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
enlarged spleen Col9a3em1(IMPC)Tcp HOM Early adult 0.00
decreased prepulse inhibition Col9a3em1(IMPC)Tcp HOM Early adult 9.10×10-06
abnormal auditory brainstem response Col9a3em1(IMPC)Tcp HOM   Early adult 5.73×10-09
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 lymph nodes Col9a3em1(IMPC)Tcp HOM Early adult 0.00
decreased body length Col9a3em1(IMPC)Tcp HOM Early adult 9.24×10-05

Download data as:  TSV  XLS

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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.

Histopathology

Images

16 Images

Eye Morphology

Images Ophthalmoscopy

98 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Eye Morphology

Images Slit Lamp

9 Images

Gross Pathology and Tissue Collection

Images

8 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

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
Elevated circulating creatine kinase concentration, Mildly elevated creatine kinase 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
Splenomegaly, Hypertriglyceridemia, Hepatomegaly OMIM:619175
Fetal Cytomegalovirus Syndrome
Splenomegaly, Sensorineural hearing impairment, Anemia, Hepatomegaly ORPHA:294
Glycogen Storage Disease Vi
Hepatomegaly, Hypertriglyceridemia, Hyperlipidemia, Hypercholesterolemia, Increased hepatic glyco... OMIM:232700
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Thrombocytopenia, Jaundice, Increased circulati... OMIM:603552
Hypertriglyceridemia, Transient Infantile
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatic fibrosis, Hepatic steatosis OMIM:614480
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, Low-frequency s... OMIM:613101
Hypertriglyceridemia 2
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:619324
Niemann-Pick Disease, Type B
Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Bone-marrow foam cel... OMIM:607616
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hypertriglyceridemia, Hepatosplenomegaly, Hemophagocytosis, Granulocytopenia, Anemia OMIM:608898
Atherosclerosis Susceptibility
Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:108725
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Hearing impa... OMIM:144300
Auditory Neuropathy, Autosomal Dominant 1
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:609129
Morbid Obesity And Spermatogenic Failure
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Oligozoospermia, Increased LDL cho... OMIM:615703
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Sensorineural hearing impairment OMIM:601071
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment OMIM:616515
Fish-Eye Disease
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri... OMIM:136120
Immunodeficiency 109 With Lymphoproliferation
Pancytopenia, Generalized lymphadenopathy, Hypertriglyceridemia, Splenomegaly, Absent circulating... OMIM:620282
Lipodystrophy, Congenital Generalized, Type 3
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatosplenomegaly, Hypocalcemia, Hypercholeste... OMIM:612526
Cholesteryl Ester Storage Disease
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Jaundice, Cirrhosis, Hypercholesterolemia ORPHA:75234
Neutral Lipid Storage Disease With Myopathy
Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Sensorine... OMIM:610717
Glycogen Storage Disease Ixa1
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hyperuricemia, Hypercholesterolemia OMIM:306000
Lymphoproliferative Syndrome, X-Linked, 2
Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Aplastic anemia, Splenomegaly, Increased circul... OMIM:300635
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials OMIM:601382
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypertriglyceridemia ORPHA:366
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute myeloid leukemia, Pancytopenia, Hypertriglyceridemia, Elevated circulating C-reactive prote... ORPHA:158057
Hypertriglyceridemia 1
Hypopituitarism, Hypertriglyceridemia, Increased VLDL cholesterol concentration OMIM:145750
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hepatomegaly, Hypertriglyceridemia OMIM:615924
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Splenomegaly, Recurrent pancreatitis, Hyperlipoproteinemia OMIM:118830
Coronary Artery Disease, Autosomal Dominant 2
Increased LDL cholesterol concentration, Hypertriglyceridemia OMIM:610947
Hypercholesterolemia, Familial, 4
Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration OMIM:603813
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Tangier Disease
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... OMIM:205400
Lecithin:Cholesterol Acyltransferase Deficiency
Hemolytic anemia, Normochromic anemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:245900
Cholesteryl Ester Storage Disease
Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Bone-marrow foam cel... OMIM:278000
Glycosylphosphatidylinositol Biosynthesis Defect 17
Hypertriglyceridemia OMIM:618010
Apolipoprotein C-Ii Deficiency
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating chylomicron concentration... OMIM:207750
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hyponatremia, Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increa... OMIM:267700
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating creatine kina... OMIM:616516
Immunodeficiency 97 With Autoinflammation
Autoimmune hemolytic anemia, Hypertriglyceridemia, Decreased proportion of CD4+CD25+ regulatory T... OMIM:619802
Lipase Deficiency, Combined
Hypertriglyceridemia, Pancreatitis OMIM:246650
Plin1-Related Familial Partial Lipodystrophy
Hepatic steatosis, Hypertriglyceridemia, Hepatic fibrosis, Polycystic ovaries ORPHA:280356
Macrophage Activation Syndrome
Hepatomegaly, Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Spleno... ORPHA:158061
Glycogen Storage Disease Ixc
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Bile duct proliferation, Cirrhosis, Increased h... OMIM:613027
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Hypertriglyceridemia, Hepatic steatosis ORPHA:436182
Optic Atrophy 8
Sensorineural hearing impairment, Optic atrophy, Prolonged somatosensory evoked potentials, Abnor... OMIM:616648
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypertriglyceridemia, Microcytic anemia, Hepatosplenomegaly, Hypoalbuminemia, Hypopituitarism, He... OMIM:619013
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Splenomegaly, Anemia, Hepatomegaly ORPHA:46532
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Pancytopenia, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, H... OMIM:618398
Cholestasis, Progressive Familial Intrahepatic, 10
Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, Acholic stools, Portal fibro... OMIM:619868
Papular Xanthoma
Hyperlipidemia, Histiocytosis ORPHA:158008
Hyperlipoproteinemia, Type Id
Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Splenomegaly, Pancre... OMIM:615947
Galactosemia Iii
Hepatomegaly, Splenomegaly, Jaundice, Sensorineural hearing impairment, Hypergalactosemia OMIM:230350
Hemoglobin H Disease
Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:613978
Hyperlipoproteinemia, Type I
Splenomegaly, Jaundice, Hyperlipidemia, Hepatosplenomegaly, Lactescent serum, Increased circulati... OMIM:238600
Hyperbilirubinemia, Shunt, Primary
Hepatomegaly, Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Hyperbili... OMIM:237800
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hyponatremia, Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Splenomegaly, Thrombocytopenia, J... OMIM:603553
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Impaired lymphocyte transformation with phytohemagglutinin, Hypertriglyceridemia, Increased circu... OMIM:619313
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit... ORPHA:444463
Cholestasis, Progressive Familial Intrahepatic, 12
Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, Cholestasis, Hyperbilirubine... OMIM:620010
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Absent brainstem auditory responses, Sensorineural hearing impairment, Facial palsy, EEG abnormality OMIM:617519
Citrullinemia, Type Ii, Adult-Onset
Hypertriglyceridemia, Portal inflammation, Hyperammonemia, Ballooning hepatocyte degeneration, He... OMIM:603471
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi... ORPHA:79506
Familial Hemophagocytic Lymphohistiocytosis
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Thrombocytopenia, Jaundice, Increased circulati... ORPHA:540
Hemochromatosis, Type 2B
Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Elevated transferrin sa... OMIM:613313
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia OMIM:206400
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, Hyperlipidemia, Cirrhosis, N... OMIM:214900
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal motor evoked potentials, Sensorineural hearing impairment, Abnormal auditory evoked pote... ORPHA:320401
Temple Syndrome
Hypertriglyceridemia, Posteriorly rotated ears, Precocious puberty, Cryptorchidism, Hypercholeste... OMIM:616222
Ravine Syndrome
Abnormal auditory evoked potentials ORPHA:99852
Congenital Disorder Of Glycosylation, Type Iio
Hepatomegaly, Decreased circulating ceruloplasmin concentration, Elevated circulating creatine ki... OMIM:616828
Mast Cell Sarcoma
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Hypoplasia of the ear c... ORPHA:66661
Lipodystrophy, Familial Partial, Type 1
Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia OMIM:608600
Hemoglobin D Disease
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... ORPHA:90039
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Hearing impairment, Splenomegaly, Jaundice, Cholestasis, Hepatic fibrosis, Hypocalcemia, Hepatic ... 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
Decreased HDL cholesterol concentration, Hypoalbuminemia, Hepatic steatosis, Hyperthreoninemia, H... ORPHA:247598
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Progressive sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials OMIM:125250
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Hepatomegaly, Hypertriglyceridemia, Cryptorchidism, Sensorineural hearing impairment, Male hypogo... OMIM:615381
Citrullinemia, Type Ii, Neonatal-Onset
Hypertyrosinemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterol... OMIM:605814
Pparg-Related Familial Partial Lipodystrophy
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Polycystic ovaries, Hyperuricemia, Cirrhosis, H... ORPHA:79083
Familial Partial Lipodystrophy, Dunnigan Type
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Polycystic ovaries, Hepatic steatosis, Pancreat... ORPHA:2348
Protoporphyria, Erythropoietic, 1
Hemolytic anemia, Hypertriglyceridemia, Cholelithiasis OMIM:177000
Congenital Generalized Lipodystrophy
Hepatomegaly, Overgrowth of external genitalia, Hypertriglyceridemia, Precocious puberty in femal... ORPHA:528
Obesity Due To Melanocortin 4 Receptor Deficiency
Hypertriglyceridemia ORPHA:71529
Alpha-Heavy Chain Disease
Hepatomegaly, Splenomegaly, Lymphadenopathy, Hypocalcemia, Ascites, Anemia ORPHA:100025
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy OMIM:618852
Red Cell Phospholipid Defect With Hemolysis
Splenomegaly, Intermittent jaundice, Hyperbilirubinemia, Reticulocytosis OMIM:179700
Hypobetalipoproteinemia, Familial, 1
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Acanthocytosis, Decreased LDL chol... OMIM:615558
Obesity Due To Congenital Leptin Deficiency
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Pituitary hypothyroidism, Hypoplasia of the... ORPHA:66628
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Genital ulcers, S... OMIM:602450
Lipodystrophy, Familial Partial, Type 3
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Polycystic ovaries, Hyperuricemia,... OMIM:604367
Reni Syndrome
Hypertriglyceridemia, Cryptorchidism, Sensorineural hearing impairment, Hypogonadism, Hypoalbumin... OMIM:617575
Lipodystrophy, Familial Partial, Type 4
Hypertriglyceridemia, Hepatic steatosis OMIM:613877
Obesity Due To Leptin Receptor Gene Deficiency
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Pituitary hypothyroidism, Hypoplasia of the... ORPHA:179494
Smith-Magenis Syndrome
Hypercholesterolemia, Hypertriglyceridemia, Hearing impairment, EEG abnormality OMIM:182290
Severe Neurodegenerative Syndrome With Lipodystrophy
Hepatomegaly, Hypertriglyceridemia, Hepatic steatosis, Cirrhosis ORPHA:363400
Immunodeficiency 69
Pancytopenia, Splenomegaly, Leukocytosis, Increased circulating ferritin concentration, Hepatospl... OMIM:618963
Persistent Polyclonal B-Cell Lymphocytosis
Splenomegaly, Lymphocytosis, Hepatomegaly OMIM:606445
Glut1 Deficiency Syndrome 2
Hemolytic anemia, Reticulocytosis, Splenomegaly, EEG abnormality, Reduced haptoglobin level OMIM:612126
Hepatic Lipase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration OMIM:614025
Akt2-Related Familial Partial Lipodystrophy
Hepatomegaly, Hypertriglyceridemia, Hepatic steatosis, Polycystic ovaries ORPHA:79085
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Splenomegaly, Reduced red cell py... ORPHA:766
Splenoportal Vascular Anomalies
Anomalous splenoportal venous system, Splenomegaly, Hyperammonemia, Hepatic fibrosis, Cirrhosis, ... OMIM:271500
Erythroleukemia, Familial, Susceptibility To
Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro... OMIM:133180
Beta-Thalassemia, Dominant Inclusion Body Type
Increased HbA2 hemoglobin, Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Ery... OMIM:603902
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Abnormal ... ORPHA:264580
Citrullinemia Type Ii
Hypoproteinemia, Hepatomegaly, Decreased HDL cholesterol concentration, Acute hyperammonemia, Hyp... ORPHA:247585
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Splenomeg... ORPHA:79240
Lipodystrophy, Familial Partial, Type 5
Hepatomegaly, Hypertriglyceridemia, Hepatic steatosis, Increased C-peptide level OMIM:615238
Tangier Disease
Orange discolored tonsils, Hypertriglyceridemia, Chronic noninfectious lymphadenopathy, Thrombocy... ORPHA:31150
Lipe-Related Familial Partial Lipodystrophy
Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Polycysti... ORPHA:435660
Hemochromatosis, Type 2A
Hepatomegaly, Hypogonadotropic hypogonadism, Splenomegaly, Increased circulating ferritin concent... OMIM:602390
Cidec-Related Familial Partial Lipodystrophy
Hepatomegaly, Hypertriglyceridemia, Polycystic ovaries, Hepatic steatosis, Pancreatitis ORPHA:435651
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Hepatomegaly, Autoimmune hemoly... OMIM:615559
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia ORPHA:231393
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Abnormality of the lymphatic system, B... ORPHA:1414
Immunodeficiency 16
Splenomegaly, Pancytopenia, Coombs-positive hemolytic anemia OMIM:615593
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Elevated transferrin sa... OMIM:615234
Body Mass Index Quantitative Trait Locus 19
Hyperlipidemia, Hypertriglyceridemia OMIM:617885
Proteasome-Associated Autoinflammatory Syndrome 3
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Thrombocytopenia, Lymphadenopathy, Lymphopenia,... OMIM:617591
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatomegaly, Anisocytosis, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, Increased circ... OMIM:616860
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypertriglyceridemia, Hypospadias, External genital hypoplasia, Ovotestis, Ambiguous genitalia, H... OMIM:610644
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Hepatomegaly, Hypertriglyceridemia, Profound hearing impairment, Splenomegaly, ... OMIM:619418
Familial Cold Autoinflammatory Syndrome 2
Elevated circulating C-reactive protein concentration, Splenomegaly, Leukocytosis, Sensorineural ... OMIM:611762
Griscelli Syndrome Type 2
Hepatomegaly, Pancytopenia, Splenomegaly, Jaundice, Hyperlipidemia, Lymphadenopathy, Hemophagocyt... ORPHA:79477
H Syndrome
Hypertriglyceridemia, Hearing impairment, Microcytic anemia, Lymphadenopathy, Hepatosplenomegaly,... ORPHA:168569
Bile Acid Synthesis Defect, Congenital, 5
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron deficiency anemia, Portal fibrosi... OMIM:616278
Tyrosinemia Type 1
Splenomegaly, Hepatocellular carcinoma, Hepatomegaly ORPHA:882
Ras-Associated Autoimmune Leukoproliferative Disorder
Hepatomegaly, Pancytopenia, Hemolytic anemia, Follicular hyperplasia, Autoimmune thrombocytopenia... OMIM:614470
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency
Hypertriglyceridemia, Increased HDL cholesterol concentration ORPHA:140905
Immunodeficiency 27A
Splenomegaly, Leukocytosis, Enlarged mesenteric lymph node, Lymphadenopathy, Hepatosplenomegaly, ... OMIM:209950
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hypertriglyceridemia, Hepatitis, Cholestasis, Increased LDL cholesterol concentration, Acute hepa... ORPHA:209902
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Facial... OMIM:601596
Mu-Heavy Chain Disease
Hepatomegaly, Abnormal B cell count, Splenomegaly, Lymphadenopathy, Anemia ORPHA:100024
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropen... OMIM:615285
Immunodeficiency 76
Splenomegaly, Lymphadenopathy, T lymphocytopenia, B lymphocytopenia, Lymphopenia OMIM:619164
Abcd Syndrome
Aganglionic megacolon, Abnormal auditory evoked potentials, Total intestinal aganglionosis, Polyc... OMIM:600501
Lcat Deficiency
Decreased circulating apolipoprotein A-I concentration, Hemolytic anemia, Decreased HDL cholester... ORPHA:650
Follicular Lymphoma
Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:545
Hurler-Scheie Syndrome
Hepatomegaly, Abnormality of the tonsils, Splenomegaly, Sensorineural hearing impairment, Abnorma... ORPHA:93476
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... OMIM:618534
Smith-Magenis Syndrome
Hypertriglyceridemia, Precocious puberty, EEG abnormality, Conductive hearing impairment, Hyperch... ORPHA:819
Abdominal Obesity-Metabolic Syndrome 4
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri... OMIM:618620
Hemophagocytic Syndrome Associated With An Infection
Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Splenomegaly, Thrombocytopenia, Increased circu... ORPHA:158048
Ataxia With Vitamin E Deficiency
Hypertriglyceridemia, Increased LDL cholesterol concentration, Xanthelasma, Abnormality of centra... OMIM:277460
Alstrom Syndrome
Hepatomegaly, Decreased HDL cholesterol concentration, Chronic active hepatitis, Hypergonadotropi... OMIM:203800
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Fish-Eye Disease
Hepatomegaly, Splenomegaly, Decreased HDL cholesterol concentration, Lymphadenopathy ORPHA:79292
Charcot-Marie-Tooth Disease, Type 4D
Decreased nerve conduction velocity, Sensorineural hearing impairment, Abnormal auditory evoked p... OMIM:601455
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypertriglyceridemia, Peritonitis, Hypoalbuminemia, Hypercholesterolemia, Abnormal circulating li... ORPHA:567548
Chédiak-Higashi Syndrome
Abnormal leukocyte morphology, Hyponatremia, Pancytopenia, Hypertriglyceridemia, Decreased nerve ... ORPHA:167
Immunodeficiency 42
Splenomegaly, Hypoplasia of the thymus, Hepatomegaly OMIM:616622
Alpha-Thalassemia
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ... ORPHA:846
Familial Chylomicronemia Syndrome
Acute pancreatitis, Hypertriglyceridemia, Jaundice, Hyperlipidemia, Hepatosplenomegaly, Recurrent... ORPHA:444490
Chylomicron Retention Disease
Hypertriglyceridemia, Acanthocytosis, Steatorrhea, Hypocholesterolemia, Increased hepatocellular ... ORPHA:71
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Hypouricemia, Increased circulating guanosine concentration, Pure re... OMIM:613179
Glycosylphosphatidylinositol Biosynthesis Defect 1
Portal vein thrombosis, Splenomegaly, Portal hypertension, Hepatomegaly OMIM:610293
Dysbetalipoproteinemia
Hepatomegaly, Acute pancreatitis, Decreased HDL cholesterol concentration, Hypertriglyceridemia, ... ORPHA:412
Chronic Bilirubin Encephalopathy
Hemolytic anemia, Abnormal auditory evoked potentials, Sensorineural hearing impairment, Hypoalbu... ORPHA:529808
Acute Bilirubin Encephalopathy
Hemolytic anemia, Abnormal auditory evoked potentials, Sensorineural hearing impairment, Hypoalbu... ORPHA:529799
Anemia, Congenital Dyserythropoietic, Type Ii
Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis OMIM:224100
Mohr-Tranebjaerg Syndrome
Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy, Prelingual ... ORPHA:52368
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... ORPHA:251380
Hyperlipidemia, Familial Combined, 3
Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c... OMIM:144250
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Splenomegaly, Polycy... ORPHA:280365
Autoimmune Lymphoproliferative Syndrome
Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, F... OMIM:601859
Beta-Thalassemia
Hepatomegaly, Hypogonadotropic hypogonadism, Abnormal hemoglobin, Microcytic anemia, Splenomegaly... ORPHA:848
Anemia, Congenital Dyserythropoietic, Type Ib
Hepatomegaly, Reticulocytosis, Anisocytosis, Anemia of inadequate production, Splenomegaly, Jaund... OMIM:615631
Lysinuric Protein Intolerance
Decreased HDL cholesterol concentration, Decreased response to growth hormone stimulation test, L... ORPHA:470
Neutral Lipid Storage Disease With Ichthyosis
Hepatomegaly, Hypertriglyceridemia, Micronodular cirrhosis, Sensorineural hearing impairment, Abn... ORPHA:98907
Autosomal Dominant Optic Atrophy Plus Syndrome
Temporal optic disc pallor, Absent brainstem auditory responses, Sensorineural hearing impairment... ORPHA:1215
Lipodystrophy, Congenital Generalized, Type 4
Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Splenomeg... OMIM:613327
Glycogen Storage Disease Iii
Hepatomegaly, Hyperlipidemia, Hepatic fibrosis, Elevated circulating creatine kinase concentration OMIM:232400
Acquired Generalized Lipodystrophy
Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Polycystic ovaries, Cirrhosis, Abnormal c... ORPHA:79086
Hemochromatosis, Type 1
Hepatomegaly, Hypogonadotropic hypogonadism, Cardiomegaly, Splenomegaly, Increased circulating fe... OMIM:235200
Harderoporphyria
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Splenomegaly, Increased circulating ferritin con... OMIM:618892
Pyruvate Kinase Deficiency Of Red Cells
Hepatomegaly, Decreased hemoglobin concentration, Reticulocytosis, Reduced red cell pyruvate kina... OMIM:266200
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Optic disc pallor, Abnormal auditory evoked potentials OMIM:617523
Mogs-Cdg
Hepatomegaly, Absent brainstem auditory responses, External genital hypoplasia, Cardiomegaly, Sen... ORPHA:79330
Portal Hypertension, Noncirrhotic, 1
Splenomegaly, Portal hypertension, Hepatomegaly OMIM:617068
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hepatomegaly, Hyperlipidemia, Portal fibrosis, Hepatic fibrosis, Cirrhosis, Hepatocellular carcin... ORPHA:369
Diarrhea 7, Protein-Losing Enteropathy Type
Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia OMIM:615863
Leukocyte Adhesion Deficiency, Type Iii
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Abnormal lymph node morph... OMIM:612840
Cholestasis, Progressive Familial Intrahepatic, 3
Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Portal inflammation, Portal fibro... OMIM:602347
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, H... OMIM:235700
Lymphoproliferative Syndrome 1
Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Elevated circulating C-reactive protein ... OMIM:613011
Lysosomal Acid Lipase Deficiency
Hyponatremia, Hypertriglyceridemia, Bone-marrow foam cells, Hypersplenism, Microvesicular hepatic... ORPHA:275761
Gaisböck Syndrome
Hypertriglyceridemia, Splenomegaly, Increased mean corpuscular hemoglobin concentration, Hyperpro... ORPHA:90041
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Optic disc pallor, Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:619260
Dehydrated Hereditary Stomatocytosis 2
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Increase... OMIM:616689
Hepatoportal Sclerosis
Portal hypertension, Nodular regenerative hyperplasia of liver, Hypersplenism, Splenomegaly, Port... ORPHA:64743
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating creatine kina... ORPHA:98855
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Hepatomegaly, Decreased proportion of naive T cells, Jaundice, Lymph node hypoplasia, Abnormally ... ORPHA:276
Anemia, Congenital Dyserythropoietic, Type Iv
Decreased hemoglobin concentration, Circulating nucleated red blood cells, Anisocytosis, Erythroi... OMIM:613673
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Hypertriglyceridemia, Cryptorchidism, Hypoalbuminemia, Hypocalcemia, Low-set ears, ... OMIM:618183
Nephrotic Syndrome, Type 2
Hyperlipidemia, Hypoalbuminemia OMIM:600995
Fanconi-Bickel Syndrome
Hepatomegaly, Hypertriglyceridemia, Hypophosphatemia, Abnormal hepatic glycogen storage, Hepatoce... ORPHA:2088
Bile Acid Synthesis Defect, Congenital, 1
Giant cell hepatitis, Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, Intrah... OMIM:607765
Lipodystrophy, Congenital Generalized, Type 1
Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Splenomegaly, Labial hypertrophy, Polycys... OMIM:608594
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
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:109120
Chronic Visceral Acid Sphingomyelinase Deficiency
Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Autoimmune thrombocy... ORPHA:77293
Lipodystrophy, Congenital Generalized, Type 2
Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Elevated hemoglobin A1c, Splenomegaly, La... OMIM:269700
Osteopetrosis, Autosomal Recessive 4
Hepatomegaly, Reticulocytosis, Optic disc pallor, Facial palsy, Splenomegaly, Thrombocytopenia, O... OMIM:611490
Lipodystrophy, Familial Partial, Type 2
Hepatomegaly, Acute pancreatitis, Decreased HDL cholesterol concentration, Hypertriglyceridemia, ... OMIM:151660
Focal Segmental Glomerulosclerosis 1
Hyperlipidemia, Ascites, Hypoalbuminemia, Anemia OMIM:603278
Hemoglobin E Disease
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... ORPHA:2133
Ornithine Transcarbamylase Deficiency
Splenomegaly, Hyperammonemia ORPHA:664
Spherocytosis, Type 1
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbilirubinemia, Cho... OMIM:182900
Mandibuloacral Dysplasia
Hypercholesterolemia, Hypertriglyceridemia, Increased circulating free fatty acid level ORPHA:2457
Dehydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Cholelithiasis, Anemia of inadequate produc... ORPHA:3202
Sclerosing Cholangitis, Neonatal
Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir... OMIM:617394
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Absent brainstem auditory responses, Aganglionic megacolon, Portal hypertension, Short-segment ag... OMIM:609136
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypoparathyroidism, Hypertriglyceridemia, Hypercalcemia, Precocious puberty, Multifocal epileptif... ORPHA:369837
Autoimmune Lymphoproliferative Syndrome, Type Iia
Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, F... OMIM:603909
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Absent brainstem auditory responses, Increased circulating ferritin concentration, Vestibular are... ORPHA:3240
Cockayne Syndrome Type 1
Hepatomegaly, Absent brainstem auditory responses, Cryptorchidism, Optic atrophy, Abnormality of ... ORPHA:90321
Arthrogryposis, Distal, Type 2A
Cryptorchidism, Abnormal auditory evoked potentials, Hearing impairment OMIM:193700
Nephronophthisis 19
Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Cholestasis, Bile duct prol... OMIM:616217
Cholestasis, Progressive Familial Intrahepatic, 9
Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Splenomegaly, Intrah... OMIM:619849
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hepatomegaly, Hypertriglyceridemia, Chronic neutropenia, Hyperlipidemia, Hepatocellular adenoma, ... ORPHA:79259
Late-Infantile/Juvenile Krabbe Disease
Decreased nerve conduction velocity, Prolonged brainstem auditory evoked potentials, EEG with per... ORPHA:206443
Bile Acid Synthesis Defect, Congenital, 2
Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Hyperbilirubinemia, Steatorrhea OMIM:235555
Systemic-Onset Juvenile Idiopathic Arthritis
Hepatomegaly, Splenomegaly, Elevated circulating C-reactive protein concentration, Lymphadenopathy ORPHA:85414
Cholestasis, Progressive Familial Intrahepatic, 2
Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Intrahepatic cholestasis, Intermittent... OMIM:601847
Spherocytosis, Type 4
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbilirubinemia OMIM:612653
Beta-Thalassemia Intermedia
Hypoparathyroidism, Hepatomegaly, Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia... ORPHA:231222
Xp21 Deletion Syndrome
Hypertriglyceridemia, Hypogonadotropic hypogonadism, Elevated circulating creatine kinase concent... ORPHA:261476
Cholestasis, Progressive Familial Intrahepatic, 1
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Conjugated hyperbilirubinemia, Spl... OMIM:211600
Werner Syndrome
Hypertriglyceridemia, Hypogonadism, Elevated hemoglobin A1c OMIM:277700
Immunodeficiency 87 And Autoimmunity
Decreased proportion of CD4-positive T cells, Hemolytic anemia, Hepatomegaly, Lymphopenia, Autoim... OMIM:619573
Spherocytosis, Type 2
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbi... OMIM:616649
Omenn Syndrome
Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenop... OMIM:603554
Bile Acid Synthesis Defect, Congenital, 3
Hepatomegaly, Splenomegaly, Intrahepatic cholestasis, Jaundice, Hepatitis, Steatorrhea, Acholic s... OMIM:613812
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Hepatomegaly, Reticulocytosis, Splenomegaly, Jaundice, Increased circulating ferritin concentrati... OMIM:194380
Parenteral Nutrition-Associated Cholestasis
Hepatomegaly, Portal hypertension, Biliary hyperplasia, Splenomegaly, Jaundice, Conjugated hyperb... ORPHA:567983
Seckel Syndrome 10
Acute pancreatitis, Hypertriglyceridemia, Elevated hemoglobin A1c, Elevated circulating luteinizi... OMIM:617253
Lipodystrophy, Familial Partial, Type 6
Hyperlipidemia, Abnormal circulating lipid concentration, Hepatic steatosis, Elevated circulating... OMIM:615980
Spherocytosis, Type 5
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count... OMIM:612690
Proteasome-Associated Autoinflammatory Syndrome 1
Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Parotitis, Elevated ... OMIM:256040
Sitosterolemia 1
Reticulocytosis, Hyperapobetalipoproteinemia, Splenomegaly, Thrombocytopenia, Giant platelets, El... OMIM:210250
Cockayne Syndrome A
Hepatomegaly, Abnormal pinna morphology, Abnormal auditory evoked potentials, Decreased nerve con... OMIM:216400
Agammaglobulinemia, X-Linked
Hepatocellular carcinoma, Enteroviral hepatitis, Epididymitis, Lymph node hypoplasia, T lymphocyt... OMIM:300755
Abdominal Obesity-Metabolic Syndrome 3
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:615812
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperlipidemia ORPHA:329249
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Poikilocytosis, Prolonged ne... OMIM:300908
Neutral Lipid Storage Myopathy
Hepatomegaly, Hypertriglyceridemia, Chronic pancreatitis, Sensorineural hearing impairment, Pinea... ORPHA:98908
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple... OMIM:613470
Erythrocytosis, Familial, 8
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:222800
Overhydrated Hereditary Stomatocytosis
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Stomatocytosis, Increase... OMIM:185000
Anemia, Congenital Dyserythropoietic, Type Ia
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Anisocytosis, Anemia of inadequate production, S... OMIM:224120
Immunodeficiency 98 With Autoinflammation, X-Linked
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Bone... OMIM:301078
Hereditary Elliptocytosis
Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Stoma... ORPHA:288
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Hyperlipidemia, Mildly elevated creatine kinase OMIM:604484
Glycerol Kinase Deficiency
Hypertriglyceridemia, Hyperglycerolemia, Chronic pancreatitis, Cryptorchidism, Low-set ears OMIM:307030
Meige Disease
Lymph node hypoplasia, Absence of lymph node germinal center ORPHA:90186
Cockayne Syndrome B
Hepatomegaly, Abnormal pinna morphology, Abnormal auditory evoked potentials, Decreased nerve con... OMIM:133540
Infantile Krabbe Disease
Decreased nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Optic atroph... ORPHA:206436
Adult-Onset Autosomal Dominant Leukodystrophy
Orthostatic hypotension, EEG with generalized slow activity, Abnormal auditory evoked potentials,... ORPHA:99027
19P13.12 Microdeletion Syndrome
Hypospadias, Precocious puberty, Cryptorchidism, Hyperlipidemia, External ear malformation, Senso... ORPHA:254346
Leukodystrophy, Hypomyelinating, 13
Prolonged brainstem auditory evoked potentials, Optic atrophy OMIM:616881
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hyperlipidemia, Hyperuricemia ORPHA:364
Classical-Like Ehlers-Danlos Syndrome Type 2
Cryptorchidism, Macrotia, Hypertriglyceridemia ORPHA:536532
Felty Syndrome
Splenomegaly, Neutropenia OMIM:134750
Charcot-Marie-Tooth Disease Type 1F
Decreased nerve conduction velocity, Absent brainstem auditory responses, Sensorineural hearing i... ORPHA:101085
Trisomy 10P
Absent gallbladder, Posteriorly rotated ears, Abnormal auditory evoked potentials, EEG with burst... ORPHA:171929
Chronic Myeloid Leukemia
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... ORPHA:521
Caroli Disease
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Conjugated hyp... ORPHA:53035
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... ORPHA:3203
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia OMIM:617441
Adult Krabbe Disease
Prolonged brainstem auditory evoked potentials, EEG abnormality ORPHA:206448
Glycogen Storage Disease Ib
Hepatomegaly, Pancreatic fibrosis, Splenomegaly, Hyperlipidemia, Neutropenia, Xanthelasma, Hyperu... OMIM:232220
Mend Syndrome
Abnormal auditory evoked potentials, Cryptorchidism, Elevated 8-dehydrocholesterol, Elevated 8(9)... ORPHA:401973
Cerebrotendinous Xanthomatosis
Optic disc pallor, Abnormal auditory evoked potentials, Optic neuropathy, Decreased nerve conduct... ORPHA:909
Cryohydrocytosis
Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis OMIM:185020
Sickle Cell Disease
Hemolytic anemia, Hepatomegaly, Cardiomegaly, Splenomegaly, Splenic infarction, Jaundice, Leukocy... OMIM:603903
Alagille Syndrome 1
Hypertriglyceridemia, Hepatocellular carcinoma, Cholestasis, Reduced number of intrahepatic bile ... OMIM:118450
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Pancreatic fibrosis, Portal hypertension, Malformation of the hepatic ductal plate,... OMIM:208540
Lmna-Related Cardiocutaneous Progeria Syndrome
Abnormal intrahepatic bile duct morphology, Hypercholesterolemia, Hypertriglyceridemia ORPHA:363618
Elliptocytosis 1
Splenomegaly, Jaundice, Hemolytic anemia, Elliptocytosis OMIM:611804
Wiedemann-Rautenstrauch Syndrome
Hypertriglyceridemia, Hypospadias, Posteriorly rotated ears, Cryptorchidism, Long penis, Hypoplas... OMIM:264090
Primary Triglyceride Deposit Cardiomyovasculopathy
Hepatomegaly, Elevated circulating creatine kinase concentration, Splenomegaly, Hyperlipidemia, V... ORPHA:565612
Mandibuloacral Dysplasia Progeroid Syndrome
Hepatomegaly, Hypertriglyceridemia, Elevated hemoglobin A1c, Macrovesicular hepatic steatosis, Le... OMIM:619127
Nephrotic Syndrome, Type 1
Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia OMIM:256300
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Elevated circulat... ORPHA:228308
Lipodystrophy, Familial Partial, Type 7
Orthostatic hypotension, Hypertriglyceridemia, Recurrent pancreatitis, Low-set ears, Hypercholest... OMIM:606721
Carnitine Palmitoyltransferase Ii Deficiency
Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulating acylcarnit... ORPHA:157
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Paradoxical increased cortisol secretion on dexamethasone suppression test, Pituitary adenoma, Pr... ORPHA:189427
Atypical Werner Syndrome
Hypertriglyceridemia, Ovarian neoplasm, Hypogonadism, Abnormal testis morphology, Hepatic steatosis ORPHA:79474
Aromatase Deficiency
Macroorchidism, postpubertal, Hypergonadotropic hypogonadism, Enlarged polycystic ovaries, Crypto... ORPHA:91
Wiedemann-Rautenstrauch Syndrome
Hypertriglyceridemia, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimula... ORPHA:3455
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Reticulocytosis, Hyperlipidemia, Schistocytosis, Elevated circulating creatinine concentration, M... OMIM:235400
Woodhouse-Sakati Syndrome
Hypergonadotropic hypogonadism, Hypogonadotropic hypogonadism, Hypoplasia of the fallopian tube, ... OMIM:241080
Congenital Analbuminemia
Hyperlipidemia, Increased alpha-globulin, Hypoalbuminemia, Hypercholesterolemia, Hypoproteinemia ORPHA:86816
Glycogen Storage Disease Ia
Hepatomegaly, Hyperlipidemia, Xanthelasma, Hyperuricemia, Hepatocellular carcinoma, Pancreatitis,... OMIM:232200
Alström Syndrome
Decreased response to growth hormone stimulation test, Hypoplasia of the Leydig cells, Hepatic fi... ORPHA:64
Woodhouse-Sakati Syndrome
Streak ovary, Hypoplasia of the fallopian tube, Decreased response to growth hormone stimulation ... ORPHA:3464
Mandibuloacral Dysplasia With Type A Lipodystrophy
Hyperlipidemia, Breast aplasia, Hearing impairment ORPHA:90153
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Hydrocele testis, Hyperlipidemia, Ascites, Hypoalbuminemia ORPHA:567546
Glycogen Storage Disease Ic
Hepatomegaly, Cyclic neutropenia, Chronic pancreatitis, Hyperlipidemia, Xanthelasma, Hyperuricemi... OMIM:232240
Homozygous Familial Hypercholesterolemia
Optic neuropathy, Hyperlipidemia, Increased LDL cholesterol concentration, Hypercholesterolemia, ... ORPHA:391665
Epiphyseal Dysplasia, Multiple, 3
Elevated circulating creatine kinase concentration, Mildly elevated creatine kinase 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
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
Skeletal muscle - MPATH pathological process term dystrophy Col9a3em1(IMPC)Tcp HOM Early adult
Bone - MPATH pathological process term dysplasia Col9a3em1(IMPC)Tcp HOM Early adult
Bone - 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.

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
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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