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Gene: Col9a3 MGI:894686

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Gene Summary

Name:
collagen, type IX, alpha 3
Synonyms:
N/A

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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
decreased prepulse inhibition Col9a3em1(IMPC)Tcp HOM Early adult 8.66×10-06
abnormal seminal vesicle morphology Col9a3em1(IMPC)Tcp HOM Early adult 0.00
increased circulating triglyceride level Col9a3em1(IMPC)Tcp HOM Early adult 6.48×10-05
enlarged spleen Col9a3em1(IMPC)Tcp HOM Early adult 0.00
enlarged lymph nodes Col9a3em1(IMPC)Tcp HOM Early adult 0.00
abnormal auditory brainstem response Col9a3em1(IMPC)Tcp HOM   Early adult 6.19×10-09
decreased body length Col9a3em1(IMPC)Tcp HOM Early adult 9.05×10-05

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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.

Eye Morphology

Images Slit Lamp

9 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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Eye Morphology

Images Ophthalmoscopy

98 Images

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Histopathology

Images

16 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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Gross Pathology and Tissue Collection

Images

8 Images

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Human diseases caused by Col9a3 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.

The table below shows human diseases associated to Col9a3 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Epiphyseal Dysplasia, Multiple, 3
Mildly elevated creatine kinase, Elevated circulating creatine kinase concentration OMIM:600969
Autosomal Recessive Stickler Syndrome
Sensorineural hearing impairment ORPHA:250984
Stickler Syndrome, Type Vi
Sensorineural hearing impairment OMIM:620022
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly
ORPHA:166002

The table below shows human diseases predicted to be associated to Col9a3 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Proteasome-Associated Autoinflammatory Syndrome 5
Hypertriglyceridemia, Splenomegaly, Hepatomegaly OMIM:619175
Fetal Cytomegalovirus Syndrome
Anemia, Sensorineural hearing impairment, Splenomegaly, Hepatomegaly ORPHA:294
Glycogen Storage Disease Vi
Hypercholesterolemia, Increased hepatic glycogen content, Hyperlipidemia, Hepatomegaly, Hypertrig... OMIM:232700
Hypertriglyceridemia, Transient Infantile
Hepatic fibrosis, Hepatic steatosis, Hepatomegaly, Hypertriglyceridemia, Splenomegaly OMIM:614480
Hemophagocytic Lymphohistiocytosis, Familial, 4
Anemia, Hypertriglyceridemia, Jaundice, Lymphadenopathy, Increased circulating ferritin concentra... OMIM:603552
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Anemia, Low-frequency sensorineural hearing impairment, Hepatosplenomegaly, Lymphadenopathy, Incr... OMIM:613101
Hypertriglyceridemia 2
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia OMIM:619324
Niemann-Pick Disease, Type B
Sea-blue histiocytosis, Anemia, Increased LDL cholesterol concentration, Decreased HDL cholestero... OMIM:607616
Hemophagocytic Lymphohistiocytosis, Familial, 3
Anemia, Hepatosplenomegaly, Hemophagocytosis, Granulocytopenia, Hypertriglyceridemia OMIM:608898
Atherosclerosis Susceptibility
Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:108725
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypertriglyceridemia, Hearing impairment, Hypercholester... OMIM:144300
Auditory Neuropathy, Autosomal Dominant 1
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:609129
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Sensorineural hearing impairment OMIM:601071
Morbid Obesity And Spermatogenic Failure
Azoospermia, Hepatic steatosis, Oligospermia, Increased LDL cholesterol concentration, Decreased ... OMIM:615703
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment OMIM:616515
Fish-Eye Disease
Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, Hypertriglyceri... OMIM:136120
Lipodystrophy, Congenital Generalized, Type 3
Hepatosplenomegaly, Hepatic steatosis, Hepatomegaly, Hypercholesterolemia, Hypocalcemia, Hypertri... OMIM:612526
Cholesteryl Ester Storage Disease
Cirrhosis, Jaundice, Hepatomegaly, Hypercholesterolemia, Hypertriglyceridemia, Splenomegaly ORPHA:75234
Neutral Lipid Storage Disease With Myopathy
Sensorineural hearing impairment, Elevated circulating creatine kinase concentration, Hepatic ste... OMIM:610717
Glycogen Storage Disease Ixa1
Hyperuricemia, Hepatomegaly, Hypercholesterolemia, Hypertriglyceridemia, Splenomegaly OMIM:306000
Lymphoproliferative Syndrome, X-Linked, 2
Hepatitis, Pancytopenia, Increased circulating ferritin concentration, Hemophagocytosis, Hepatome... OMIM:300635
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy OMIM:601382
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypertriglyceridemia ORPHA:366
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute myeloid leukemia, Anemia, Reduced natural killer cell count, Hypertriglyceridemia, Prostate... ORPHA:158057
Hyperlipoproteinemia, Type Iv
Hypertriglyceridemia, Increased VLDL cholesterol concentration, Hypopituitarism OMIM:144600
Hypertriglyceridemia 1
Hypertriglyceridemia, Increased VLDL cholesterol concentration, Hypopituitarism OMIM:145750
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hypertriglyceridemia, Hepatomegaly OMIM:615924
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Recurrent pancreatitis, Splenomegaly, Hyperlipoproteinemia OMIM:118830
Coronary Artery Disease, Autosomal Dominant 2
Increased LDL cholesterol concentration, Hypertriglyceridemia OMIM:610947
Hypercholesterolemia, Familial, 4
Hypertriglyceridemia, Decreased LDL cholesterol concentration, Hypercholesterolemia OMIM:603813
Lecithin:Cholesterol Acyltransferase Deficiency
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hemolytic anemia, Normochromic anemia OMIM:245900
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Tangier Disease
Left ventricular hypertrophy, Facial diplegia, Decreased HDL cholesterol concentration, Hepatomeg... OMIM:205400
Lysosomal Acid Lipase Deficiency
Leukopenia, Hepatic fibrosis, Cirrhosis, Anemia, Periportal fibrosis, Increased hepatic echogenic... OMIM:278000
Glycosylphosphatidylinositol Biosynthesis Defect 17
Hypertriglyceridemia OMIM:618010
Apolipoprotein C-Ii Deficiency
Pancreatitis, Decreased circulating apolipoprotein C-II concentration, Hepatomegaly, Hypercholest... OMIM:207750
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased total bilirubin, Leukopenia, Anemia, Increased VLDL cholesterol concentration, Jaundice... OMIM:267700
Ravine Syndrome
Abnormal auditory evoked potentials ORPHA:99852
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating creatine kina... OMIM:616516
Plin1-Related Familial Partial Lipodystrophy
Hepatic steatosis, Hepatic fibrosis, Hypertriglyceridemia, Polycystic ovaries ORPHA:280356
Lipase Deficiency, Combined
Hypertriglyceridemia, Pancreatitis OMIM:246650
Immunodeficiency 97 With Autoinflammation
Reduced natural killer cell count, Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T ... OMIM:619802
Macrophage Activation Syndrome
Abnormal natural killer cell count, Anemia, Hypertriglyceridemia, Hepatitis, Lymphadenopathy, Inc... ORPHA:158061
Glycogen Storage Disease Ixc
Cirrhosis, Increased hepatic glycogen content, Bile duct proliferation, Hepatomegaly, Hypertrigly... OMIM:613027
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Hepatic steatosis, Hypertriglyceridemia ORPHA:436182
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypopituitarism, Hepatosplenomegaly, Hepatic steatosis, Hypertriglyceridemia, Microcytic anemia, ... OMIM:619013
Optic Atrophy 8
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Prolonged somatosensory ev... OMIM:616648
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Hepatomegaly, Persistence of hemoglobin F ORPHA:46532
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Anemia, Pancytopenia, Increased circulating ferritin concentration, Hemophagocytosis, Hypertrigly... OMIM:618398
Cholestasis, Progressive Familial Intrahepatic, 10
Increased total bilirubin, Jaundice, Acholic stools, Portal fibrosis, Increased serum bile acid c... OMIM:619868
Papular Xanthoma
Histiocytosis, Hyperlipidemia ORPHA:158008
Hyperlipoproteinemia, Type Id
Recurrent pancreatitis, Splenomegaly, Decreased LDL cholesterol concentration, Hyperlipoproteinem... OMIM:615947
Hemoglobin H Disease
Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hepatomegaly, Splenomegaly OMIM:613978
Glycerol Kinase Deficiency
Low-set ears, Hypertriglyceridemia, Cryptorchidism OMIM:307030
Hyperlipoproteinemia, Type I
Splenomegaly, Jaundice, Hepatosplenomegaly, Lactescent serum, Hyperlipidemia, Hypercholesterolemi... OMIM:238600
Hemophagocytic Lymphohistiocytosis, Familial, 2
Increased total bilirubin, Leukopenia, Anemia, Jaundice, Pancytopenia, Hepatosplenomegaly, Lympha... OMIM:603553
Hyperbilirubinemia, Shunt, Primary
Jaundice, Hyperbilirubinemia, Erythroid hyperplasia, Reticulocytosis, Hepatomegaly, Anemia of ina... OMIM:237800
Temple Syndrome
Hypercholesterolemia, Precocious puberty, Decreased testicular size, Cryptorchidism, Hypertriglyc... OMIM:616222
Galactosemia Iii
Hypergalactosemia, Sensorineural hearing impairment, Jaundice, Hepatomegaly, Splenomegaly OMIM:230350
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Hepatitis, Lymphopenia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemi... ORPHA:444463
Hemochromatosis, Type 2B
Hepatic fibrosis, Cirrhosis, Anemia, Increased serum iron, Hypogonadism, Elevated transferrin sat... OMIM:613313
Cholesterol-Ester Transfer Protein Deficiency
Increased HDL cholesterol concentration, Hyperlipoproteinemia, Hyperlipidemia, Hypercholesterolem... ORPHA:79506
Cholestasis, Progressive Familial Intrahepatic, 12
Jaundice, Hyperbilirubinemia, Cholestasis, Hepatomegaly, Increased serum bile acid concentration,... OMIM:620010
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Absent brainstem auditory responses, Sensorineural hearing impairment, EEG abnormality, Facial palsy OMIM:617519
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Reduced natural killer cell count, Hypoplasia of the thymus, T lymphocytopenia, B lymphocytopenia... OMIM:619313
Citrullinemia, Type Ii, Adult-Onset
Hepatic fibrosis, Ballooning hepatocyte degeneration, Hepatocellular carcinoma, Portal inflammati... OMIM:603471
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Nonspherocytic hemolytic anemia, Jaundice, Splenomegaly OMIM:206400
Familial Hemophagocytic Lymphohistiocytosis
Anemia, Hypertriglyceridemia, Sensorineural hearing impairment, Jaundice, Lymphadenopathy, Increa... ORPHA:540
Cholestasis-Lymphedema Syndrome
Cirrhosis, Jaundice, Neonatal cholestatic liver disease, Hepatomegaly, Hyperlipidemia, Splenomega... OMIM:214900
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal motor evoked potentials, Abnormal auditory evoked potentials, Sensorineural hearing impa... ORPHA:320401
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Sensorineural hearing impairment, Hepatic steatosis, Male hypogonadism, Hepatomegaly, Cryptorchid... OMIM:615381
Akt2-Related Familial Partial Lipodystrophy
Hepatic steatosis, Polycystic ovaries, Hyperlipidemia, Hepatomegaly, Hypertriglyceridemia ORPHA:79085
Mast Cell Sarcoma
Mastocytosis, Lymphadenopathy, Mediastinal lymphadenopathy, Hypoplasia of the ear cartilage, Hepa... ORPHA:66661
Lipodystrophy, Familial Partial, Type 1
Acute pancreatitis, Hypertriglyceridemia, Hepatomegaly OMIM:608600
Hemoglobin D Disease
Anemia, Reduced alpha/beta synthesis ratio, HbS hemoglobin, Increased HbA2 hemoglobin, Reduced he... ORPHA:90039
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Hepatic fibrosis, Jaundice, Elevated circulating gamma-aminobutyric acid concentration, Hepatic b... OMIM:619658
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion OMIM:183350
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hyperlysinemia, Abnormal circulating lipid concentration, Hypergalactosemia, Hepatosplenomegaly, ... ORPHA:247598
Congenital Disorder Of Glycosylation, Type Iio
Hypercholesterolemia, Cirrhosis, Decreased circulating ceruloplasmin concentration, Hepatosplenom... OMIM:616828
Obesity Due To Congenital Leptin Deficiency
Orthostatic hypotension due to autonomic dysfunction, Decreased testicular size, Hypoplasia of th... ORPHA:66628
Citrullinemia, Type Ii, Neonatal-Onset
Hyperlysinemia, Cirrhosis, Microvesicular hepatic steatosis, Hyperthreoninemia, Hypermethioninemi... OMIM:605814
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Abnormal auditory evoked potentials, Progressive sensorineural hearing impairment, Optic atrophy OMIM:125250
Protoporphyria, Erythropoietic, 1
Hypertriglyceridemia, Hemolytic anemia, Cholelithiasis OMIM:177000
Nephrotic Syndrome, Type 14
Sensorineural hearing impairment, Hypogonadism, Lymphopenia, Cryptorchidism, Hypertriglyceridemia... OMIM:617575
Congenital Generalized Lipodystrophy
Precocious puberty in females, Cirrhosis, Increased C-peptide level, Overgrowth of external genit... ORPHA:528
Familial Partial Lipodystrophy, Dunnigan Type
Splenomegaly, Hepatic steatosis, Polycystic ovaries, Hepatomegaly, Hypertriglyceridemia, Pancreat... ORPHA:2348
Pparg-Related Familial Partial Lipodystrophy
Cirrhosis, Splenomegaly, Hyperuricemia, Hepatic steatosis, Polycystic ovaries, Hepatomegaly, Hype... ORPHA:79083
Cidec-Related Familial Partial Lipodystrophy
Hepatic steatosis, Polycystic ovaries, Hyperlipidemia, Hepatomegaly, Hypertriglyceridemia, Pancre... ORPHA:435651
Obesity Due To Leptin Receptor Gene Deficiency
Orthostatic hypotension due to autonomic dysfunction, Decreased testicular size, Hypoplasia of th... ORPHA:179494
Obesity Due To Melanocortin 4 Receptor Deficiency
Hypertriglyceridemia ORPHA:71529
Lipe-Related Familial Partial Lipodystrophy
Abnormal labia majora morphology, Elevated circulating creatine kinase concentration, Hepatic ste... ORPHA:435660
Red Cell Phospholipid Defect With Hemolysis
Intermittent jaundice, Hyperbilirubinemia, Splenomegaly, Reticulocytosis OMIM:179700
Autoinflammation With Episodic Fever And Lymphadenopathy
Lymphadenopathy, Hepatomegaly, Splenomegaly, Microcytic anemia, Recurrent tonsillitis OMIM:618852
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Hypercholesterolemia, Hepatic fibrosis, Cirrhosis, Hepatocellular carcinoma, Abnormal erythrocyte... ORPHA:370
Lipodystrophy, Familial Partial, Type 4
Hepatic steatosis, Hypertriglyceridemia OMIM:613877
Alpha-Heavy Chain Disease
Anemia, Hypocalcemia, Lymphadenopathy, Hepatomegaly, Ascites, Splenomegaly ORPHA:100025
Lipodystrophy, Familial Partial, Type 3
Cirrhosis, Hyperuricemia, Hepatic steatosis, Polycystic ovaries, Decreased HDL cholesterol concen... OMIM:604367
Severe Neurodegenerative Syndrome With Lipodystrophy
Hepatic steatosis, Cirrhosis, Hypertriglyceridemia, Hepatomegaly ORPHA:363400
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Genital ulcers, B lymphocytopenia, Generalized lymphadenopathy, Lymphopenia, Abnormally low T cel... OMIM:602450
Smith-Magenis Syndrome
EEG abnormality, Hypercholesterolemia, Hypertriglyceridemia, Morphological abnormality of the mid... OMIM:182290
Immunodeficiency 69
Anemia, Pancytopenia, Hepatosplenomegaly, Increased circulating ferritin concentration, Thrombocy... OMIM:618963
Glut1 Deficiency Syndrome 2
Reduced haptoglobin level, Hemolytic anemia, EEG abnormality, Reticulocytosis, Splenomegaly OMIM:612126
Hepatic Lipase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration OMIM:614025
Persistent Polyclonal B-Cell Lymphocytosis
Lymphocytosis, Splenomegaly, Hepatomegaly OMIM:606445
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Anemia, Congenital hemolytic anemia, Increased serum iron, Unconjugated hyperbilirubinemia, Eleva... ORPHA:766
Hypobetalipoproteinemia, Familial, 1
Decreased LDL cholesterol concentration, Steatorrhea, Decreased HDL cholesterol concentration, Hy... OMIM:615558
Beta-Thalassemia, Dominant Inclusion Body Type
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Persistence of he... OMIM:603902
Splenoportal Vascular Anomalies
Hepatic fibrosis, Cirrhosis, Anomalous splenoportal venous system, Hyperammonemia, Ascites, Splen... OMIM:271500
Erythroleukemia, Familial, Susceptibility To
Acute myeloid leukemia, Anemia, Splenomegaly, Erythroid hyperplasia, Hepatomegaly, Thrombocytopen... OMIM:133180
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hypercholesterolemia, Hepatic fibrosis, Cirrhosis, Anemia, Abnormal erythrocyte enzyme level, Por... ORPHA:264580
Charcot-Marie-Tooth Disease, Type 4D
Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Hearing impairment OMIM:601455
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Ambiguous genitalia, External genital hypoplasia, Decreased testicular size, Hypospadias, Ovotest... OMIM:610644
Citrullinemia Type Ii
Hypercholesterolemia, Hepatic fibrosis, Hepatocellular carcinoma, Acute hyperammonemia, Hepatic s... ORPHA:247585
Lipodystrophy, Familial Partial, Type 5
Hepatic steatosis, Increased C-peptide level, Hypertriglyceridemia, Hepatomegaly OMIM:615238
Tangier Disease
Anemia, Left ventricular hypertrophy, Hepatosplenomegaly, Facial diplegia, Hypocholesterolemia, O... ORPHA:31150
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased B cell count, Generalized lymphadenopathy, Hepatosplenomegaly, Autoimmune thrombocytope... OMIM:615559
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hypercholesterolemia, Hepatic fibrosis, Cirrhosis, Anemia, Hepatocellular carcinoma, Elevated cir... ORPHA:79240
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Thrombocytopenia, Abnormal hemoglobin, Splenomegaly ORPHA:231393
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hepatitis, Cholesterol gallstones, Hepatic steatosis, Increased LDL cholesterol concentration, Ch... ORPHA:209902
Hemochromatosis, Type 2A
Cirrhosis, Splenomegaly, Azoospermia, Increased circulating ferritin concentration, Hepatomegaly,... OMIM:602390
Immunodeficiency 16
Coombs-positive hemolytic anemia, Splenomegaly, Pancytopenia OMIM:615593
Proteasome-Associated Autoinflammatory Syndrome 3
Anemia, Lymphopenia, Lymphadenopathy, Hepatomegaly, Thrombocytopenia, Hypertriglyceridemia, Splen... OMIM:617591
Body Mass Index Quantitative Trait Locus 19
Hypertriglyceridemia, Hyperlipidemia OMIM:617885
Cholestasis-Lymphedema Syndrome
Cirrhosis, Jaundice, Acholic stools, Biliary tract abnormality, Neonatal cholestatic liver diseas... ORPHA:1414
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Cirrhosis, Anemia, Jaundice, Erythroid hyperplasia, Hepatosplenomegaly, Decreased mean corpuscula... OMIM:616860
H Syndrome
Hypertriglyceridemia, Hypogonadism, Decreased testicular size, Enlarged kidney, Azoospermia, Hepa... ORPHA:168569
Anemia, Hypochromic Microcytic, With Iron Overload 2
Anemia, Hypogonadism, Elevated transferrin saturation, Azoospermia, Poikilocytosis, Decreased mea... OMIM:615234
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Cirrhosis, Microvesicular hepatic steatosis, Anemia, Cholestatic liver disease, Exocrine pancreat... OMIM:619418
Immunodeficiency 27A
Anemia, Hepatosplenomegaly, Lymphadenopathy, Thrombocytosis, Leukocytosis, Histiocytosis, Enlarge... OMIM:209950
Tyrosinemia Type 1
Hepatocellular carcinoma, Splenomegaly, Hepatomegaly ORPHA:882
Bile Acid Synthesis Defect, Congenital, 5
Hepatic fibrosis, Increased total iron binding capacity, Jaundice, Hyperbilirubinemia, Portal fib... OMIM:616278
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency
Hypertriglyceridemia, Increased HDL cholesterol concentration ORPHA:140905
Ras-Associated Autoimmune Leukoproliferative Disorder
Splenomegaly, Hemolytic anemia, Lymphocytosis, Pancytopenia, Autoimmune thrombocytopenia, Follicu... OMIM:614470
Familial Cold Autoinflammatory Syndrome 2
Sensorineural hearing impairment, Lymphadenopathy, Elevated circulating C-reactive protein concen... OMIM:611762
Griscelli Syndrome Type 2
Jaundice, Pancytopenia, Lymphadenopathy, Hemophagocytosis, Hepatomegaly, Hyperlipidemia, Neutrope... ORPHA:79477
Mu-Heavy Chain Disease
Anemia, Abnormal B cell count, Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:100024
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Abnormal cranial nerve morphology, Prolonged brainstem... OMIM:601596
Abcd Syndrome
Total intestinal aganglionosis, Aganglionic megacolon, Abnormal auditory evoked potentials, Polyc... OMIM:600501
Immunodeficiency 76
T lymphocytopenia, B lymphocytopenia, Lymphopenia, Lymphadenopathy, Splenomegaly OMIM:619164
Lcat Deficiency
Decreased circulating apolipoprotein A-I concentration, Hypertriglyceridemia, Decreased HDL chole... ORPHA:650
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Leukopenia, Anemia, Enlarged kidney, Hepatomegaly, Extramedullary hematopoiesis, Thrombocytopenia... OMIM:615285
Follicular Lymphoma
Splenomegaly, Lymphadenopathy, Abnormality of the peritoneum, Mediastinal lymphadenopathy ORPHA:545
Immunodeficiency 64 With Lymphoproliferation
Decreased proportion of CD4-positive T cells, Hepatosplenomegaly, Autoimmune thrombocytopenia, In... OMIM:618534
Alstrom Syndrome
Hyperuricemia, Decreased response to growth hormone stimulation test, Chronic active hepatitis, P... OMIM:203800
Hurler-Scheie Syndrome
Abnormal nerve conduction velocity, Sensorineural hearing impairment, Hepatomegaly, Abnormality o... ORPHA:93476
Ataxia With Vitamin E Deficiency
Hypercholesterolemia, Abnormality of central somatosensory evoked potentials, Increased LDL chole... OMIM:277460
Fish-Eye Disease
Lymphadenopathy, Decreased HDL cholesterol concentration, Splenomegaly, Hepatomegaly ORPHA:79292
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin, Splenomegaly, Microcytic anemia ORPHA:231242
Smith-Magenis Syndrome
Precocious puberty, Conductive hearing impairment, EEG abnormality, Hypercholesterolemia, Hypertr... ORPHA:819
Idiopathic Steroid-Resistant Nephrotic Syndrome
Abnormal circulating lipid concentration, Hypercholesterolemia, Peritonitis, Hypertriglyceridemia... ORPHA:567548
Abdominal Obesity-Metabolic Syndrome 4
Increased LDL cholesterol concentration, Hypertriglyceridemia, Decreased HDL cholesterol concentr... OMIM:618620
Hemophagocytic Syndrome Associated With An Infection
Abnormal natural killer cell count, Abnormal T cell subset distribution, Anemia, Hyperproteinemia... ORPHA:158048
Chédiak-Higashi Syndrome
Anemia, Hypertriglyceridemia, Neutropenia, Jaundice, Pancytopenia, Hepatosplenomegaly, Lymphadeno... ORPHA:167
Alpha-Thalassemia
Anemia, Splenomegaly, Hemolytic anemia, Hypersplenism, Jaundice, Abnormal hemoglobin, Cholelithia... ORPHA:846
Immunodeficiency 42
Hypoplasia of the thymus, Splenomegaly, Hepatomegaly OMIM:616622
X-Linked Lymphoproliferative Disease
T lymphocytopenia, Hepatosplenomegaly, Increased T cell count, Bone marrow hypocellularity, Cervi... ORPHA:2442
Familial Chylomicronemia Syndrome
Recurrent pancreatitis, Jaundice, Hepatosplenomegaly, Hepatic steatosis, Acute pancreatitis, Hype... ORPHA:444490
Chylomicron Retention Disease
Hypertriglyceridemia, Steatorrhea, Hepatic steatosis, Hypocholesterolemia, Increased hepatocellul... ORPHA:71
Purine Nucleoside Phosphorylase Deficiency
Increased circulating inosine concentration, Neutropenia in presence of anti-neutropil antibodies... OMIM:613179
Dysbetalipoproteinemia
Hypercholesterolemia, Hepatic steatosis, Acute pancreatitis, Increased LDL cholesterol concentrat... ORPHA:412
Chronic Bilirubin Encephalopathy
Sensorineural hearing impairment, Hemolytic anemia, Abnormal auditory evoked potentials, Neonatal... ORPHA:529808
Acute Bilirubin Encephalopathy
Sensorineural hearing impairment, Hemolytic anemia, Abnormal auditory evoked potentials, Neonatal... ORPHA:529799
Anemia, Congenital Dyserythropoietic, Type Ii
Jaundice, Reticulocytosis, Cholelithiasis, Anemia of inadequate production, Splenomegaly OMIM:224100
Diarrhea 10, Protein-Losing Enteropathy Type
Elevated circulating thyroid-stimulating hormone concentration, Hypocalcemia, Cryptorchidism, Hyp... OMIM:618183
Mogs-Cdg
Sensorineural hearing impairment, Optic atrophy, External genital hypoplasia, Absent brainstem au... ORPHA:79330
Mohr-Tranebjaerg Syndrome
Postlingual sensorineural hearing impairment, Sensorineural hearing impairment, Prelingual sensor... ORPHA:52368
Autoimmune Lymphoproliferative Syndrome
Chronic noninfectious lymphadenopathy, Coombs-positive hemolytic anemia, Neutropenia in presence ... OMIM:601859
Focal Segmental Glomerulosclerosis 1
Anemia, Hyperlipidemia, Hypoalbuminemia OMIM:603278
Neutral Lipid Storage Disease With Ichthyosis
Small earlobe, Abnormal circulating creatine kinase concentration, Sensorineural hearing impairme... ORPHA:98907
Glycosylphosphatidylinositol Biosynthesis Defect 1
Portal hypertension, Portal vein thrombosis, Splenomegaly, Hepatomegaly OMIM:610293
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Splenomegaly, Hepatic steatosis, Polycystic ovaries, Decreased HDL cholesterol concentration, Hep... ORPHA:280365
Beta-Thalassemia
Anemia, Abnormality of iron homeostasis, Hepatitis, Hepatomegaly, Cholelithiasis, Hypogonadotropi... ORPHA:848
Anemia, Congenital Dyserythropoietic, Type Ib
Anemia, Jaundice, Erythroid hyperplasia, Reticulocytosis, Poikilocytosis, Anisocytosis, Hepatomeg... OMIM:615631
Hyperlipidemia, Familial Combined, 3
Hypercholesterolemia, Increased VLDL cholesterol concentration, Elevated circulating apolipoprote... OMIM:144250
Acrocraniofacial Dysostosis
Abnormal auditory evoked potentials, Conductive hearing impairment, Sensorineural hearing impairment OMIM:201050
Hemochromatosis, Type 1
Cirrhosis, Increased serum iron, Hepatocellular carcinoma, Azoospermia, Testicular atrophy, Incre... OMIM:235200
Autosomal Dominant Optic Atrophy Plus Syndrome
Absent brainstem auditory responses, Temporal optic disc pallor, Sensorineural hearing impairment... ORPHA:1215
Acquired Generalized Lipodystrophy
Abnormal circulating lipid concentration, Cirrhosis, Hepatic steatosis, Acute pancreatitis, Polyc... ORPHA:79086
Harderoporphyria
Hemolytic anemia, Reticulocytosis, Neonatal hyperbilirubinemia, Increased circulating ferritin co... OMIM:618892
Pyruvate Kinase Deficiency Of Red Cells
Reduced haptoglobin level, Unconjugated hyperbilirubinemia, Jaundice, Erythroid hyperplasia, Reti... OMIM:266200
Glycogen Storage Disease Iii
Hepatic fibrosis, Hyperlipidemia, Hepatomegaly, Elevated circulating creatine kinase concentration OMIM:232400
Lysinuric Protein Intolerance
Hepatosplenomegaly, Hepatomegaly, Hypercholesterolemia, Thrombocytopenia, Increased serum zinc, H... ORPHA:470
Lipodystrophy, Congenital Generalized, Type 4
Elevated circulating creatine kinase concentration, Hepatic steatosis, Hepatomegaly, Hypertriglyc... OMIM:613327
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Abnormal auditory evoked potentials, Optic disc pallor OMIM:617523
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hepatic fibrosis, Cirrhosis, Hepatocellular carcinoma, Portal fibrosis, Increased hepatic glycoge... ORPHA:369
Leukocyte Adhesion Deficiency, Type Iii
Abnormal lymph node morphology, Anemia, Hepatosplenomegaly, Leukocytosis, Extramedullary hematopo... OMIM:612840
Portal Hypertension, Noncirrhotic, 1
Portal hypertension, Splenomegaly, Hepatomegaly OMIM:617068
Cholestasis, Progressive Familial Intrahepatic, 3
Cirrhosis, Jaundice, Portal inflammation, Portal fibrosis, Intrahepatic cholestasis, Bile duct pr... OMIM:602347
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Splenomegaly, Normocytic anemia, Jaundice, Hyperbilirubinemia, Reticulocytosis, Cholecystitis, No... OMIM:235700
Diarrhea 7, Protein-Losing Enteropathy Type
Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia OMIM:615863
Lysosomal Acid Lipase Deficiency
Hypercholesterolemia, Hepatic fibrosis, Microvesicular hepatic steatosis, Anemia, Hypersplenism, ... ORPHA:275761
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular hemoglobin concentration, Hemolytic anemia, Jaundice, Anisopoikilocyto... OMIM:616689
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Abnormal auditory evoked potentials, Optic disc pallor, Sensorineural hearing impairment OMIM:619260
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Reduced natural killer cell count, Decreased proportion of CD4-positive helper T cells, Jaundice,... ORPHA:276
Hepatoportal Sclerosis
Nodular regenerative hyperplasia of liver, Leukopenia, Anemia, Periportal fibrosis, Hypersplenism... ORPHA:64743
Anemia, Congenital Dyserythropoietic, Type Iv
Unconjugated hyperbilirubinemia, Reticulocytosis, Hepatosplenomegaly, Hepatomegaly, Splenomegaly,... OMIM:613673
Lymphoproliferative Syndrome 1
Leukopenia, Anemia, Pancytopenia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymph... OMIM:613011
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating creatine kina... ORPHA:98855
Fanconi-Bickel Syndrome
Abnormal hepatic glycogen storage, Hypophosphatemia, Hepatocellular carcinoma, Increased hepatic ... ORPHA:2088
Lipodystrophy, Congenital Generalized, Type 1
Cirrhosis, Macrotia, Labial hypertrophy, Hepatic steatosis, Acute pancreatitis, Polycystic ovarie... OMIM:608594
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:109120
X-Linked Emery-Dreifuss Muscular Dystrophy
Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating creatine kina... ORPHA:98863
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating creatine kina... ORPHA:98853
Emery-Dreifuss Muscular Dystrophy
Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating creatine kina... ORPHA:261
Bile Acid Synthesis Defect, Congenital, 1
Cirrhosis, Jaundice, Acholic stools, Steatorrhea, Intrahepatic cholestasis, Giant cell hepatitis,... OMIM:607765
Nephrotic Syndrome, Type 2
Hyperlipidemia, Hypoalbuminemia OMIM:600995
Gaisböck Syndrome
Increased mean corpuscular hemoglobin concentration, Hyperproteinemia, Hyperuricemia, Increased r... ORPHA:90041
Osteopetrosis, Autosomal Recessive 4
Anemia, Optic atrophy, Reticulocytosis, Hepatomegaly, Thrombocytopenia, Optic disc pallor, Spleno... OMIM:611490
Lipodystrophy, Congenital Generalized, Type 2
Cirrhosis, Macrotia, Labial hypertrophy, Hepatic steatosis, Acute pancreatitis, Polycystic ovarie... OMIM:269700
Chronic Visceral Acid Sphingomyelinase Deficiency
Cirrhosis, Abnormal circulating lipid concentration, Hypersplenism, Neoplasm of the liver, Acute ... ORPHA:77293
Lipodystrophy, Familial Partial, Type 2
Labial pseudohypertrophy, Hepatic steatosis, Acute pancreatitis, Polycystic ovaries, Decreased HD... OMIM:151660
Hemoglobin E Disease
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Hypochromi... ORPHA:2133
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Asplenia, Splenomegaly, HbS hemoglobin, Reticulocytosis, Persistence of hemoglobin F, Hypochromic... ORPHA:251380
Spherocytosis, Type 1
Hemolytic anemia, Jaundice, Hyperbilirubinemia, Reticulocytosis, Cholelithiasis, Splenomegaly, Sp... OMIM:182900
Ornithine Transcarbamylase Deficiency
Hyperammonemia, Splenomegaly ORPHA:664
Arthrogryposis, Distal, Type 2A
Abnormal auditory evoked potentials, Hearing impairment, Cryptorchidism OMIM:193700
Mandibuloacral Dysplasia
Hypertriglyceridemia, Increased circulating free fatty acid level, Hypercholesterolemia ORPHA:2457
Dehydrated Hereditary Stomatocytosis
Intermittent jaundice, Increased mean corpuscular hemoglobin concentration, Increased total bilir... ORPHA:3202
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Sensorineural hearing impairment, Abnormal autonomic nervous system physiology, Aganglionic megac... OMIM:609136
Sclerosing Cholangitis, Neonatal
Biliary cirrhosis, Cirrhosis, Sclerosing cholangitis, Jaundice, Acholic stools, Portal fibrosis, ... OMIM:617394
Cockayne Syndrome Type 1
Anemia, Macrotia, Abnormality of peripheral nerve conduction, Optic atrophy, Absent brainstem aud... ORPHA:90321
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Precocious puberty, Multifocal epileptiform discharges, EEG with generalized sharp slow waves, He... ORPHA:369837
Nephronophthisis 19
Hepatic fibrosis, Malformation of the hepatic ductal plate, Bile duct proliferation, Cholestasis,... OMIM:616217
Autoimmune Lymphoproliferative Syndrome, Type Iia
Chronic noninfectious lymphadenopathy, Increased B cell count, Coombs-positive hemolytic anemia, ... OMIM:603909
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Absent brainstem auditory responses, Hypochromic microcytic anemia, Increased circulating ferriti... ORPHA:3240
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypercholesterolemia, Chronic neutropenia, Anemia, Hyperuricemia, Enlarged kidney, Hepatocellular... ORPHA:79259
Late-Infantile/Juvenile Krabbe Disease
EEG with persistent abnormal rhythmic activity, Prolonged brainstem auditory evoked potentials, D... ORPHA:206443
Systemic-Onset Juvenile Idiopathic Arthritis
Elevated circulating C-reactive protein concentration, Lymphadenopathy, Splenomegaly, Hepatomegaly ORPHA:85414
Overhydrated Hereditary Stomatocytosis
Stomatocytosis, Hemolytic anemia, Jaundice, Hyperbilirubinemia, Reticulocytosis, Hepatomegaly, Sp... OMIM:185000
Cholestasis, Progressive Familial Intrahepatic, 9
Jaundice, Malformation of the hepatic ductal plate, Intrahepatic cholestasis, Fibro-obliterative ... OMIM:619849
Spherocytosis, Type 4
Hemolytic anemia, Jaundice, Hyperbilirubinemia, Reticulocytosis, Splenomegaly, Spherocytosis OMIM:612653
Beta-Thalassemia Intermedia
Cholelithiasis, Cirrhosis, Abnormality of the liver, Abnormality of iron homeostasis, Hypogonadis... ORPHA:231222
Immunodeficiency 87 And Autoimmunity
Decreased CD4:CD8 ratio, Hemolytic anemia, Jaundice, Hypokalemia, Decreased proportion of CD4-pos... OMIM:619573
Bile Acid Synthesis Defect, Congenital, 2
Jaundice, Hyperbilirubinemia, Steatorrhea, Intrahepatic cholestasis, Hepatomegaly, Splenomegaly OMIM:235555
Xp21 Deletion Syndrome
Hypogonadotropic hypogonadism, Hypertriglyceridemia, Elevated circulating creatine kinase concent... ORPHA:261476
Cholestasis, Progressive Familial Intrahepatic, 2
Intermittent jaundice, Cirrhosis, Hepatocellular carcinoma, Intrahepatic cholestasis, Hepatomegal... OMIM:601847
Spherocytosis, Type 2
Hemolytic anemia, Jaundice, Hyperbilirubinemia, Reticulocytosis, Splenomegaly, Acanthocytosis, Sp... OMIM:616649
Omenn Syndrome
Anemia, Hypoplasia of the thymus, B lymphocytopenia, Severe B lymphocytopenia, Lymphadenopathy, H... OMIM:603554
Cholestasis, Progressive Familial Intrahepatic, 1
Cirrhosis, Jaundice, Hepatomegaly, Cholelithiasis, Intrahepatic cholestasis with episodic jaundic... OMIM:211600
Bile Acid Synthesis Defect, Congenital, 3
Cirrhosis, Hepatitis, Jaundice, Hyperbilirubinemia, Acholic stools, Steatorrhea, Hepatic bridging... OMIM:613812
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Exercise-induced hemolysis, Increased mean corpuscular hemoglobin concentration, Splenomegaly, He... OMIM:194380
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Abnormal fallopian tube morphology, Pulmonary lymphangiectasia, Hypocalcemia, Hepatosplenomegaly,... ORPHA:1655
Werner Syndrome
Hypertriglyceridemia, Elevated hemoglobin A1c, Hypogonadism OMIM:277700
Parenteral Nutrition-Associated Cholestasis
Hepatic fibrosis, Biliary hyperplasia, Cirrhosis, Jaundice, Abnormal circulating fatty-acid conce... ORPHA:567983
Primary Lipodystrophy
Cirrhosis, Splenomegaly, Hepatic steatosis, Polycystic ovaries, Hyperlipidemia, Pancreatitis ORPHA:90970
Lipodystrophy, Familial Partial, Type 6
Hepatic steatosis, Abnormal circulating lipid concentration, Hyperlipidemia, Elevated circulating... OMIM:615980
Spherocytosis, Type 5
Hemolytic anemia, Jaundice, Reticulocytosis, Abnormal platelet count, Abnormal leukocyte count, S... OMIM:612690
Proteasome-Associated Autoinflammatory Syndrome 1
Macrotia, Elevated circulating thyroid-stimulating hormone concentration, Epididymitis, Lymphaden... OMIM:256040
Seckel Syndrome 10
Hepatic steatosis, Acute pancreatitis, Elevated circulating luteinizing hormone level, Elevated h... OMIM:617253
Cockayne Syndrome A
Sensorineural hearing impairment, Optic atrophy, Hypogonadism, Abnormal auditory evoked potential... OMIM:216400
Sitosterolemia 1
Stomatocytosis, Hypercholesterolemia, Anemia, Reduced haptoglobin level, Reticulocytosis, Elevate... OMIM:210250
Abdominal Obesity-Metabolic Syndrome 3
Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia OMIM:615812
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Heinz bodies, Unconjugated hyperbilirubinemia, Jaundice, Fava bean-induced hemolytic anemia, Reti... OMIM:300908
Erythrocytosis, Familial, 8
Increased hematocrit, Splenomegaly, Increased hemoglobin, Polycythemia OMIM:222800
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Cholelithiasis, Spontaneous hemolytic crises, Jaundice, Cholecystitis, Impaired neutrophil bacter... OMIM:613470
Agammaglobulinemia, X-Linked
Anemia, T lymphocytopenia, B lymphocytopenia, Prostatitis, Enteroviral hepatitis, Hepatocellular ... OMIM:300755
Anemia, Congenital Dyserythropoietic, Type Ia
Hemolytic anemia, Hyperbilirubinemia, Erythroid hyperplasia, Reticulocytosis, Macrocytic dyseryth... OMIM:224120
Adult Krabbe Disease
Prolonged brainstem auditory evoked potentials, EEG abnormality ORPHA:206448
Cockayne Syndrome B
Sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials, Decreased n... OMIM:133540
Immunodeficiency 98 With Autoinflammation, X-Linked
B lymphocytopenia, Autoimmune hemolytic anemia, Lymphadenopathy, Hemophagocytosis, Bone marrow hy... OMIM:301078
Neutral Lipid Storage Myopathy
Abnormal circulating creatine kinase concentration, Chronic pancreatitis, Sensorineural hearing i... ORPHA:98908
Hereditary Elliptocytosis
Stomatocytosis, Splenomegaly, Congenital hemolytic anemia, Hemolytic anemia, Elliptocytosis, Jaun... ORPHA:288
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperlipidemia ORPHA:329249
Meige Disease
Absence of lymph node germinal center, Lymph node hypoplasia ORPHA:90186
19P13.12 Microdeletion Syndrome
Conductive hearing impairment, Sensorineural hearing impairment, Precocious puberty, Hepatic stea... ORPHA:254346
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Hyperlipidemia, Mildly elevated creatine kinase OMIM:604484
Classical-Like Ehlers-Danlos Syndrome Type 2
Hypertriglyceridemia, Macrotia, Cryptorchidism ORPHA:536532
Adult-Onset Autosomal Dominant Leukodystrophy
Sensorineural hearing impairment, Abnormality of somatosensory evoked potentials, Abnormal audito... ORPHA:99027
Infantile Krabbe Disease
Prolonged brainstem auditory evoked potentials, Decreased nerve conduction velocity, Hearing impa... ORPHA:206436
Felty Syndrome
Neutropenia, Splenomegaly OMIM:134750
Charcot-Marie-Tooth Disease Type 1F
Absent brainstem auditory responses, Decreased nerve conduction velocity, Sensorineural hearing i... ORPHA:101085
Trisomy 10P
Absent gallbladder, Macrotia, Low voltage EEG, EEG with burst suppression, EEG with focal spikes,... ORPHA:171929
Chronic Myeloid Leukemia
Abnormal granulocyte morphology, Abnormal basophil morphology, Thrombocytosis, Leukocytosis, Myel... ORPHA:521
Leukodystrophy, Hypomyelinating, 13
Prolonged brainstem auditory evoked potentials, Optic atrophy OMIM:616881
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hyperuricemia, Hyperlipidemia ORPHA:364
Caroli Disease
Hepatic fibrosis, Biliary cirrhosis, Cirrhosis, Periportal fibrosis, Liver abscess, Jaundice, Cho... ORPHA:53035
Overhydrated Hereditary Stomatocytosis
Intermittent jaundice, Stomatocytosis, Hemolytic anemia, Abnormal mean corpuscular volume, Decrea... ORPHA:3203
Mend Syndrome
Abnormal auditory evoked potentials, Elevated 8(9)-cholestenol, Elevated 8-dehydrocholesterol, Cr... ORPHA:401973
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Thrombocytopenia, Anisopoikilocytosis, Splenomegaly OMIM:617441
Glycogen Storage Disease Ib
Hyperuricemia, Enlarged kidney, Pancreatitis, Hepatocellular carcinoma, Pancreatic fibrosis, Hepa... OMIM:232220
Sickle Cell Disease
Cholelithiasis, Splenomegaly, Hemolytic anemia, Target cells, Jaundice, Splenic infarction, Leuko... OMIM:603903
Cerebrotendinous Xanthomatosis
Abnormality of somatosensory evoked potentials, Optic atrophy, Abnormal auditory evoked potential... ORPHA:909
Cryohydrocytosis
Stomatocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis OMIM:185020
Alagille Syndrome 1
Cirrhosis, Macrotia, Hepatocellular carcinoma, Reduced number of intrahepatic bile ducts, Cholest... OMIM:118450
Renal-Hepatic-Pancreatic Dysplasia 1
Pancreatic cysts, Asplenia, Biliary cirrhosis, Hepatic fibrosis, Cirrhosis, Enlarged kidney, Poly... OMIM:208540
Lmna-Related Cardiocutaneous Progeria Syndrome
Hypertriglyceridemia, Abnormal intrahepatic bile duct morphology, Hypercholesterolemia ORPHA:363618
Elliptocytosis 1
Splenomegaly, Elliptocytosis, Jaundice, Hemolytic anemia OMIM:611804
Wiedemann-Rautenstrauch Syndrome
Small earlobe, Hypoplasia of the thymus, Long penis, Hypospadias, Cryptorchidism, Low-set ears, H... OMIM:264090
Primary Triglyceride Deposit Cardiomyovasculopathy
Sensorineural hearing impairment, Pancreatitis, Elevated circulating creatine kinase concentratio... ORPHA:565612
Mandibuloacral Dysplasia Progeroid Syndrome
Left ventricular hypertrophy, Elevated hemoglobin A1c, Hepatomegaly, Hypertriglyceridemia, Macrov... OMIM:619127
Woodhouse-Sakati Syndrome
Sensorineural hearing impairment, Elevated circulating thyroid-stimulating hormone concentration,... OMIM:241080
Aromatase Deficiency
Enlarged polycystic ovaries, Ambiguous genitalia, female, Hepatic steatosis, Female pseudohermaph... ORPHA:91
Nephrotic Syndrome, Type 1
Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia OMIM:256300
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Elevated circulating acylcarnitine concentration, Decreased plasma free carnitine, Elevated circu... ORPHA:228308
Lipodystrophy, Familial Partial, Type 7
Recurrent pancreatitis, Tinnitus, Hypercholesterolemia, Orthostatic hypotension, Low-set ears, Hy... OMIM:606721
Atypical Werner Syndrome
Hypogonadism, Abnormal testis morphology, Hepatic steatosis, Hypertriglyceridemia, Ovarian neoplasm ORPHA:79474
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia
Hyperaldosteronism, Increased circulating cortisol level, Macronodular adrenal hyperplasia, Pitui... ORPHA:189427
Wiedemann-Rautenstrauch Syndrome
Increased circulating prolactin concentration, Decreased response to growth hormone stimulation t... ORPHA:3455
Carnitine Palmitoyltransferase Ii Deficiency
Elevated circulating acylcarnitine concentration, Decreased plasma free carnitine, Elevated circu... ORPHA:157
Primary Pigmented Nodular Adrenocortical Disease
Increased circulating cortisol level, Pituitary adenoma, Adrenal hyperplasia, Hepatic steatosis, ... ORPHA:189439
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Microangiopathic hemolytic anemia, Reticulocytosis, Increased blood urea nitrogen, Schistocytosis... OMIM:235400
Congenital Analbuminemia
Increased alpha-globulin, Hypoproteinemia, Hyperlipidemia, Hypercholesterolemia, Hypoalbuminemia ORPHA:86816
Glycogen Storage Disease Ia
Hyperuricemia, Enlarged kidney, Hepatocellular carcinoma, Hepatomegaly, Xanthelasma, Hyperlipidem... OMIM:232200
Alström Syndrome
Hepatosplenomegaly, Hepatic steatosis, Oligospermia, Hepatomegaly, Hyperlipidemia, Severe sensori... ORPHA:64
Woodhouse-Sakati Syndrome
Abnormal spermatogenesis, Decreased response to growth hormone stimulation test, Hypogonadism, De... ORPHA:3464
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Ascites, Hydrocele testis, Hyperlipidemia, Hypoalbuminemia ORPHA:567546
Mandibuloacral Dysplasia With Type A Lipodystrophy
Breast aplasia, Hearing impairment, Hyperlipidemia ORPHA:90153
Glycogen Storage Disease Ic
Chronic pancreatitis, Hyperuricemia, Hepatocellular carcinoma, Hepatoblastoma, Cyclic neutropenia... OMIM:232240
Homozygous Familial Hypercholesterolemia
Hypercholesterolemia, Hepatic steatosis, Increased LDL cholesterol concentration, Hyperlipidemia,... ORPHA:391665
Epiphyseal Dysplasia, Multiple, 3
Mildly elevated creatine kinase, Elevated circulating creatine kinase concentration OMIM:600969
Autosomal Recessive Stickler Syndrome
Sensorineural hearing impairment ORPHA:250984
Stickler Syndrome, Type Vi
Sensorineural hearing impairment OMIM:620022
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly
ORPHA:166002

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.

Phenotype Allele Zygosity Sex Life Stage
Skeletal muscle - MPATH pathological process term dystrophy Col9a3em1(IMPC)Tcp HOM Early adult
Bone - MPATH pathological process term developmental dysplasia Col9a3em1(IMPC)Tcp HOM Early adult
Bone - MPATH pathological process term dysplasia Col9a3em1(IMPC)Tcp HOM Early adult
Tibia - MPATH pathological process term dysplasia Col9a3em1(IMPC)Tcp HOM Early adult
Tibia - MPATH pathological process term developmental dysplasia Col9a3em1(IMPC)Tcp HOM Early adult

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 Col9a3.

No publications found that use IMPC mice or data for Col9a3.

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MGI Allele Allele Type Produced
Col9a3tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Col9a3tm1(KOMP)Wtsi Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells
Col9a3em1(IMPC)Tcp Exon Deletion Mice
Col9a3tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

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