Deficiency	Abnormal circulating polysaccharide concentration, Abnormal circulating protein concentration, Hy...	ORPHA:103910
Gray Platelet Syndrome	Thrombocytopenia, Splenomegaly	ORPHA:721
Hereditary Spherocytosis	Increased mean corpuscular hemoglobin concentration, Anemia, Restrictive cardiomyopathy, Spontane...	ORPHA:822
B-Cell Expansion With Nfkb And T-Cell Anergy	Increased B cell count, Splenomegaly	OMIM:616452
Diamond-Blackfan Anemia 4	Reticulocytopenia, Erythroid hypoplasia, Atrial septal defect, Macrocytic anemia, Neutropenia	OMIM:612527
Purine Nucleoside Phosphorylase Deficiency	Increased circulating inosine concentration, Neutropenia in presence of anti-neutropil antibodies...	OMIM:613179
Primary Membranoproliferative Glomerulonephritis	Hypoalbuminemia	ORPHA:54370
Alg1-Cdg	Cardiomyopathy, Abnormal heart morphology, Hypoalbuminemia	ORPHA:79327
Carnitine Deficiency, Systemic Primary	Cardiomyopathy, Microvesicular hepatic steatosis, Decreased plasma carnitine, Decreased carnitine...	OMIM:212140
Sitosterolemia 1	Reduced haptoglobin level, Stomatocytosis, Anemia, Giant platelets, Reticulocytosis, Elevated cir...	OMIM:210250
Immunodeficiency 7	Hypereosinophilia, Autoimmune hemolytic anemia, Lymphadenopathy, Hepatomegaly, Neutropenia, Splen...	OMIM:615387
Cockayne Syndrome Type 1	Anemia, Gait disturbance, Ataxia, Increased blood urea nitrogen, Difficulty walking, Hepatomegaly	ORPHA:90321
Galactose Epimerase Deficiency	Jaundice, Splenomegaly, Hepatomegaly	ORPHA:79238
Fish-Eye Disease	Lymphadenopathy, Decreased HDL cholesterol concentration, Splenomegaly, Hepatomegaly	ORPHA:79292
Combined Oxidative Phosphorylation Deficiency 10	Hyperalaninemia, Pericardial effusion, Hypertrophic cardiomyopathy, Hyperammonemia, Cardiomegaly,...	OMIM:614702
Amoebiasis Due To Entamoeba Histolytica	Abnormal pericardium morphology, Anemia, Liver abscess, Lung abscess, Constrictive pericarditis, ...	ORPHA:67
Immunodeficiency 42	Hypoplasia of the thymus, Splenomegaly, Hepatomegaly	OMIM:616622
Immunodeficiency 64 With Lymphoproliferation	Decreased proportion of CD4-positive T cells, Hepatosplenomegaly, Autoimmune thrombocytopenia, In...	OMIM:618534
Leukocyte Adhesion Deficiency, Type Iii	Abnormal lymph node morphology, Anemia, Hepatosplenomegaly, Hepatomegaly, Extramedullary hematopo...	OMIM:612840
Griscelli Syndrome	Leukopenia, Abnormal circulating lipid concentration, Hepatitis, Jaundice, Ataxia, Abnormality of...	ORPHA:381
Portal Hypertension, Noncirrhotic, 1	Portal hypertension, Splenomegaly, Hepatomegaly	OMIM:617068
Gaucher Disease, Type Iii	Pancytopenia, Ataxia, Hepatomegaly, Thrombocytopenia, Splenomegaly	OMIM:231000
Congenital Lethal Erythroderma	Hypoalbuminemia	ORPHA:1954
Thrombocythemia 1	Thrombocytosis, Splenomegaly	OMIM:187950
Mpi-Cdg	Portal hypertension, Hepatic fibrosis, Hepatomegaly, Hypoalbuminemia	ORPHA:79319
Glycosylphosphatidylinositol Biosynthesis Defect 1	Portal hypertension, Portal vein thrombosis, Splenomegaly, Hepatomegaly	OMIM:610293
Beta-Thalassemia	Hypochromic microcytic anemia, Reduced beta/alpha synthesis ratio	OMIM:613985
Alpha-Thalassemia	Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio	OMIM:604131
Elliptocytosis 1	Elliptocytosis, Hemolytic anemia, Jaundice, Splenomegaly	OMIM:611804
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopeni...	OMIM:300853
Fibronectin Glomerulopathy	Hypoalbuminemia	ORPHA:84090
Carnitine Palmitoyltransferase I Deficiency	Elevated circulating creatine kinase concentration, Transient hyperlipidemia, Hepatic steatosis, ...	OMIM:255120
Citrullinemia Type Ii	Hepatic fibrosis, Hepatocellular carcinoma, Acute hyperammonemia, Hepatic steatosis, Hypoproteine...	ORPHA:247585
Hemophagocytic Syndrome Associated With An Infection	Abnormal natural killer cell count, Abnormal T cell subset distribution, Anemia, Neutropenia, Pan...	ORPHA:158048
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Decreased proportion of marginal zone B cells, Coombs-positive hemolytic anemia, Autoimmune throm...	OMIM:619375
Neutropenia, Severe Congenital, 2, Autosomal Dominant	Monocytosis, Neutropenia, B lymphocytopenia	OMIM:613107
Nephrotic Syndrome, Type 14	Ataxia, Hypertriglyceridemia, Lymphopenia, Hypoalbuminemia	OMIM:617575
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Cardiomegaly, Hyperalaninemia, Hyperprolinemia, Hepatomegaly	OMIM:619064
Diamond-Blackfan Anemia 6	Ventricular hypertrophy, Ventricular septal defect, Mitral valve prolapse, Atrial septal defect, ...	OMIM:612561
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Ataxia, Elevated circulating creatine kinase concentration, Hepatic steatosis, Hyperammonemia, He...	ORPHA:42
Indolent Systemic Mastocytosis	Mastocytosis, Lymphadenopathy, Increased proportion of CD25+ mast cells, Hepatomegaly, Abnormal m...	ORPHA:98848
Adult-Onset Still Disease	Abnormal circulating lipid concentration, Hepatitis, Neutrophilia, Generalized lymphadenopathy, P...	ORPHA:829
Galloway-Mowat Syndrome 8	Hypoalbuminemia	OMIM:618349
Aicardi-Goutieres Syndrome 9	Hepatic fibrosis, Anemia, Hemolytic anemia, Pericardial effusion, Left ventricular hypertrophy, H...	OMIM:619487
Joubert Syndrome 33	Splenomegaly, Ataxia	OMIM:617767
Nephrotic Syndrome, Type 3	Hypoalbuminemia	OMIM:610725
Lysosomal Acid Lipase Deficiency	Leukopenia, Hepatic fibrosis, Cirrhosis, Anemia, Periportal fibrosis, Increased hepatic echogenic...	OMIM:278000
Osteopetrosis, Autosomal Recessive 8	Anemia, Thrombocytopenia, Splenomegaly, Hepatomegaly	OMIM:615085
Dopamine Beta-Hydroxylase Deficiency	Increased blood urea nitrogen, Anemia, Elevated circulating creatinine concentration	ORPHA:230
Al Amyloidosis	Anemia, Howell-Jolly bodies, Abnormality of the liver, Increased circulating NT-proBNP concentrat...	ORPHA:85443
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Gait ataxia, Unsteady gait, Thrombocytopenia, Normochromic anemia, Hypoalbuminemia	OMIM:254900
Ménétrier Disease	Hypochromic microcytic anemia, Hypoproteinemia, Hypoalbuminemia	ORPHA:2494
Immunodeficiency 98 With Autoinflammation, X-Linked	B lymphocytopenia, Autoimmune hemolytic anemia, Lymphadenopathy, Hemophagocytosis, Bone marrow hy...	OMIM:301078
Autoimmune Lymphoproliferative Syndrome, Type Iia	Chronic noninfectious lymphadenopathy, Increased B cell count, Coombs-positive hemolytic anemia, ...	OMIM:603909
Erythrocytosis, Familial, 1	Increased hematocrit, Increased red blood cell mass, Increased hemoglobin, Splenomegaly	OMIM:133100
Paroxysmal Nocturnal Hemoglobinuria	Reduced haptoglobin level, Leukopenia, Anemia, Hemolytic anemia, Unconjugated hyperbilirubinemia,...	ORPHA:447
Cholestasis-Lymphedema Syndrome	Cirrhosis, Jaundice, Acholic stools, Biliary tract abnormality, Neonatal cholestatic liver diseas...	ORPHA:1414
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Periportal fibrosis, Hepatocellular necrosis, Decreased plasma carnitine, Elevated circulating cr...	OMIM:201475
Schnitzler Syndrome	Anemia, Lymphadenopathy, Leukocytosis, Hepatomegaly, Splenomegaly	ORPHA:37748
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy	Gait ataxia, Truncal ataxia, Limb ataxia, Gait disturbance, Ataxia, Increased hepatic glycogen co...	OMIM:619259
Chronic Bilirubin Encephalopathy	Hemolytic anemia, Neonatal hyperbilirubinemia, Prolonged neonatal jaundice, Hypernatremia, Hypoal...	ORPHA:529808
Acute Bilirubin Encephalopathy	Hemolytic anemia, Neonatal hyperbilirubinemia, Prolonged neonatal jaundice, Hypernatremia, Hypoal...	ORPHA:529799
Niemann-Pick Disease, Type A	Sea-blue histiocytosis, Prolonged neonatal jaundice, Inability to walk, Lymphadenopathy, Bone-mar...	OMIM:257200
Nephrotic Syndrome, Type 6	Hypoalbuminemia	OMIM:614196
S-Adenosylhomocysteine Hydrolase Deficiency	Hypermethioninemia, Cardiomyopathy, Abnormality of the liver, Hyperhomocystinemia, Hepatocellular...	ORPHA:88618
Congenital Bile Acid Synthesis Defect Type 1	Cirrhosis, Jaundice, Biliary tract abnormality, Neonatal cholestatic liver disease, Hepatomegaly,...	ORPHA:79301
Tangier Disease	Left ventricular hypertrophy, Decreased HDL cholesterol concentration, Hepatomegaly, Decreased ci...	OMIM:205400
Cholestasis, Progressive Familial Intrahepatic, 3	Cirrhosis, Jaundice, Portal inflammation, Portal fibrosis, Intrahepatic cholestasis, Bile duct pr...	OMIM:602347
Congenital Disorder Of Glycosylation, Type Ib	Lymphangiectasis, Hepatic fibrosis, Cirrhosis, Hepatomegaly, Hypoalbuminemia	OMIM:602579
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis	Increased mean corpuscular volume, Elevated red cell adenosine deaminase level, Macrocytic anemia...	OMIM:300946
Cirrhotic Cardiomyopathy	Abnormal circulating A-type atrial natriuretic peptide concentration, Cirrhosis, Jaundice, Left v...	ORPHA:57777
Drug-Induced Autoimmune Hemolytic Anemia	Increased total bilirubin, Autoimmune hemolytic anemia, Splenomegaly	ORPHA:90037
Systemic-Onset Juvenile Idiopathic Arthritis	Pericarditis, Lymphadenopathy, Elevated circulating C-reactive protein concentration, Hepatomegal...	ORPHA:85414
Liver Failure, Infantile, Transient	Microvesicular hepatic steatosis, Jaundice, Hyperbilirubinemia, Hepatomegaly, Macrovesicular hepa...	OMIM:613070
Dominant Beta-Thalassemia	Hepatic fibrosis, Cirrhosis, Abnormality of iron homeostasis, Hypersplenism, Reduced hemoglobin A...	ORPHA:231226
Myopathy With Extrapyramidal Signs	Hyperlysinemia, Ventricular septal defect, Choreoathetosis, Ataxia, Elevated circulating creatine...	OMIM:615673
Beta-Thalassemia Major	Hepatic fibrosis, Cirrhosis, Abnormality of iron homeostasis, Hypersplenism, Anisopoikilocytosis,...	ORPHA:231214
Familial Atrial Myxoma	Bacterial endocarditis, Pulmonic valve myxoma, Jaundice, Cardiac myxoma, Cholestasis, Cardiomegal...	ORPHA:615
Immunodeficiency, Common Variable, 1	B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Lymphadenopathy, Decreas...	OMIM:607594
Avian Influenza	Leukopenia, Hepatitis, Lymphopenia, Elevated circulating creatine kinase concentration, Elevated ...	ORPHA:454836
Cardiomyopathy, Familial Hypertrophic, 27	Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Hypertrophic cardiomyopat...	OMIM:618052
Timothy Syndrome	Patent foramen ovale, Ventricular septal defect, Cardiomegaly, Hypocalcemia, Tetralogy of Fallot	OMIM:601005
Short Fifth Metacarpals-Insulin Resistance Syndrome	Splenomegaly, Spherocytosis	ORPHA:66518
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Decreased prealbumin level, Hepatitis, Neutropenia in presence of anti-neutropil antibodies, Redu...	ORPHA:37042
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Elliptocytosis, Poikilocytosis, Anisocytosis, Bone marrow hypocellularity, Macrocytic anemia, Thr...	OMIM:300835
Leigh Syndrome With Nephrotic Syndrome	Cardiomegaly, Hypoalbuminemia	ORPHA:255249
Nephrotic Syndrome, Type 11	Dilated cardiomyopathy, Hypoalbuminemia, Ventricular septal defect, Hypercholesterolemia	OMIM:616730
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Intraalveolar phospholipid accumulation, Splenomegaly, Leukocytosis	OMIM:618042
Sea-Blue Histiocytosis	Sea-blue histiocytosis, Hepatomegaly, Mediastinal lymphadenopathy, Thrombocytopenia, Splenomegaly	ORPHA:158029
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Ventricular hypertrophy, Microvesicular hepatic steatosis, Hemolytic anemia, Unconjugated hyperbi...	OMIM:618278
Free Sialic Acid Storage Disease	Gait disturbance, Ataxia, Hepatomegaly, Ascites, Athetosis, Splenomegaly	ORPHA:834
Primary Myelofibrosis	Anemia, Extramedullary hematopoiesis, Pancytopenia, Hepatosplenomegaly, Poikilocytosis, Lymphaden...	ORPHA:824
Uremic Pruritus	Increased blood urea nitrogen, Renal hypophosphatemia, Hypercalcemia, Hypermagnesemia	ORPHA:94059
Combined Oxidative Phosphorylation Deficiency 8	Hypertrophic cardiomyopathy, Cardiomegaly	OMIM:614096
Galloway-Mowat Syndrome 6	Hypoalbuminemia	OMIM:618347
Follicular Lymphoma	Abnormality of the peritoneum, Lymphadenopathy, Splenomegaly, Mediastinal lymphadenopathy	ORPHA:545
Glycogen Storage Disease Xii	Reduced haptoglobin level, Anemia, Normocytic anemia, Hyperbilirubinemia, Jaundice, Elevated circ...	OMIM:611881
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Decreased CD4:CD8 ratio, Autoimmune hemolytic anemia, Lymphadenopathy, Hepatomegaly, Splenomegaly	OMIM:618495
Lymphoproliferative Syndrome 2	Pancytopenia, Hepatosplenomegaly, Lymphadenopathy, Hemophagocytosis, Hepatomegaly, Ascites, Aplas...	OMIM:615122
Cholestasis, Progressive Familial Intrahepatic, 2	Intermittent jaundice, Cirrhosis, Hepatocellular carcinoma, Intrahepatic cholestasis, Hepatomegal...	OMIM:601847
Osteopetrosis, Autosomal Recessive 4	Anemia, Reticulocytosis, Hepatomegaly, Thrombocytopenia, Splenomegaly	OMIM:611490
Agammaglobulinemia 8B, Autosomal Recessive	Anemia, B lymphocytopenia, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Pancyt...	OMIM:619824
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive	Cirrhosis, Decreased circulating ceruloplasmin concentration, Decreased circulating copper concen...	OMIM:242150
Congenital Myopathy 8	Cardiomegaly	OMIM:618654
Neonatal Lupus Erythematosus	Anemia, Abnormality of the liver, Neutropenia, Hemolytic anemia, Dilated cardiomyopathy, Pancytop...	ORPHA:398124
Bacterial Toxic-Shock Syndrome	Hepatitis, Peritonitis, Increased circulating metamyelocyte count, Elevated circulating creatine ...	ORPHA:36234
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Patent foramen ovale, Leukopenia, Anemia, Inability to walk, Enlarged kidney, Atrial septal defec...	ORPHA:505248
Hurler-Scheie Syndrome	Splenomegaly, Abnormality of the tonsils, Hepatomegaly, Abnormal heart valve morphology, Cardiomy...	ORPHA:93476
Osteopetrosis, Autosomal Dominant 3	Anemia, Splenomegaly, Hepatomegaly	OMIM:618107
Wilson Disease	Cirrhosis, Anemia, Hemolytic anemia, Decreased circulating ceruloplasmin concentration, Increased...	OMIM:277900
Hepatocellular Carcinoma	Hemobilia, Anemia, Abnormality of the liver, Liver abscess, Hepatic necrosis, Hypokalemia, Hyperb...	ORPHA:88673
Refsum Disease, Classic	Cardiomegaly, Ataxia, Elevated circulating phytanic acid concentration, Cardiomyopathy	OMIM:266500
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Splenomegaly, Increased total iron binding capacity, Hyperglycinemia, Abnormality of the liver, D...	ORPHA:309854
Orthostatic Hypotension 1	Increased blood urea nitrogen, Hypomagnesemia	OMIM:223360
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects	Stomatocytosis, Hemolytic anemia, Inability to walk, Jaundice, Hyperkalemia, Ataxia, Hepatomegaly...	OMIM:608885
Hereditary Renal Hypouricemia	Increased blood urea nitrogen, Hypouricemia	ORPHA:94088
Deafness-Lymphedema-Leukemia Syndrome	Lymphadenopathy, Abnormal neutrophil count, Bone marrow hypocellularity, Hepatomegaly, Myeloproli...	ORPHA:3226
Glycogen Storage Disease Ii	Increased circulating NT-proBNP concentration, Elevated circulating creatine kinase concentration...	OMIM:232300
Ectodermal Dysplasia-Syndactyly Syndrome 2	Cardiomegaly	OMIM:613576
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Lymphadenitis, Hemolytic anemia, Perianal abscess, Granuloma, Lymphopenia, Hepatosplenomegaly, Ac...	OMIM:618935
Idiopathic Steroid-Resistant Nephrotic Syndrome	Abnormal circulating lipid concentration, Hypercholesterolemia, Peritonitis, Hypertriglyceridemia...	ORPHA:567548
Trichohepatoenteric Syndrome 1	Hypermethioninemia, Splenomegaly, Hepatic fibrosis, Abnormality of iron homeostasis, Ventricular ...	OMIM:222470
Chediak-Higashi Syndrome	Leukopenia, Anemia, Jaundice, Gait disturbance, Ataxia, Giant neutrophil granules, Lymphadenopath...	OMIM:214500
Mucopolysaccharidosis, Type Iiib	Cardiomegaly, Asymmetric septal hypertrophy, Splenomegaly, Hepatomegaly	OMIM:252920
Nephrotic Syndrome, Type 1	Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia	OMIM:256300
Cold Agglutinin Disease	Hemolytic anemia, Lymphadenopathy, Splenomegaly, Hepatomegaly	ORPHA:56425
Cinca Syndrome	Anemia, Abnormal granulocyte morphology, Abnormality of neutrophils, Lymphadenopathy, Elevated ci...	ORPHA:1451
Amyloidosis, Familial Visceral	Cholestasis, Splenomegaly, Hepatomegaly	OMIM:105200
Igg4-Related Retroperitoneal Fibrosis	Increased blood urea nitrogen, Elevated circulating creatinine concentration, Elevated circulatin...	ORPHA:49041
Portal Hypertension, Noncirrhotic, 2	Nodular regenerative hyperplasia of liver, Hepatocellular carcinoma, Hepatomegaly, Portal hyperte...	OMIM:619463
Hsd10 Disease, Infantile Type	Choreoathetosis, Hypertrophic cardiomyopathy, Loss of ambulation, Hyperammonemia, Cardiomegaly	ORPHA:391428
Attrv30M Amyloidosis	Cardiomegaly, Cardiomyopathy	ORPHA:85447
Congenital Disorder Of Glycosylation, Type Ia	Cardiomyopathy, Hepatic fibrosis, Pericardial effusion, Ataxia, Pericarditis, Hepatic steatosis, ...	OMIM:212065
Bile Acid Synthesis Defect, Congenital, 2	Jaundice, Hyperbilirubinemia, Intrahepatic cholestasis, Hepatomegaly, Splenomegaly	OMIM:235555
Symptomatic Form Of Hemochromatosis Type 1	Cirrhosis, Abnormality of iron homeostasis, Elevated transferrin saturation, Hepatocellular carci...	ORPHA:465508
Cholestasis, Progressive Familial Intrahepatic, 9	Jaundice, Malformation of the hepatic ductal plate, Intrahepatic cholestasis, Fibro-obliterative ...	OMIM:619849
Hereditary Methemoglobinemia	Methemoglobinemia, Athetosis	ORPHA:621
Gaucher Disease, Type Iiic	Splenomegaly, Mitral stenosis, Pancytopenia, Hepatomegaly, Cardiomegaly, Aortic valve calcificati...	OMIM:231005
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome	Splenomegaly, Pancytopenia	OMIM:614979
Wolman Disease	Anemia, Bone-marrow foam cells, Hepatomegaly, Ascites, Splenomegaly	ORPHA:75233
Hyperlipoproteinemia, Type I	Jaundice, Pancreatitis, Lactescent serum, Hepatosplenomegaly, Hyperlipidemia, Hypercholesterolemi...	OMIM:238600
Mcleod Syndrome	Reduced haptoglobin level, Dilated cardiomyopathy, Elevated circulating creatine kinase concentra...	OMIM:300842
46,Xy Sex Reversal 4	Increased blood urea nitrogen, Elevated circulating creatinine concentration	OMIM:154230
Gamma-Heavy Chain Disease	Anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphadenopathy, Hepatomegaly, ...	ORPHA:100026
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Cardiomegaly	OMIM:300886
Classic Hodgkin Lymphoma	Ataxia, Lymphadenopathy, Bone marrow hypocellularity, Hepatomegaly, Splenomegaly	ORPHA:391
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	B lymphocytopenia, Generalized lymphadenopathy, Lymphopenia, Abnormally low T cell receptor excis...	OMIM:602450
Glycogen Storage Disease Ixc	Cirrhosis, Increased hepatic glycogen content, Bile duct proliferation, Hepatomegaly, Hypertrigly...	OMIM:613027
Bile Acid Synthesis Defect, Congenital, 1	Cirrhosis, Jaundice, Acholic stools, Intrahepatic cholestasis, Giant cell hepatitis, Hepatomegaly...	OMIM:607765
Nephronophthisis 19	Hepatic fibrosis, Malformation of the hepatic ductal plate, Bile duct proliferation, Cholestasis,...	OMIM:616217
Congenitally Uncorrected Transposition Of The Great Arteries	Ventricular septal defect, Abnormal mitral valve morphology, Levotransposition of the great arter...	ORPHA:860
Hyperlipoproteinemia, Type Id	Recurrent pancreatitis, Decreased LDL cholesterol concentration, Pancreatitis, Hyperlipoproteinem...	OMIM:615947
Primary Familial Polycythemia	Abnormal hemoglobin, Polycythemia	ORPHA:90042
Cholestasis, Progressive Familial Intrahepatic, 1	Cirrhosis, Jaundice, Hepatomegaly, Cholelithiasis, Intrahepatic cholestasis with episodic jaundic...	OMIM:211600
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Jaundice, Hepatomegaly, Exocrine pancreatic insufficiency, Anemia of inadequate production, Splen...	OMIM:612714
Juvenile Polyposis Syndrome	Hypokalemia, Anemia, Hypoalbuminemia	OMIM:174900
Genetic Steroid-Resistant Nephrotic Syndrome	Peritonitis, Hypoalbuminemia	ORPHA:656
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Cardiomegaly, Inability to walk, Abnormal atrioventricular valve morphology, Mitral valve prolaps...	ORPHA:324410
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Tip-toe gait, Inability to walk, Elevated circulating creatine kinase concentration, Cardiomegaly...	ORPHA:268
Idiopathic Pulmonary Hemosiderosis	Iron deficiency anemia, Cardiomegaly, Hepatomegaly, Hepatosplenomegaly	ORPHA:99931
Primary Sclerosing Cholangitis	Hepatic fibrosis, Cirrhosis, Hepatitis, Jaundice, Pancreatitis, Hepatocellular carcinoma, Cholang...	ORPHA:171
Infantile Liver Failure Syndrome 3	Jaundice, Hepatic bridging fibrosis, Hepatic steatosis, Hyperammonemia, Cholestasis, Hepatomegaly...	OMIM:618641
Autoinflammation With Arthritis And Dyskeratosis	Hypereosinophilia, Autoimmune hemolytic anemia, Elevated circulating C-reactive protein concentra...	OMIM:617388
Congenital Analbuminemia	Increased alpha-globulin, Hypoproteinemia, Hyperlipidemia, Hypercholesterolemia, Hypoalbuminemia	ORPHA:86816
Wilson Disease	Cirrhosis, Anemia, Hepatitis, Jaundice, Hepatic steatosis, Acute hepatitis, Difficulty walking, H...	ORPHA:905
Mulibrey Nanism	Pericardial constriction, Myocardial fibrosis, Hepatomegaly, Cardiomegaly, Ascites	OMIM:253250
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin	Truncal ataxia, Limb ataxia, Broad-based gait, Persistence of hemoglobin F	OMIM:617101
Transaldolase Deficiency	Patent foramen ovale, Hepatic fibrosis, Cirrhosis, Anemia, Ventricular septal defect, Atrial sept...	OMIM:606003
Nephrotic Syndrome, Type 8	Hypoalbuminemia	OMIM:615244
Systemic Mastocytosis With Associated Hematologic Neoplasm	Acute myeloid leukemia, Myeloid leukemia, Increased basophil count, Chronic lymphatic leukemia, C...	ORPHA:98849
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Methemoglobinemia, Polycythemia	OMIM:250800
Omenn Syndrome	Anemia, Lymphadenopathy, Hepatomegaly, Eosinophilia, Leukocytosis, Splenomegaly, Abnormal lymphoc...	ORPHA:39041
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Increased blood urea nitrogen, Elevated circulating creatinine concentration	OMIM:223900
Legionnaires Disease	Endocarditis, Hepatitis, Jaundice, Pancreatitis, Lymphopenia, Ataxia, Pericarditis, Lymphadenopat...	ORPHA:549
Immunodeficiency 36 With Lymphoproliferation	Chronic lymphatic leukemia, Increased proportion of transitional B cells, B lymphocytopenia, Enla...	OMIM:616005
Niemann-Pick Disease, Type C1	Gait ataxia, Sea-blue histiocytosis, Ataxia, Fetal ascites, Bone-marrow foam cells, Hepatomegaly,...	OMIM:257220
Primary Biliary Cholangitis	Biliary cirrhosis, Abnormal circulating lipid concentration, Hepatic fibrosis, Cirrhosis, Hepatit...	ORPHA:186
Autoimmune Hemolytic Anemia	Hemolytic anemia, Abnormal leukocyte morphology, Splenomegaly	ORPHA:98375
Immunodeficiency 60 And Autoimmunity	Decreased proportion of memory B cells, Splenomegaly, Pancytopenia, Decreased basophil count	OMIM:618394
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency	Hepatic fibrosis, Cirrhosis, Hepatocellular adenoma, Hepatocellular carcinoma, Abnormal erythrocy...	ORPHA:370
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form	Anemia, Decreased plasma carnitine, Decreased serum iron, Dilated cardiomyopathy, Abnormal circul...	ORPHA:89842
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Lymphadenitis, Hepatic fibrosis, Anemia, Dilated cardiomyopathy, Elevated circulating creatine ki...	OMIM:615895
Chédiak-Higashi Syndrome	Inability to walk, Pericardial effusion, Hepatosplenomegaly, Hyponatremia, Thrombocytopenia, Abno...	ORPHA:167
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Hypermethioninemia, Cirrhosis, Microvesicular hepatic steatosis, Hyperbilirubinemia, Jaundice, Hy...	OMIM:617156
Felty Syndrome	Anemia, Pericarditis, Lymphadenopathy, Bone marrow hypocellularity, Hepatomegaly, Thrombocytopeni...	ORPHA:47612
Bile Acid Synthesis Defect, Congenital, 3	Cirrhosis, Hepatitis, Hyperbilirubinemia, Jaundice, Acholic stools, Hepatic bridging fibrosis, In...	OMIM:613812
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Ventricular septal defect, Pericardial effusion, Thyroid lymphangiectasia, Pulmonary lymphangiect...	OMIM:235510
Neurooculocardiogenitourinary Syndrome	Patent foramen ovale, Cardiomegaly, Ventricular septal defect, Atrial septal defect	OMIM:618652
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Increased total bilirubin, Cardiomegaly, Decreased plasma free carnitine, Enlarged kidney, Elevat...	OMIM:608836
Diarrhea 10, Protein-Losing Enteropathy Type	Pericardial effusion, Hyponatremia, Ascites, Hypocalcemia, Hypertriglyceridemia, Hypomagnesemia, ...	OMIM:618183
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	B lymphocytopenia, Sideroblastic anemia, Ataxia, Hypochromic microcytic anemia, Schistocytosis, S...	OMIM:616084
Gaucher Disease, Perinatal Lethal	Anemia, Akinesia, Ascites, Hepatosplenomegaly, Hepatomegaly, Cardiomegaly, Thrombocytopenia, Sple...	OMIM:608013
Marburg Hemorrhagic Fever	Leukopenia, Hypokalemia, Jaundice, Reticulocytosis, Elevated circulating creatine kinase concentr...	ORPHA:99826
Fixed Subaortic Stenosis	Atrioventricular canal defect, Bacterial endocarditis, Ventricular septal defect, Abnormal cardia...	ORPHA:3092
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2	Hypoalbuminemia	OMIM:614441
Combined Oxidative Phosphorylation Deficiency 37	Hyperalaninemia, Hypertrophic cardiomyopathy, Bile duct proliferation, Macrovesicular hepatic ste...	OMIM:618329
Congenital Tricuspid Valve Dysplasia	Patent foramen ovale, Cardiomegaly, Pericardial effusion, Abnormal tricuspid valve leaflet morpho...	ORPHA:555874
Gaucher Disease Type 1	Leukopenia, Cirrhosis, Anemia, Pericardial effusion, Hypersplenism, Pancytopenia, Biliary tract o...	ORPHA:77259
Caroli Disease	Biliary cirrhosis, Hepatic fibrosis, Cirrhosis, Periportal fibrosis, Liver abscess, Jaundice, Cho...	ORPHA:53035
Proteasome-Associated Autoinflammatory Syndrome 3	Anemia, Lymphopenia, Lymphadenopathy, Hepatomegaly, Thrombocytopenia, Hypertriglyceridemia, Splen...	OMIM:617591
Secondary Intestinal Lymphangiectasia	Cirrhosis, Decreased prealbumin level, Reduced circulating transferrin concentration, Lymphopenia...	ORPHA:90363
X-Linked Lymphoproliferative Disease	T lymphocytopenia, Hepatosplenomegaly, Increased T cell count, Bone marrow hypocellularity, Cervi...	ORPHA:2442
Gaucher Disease, Type I	Anemia, Hypersplenism, Pancytopenia, Hepatomegaly, Aortic valve stenosis, Thrombocytopenia, Splen...	OMIM:230800
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Cardiomyopathy, Elevated circulating acylcarnitine concentration, Decreased plasma free carnitine...	ORPHA:228308
Acute Panmyelosis With Myelofibrosis	Acute myeloid leukemia, Acute myelomonocytic leukemia, Lymphocytosis, Pancytopenia, Bone marrow h...	ORPHA:86843
Triosephosphate Isomerase Deficiency	Hemolytic anemia, Normocytic anemia, Jaundice, Chronic hemolytic anemia, Cholecystitis, Unsteady ...	OMIM:615512
Cardiomyopathy, Familial Hypertrophic, 4	Ventricular hypertrophy, Myofiber disarray, Pericardial effusion, Ventricular septal hypertrophy,...	OMIM:115197
Adams-Oliver Syndrome 6	Hepatic fibrosis, Ventricular septal defect, Truncus arteriosus, Portal hypertension, Splenomegaly	OMIM:616589
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Lymphopenia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphadenopathy, Hepatomeg...	OMIM:616100
Immunodeficiency 82 With Systemic Inflammation	Anemia, Reduced natural killer cell count, T lymphocytopenia, B lymphocytopenia, Hepatitis, Decre...	OMIM:619381
Alg12-Cdg	Patent foramen ovale, B lymphocytopenia, Biventricular hypertrophy, Muscular ventricular septal d...	ORPHA:79324
Shwachman-Diamond Syndrome 1	Acute myeloid leukemia, Anemia, Pancytopenia, Persistence of hemoglobin F, Myocardial necrosis, H...	OMIM:260400
Sclerosing Cholangitis, Neonatal	Biliary cirrhosis, Cirrhosis, Sclerosing cholangitis, Jaundice, Acholic stools, Portal fibrosis, ...	OMIM:617394
Amyloidosis, Hereditary, Transthyretin-Related	Cardiomegaly, Ataxia, Cardiomyopathy	OMIM:105210
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis	Neutrophilia, Elevated circulating C-reactive protein concentration, Hepatomegaly, Splenomegaly, ...	OMIM:612852
Insulin-Resistance Syndrome Type B	Leukopenia, Abnormal circulating lipid concentration, Biliary cirrhosis, Enlarged polycystic ovar...	ORPHA:2298
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Persistence of hemoglobin F, Ventricular septal defect, Atrial septal defect, Increased size of n...	OMIM:619769
Juvenile Polyposis Of Infancy	Anemia, Atrial septal defect, Abnormal heart morphology, Refractory anemia, Hypoalbuminemia	ORPHA:79076
Heterotaxy, Visceral, 1, X-Linked	Subvalvular aortic stenosis, Atrioventricular canal defect, Asplenia, Hepatomegaly, Abdominal sit...	OMIM:306955
Cantu Syndrome	Pericardial effusion, Cardiomegaly, Congenital hypertrophy of left ventricle, Bicuspid aortic valve	OMIM:239850
Gaucher Disease Type 3	Mitral valve calcification, Splenomegaly, Anemia, Pericardial effusion, Gait disturbance, Pancyto...	ORPHA:77261
Myelofibrosis	Splenomegaly, Myeloproliferative disorder	OMIM:254450
Tropical Endomyocardial Fibrosis	Restrictive cardiomyopathy, Coronary artery stenosis, Right ventricular cardiomyopathy, Endocardi...	ORPHA:75565
Sandhoff Disease	Cardiomegaly, Ataxia, Hepatomegaly, Hepatosplenomegaly	OMIM:268800
Alpha-N-Acetylgalactosaminidase Deficiency	Cardiomegaly	ORPHA:3137
Histiocytosis-Lymphadenopathy Plus Syndrome	Pancreatic hypoplasia, Retroperitoneal fibrosis, Ventricular septal defect, Pulmonic stenosis, Mi...	OMIM:602782
Fucosidosis	Spastic gait, Hepatomegaly, Cardiomegaly, Vacuolated lymphocytes, Splenomegaly	OMIM:230000
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hepatic fibrosis, Cirrhosis, Anemia, Hepatocellular adenoma, Abnormal erythrocyte enzyme level, P...	ORPHA:264580
Adams-Oliver Syndrome 5	Patent foramen ovale, Splenomegaly, Hypersplenism, Right ventricular hypertrophy, Portal vein thr...	OMIM:616028
Proteasome-Associated Autoinflammatory Syndrome 4	Autoimmune hemolytic anemia, Lymphadenopathy, Splenomegaly, Hepatomegaly	OMIM:619183
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Leukopenia, Anemia, Dilated cardiomyopathy, Pancytopenia, Hepatosplenomegaly, Lymphopenia, Ataxia...	OMIM:615688
Immunodeficiency With Hyper-Igm, Type 1	Cirrhosis, Hemolytic anemia, Hepatitis, Sclerosing cholangitis, Enlarged tonsils, Hepatomegaly, C...	OMIM:308230
Arterial Calcification, Generalized, Of Infancy, 2	Cardiomegaly, Hypophosphatemic rickets, Right atrial enlargement	OMIM:614473
Parenteral Nutrition-Associated Cholestasis	Cholelithiasis, Hepatic fibrosis, Biliary hyperplasia, Cirrhosis, Jaundice, Abnormal circulating ...	ORPHA:567983
Coronary Arterial Fistula	Patent foramen ovale, Cardiomegaly, Bacterial endocarditis, Bicuspid aortic valve, Atrial septal ...	ORPHA:2041
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Leukopenia, Anemia, Hypoplasia of the thymus, Perianal abscess, Pulmonic stenosis, Secundum atria...	OMIM:612541
Danon Disease	Dilated cardiomyopathy, Myocardial fibrosis, Elevated circulating creatine kinase concentration, ...	OMIM:300257
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Stomatocytosis, Splenomegaly, Hemolytic anemia, Thrombocytopenia, Increased mean platelet volume	OMIM:153670
Hyperparathyroidism, Neonatal Severe	Anemia, Calcinosis, Hypophosphatemia, Hypercalcemia, Hepatomegaly, Splenomegaly	OMIM:239200
Glycogen Storage Disease Ib	Hyperuricemia, Enlarged kidney, Pancreatitis, Hepatocellular carcinoma, Pancreatic fibrosis, Hype...	OMIM:232220
Gaisböck Syndrome	Increased mean corpuscular hemoglobin concentration, Hyperuricemia, Increased red blood cell coun...	ORPHA:90041
Lysinuric Protein Intolerance	Leukopenia, Anemia, Intraalveolar phospholipid accumulation, Pancreatitis, Hyperammonemia, Increa...	OMIM:222700
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome	HbH hemoglobin, Prolonged neonatal jaundice, Elevated amniotic fluid alpha-fetoprotein	ORPHA:423479
Renal-Hepatic-Pancreatic Dysplasia 1	Pancreatic cysts, Asplenia, Biliary cirrhosis, Hepatic fibrosis, Cirrhosis, Enlarged kidney, Poly...	OMIM:208540
Congenital Disorder Of Glycosylation, Type It	Ventricular septal defect, Hepatitis, Dilated cardiomyopathy, Elevated circulating creatine kinas...	OMIM:614921
Autoimmune Hemolytic Anemia, Warm Type	Autoimmune hemolytic anemia, Jaundice, Chronic lymphatic leukemia, Splenomegaly	ORPHA:90033
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16	HbH hemoglobin, Microcytic anemia	ORPHA:98791
Primary Lipodystrophy	Splenomegaly, Cirrhosis, Hepatic steatosis, Hyperlipidemia, Pancreatitis, Cardiomyopathy	ORPHA:90970
Immunodeficiency 47	Leukopenia, Hepatic fibrosis, Cirrhosis, Prolonged neonatal jaundice, Exocrine pancreatic insuffi...	OMIM:300972
Biotinidase Deficiency	Ataxia, Hyperammonemia, Splenomegaly, Hepatomegaly	OMIM:253260
Blackfan-Diamond Anemia	Acute myeloid leukemia, Leukopenia, Ventricular septal defect, Reticulocytopenia, Pure red cell a...	ORPHA:124
Familial Mediterranean Fever	Neutrophilia, Pericarditis, Elevated circulating C-reactive protein concentration, Hepatomegaly, ...	OMIM:249100
Niemann-Pick Disease, Type C2	Sea-blue histiocytosis, Jaundice, Ataxia, Fetal ascites, Bone-marrow foam cells, Hepatomegaly, Pr...	OMIM:607625
Mogs-Cdg	Left ventricular hypertrophy, Atrial septal defect, Hepatosplenomegaly, Hepatomegaly, Cardiomegal...	ORPHA:79330
Liver Disease, Severe Congenital	Subvalvular aortic stenosis, Portal inflammation, Elevated circulating alpha-fetoprotein concentr...	OMIM:619991
Kikuchi-Fujimoto Disease	Abnormal lymph node morphology, Leukopenia, Anemia, Neutropenia, Lymphocytosis, Generalized lymph...	ORPHA:50918
Primary Triglyceride Deposit Cardiomyovasculopathy	Coronary artery stenosis, Pancreatitis, Elevated circulating creatine kinase concentration, Abnor...	ORPHA:565612
Biliary, Renal, Neurologic, And Skeletal Syndrome	Atrioventricular canal defect, Biliary cirrhosis, Unbalanced atrioventricular canal defect, Secun...	OMIM:619534
Gray Platelet Syndrome	Thrombocytopenia, Splenomegaly, Abnormal number of alpha granules	OMIM:139090
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Hypertrophic cardiomyopathy, Ascites, Cardiomegaly, Ventricular septal defect	OMIM:616897
Isolated Right Ventricular Hypoplasia	Patent foramen ovale, Atrial septal defect, Muscular ventricular septal defect, Cardiomegaly, Rig...	ORPHA:439
Multiple Myeloma	Anemia, Lymphadenopathy, Hypercalcemia, Elevated circulating creatinine concentration, Hyperprote...	ORPHA:29073
Mastocytosis	Mastocytosis, Hypercalcemia, Hepatomegaly, Acute leukemia, Splenomegaly, Chronic leukemia	ORPHA:98292
Budd-Chiari Syndrome	Cirrhosis, Jaundice, Cholecystitis, Hepatomegaly, Portal hypertension, Ascites, Peritonitis, Sple...	ORPHA:131
Rajab Interstitial Lung Disease With Brain Calcifications 1	Cirrhosis, Anemia, Unconjugated hyperbilirubinemia, Pancytopenia, Hepatic steatosis, Bile duct pr...	OMIM:613658
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Left ventricular hypertrophy, Elevated circulating creatine kinase concentration, Hypertrophic ca...	ORPHA:308552
Tyrosinemia, Type I	Hypermethioninemia, Cirrhosis, Anemia, Enlarged kidney, Hepatocellular carcinoma, Elevated circul...	OMIM:276700
Xfe Progeroid Syndrome	Ascites, Hypoalbuminemia	OMIM:610965
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Partial atrioventricular canal defect, Ventricular septal defect, Inability to walk, Truncal atax...	OMIM:620066
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Anemia, Hypoalbuminemia	ORPHA:79396
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	B lymphocytopenia, Lymphopenia, Autoimmune thrombocytopenia, Severe B lymphocytopenia, Autoimmune...	OMIM:102700
Pearson Syndrome	Reticulocytosis, Hepatic steatosis, Bone marrow hypocellularity, Hepatomegaly, Thrombocytopenia, ...	ORPHA:699
Mitochondrial Complex Iv Deficiency, Nuclear Type 12	Hypoalbuminemia, Elevated circulating creatine kinase concentration	OMIM:619055
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Cardiomegaly	OMIM:613320
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Ascites, Hyperlipidemia, Hypoalbuminemia	ORPHA:567546
Methemoglobinemia And Ambiguous Genitalia	Methemoglobinemia	OMIM:250790
Aorta Coarctation	Aortic valve atresia, Perimembranous ventricular septal defect, Bicuspid aortic valve, Abnormal l...	ORPHA:1457
Syndromic Diarrhea	Hepatic fibrosis, Cirrhosis, Abnormality of iron homeostasis, Ventricular septal defect, Hypoplas...	ORPHA:84064
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Lymphadenitis, Liver abscess, Granulomatosis, Lymphadenopathy, Rectal abscess, Hepatomegaly, Impa...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Lymphadenitis, Liver abscess, Granulomatosis, Lymphadenopathy, Rectal abscess, Hepatomegaly, Impa...	OMIM:233710
Autoimmune Lymphoproliferative Syndrome	Coombs-positive hemolytic anemia, Hepatocellular carcinoma, Reticulocytosis, Bone marrow hypocell...	ORPHA:3261
Craniofaciofrontodigital Syndrome	Ventricular septal defect, Pericardial effusion, Bicuspid aortic valve, Atrial septal defect, Aor...	ORPHA:363705
Galloway-Mowat Syndrome 1	Ataxia, Hypoalbuminemia	OMIM:251300
Lead Poisoning	Abnormal T cell morphology, Anemia, Imbalanced hemoglobin synthesis, Increased LDL cholesterol co...	ORPHA:330015
Developmental And Epileptic Encephalopathy 95	Inability to walk, Gait disturbance, Ataxia, Hepatomegaly, Cardiomegaly	OMIM:618143
Chronic Visceral Acid Sphingomyelinase Deficiency	Cholelithiasis, Abnormal circulating lipid concentration, Cirrhosis, Hypersplenism, Neoplasm of t...	ORPHA:77293
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Lymphadenitis, Liver abscess, Granulomatosis, Lymphadenopathy, Rectal abscess, Hepatomegaly, Impa...	OMIM:233690
Lethal Congenital Contracture Syndrome 10	Cardiomegaly, Overriding aorta, Hypoplasia of the thymus, Ventricular septal defect	OMIM:617022
Acquired Methemoglobinemia	Methemoglobinemia	ORPHA:464453
Beck-Fahrner Syndrome	Cardiomegaly, Ventricular septal defect	OMIM:618798
Mucopolysaccharidosis Type 3	Abnormal mitral valve morphology, Abnormal aortic valve morphology, Gait disturbance, Adenoiditis...	ORPHA:581
Galloway-Mowat Syndrome 3	Hypoalbuminemia	OMIM:617729
Isolated Biliary Atresia	Atretic gallbladder, Cirrhosis, Periportal fibrosis, Jaundice, Acholic stools, Bile duct prolifer...	ORPHA:30391
Complete Atrioventricular Septal Defect	Primum atrial septal defect, Displacement of the papillary muscles, Complete atrioventricular can...	ORPHA:1329
Arterial Calcification, Generalized, Of Infancy, 1	Cardiomegaly, Hypophosphatemic rickets, Dilated cardiomyopathy	OMIM:208000
Familial Aortic Dissection	Cardiomegaly	ORPHA:229
Mucolipidosis Ii Alpha/Beta	Increased serum beta-hexosaminidase, Tip-toe gait, Enlarged kidney, Hypertrophic cardiomyopathy, ...	OMIM:252500
Smith-Lemli-Opitz Syndrome	Cirrhosis, Ventricular septal defect, Atrial septal defect, Hepatic steatosis, Hypertrophic cardi...	OMIM:270400
Fucosidosis	Abnormality of the gallbladder, Cardiomegaly, Hepatomegaly	ORPHA:349
Thymoma	Imbalanced hemoglobin synthesis, Aplastic anemia, Pure red cell aplasia, Leukemia	ORPHA:99867
Congenital Erythropoietic Porphyria	Reduced haptoglobin level, Abnormal circulating porphyrin concentration, Leukopenia, Hemolytic an...	ORPHA:79277
Goodpasture Syndrome	Increased blood urea nitrogen, Anemia	OMIM:233450
Glycogen Storage Disease Due To Acid Maltase Deficiency	Inability to walk, Left ventricular hypertrophy, Elevated circulating creatine kinase concentrati...	ORPHA:365
Granulomatous Disease, Chronic, X-Linked	Lymphadenitis, Liver abscess, Granuloma, Granulomatosis, Lymphadenopathy, Rectal abscess, Hepatom...	OMIM:306400
Reynolds Syndrome	Biliary cirrhosis, Calcinosis, Hyperbilirubinemia, Jaundice, Lymphopenia, Cholestasis, Hepatomega...	OMIM:613471
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Ventricular septal defect, Reduced alpha/beta synthesis ratio, Perimembranous ventricular septal ...	OMIM:301040
Glycogen Storage Disease Of Heart, Lethal Congenital	Pericardial effusion, Enlarged kidney, Hypertrophic cardiomyopathy, Biventricular hypertrophy, In...	OMIM:261740
Naxos Disease	Right ventricular cardiomyopathy, Abnormal morphology of right ventricular trabeculae, Dilated ca...	OMIM:601214
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Patent foramen ovale, Bicuspid aortic valve, Mitral valve prolapse, Left ventricular hypertrophy,...	OMIM:245600
Autosomal Recessive Polycystic Kidney Disease	Pancreatic cysts, Hepatic fibrosis, Biliary hyperplasia, Periportal fibrosis, Enlarged kidney, Ja...	ORPHA:731
Cantú Syndrome	Hypertrophic cardiomyopathy, Cardiomegaly, Abnormal heart valve morphology	ORPHA:1517
Proteasome-Associated Autoinflammatory Syndrome 1	Lymphadenopathy, Decreased HDL cholesterol concentration, Elevated circulating C-reactive protein...	OMIM:256040
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Anemia, Abnormal hemoglobin	ORPHA:847
Ogden Syndrome	Patent foramen ovale, Microvesicular hepatic steatosis, Ventricular septal defect, Perimembranous...	OMIM:300855
Aicardi-Goutières Syndrome	Chronic lymphatic leukemia, Hepatosplenomegaly, Hypertrophic cardiomyopathy, Neonatal alloimmune ...	ORPHA:51
Truncus Arteriosus	Hypoplasia of the thymus, Truncus arteriosus, Ventricular septal defect, Transposition of the gre...	ORPHA:3384
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Abnormality of the thymus, Cardiomegaly	ORPHA:2463
Lethal Acantholytic Erosive Disorder	Cardiomegaly, Cardiomyopathy	ORPHA:158687
Beckwith-Wiedemann Syndrome	Enlarged kidney, Polycythemia, Elevated circulating alpha-fetoprotein concentration, Hepatoblasto...	ORPHA:116
Familial Idiopathic Dilatation Of The Right Atrium	Atrial septal dilatation, Hepatomegaly, Abnormality of the hepatic vasculature, Cardiomegaly, Rig...	ORPHA:1677
Bohring-Opitz Syndrome	Inability to walk, Abnormal cardiac septum morphology, Annular pancreas, Cardiomegaly, Cholelithi...	ORPHA:97297
Congenital Tracheomalacia	Ventricular septal defect, Single ventricle, Atrial septal defect, Abnormal heart morphology, Par...	ORPHA:95430
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Patent foramen ovale, Ventricular septal defect, Atrial septal defect, Left ventricular noncompac...	OMIM:300967
Absence Of The Pulmonary Artery	Patent foramen ovale, Truncus arteriosus, Abnormal cardiac septum morphology, Atrial septal defec...	ORPHA:980
Williams Syndrome	Abnormal circulating lipid concentration, Gait imbalance, Ventricular septal defect, Abnormal car...	ORPHA:904
Histiocytoid Cardiomyopathy	Cardiomegaly, Ventricular septal defect, Hepatomegaly	ORPHA:137675
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Cardiomegaly, Bicuspid aortic valve	ORPHA:91387
Paternal Uniparental Disomy Of Chromosome 6	Cardiomegaly, Ventricular septal defect, Hepatomegaly	ORPHA:96191
Beckwith-Wiedemann Syndrome	Pancreatic hyperplasia, Enlarged kidney, Hepatoblastoma, Hepatomegaly, Cardiomegaly, Cardiomyopathy	OMIM:130650
Congenital Total Pulmonary Venous Return Anomaly	Double outlet right ventricle, Mitral atresia, Ventricular septal defect, Cardiac total anomalous...	ORPHA:99125
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Cardiomegaly	ORPHA:79280
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Hypoalbuminemia	OMIM:614748
Pmm2-Cdg	Hepatic fibrosis, Abnormal liver parenchyma morphology, Pericardial effusion, Impaired neutrophil...	ORPHA:79318
Yunis-Varon Syndrome	Ventricular septal defect, Atrial septal defect, Cardiomegaly, Tetralogy of Fallot, Cardiomyopathy	ORPHA:3472
Singleton-Merten Syndrome 1	Subvalvular aortic stenosis, Aortic valve stenosis, Cardiomegaly, Aortic valve calcification, Mit...	OMIM:182250
Generalized Arterial Calcification Of Infancy	Ventricular hypertrophy, Pancreatic calcification, Pericardial effusion, Myocardial calcification...	ORPHA:51608

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 Atp5l

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 Atp5l.

No publications found that use IMPC mice or data for Atp5l.

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MGI Allele	Allele Type	Produced
Atp5l^{tm1b(EUCOMM)Hmgu}	Reporter-tagged deletion allele (with selection cassette)	Mice
Atp5l^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells
Atp5l^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells

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Gene: Atp5l MGI:1351597

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

Adult LacZ

X-ray

Echo

Embryo LacZ

X-ray

Immunophenotyping

Auditory Brain Stem Response

Immunophenotyping

Human diseases caused by Atp5l mutations

Histopathology

IMPC related publications

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Access Data Release 19.0 Data