Gene Summary

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

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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
increased circulating triglyceride level Col9a3em1(IMPC)Tcp HOM Early adult 6.48×10-05
enlarged spleen Col9a3em1(IMPC)Tcp HOM Early adult 0.00
decreased body length Col9a3em1(IMPC)Tcp HOM Early adult 8.68×10-05
abnormal auditory brainstem response Col9a3em1(IMPC)Tcp HOM   Early adult 3.56×10-09
enlarged lymph nodes Col9a3em1(IMPC)Tcp HOM Early adult 0.00
abnormal seminal vesicle morphology Col9a3em1(IMPC)Tcp HOM Early adult 0.00

Download data as:  TSV  XLS

Select physiological systems to view:
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Viewing: all phenotypes

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 Ophthalmoscopy

98 Images

Histopathology

Images

16 Images

Gross Pathology and Tissue Collection

Images

8 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

Eye Morphology

Images Slit Lamp

9 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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
Stickler Syndrome, Type Vi
Sensorineural hearing impairment OMIM:620022
Autosomal Recessive Stickler Syndrome
Sensorineural hearing impairment ORPHA:250984
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, Hepatomegaly, Splenomegaly OMIM:619175
Glycogen Storage Disease Vi
Hypertriglyceridemia, Hepatomegaly, Increased hepatic glycogen content, Hyperlipidemia, Hyperchol... OMIM:232700
Hypertriglyceridemia 2
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia OMIM:619324
Hypertriglyceridemia, Transient Infantile
Hypertriglyceridemia, Hepatomegaly, Splenomegaly, Hepatic fibrosis, Hepatic steatosis OMIM:614480
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hypertriglyceridemia, Jaundice, Hepatomegaly, Hemophagocytosis, Anemia, Lymphadenopathy, Thromboc... OMIM:603552
Niemann-Pick Disease, Type B
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Sea-blue histiocytosis, Hepatomega... OMIM:607616
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hypertriglyceridemia, Anemia, Lymphadenopathy, Hemophagocytosis, Thrombocytopenia, Low-frequency ... OMIM:613101
Atherosclerosis Susceptibility
Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:108725
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hypertriglyceridemia, Anemia, Hemophagocytosis, Hepatosplenomegaly, Granulocytopenia OMIM:608898
Hyperlipoproteinemia, Type Ii, And Deafness
Hypertriglyceridemia, Hearing impairment, Increased LDL cholesterol concentration, Hypercholester... OMIM:144300
Auditory Neuropathy, Autosomal Dominant 1
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:609129
Deafness, Autosomal Recessive 9
Sensorineural hearing impairment, Absent brainstem auditory responses OMIM:601071
Hypoalphalipoproteinemia, Primary, 1
Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:604091
Morbid Obesity And Spermatogenic Failure
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia, Azoospermia,... OMIM:615703
Deafness, Autosomal Recessive 104
Prelingual sensorineural hearing impairment, Absent brainstem auditory responses OMIM:616515
Fish-Eye Disease
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentr... OMIM:136120
Immunodeficiency 109 With Lymphoproliferation
Hypertriglyceridemia, Pancytopenia, Splenomegaly, Generalized lymphadenopathy, Absent circulating... OMIM:620282
Lipodystrophy, Congenital Generalized, Type 3
Hypertriglyceridemia, Hepatomegaly, Hypocalcemia, Hepatosplenomegaly, Splenomegaly, Hepatic steat... OMIM:612526
Cholesteryl Ester Storage Disease
Hypertriglyceridemia, Cirrhosis, Jaundice, Hepatomegaly, Splenomegaly, Hypercholesterolemia ORPHA:75234
Glycogen Storage Disease Ixa1
Hypertriglyceridemia, Hepatomegaly, Hyperuricemia, Splenomegaly, Hypercholesterolemia OMIM:306000
Lymphoproliferative Syndrome, X-Linked, 2
Hypertriglyceridemia, Aplastic anemia, Hepatomegaly, Hemophagocytosis, Pancytopenia, Splenomegaly... OMIM:300635
Cholesterol-Ester Transfer Protein Deficiency
Hypotriglyceridemia, Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemi... ORPHA:79506
Charcot-Marie-Tooth Disease, Type 4B1
Facial palsy, Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials OMIM:601382
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypertriglyceridemia ORPHA:366
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Splenomegaly, Hyperlipoproteinemia, Recurrent pancreatitis OMIM:118830
Hypertriglyceridemia 1
Hypertriglyceridemia, Hypopituitarism, Increased VLDL cholesterol concentration OMIM:145750
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Hypertriglyceridemia, Anemia, Acute myeloid leukemia, Elevated circulating C-reactive protein con... ORPHA:158057
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hypertriglyceridemia, Hepatomegaly OMIM:615924
Hypercholesterolemia, Familial, 4
Hypertriglyceridemia, Decreased LDL cholesterol concentration, Hypercholesterolemia OMIM:603813
Coronary Artery Disease, Autosomal Dominant 2
Hypertriglyceridemia, Increased LDL cholesterol concentration OMIM:610947
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Mantle Cell Lymphoma
Splenomegaly, Lymphadenopathy ORPHA:52416
Apolipoprotein C-Ii Deficiency
Hypertriglyceridemia, Hepatomegaly, Pancreatitis, Increased circulating chylomicron concentration... OMIM:207750
Cholesteryl Ester Storage Disease
Hypertriglyceridemia, Steatorrhea, Decreased HDL cholesterol concentration, Cirrhosis, Hepatomega... OMIM:278000
Lecithin:Cholesterol Acyltransferase Deficiency
Hypertriglyceridemia, Hemolytic anemia, Decreased HDL cholesterol concentration, Normochromic anemia OMIM:245900
Tangier Disease
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatomegaly, Decreased circulatin... OMIM:205400
Immunodeficiency 104
Recurrent otitis media, Hepatomegaly, Lymphadenopathy, T lymphocytopenia, Splenomegaly, Otitis media OMIM:608971
Optic Atrophy 8
Optic atrophy, Abnormality of pattern visual evoked potentials, Sensorineural hearing impairment,... OMIM:616648
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Jaundice, Hepatomegaly, Hemophagoc... OMIM:267700
Immunodeficiency 114, Folate-Responsive
Hypertriglyceridemia, Hepatomegaly, Megaloblastic anemia, Thrombocytopenia, Splenomegaly, Lymphop... OMIM:620603
Immunodeficiency 97 With Autoinflammation
Hypertriglyceridemia, Autoimmune hemolytic anemia, Recurrent otitis media, Mediastinal lymphadeno... OMIM:619802
Lipase Deficiency, Combined
Hypertriglyceridemia, Pancreatitis OMIM:246650
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Hypertriglyceridemia, Increased LDL cholesterol concentration, Elevated circulating creatine kina... OMIM:616516
Autosomal Recessive Spastic Paraplegia Type 44
Sensorineural hearing impairment, Abnormal auditory evoked potentials, Abnormality of visual evok... ORPHA:320401
Cholestasis, Progressive Familial Intrahepatic, 10
Jaundice, Hepatomegaly, Increased serum bile acid concentration, Portal fibrosis, Increased total... OMIM:619868
Plin1-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Hepatic fibrosis, Hepatic steatosis, Polycystic ovaries ORPHA:280356
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypertriglyceridemia, Hepatosplenomegaly, Hypopituitarism, Hypoalbuminemia, Hepatic steatosis, Mi... OMIM:619013
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Autoimmune hemolytic anemia, Recurrent otitis media, Lymphadenopathy, Splenomegaly, Lymphopenia, ... ORPHA:444463
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Hypertriglyceridemia, Hepatic steatosis ORPHA:436182
Hyperbilirubinemia, Shunt, Primary
Jaundice, Hepatomegaly, Hyperbilirubinemia, Anemia of inadequate production, Reticulocytosis, Spl... OMIM:237800
Glycogen Storage Disease Ixc
Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Increased hepatic glycogen content, Bile duct prol... OMIM:613027
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Anemia, Splenomegaly, Persistence of hemoglobin F ORPHA:46532
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Hypertriglyceridemia, Anemia, Hemophagocytosis, Pancytopenia, Splenomegaly, Increased circulating... OMIM:618398
Cholestasis, Progressive Familial Intrahepatic, 12
Jaundice, Hepatomegaly, Increased serum bile acid concentration, Hyperbilirubinemia, Cholestasis,... OMIM:620010
Macrophage Activation Syndrome
Hypertriglyceridemia, Hepatomegaly, Anemia, Hemophagocytosis, Elevated circulating C-reactive pro... ORPHA:158061
Hemoglobin H Disease
HbH hemoglobin, Hepatomegaly, Reduced alpha/beta synthesis ratio, Splenomegaly, Hemolytic anemia OMIM:613978
Galactosemia Iii
Jaundice, Hepatomegaly, Sensorineural hearing impairment, Hypergalactosemia, Splenomegaly OMIM:230350
Hyperlipoproteinemia, Type Id
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatomegaly, Pancreatitis, Increa... OMIM:615947
Cholestasis-Lymphedema Syndrome
Cirrhosis, Jaundice, Hepatomegaly, Hyperlipidemia, Splenomegaly, Conjugated hyperbilirubinemia, N... OMIM:214900
Citrullinemia, Type Ii, Adult-Onset
Hypertriglyceridemia, Elevated plasma citrulline, Pancreatitis, Portal inflammation, Hepatocellul... OMIM:603471
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Hypertriglyceridemia, Increased circulating ferritin concentration, Impaired lymphocyte transform... OMIM:619313
Citrullinemia, Type Ii, Neonatal-Onset
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Elevated plasma citrulline, Portal... OMIM:605814
Temple Syndrome
Hypertriglyceridemia, Recurrent otitis media, Decreased testicular size, Precocious puberty, Post... OMIM:616222
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Sensorineural hearing impairment, Facial palsy, Absent brainstem auditory responses, EEG abnormal... OMIM:617519
Red Cell Phospholipid Defect With Hemolysis
Hyperbilirubinemia, Intermittent jaundice, Splenomegaly, Reticulocytosis OMIM:179700
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypertriglyceridemia, Abnormal circulating lipid concentration, Decreased HDL cholesterol concent... ORPHA:247598
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hypertriglyceridemia, Jaundice, Hepatomegaly, Hemophagocytosis, Anemia, Pancytopenia, Lymphadenop... OMIM:603553
Hemochromatosis, Type 2B
Cirrhosis, Hepatomegaly, Anemia, Increased circulating iron concentration, Splenomegaly, Hypogona... OMIM:613313
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Optic atrophy, Abnormal amplitude of pattern reversal visual evoked potentials, Abnormal auditory... OMIM:125250
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Jaundice, Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration, Cholestasis, ... OMIM:619658
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Pancytopenia OMIM:183350
Mast Cell Sarcoma
Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis, Hypoplasia of the ear c... ORPHA:66661
Hyperlipoproteinemia, Type I
Lactescent serum, Jaundice, Increased circulating chylomicron concentration, Hyperlipidemia, Acut... OMIM:238600
Familial Hemophagocytic Lymphohistiocytosis
Hypertriglyceridemia, Cholestatic liver disease, Jaundice, Hepatomegaly, Hemophagocytosis, Anemia... ORPHA:540
Congenital Disorder Of Glycosylation, Type Iio
Cholestatic liver disease, Cirrhosis, Hepatomegaly, Decreased circulating ceruloplasmin concentra... OMIM:616828
Hemoglobin D Disease
Anemia, HbS hemoglobin, Reduced alpha/beta synthesis ratio, Sickled erythrocytes, Decreased mean ... ORPHA:90039
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Hypertriglyceridemia, Hepatomegaly, Male hypogonadism, Sensorineural hearing impairment, Cryptorc... OMIM:615381
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Jaundice, Splenomegaly, Nonspherocytic hemolytic anemia OMIM:206400
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Genital ulcers, Hepatomegaly, Aplasia of the thymus, B lymphocytopenia, Eosinophilia, Lymph node ... OMIM:602450
Ravine Syndrome
Abnormal auditory evoked potentials ORPHA:99852
Lipodystrophy, Familial Partial, Type 1
Hypertriglyceridemia, Hepatomegaly, Acute pancreatitis OMIM:608600
Protoporphyria, Erythropoietic, 1
Hypertriglyceridemia, Hemolytic anemia, Cholelithiasis OMIM:177000
Alpha-Heavy Chain Disease
Hepatomegaly, Anemia, Lymphadenopathy, Hypocalcemia, Ascites, Splenomegaly ORPHA:100025
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Lymphadenopathy, Recurrent tonsillitis, Splenomegaly, Microcytic anemia OMIM:618852
Obesity Due To Congenital Leptin Deficiency
Hypertriglyceridemia, Hypoplasia of the ovary, Pituitary hypothyroidism, Hypergonadotropic hypogo... ORPHA:66628
Splenoportal Vascular Anomalies
Cirrhosis, Anomalous splenoportal venous system, Ascites, Hyperammonemia, Splenomegaly, Hepatic f... OMIM:271500
Pparg-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Pancreatitis, Hyperuricemia, Splenomegaly, Polycys... ORPHA:79083
Smith-Magenis Syndrome
Hypertriglyceridemia, Abnormal middle ear morphology, Abnormal nerve conduction velocity, Hearing... OMIM:182290
Persistent Polyclonal B-Cell Lymphocytosis
Lymphocytosis, Hepatomegaly, Splenomegaly OMIM:606445
Obesity Due To Melanocortin 4 Receptor Deficiency
Hypertriglyceridemia ORPHA:71529
Obesity Due To Leptin Receptor Gene Deficiency
Hypertriglyceridemia, Hypoplasia of the ovary, Pituitary hypothyroidism, Hypergonadotropic hypogo... ORPHA:179494
Reni Syndrome
Hypertriglyceridemia, Sensorineural hearing impairment, Hypogonadism, Lymphopenia, Hypoalbuminemi... OMIM:617575
Congenital Generalized Lipodystrophy
Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Hypercholesterolemia, Clitoral hypertrophy, Precoc... ORPHA:528
Familial Partial Lipodystrophy, Dunnigan Type
Hypertriglyceridemia, Hepatomegaly, Pancreatitis, Splenomegaly, Polycystic ovaries, Hepatic steat... ORPHA:2348
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Chronic hemolytic anemia, Anemia, Reduced red cell pyruvate kinase level, Unconjugated hyperbilir... ORPHA:766
Hepatic Lipase Deficiency
Hypertriglyceridemia, Increased HDL cholesterol concentration, Hypercholesterolemia OMIM:614025
Lipodystrophy, Familial Partial, Type 3
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Cirrhosis, Hyperuricemia, Polycyst... OMIM:604367
Erythroleukemia, Familial, Susceptibility To
Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopenia, Splenomegaly, Erythroid hyperplas... OMIM:133180
Lipodystrophy, Familial Partial, Type 4
Hypertriglyceridemia, Hepatic steatosis OMIM:613877
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Persistence of hemoglobin F, E... OMIM:603902
Glut1 Deficiency Syndrome 2
Reduced haptoglobin level, Reticulocytosis, Splenomegaly, EEG abnormality, Hemolytic anemia OMIM:612126
Immunodeficiency 69
Anemia, Hemophagocytosis, Thrombocytosis, Pancytopenia, Leukocytosis, Hepatosplenomegaly, Splenom... OMIM:618963
Akt2-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Polycystic ovaries, Hepatomegaly, Hepatic steatosis ORPHA:79085
Autoimmune Lymphoproliferative Syndrome, Type Iii
Autoimmune hemolytic anemia, Recurrent otitis media, Mediastinal lymphadenopathy, Hepatomegaly, E... OMIM:615559
Severe Neurodegenerative Syndrome With Lipodystrophy
Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Hepatic steatosis ORPHA:363400
Immunodeficiency 16
Coombs-positive hemolytic anemia, Splenomegaly, Pancytopenia OMIM:615593
Hypobetalipoproteinemia, Familial, 1
Hypertriglyceridemia, Steatorrhea, Decreased HDL cholesterol concentration, Decreased LDL cholest... OMIM:615558
Cholestasis-Lymphedema Syndrome
Cirrhosis, Jaundice, Hepatomegaly, Abnormality of the lymphatic system, Hyperlipidemia, Portal hy... ORPHA:1414
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:231393
Burkitt Lymphoma
Abnormal lymph node morphology, Hyperuricemia, Abnormality of the ovary, Decreased proportion of ... ORPHA:543
Bile Acid Synthesis Defect, Congenital, 5
Increased total iron binding capacity, Jaundice, Increased serum bile acid concentration, Hepatom... OMIM:616278
Citrullinemia Type Ii
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Elevated plasma citrulline, Hepati... ORPHA:247585
Griscelli Syndrome Type 2
Jaundice, Hepatomegaly, Lymphadenopathy, Hemophagocytosis, Pancytopenia, Hyperlipidemia, Splenome... ORPHA:79477
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Cirrhosis, Jaundice, Anemia, Hepatomegaly, Hypochromia, Elevated hepatic iron concentration, Anis... OMIM:616860
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypertriglyceridemia, Clitoral hypertrophy, External genital hypoplasia, Hypospadias, Ovotestis, ... OMIM:610644
Cidec-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Hepatomegaly, Pancreatitis, Polycystic ovaries, Hepatic steatosis ORPHA:435651
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Fetal ascites, Hepatomegaly, Splenomegaly OMIM:619462
Lipodystrophy, Familial Partial, Type 5
Hypertriglyceridemia, Increased C-peptide level, Hepatomegaly, Hepatic steatosis OMIM:615238
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Hepatocellular adenoma, Cirrhosis, Portal fibrosis, Hepatomegaly, Anemia, C... ORPHA:264580
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hypertriglyceridemia, Macrovesicular hepatic steatosis, Acute hepatic steatosis, Increased LDL ch... ORPHA:209902
Lipe-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Abnormal labia majora morphology, Hepatomegaly, Elevated circulating creati... ORPHA:435660
Hemochromatosis, Type 2A
Cirrhosis, Hepatomegaly, Azoospermia, Increased circulating iron concentration, Splenomegaly, Inc... OMIM:602390
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Hepatocellular adenoma, Cirrhosis, Hepatomegaly, Anemia, Hepatocellular car... ORPHA:79240
Proteasome-Associated Autoinflammatory Syndrome 3
Hypertriglyceridemia, Hepatomegaly, Anemia, Lymphadenopathy, Thrombocytopenia, Splenomegaly, Lymp... OMIM:617591
Tangier Disease
Hypertriglyceridemia, Anemia, Facial diplegia, Chronic noninfectious lymphadenopathy, Orange disc... ORPHA:31150
Body Mass Index Quantitative Trait Locus 19
Hypertriglyceridemia, Hyperlipidemia OMIM:617885
Tyrosinemia Type 1
Splenomegaly, Hepatomegaly, Hepatocellular carcinoma ORPHA:882
Immunodeficiency 27A
Anemia, Lymphadenopathy, Leukocytosis, Hepatosplenomegaly, Splenomegaly, Enlarged mesenteric lymp... OMIM:209950
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency
Hypertriglyceridemia, Increased HDL cholesterol concentration ORPHA:140905
Ras-Associated Autoimmune Leukoproliferative Disorder
Hepatomegaly, Pancytopenia, Lymphocytosis, Splenomegaly, Hemolytic anemia, Autoimmune thrombocyto... OMIM:614470
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Anemia, Azoospermia, Hypochromia, Poikilocytosis, Elevated hepatic iron concentrati... OMIM:615234
H Syndrome
Hypertriglyceridemia, Enlarged kidney, Lymphadenopathy, Azoospermia, Hearing impairment, Decrease... ORPHA:168569
Familial Cold Autoinflammatory Syndrome 2
Lymphadenopathy, Elevated circulating C-reactive protein concentration, Sensorineural hearing imp... OMIM:611762
Charcot-Marie-Tooth Disease, Type 4D
Decreased nerve conduction velocity, Sensorineural hearing impairment, Abnormal auditory evoked p... OMIM:601455
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Enlarged kidney, Hepatomegaly, Anemia, Thrombocytopenia, Splenomegaly, Leukopenia, Extramedullary... OMIM:615285
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Lymphadenopathy, Decreased proportion of class-switched memory B cells, Increased proportion of t... OMIM:615513
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Hypertriglyceridemia, Cholestatic liver disease, Cirrhosis, Hepatomegaly, Anemia, Lymphadenopathy... OMIM:619418
Mu-Heavy Chain Disease
Hepatomegaly, Anemia, Lymphadenopathy, Splenomegaly, Abnormal B cell count ORPHA:100024
Abcd Syndrome
Aganglionic megacolon, Total intestinal aganglionosis, Abnormal auditory evoked potentials, Heari... OMIM:600501
Immunodeficiency 76
Lymphadenopathy, B lymphocytopenia, T lymphocytopenia, Splenomegaly, Lymphopenia OMIM:619164
Fish-Eye Disease
Splenomegaly, Decreased HDL cholesterol concentration, Hepatomegaly, Lymphadenopathy ORPHA:79292
Follicular Lymphoma
Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Abnormal peritoneum morphology ORPHA:545
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231242
Neutral Lipid Storage Disease With Myopathy
Hypertriglyceridemia, Hepatomegaly, Chronic pancreatitis, Sensorineural hearing impairment, Eleva... OMIM:610717
Charcot-Marie-Tooth Disease, Type 4C
Delayed brainstem auditory evoked response conduction time, Abnormal cranial nerve morphology, Fa... OMIM:601596
Hurler-Scheie Syndrome
Hepatomegaly, Abnormal nerve conduction velocity, Sensorineural hearing impairment, Abnormality o... ORPHA:93476
Lcat Deficiency
Hypertriglyceridemia, Hemolytic anemia, Decreased HDL cholesterol concentration, Decreased circul... ORPHA:650
Ataxia With Vitamin E Deficiency
Hypertriglyceridemia, Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia,... OMIM:277460
Immunodeficiency 64 With Lymphoproliferation
Autoimmune hemolytic anemia, Cervical lymphadenopathy, Mediastinal lymphadenopathy, Lymphadenopat... OMIM:618534
Abdominal Obesity-Metabolic Syndrome 4
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentr... OMIM:618620
Immunodeficiency 42
Splenomegaly, Hepatomegaly, Hypoplasia of the thymus OMIM:616622
Smith-Magenis Syndrome
Hypertriglyceridemia, Chronic otitis media, Precocious puberty, Conductive hearing impairment, EE... ORPHA:819
Familial Chylomicronemia Syndrome
Hypertriglyceridemia, Jaundice, Increased circulating chylomicron concentration, Hyperlipidemia, ... ORPHA:444490
Glycosylphosphatidylinositol Biosynthesis Defect 17
Hypertriglyceridemia, Chronic otitis media OMIM:618010
Autosomal Dominant Optic Atrophy Plus Syndrome
Optic atrophy, Temporal optic disc pallor, Sensorineural hearing impairment, Absent brainstem aud... ORPHA:1215
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypertriglyceridemia, Abnormal circulating lipid concentration, Peritonitis, Hypoalbuminemia, Hyp... ORPHA:567548
Hemophagocytic Syndrome Associated With An Infection
Hypertriglyceridemia, Hepatomegaly, Anemia, Hemophagocytosis, Abnormal natural killer cell count,... ORPHA:158048
Hyperlipidemia, Familial Combined, 3
Xanthelasma, Increased LDL cholesterol concentration, Hyperlipidemia, Increased VLDL cholesterol ... OMIM:144250
Mohr-Tranebjaerg Syndrome
Optic atrophy, Postlingual sensorineural hearing impairment, Prelingual sensorineural hearing imp... ORPHA:52368
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Hypouricemia, Neutropenia in presence of anti-neutropil antibodies, ... OMIM:613179
Anemia, Congenital Dyserythropoietic, Type Ii
Jaundice, Cholelithiasis, Anemia of inadequate production, Reticulocytosis, Splenomegaly OMIM:224100
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Jaundice, Normochromic anemia, Cholelithiasis, Hyperbilirubinemia, Nonspherocy... OMIM:235700
Glycosylphosphatidylinositol Biosynthesis Defect 1
Portal vein thrombosis, Hepatomegaly, Splenomegaly, Portal hypertension OMIM:610293
Mogs-Cdg
Optic atrophy, Hepatomegaly, External genital hypoplasia, Sensorineural hearing impairment, Absen... ORPHA:79330
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Abnormality of visual evoked potentials, Abnormal auditory evoked potentials, Optic disc pallor OMIM:617523
Chronic Bilirubin Encephalopathy
Sensorineural hearing impairment, Abnormal auditory evoked potentials, Hypernatremia, Prolonged n... ORPHA:529808
Acute Bilirubin Encephalopathy
Sensorineural hearing impairment, Abnormal auditory evoked potentials, Hypernatremia, Prolonged n... ORPHA:529799
Chédiak-Higashi Syndrome
Hypertriglyceridemia, Decreased nerve conduction velocity, Jaundice, Hemophagocytosis, Increased ... ORPHA:167
Dysbetalipoproteinemia
Hypertriglyceridemia, Xanthelasma, Decreased HDL cholesterol concentration, Hepatomegaly, Increas... ORPHA:412
Glycogen Storage Disease Ixb
Hepatomegaly, Splenomegaly, Increased hepatic glycogen content, Hyperuricemia OMIM:261750
Harderoporphyria
Hepatomegaly, Reticulocytosis, Prolonged neonatal jaundice, Splenomegaly, Neonatal hyperbilirubin... OMIM:618892
Pyruvate Kinase Deficiency Of Red Cells
Chronic hemolytic anemia, Hepatomegaly, Jaundice, Reduced haptoglobin level, Cholelithiasis, Redu... OMIM:266200
Cholestasis, Progressive Familial Intrahepatic, 3
Cirrhosis, Jaundice, Intrahepatic cholestasis, Increased serum bile acid concentration, Hepatomeg... OMIM:602347
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Hypochromic microcytic anemia, HbS hemoglobin, Splenic infarction, Persistence of hemoglobin F, R... ORPHA:251380
Beta-Thalassemia
Abnormality of iron homeostasis, Hepatomegaly, Anemia, Cholelithiasis, Thrombocytopenia, Splenome... ORPHA:848
Anemia, Congenital Dyserythropoietic, Type Ib
Jaundice, Anemia, Hepatomegaly, Anemia of inadequate production, Reticulocytosis, Poikilocytosis,... OMIM:615631
Lysinuric Protein Intolerance
Hypertriglyceridemia, Steatorrhea, Decreased HDL cholesterol concentration, Hyperammonemia, Leuko... ORPHA:470
Lymphoproliferative Syndrome, X-Linked, 1
Aplastic anemia, Hepatomegaly, Hemophagocytosis, Elevated circulating C-reactive protein concentr... OMIM:308240
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, Recurrent otitis media, Hepatomegaly, Lymphadenopathy, Splenomegaly,... OMIM:618495
Portal Hypertension, Noncirrhotic, 1
Hepatomegaly, Splenomegaly, Portal hypertension OMIM:617068
Autoimmune Lymphoproliferative Syndrome
Autoimmune hemolytic anemia, Hepatomegaly, Iron deficiency anemia, Neutropenia in presence of ant... OMIM:601859
Diarrhea 7, Protein-Losing Enteropathy Type
Hypoalbuminemia, Hypercholesterolemia, Hyperlipidemia OMIM:615863
Dehydrated Hereditary Stomatocytosis 2
Anisopoikilocytosis, Jaundice, Hepatomegaly, Increased mean corpuscular hemoglobin concentration,... OMIM:616689
Glycogen Storage Disease Iii
Hepatic fibrosis, Hepatomegaly, Hyperlipidemia, Elevated circulating creatine kinase concentration OMIM:232400
Neutral Lipid Storage Disease With Ichthyosis
Hypertriglyceridemia, Hepatomegaly, Small earlobe, Sensorineural hearing impairment, Abnormal gra... ORPHA:98907
Hemochromatosis, Type 1
Cirrhosis, Hepatomegaly, Azoospermia, Hepatocellular carcinoma, Ascites, Testicular atrophy, Incr... OMIM:235200
Diarrhea 10, Protein-Losing Enteropathy Type
Hypertriglyceridemia, Hypocalcemia, Low-set ears, Ascites, Hyponatremia, Hypomagnesemia, Hypoalbu... OMIM:618183
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatomegaly, Pancreatitis, Spleno... ORPHA:280365
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Cirrhosis, Hepatomegaly, Portal fibrosis, Increased hepatic glycogen content, Hepatocellular carc... ORPHA:369
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Normochromic anemia, Pancytopenia, Anemi... ORPHA:75564
Lipodystrophy, Congenital Generalized, Type 4
Hypertriglyceridemia, Hepatomegaly, Elevated circulating creatine kinase concentration, Splenomeg... OMIM:613327
Spherocytosis, Type 1
Jaundice, Cholelithiasis, Hyperbilirubinemia, Spherocytosis, Reticulocytosis, Splenomegaly, Hemol... OMIM:182900
Acquired Generalized Lipodystrophy
Hypertriglyceridemia, Abnormal circulating lipid concentration, Cirrhosis, Hepatomegaly, Acute pa... ORPHA:79086
Anemia, Congenital Dyserythropoietic, Type Iv
Anemia of inadequate production, Reticulocytosis, Unconjugated hyperbilirubinemia, Circulating nu... OMIM:613673
Osteopetrosis, Autosomal Recessive 8
Optic atrophy, Hepatomegaly, Anemia, Facial palsy, Thrombocytopenia, Splenomegaly OMIM:615085
Nephrotic Syndrome, Type 2
Hypoalbuminemia, Hyperlipidemia OMIM:600995
Deafness-Lymphedema-Leukemia Syndrome
Chronic otitis media, Acute leukemia, Hepatomegaly, Lymphadenopathy, Abnormal neutrophil count, S... ORPHA:3226
Immunodeficiency 7
Autoimmune hemolytic anemia, Recurrent otitis media, Hepatomegaly, Lymphadenopathy, Splenomegaly,... OMIM:615387
Ornithine Transcarbamylase Deficiency
Hyperammonemia, Splenomegaly ORPHA:664
Leukocyte Adhesion Deficiency, Type Iii
Hepatomegaly, Abnormal lymph node morphology, Anemia, Leukocytosis, Hepatosplenomegaly, Splenomeg... OMIM:612840
Hepatoportal Sclerosis
Abnormal liver parenchyma morphology, Jaundice, Anemia, Periportal fibrosis, Hyperbilirubinemia, ... ORPHA:64743
Lymphoproliferative Syndrome 1
Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Hemophagocytosis, Elevated circulating C-react... OMIM:613011
Bile Acid Synthesis Defect, Congenital, 1
Steatorrhea, Intrahepatic cholestasis, Cirrhosis, Jaundice, Hepatomegaly, Giant cell hepatitis, S... OMIM:607765
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Jaundice, Hepatomegaly, Decreased proportion of CD3-positive T cells, Decreased proportion of nai... ORPHA:276
Leukodystrophy, Hypomyelinating, 5
Decreased motor nerve conduction velocity, Delayed brainstem auditory evoked response conduction ... OMIM:610532
Lysosomal Acid Lipase Deficiency
Hypertriglyceridemia, Xanthelasma, Steatorrhea, Hyperkalemia, Jaundice, Anemia, Vacuolated lympho... ORPHA:275761
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, Splenomegal... OMIM:619375
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Sensorineural hearing impairment, Abnormal auditory evoked potentials, Optic disc pallor OMIM:619260
Focal Segmental Glomerulosclerosis 1
Hypoalbuminemia, Ascites, Hyperlipidemia, Anemia OMIM:603278
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome
Hypochromic microcytic anemia, Absent brainstem auditory responses, Thrombocytopenia, Vestibular ... ORPHA:3240
Spherocytosis, Type 4
Jaundice, Hyperbilirubinemia, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia OMIM:612653
Prader-Willi Syndrome
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Decreased response to growth hormo... OMIM:176270
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Hypertriglyceridemia, Increased LDL cholesterol concentration, Elevated circulating creatine kina... ORPHA:98855
Hemoglobin E Disease
Hypochromic microcytic anemia, Increased red blood cell count, Drug-sensitive hemolytic anemia, H... ORPHA:2133
Fetal Cytomegalovirus Syndrome
Optic atrophy, Jaundice, Anemia, Hepatomegaly, Sensorineural hearing impairment, Thrombocytopenia... ORPHA:294
Dehydrated Hereditary Stomatocytosis
Macrocytic anemia, Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Increased... ORPHA:3202
Lipodystrophy, Congenital Generalized, Type 1
Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Clitoral hypertrophy, Acute pancreatitis, Macrotia... OMIM:608594
Late-Infantile/Juvenile Krabbe Disease
Abnormality of visual evoked potentials, EEG with persistent abnormal rhythmic activity, Delayed ... ORPHA:206443
Fanconi-Bickel Syndrome
Hypertriglyceridemia, Hepatomegaly, Increased hepatic glycogen content, Hepatocellular carcinoma,... ORPHA:2088
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:109120
Osteopetrosis, Autosomal Recessive 4
Optic atrophy, Hepatomegaly, Anemia, Facial palsy, Reticulocytosis, Thrombocytopenia, Splenomegal... OMIM:611490
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Aganglionic megacolon, Decreased nerve conduction velocity, Short-segment aganglionic megacolon, ... OMIM:609136
Cockayne Syndrome Type 1
Optic atrophy, Hepatomegaly, Anemia, Absent brainstem auditory responses, Cryptorchidism, Increas... ORPHA:90321
Lipodystrophy, Familial Partial, Type 2
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatomegaly, Hypercholesterolemia... OMIM:151660
Bile Acid Synthesis Defect, Congenital, 2
Steatorrhea, Intrahepatic cholestasis, Jaundice, Hepatomegaly, Hyperbilirubinemia, Splenomegaly OMIM:235555
Sclerosing Cholangitis, Neonatal
Cirrhosis, Jaundice, Portal fibrosis, Hepatomegaly, Sclerosing cholangitis, Acholic stools, Chole... OMIM:617394
X-Linked Emery-Dreifuss Muscular Dystrophy
Hypertriglyceridemia, Increased LDL cholesterol concentration, Elevated circulating creatine kina... ORPHA:98863
Spherocytosis, Type 2
Jaundice, Hyperbilirubinemia, Spherocytosis, Reticulocytosis, Splenomegaly, Acanthocytosis, Hemol... OMIM:616649
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Hypertriglyceridemia, Increased LDL cholesterol concentration, Elevated circulating creatine kina... ORPHA:98853
Emery-Dreifuss Muscular Dystrophy
Hypertriglyceridemia, Increased LDL cholesterol concentration, Elevated circulating creatine kina... ORPHA:261
Autoimmune Lymphoproliferative Syndrome, Type Iia
Autoimmune hemolytic anemia, Hepatomegaly, Iron deficiency anemia, Lymphadenopathy, Neutropenia i... OMIM:603909
Lipodystrophy, Congenital Generalized, Type 2
Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Clitoral hypertrophy, Acute pancreatitis, Macrotia... OMIM:269700
Chronic Visceral Acid Sphingomyelinase Deficiency
Hypertriglyceridemia, Abnormal circulating lipid concentration, Decreased HDL cholesterol concent... ORPHA:77293
Nephronophthisis 19
Hepatomegaly, Cholestasis, Bile duct proliferation, Splenomegaly, Hepatic fibrosis, Malformation ... OMIM:616217
Cholestasis, Progressive Familial Intrahepatic, 2
Cirrhosis, Intrahepatic cholestasis, Hepatomegaly, Hepatocellular carcinoma, Intermittent jaundic... OMIM:601847
Xp21 Deletion Syndrome
Hypertriglyceridemia, Recurrent otitis media, Elevated circulating creatine kinase concentration,... ORPHA:261476
Cholestasis, Progressive Familial Intrahepatic, 9
Jaundice, Intrahepatic cholestasis, Hepatomegaly, Fibro-obliterative bile-duct lesion, Portal hyp... OMIM:619849
Erythrocytosis, Familial, 8
Reduced erythrocyte bisphosphoglycerate mutase activity, Polycythemia, Increased circulating hemo... OMIM:222800
Cholestasis, Progressive Familial Intrahepatic, 1
Cirrhosis, Jaundice, Hepatomegaly, Cholelithiasis, Intrahepatic cholestasis with episodic jaundic... OMIM:211600
Arthrogryposis, Distal, Type 2A
Hearing impairment, Cryptorchidism, Abnormal auditory evoked potentials OMIM:193700
Alstrom Syndrome
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatomegaly, Decreased response t... OMIM:203800
Mandibuloacral Dysplasia
Hypertriglyceridemia, Increased circulating free fatty acid level, Hypercholesterolemia ORPHA:2457
Cryohydrocytosis
Reticulocytosis, Splenomegaly, Stomatocytosis, Hemolytic anemia, Pseudohyperkalemia OMIM:185020
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Steatorrhea, Jaundice, Hepatomegaly, Anemia of inadequate production, Exocrine pancreatic insuffi... OMIM:612714
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypertriglyceridemia, Xanthelasma, Enlarged kidney, Hepatocellular adenoma, Pancreatitis, Hepatom... ORPHA:79259
Parenteral Nutrition-Associated Cholestasis
Cirrhosis, Jaundice, Hepatomegaly, Cholelithiasis, Hyperlipidemia, Portal hypertension, Biliary h... ORPHA:567983
Bile Acid Synthesis Defect, Congenital, 3
Steatorrhea, Intrahepatic cholestasis, Jaundice, Cirrhosis, Hepatomegaly, Acholic stools, Hyperbi... OMIM:613812
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypertriglyceridemia, EEG with spike-wave complexes, Hypoparathyroidism, Low-set ears, Hearing im... ORPHA:369837
Immunodeficiency 87 And Autoimmunity
Hypertriglyceridemia, Autoimmune hemolytic anemia, Jaundice, Hepatomegaly, Decreased CD4:CD8 rati... OMIM:619573
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Jaundice, Hepatomegaly, Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Incr... OMIM:194380
Omenn Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, B lymphocytopenia, Hypoproteinemia, Hypoplasia of the thym... OMIM:603554
Beta-Thalassemia Intermedia
Cirrhosis, Abnormality of iron homeostasis, Jaundice, Hepatomegaly, Cholelithiasis, Hypoparathyro... ORPHA:231222
Lipodystrophy, Familial Partial, Type 6
Abnormal circulating lipid concentration, Hepatic steatosis, Hyperlipidemia, Elevated circulating... OMIM:615980
Thrombocytopenia With Beta-Thalassemia, X-Linked
Reticulocytosis, Reduced platelet alpha granules, Increased mean platelet volume, Thrombocytopeni... OMIM:314050
Spherocytosis, Type 5
Jaundice, Abnormal platelet count, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia... OMIM:612690
Tafro Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating C-reactive protein concentration, Asc... ORPHA:457077
Cockayne Syndrome A
Optic atrophy, Decreased nerve conduction velocity, Hepatomegaly, Sensorineural hearing impairmen... OMIM:216400
Immunodeficiency 98 With Autoinflammation, X-Linked
Autoimmune hemolytic anemia, Recurrent otitis media, Hepatomegaly, Hemophagocytosis, Lymphadenopa... OMIM:301078
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hepatomegaly, Abnormal fallopian tube morphology, Hypocalcemia, Hypoproteinemia, Low-set ears, As... ORPHA:1655
Microtriplication 11Q24.1
Hearing impairment, Attached earlobe, Hyperlipidemia, Posteriorly rotated ears ORPHA:289522
Systemic-Onset Juvenile Idiopathic Arthritis
Splenomegaly, Hepatomegaly, Lymphadenopathy, Elevated circulating C-reactive protein concentration ORPHA:85414
Werner Syndrome
Hypertriglyceridemia, Elevated hemoglobin A1c, Hypogonadism OMIM:277700
Overhydrated Hereditary Stomatocytosis
Jaundice, Hepatomegaly, Increased mean corpuscular volume, Hyperbilirubinemia, Reticulocytosis, P... OMIM:185000
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Jaundice, Fava bean-induced hemolytic anemia, Leukocytosis, Reticulocytosis, Unconjugated hyperbi... OMIM:300908
Sitosterolemia 1
Xanthelasma, Elevated circulating sitosterol concentration, Reduced haptoglobin level, Chronic he... OMIM:210250
Seckel Syndrome 10
Hypertriglyceridemia, Acute pancreatitis, Elevated circulating follicle stimulating hormone level... OMIM:617253
Neutral Lipid Storage Myopathy
Hypertriglyceridemia, Hepatomegaly, Chronic pancreatitis, Sensorineural hearing impairment, Abnor... ORPHA:98908
Agammaglobulinemia, X-Linked
Recurrent otitis media, Anemia, Prostatitis, B lymphocytopenia, Hepatocellular carcinoma, Enterov... OMIM:300755
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Jaundice, Cholelithiasis, Spontaneous hemolytic crises, Nonspherocytic hemolytic anemia, Impaired... OMIM:613470
Proteasome-Associated Autoinflammatory Syndrome 1
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Recurrent otitis media, Hepatomega... OMIM:256040
Anemia, Congenital Dyserythropoietic, Type Ia
Hepatomegaly, Hyperbilirubinemia, Macrocytic dyserythropoietic anemia, Anemia of inadequate produ... OMIM:224120
Alpha-Thalassemia
Anisopoikilocytosis, Hemoglobin Barts, Jaundice, Anemia, Cholelithiasis, Reticulocytosis, Hepatos... ORPHA:846
Cockayne Syndrome B
Optic atrophy, Decreased nerve conduction velocity, Hepatomegaly, Sensorineural hearing impairmen... OMIM:133540
Gaisböck Syndrome
Hypertriglyceridemia, Increased red blood cell count, Elevated plasma cell count, Hyperuricemia, ... ORPHA:90041
Drug-Induced Autoimmune Hemolytic Anemia
Increased total bilirubin, Splenomegaly, Autoimmune hemolytic anemia ORPHA:90037
Infantile Krabbe Disease
Optic atrophy, Delayed brainstem auditory evoked response conduction time, Decreased nerve conduc... ORPHA:206436
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hyperlipidemia, Hyperuricemia ORPHA:364
Abdominal Obesity-Metabolic Syndrome 3
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:615812
19P13.12 Microdeletion Syndrome
Hypospadias, Sensorineural hearing impairment, Abnormal pinna morphology, Low-set ears, Hyperlipi... ORPHA:254346
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Mildly elevated creatine kinase, Hyperlipidemia OMIM:604484
Felty Syndrome
Splenomegaly, Neutropenia OMIM:134750
Adult Krabbe Disease
Delayed brainstem auditory evoked response conduction time, EEG abnormality ORPHA:206448
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, B lymphocytope... ORPHA:231154
Chronic Myeloid Leukemia
Myeloproliferative disorder, Leukocytosis, Abnormal granulocyte morphology, Thrombocytopenia, Spl... ORPHA:521
Meige Disease
Absence of lymph node germinal center, Lymph node hypoplasia ORPHA:90186
Glycerol Kinase Deficiency
Hypertriglyceridemia, Hyperglycerolemia, Chronic pancreatitis, Low-set ears, Cryptorchidism OMIM:307030
Leukodystrophy, Hypomyelinating, 13
Optic atrophy, Delayed brainstem auditory evoked response conduction time OMIM:616881
Overhydrated Hereditary Stomatocytosis
Decreased mean corpuscular hemoglobin concentration, Intermittent jaundice, Reticulocytosis, Abno... ORPHA:3203
Classical-Like Ehlers-Danlos Syndrome Type 2
Hypertriglyceridemia, Macrotia, Cryptorchidism ORPHA:536532
Thrombocytopenia, Anemia, And Myelofibrosis
Anisopoikilocytosis, Thrombocytopenia, Anemia, Splenomegaly OMIM:617441
Adult-Onset Autosomal Dominant Leukodystrophy
Orthostatic hypotension, Sensorineural hearing impairment, Abnormal auditory evoked potentials, A... ORPHA:99027
Griscelli Syndrome Type 1
Hyperlipidemia ORPHA:79476
Charcot-Marie-Tooth Disease Type 1F
Sensorineural hearing impairment, Optic nerve hypoplasia, Decreased nerve conduction velocity, Ab... ORPHA:101085
Cerebrotendinous Xanthomatosis
Optic atrophy, Decreased nerve conduction velocity, Cholelithiasis, Abnormal auditory evoked pote... ORPHA:909
Caroli Disease
Cirrhosis, Jaundice, Intrahepatic cholestasis, Cholangitis, Cholelithiasis, Hepatomegaly, Liver a... ORPHA:53035
Trisomy 10P
Rectovaginal fistula, Low voltage EEG, EEG with focal spikes, Abnormal auditory evoked potentials... ORPHA:171929
Bardet-Biedl Syndrome
Hypertriglyceridemia, Hydrometrocolpos, Decreased HDL cholesterol concentration, Aganglionic mega... ORPHA:110
Glycogen Storage Disease Xii
Normocytic anemia, Jaundice, Reduced haptoglobin level, Decreased erythrocyte fructose-1,6-bispho... OMIM:611881
Mend Syndrome
Low-set ears, Abnormal auditory evoked potentials, Elevated 8(9)-cholestenol, Cryptorchidism, Ele... ORPHA:401973
Hereditary Elliptocytosis
Jaundice, Cholelithiasis, Hyperbilirubinemia, Reticulocytosis, Poikilocytosis, Prolonged neonatal... ORPHA:288
Glycogen Storage Disease Ib
Xanthelasma, Enlarged kidney, Hepatomegaly, Pancreatitis, Hyperuricemia, Hepatocellular carcinoma... OMIM:232220
Proteasome-Associated Autoinflammatory Syndrome 4
Autoimmune hemolytic anemia, Splenomegaly, Hepatomegaly, Lymphadenopathy OMIM:619183
Myelofibrosis
Hepatomegaly, Hemophagocytosis, Myeloproliferative disorder, Splenomegaly, Extramedullary hematop... OMIM:254450
Sickle Cell Disease
Jaundice, Hepatomegaly, Cholelithiasis, Splenic infarction, Leukocytosis, Target cells, Splenomeg... OMIM:603903
Primary Biliary Cholangitis
Abnormal circulating lipid concentration, Xanthelasma, Steatorrhea, Jaundice, Cirrhosis, Orthosta... ORPHA:186
Renal-Hepatic-Pancreatic Dysplasia 1
Enlarged kidney, Hyperechogenic pancreas, Cirrhosis, Hepatomegaly, Cholestasis, Biliary cirrhosis... OMIM:208540
Elliptocytosis 1
Elliptocytosis, Jaundice, Splenomegaly, Hemolytic anemia OMIM:611804
Alagille Syndrome 1
Hypertriglyceridemia, Cirrhosis, Hepatocellular carcinoma, Low-set ears, Cholestasis, Macrotia, P... OMIM:118450
Lmna-Related Cardiocutaneous Progeria Syndrome
Hypertriglyceridemia, Hypercholesterolemia, Abnormal intrahepatic bile duct morphology ORPHA:363618
Primary Triglyceride Deposit Cardiomyovasculopathy
Hepatomegaly, Pancreatitis, Sensorineural hearing impairment, Vacuolated lymphocytes, Hyperlipide... ORPHA:565612
Aromatase Deficiency
Macroorchidism, postpubertal, Hyperlipidemia, Enlarged polycystic ovaries, Hypergonadotropic hypo... ORPHA:91
Schimke Immuno-Osseous Dysplasia
Pancreatitis, Anemia, Abnormal proportion of naive CD4 T cells, Hyperlipidemia, Decreased proport... ORPHA:1830
Wiedemann-Rautenstrauch Syndrome
Hypertriglyceridemia, Hypospadias, Long penis, Small earlobe, Absent earlobe, Low-set ears, Hypop... OMIM:264090
Methanol Poisoning
Hyperlipidemia ORPHA:31825
Nephrotic Syndrome, Type 1
Hypoalbuminemia, Hypoproteinemia, Hyperlipidemia OMIM:256300
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatic steatosis, Hepatomegaly, Hyperlipidemia, Elevated circulating creatine kinase concentrati... ORPHA:228308
Mandibuloacral Dysplasia Progeroid Syndrome
Hypertriglyceridemia, Hepatomegaly, Macrovesicular hepatic steatosis, Elevated hemoglobin A1c, Le... OMIM:619127
Woodhouse-Sakati Syndrome
Hypoplasia of the uterus, Sensorineural hearing impairment, Hyperlipidemia, Hypoplasia of the fal... OMIM:241080
Carnitine Palmitoyltransferase Ii Deficiency
Hepatomegaly, Hyperlipidemia, Elevated circulating creatine kinase concentration, Decreased plasm... ORPHA:157
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Hyperlipidemia, Reticulocytosis, Increased blood urea nitrogen, Thrombocytopenia, Microangiopathi... OMIM:235400
Lipodystrophy, Familial Partial, Type 7
Hypertriglyceridemia, Orthostatic hypotension, Low-set ears, Tinnitus, Recurrent pancreatitis, Hy... OMIM:606721
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Macronodular adrenal hyperplasia, Hyperlipidemia, Primary hyperparathyroidism, Pituitary adenoma,... ORPHA:189427
Wiedemann-Rautenstrauch Syndrome
Hypertriglyceridemia, Optic atrophy, Decreased response to growth hormone stimulation test, Recur... ORPHA:3455
Atypical Werner Syndrome
Hypertriglyceridemia, Ovarian neoplasm, Abnormal testis morphology, Hypogonadism, Hepatic steatosis ORPHA:79474
Congenital Analbuminemia
Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia, Increased alpha-globulin, Hypercholesterolemia ORPHA:86816
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Hyperlipidemia ORPHA:2089
Glycogen Storage Disease Ia
Xanthelasma, Enlarged kidney, Hepatomegaly, Pancreatitis, Hyperuricemia, Hepatocellular carcinoma... OMIM:232200
Woodhouse-Sakati Syndrome
Decreased response to growth hormone stimulation test, Hypoplasia of the uterus, Abnormal spermat... ORPHA:3464
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Hypoalbuminemia, Hyperlipidemia, Ascites, Hydrocele testis ORPHA:567546
Alström Syndrome
Hypertriglyceridemia, Precocious puberty in females, Hyperlipidemia, Splenomegaly, Hepatic steato... ORPHA:64
Combined Deficiency Of Factor V And Factor Viii
Hyperlipidemia, Hyperuricemia ORPHA:35909
Mandibuloacral Dysplasia With Type A Lipodystrophy
Hearing impairment, Hyperlipidemia, Breast aplasia ORPHA:90153
Glycogen Storage Disease Ic
Xanthelasma, Hepatomegaly, Chronic pancreatitis, Hyperuricemia, Hepatocellular carcinoma, Hyperli... OMIM:232240
Aapoaiv Amyloidosis
Elevated circulating creatinine concentration, Hyperlipidemia ORPHA:439232
Mandibuloacral Dysplasia With Type B Lipodystrophy
Hyperlipidemia OMIM:608612
Mandibuloacral Dysplasia With Type A Lipodystrophy
Calcinosis, Hypercholesterolemia, Hyperlipidemia, Hepatomegaly OMIM:248370
Familial Multiple Lipomatosis
Hyperlipidemia ORPHA:199276
Fabry Disease
Abnormal circulating lipid concentration, Optic atrophy, Anemia, Sensorineural hearing impairment... ORPHA:324
Mandibuloacral Dysplasia With Type B Lipodystrophy
Calcinosis, Hyperlipidemia ORPHA:90154
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Decreased response to growth hormone stimulation test, Sensorineural hearing impairment, Hyperlip... ORPHA:293987
Homozygous Familial Hypercholesterolemia
Hypercholesterolemia, Increased LDL cholesterol concentration, Hyperlipidemia, Optic neuropathy, ... ORPHA:391665
Epiphyseal Dysplasia, Multiple, 3
Mildly elevated creatine kinase, Elevated circulating creatine kinase concentration OMIM:600969
Stickler Syndrome, Type Vi
Sensorineural hearing impairment OMIM:620022
Autosomal Recessive Stickler Syndrome
Sensorineural hearing impairment ORPHA:250984
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
Tibia - MPATH pathological process term dysplasia Col9a3em1(IMPC)Tcp HOM Early adult
Bone - MPATH pathological process term developmental dysplasia Col9a3em1(IMPC)Tcp HOM Early adult
Skeletal muscle - MPATH pathological process term dystrophy Col9a3em1(IMPC)Tcp HOM Early adult
Tibia - MPATH pathological process term developmental dysplasia Col9a3em1(IMPC)Tcp HOM Early adult
Bone - MPATH pathological process term 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.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

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

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