banner
Genes Phenotypes Help, News, Blog

Gene: Col9a3 MGI:894686

Log in to follow

Gene Summary

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

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

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

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
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

View images
X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

View images
Histopathology

Images

16 Images

View images
Gross Pathology and Tissue Collection

Images

8 Images

View images
X-ray

XRay Images Whole Body Lateral Orientation

10 Images

View images
X-ray

XRay Images Whole Body Dorso Ventral

10 Images

View images
X-ray

XRay Images Skull Lateral Orientation

10 Images

View images
Eye Morphology

Images Slit Lamp

9 Images

View 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
Fetal Cytomegalovirus Syndrome
Sensorineural hearing impairment, Hepatomegaly, Splenomegaly, Anemia ORPHA:294
Glycogen Storage Disease Vi
Hepatomegaly, Hypertriglyceridemia, Hyperlipidemia, Hypercholesterolemia, Increased hepatic glyco... OMIM:232700
Hypertriglyceridemia, Transient Infantile
Hepatic fibrosis, Hepatomegaly, Hypertriglyceridemia, Hepatic steatosis, Splenomegaly OMIM:614480
Hemophagocytic Lymphohistiocytosis, Familial, 4
Jaundice, Hemophagocytosis, Anemia, Hepatomegaly, Hypertriglyceridemia, Thrombocytopenia, Lymphad... OMIM:603552
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hepatosplenomegaly, Hemophagocytosis, Anemia, Low-frequency sensorineural hearing impairment, Hyp... OMIM:613101
Hypertriglyceridemia 2
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia OMIM:619324
Niemann-Pick Disease, Type B
Increased LDL cholesterol concentration, Bone-marrow foam cells, Anemia, Hepatomegaly, Sea-blue h... OMIM:607616
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hepatosplenomegaly, Hemophagocytosis, Anemia, Hypertriglyceridemia, Granulocytopenia OMIM:608898
Atherosclerosis Susceptibility
Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:108725
Hyperlipoproteinemia, Type Ii, And Deafness
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia, Hearing impa... OMIM:144300
Auditory Neuropathy, Autosomal Dominant 1
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:609129
Deafness, Autosomal Recessive 9
Sensorineural hearing impairment, Absent brainstem auditory responses OMIM:601071
Morbid Obesity And Spermatogenic Failure
Increased LDL cholesterol concentration, Hypertriglyceridemia, Decreased HDL cholesterol concentr... OMIM:615703
Deafness, Autosomal Recessive 104
Prelingual sensorineural hearing impairment, Absent brainstem auditory responses OMIM:616515
Fish-Eye Disease
Hypertriglyceridemia, Increased LDL cholesterol concentration, Decreased HDL cholesterol concentr... OMIM:136120
Lipodystrophy, Congenital Generalized, Type 3
Hepatosplenomegaly, Hepatomegaly, Splenomegaly, Hypertriglyceridemia, Hepatic steatosis, Hypocalc... OMIM:612526
Cholesteryl Ester Storage Disease
Jaundice, Hepatomegaly, Cirrhosis, Splenomegaly, Hypertriglyceridemia, Hypercholesterolemia ORPHA:75234
Neutral Lipid Storage Disease With Myopathy
Hepatomegaly, Elevated circulating creatine kinase concentration, Hypertriglyceridemia, Hepatic s... OMIM:610717
Glycogen Storage Disease Ixa1
Hyperuricemia, Hepatomegaly, Splenomegaly, Hypertriglyceridemia, Hypercholesterolemia OMIM:306000
Lymphoproliferative Syndrome, X-Linked, 2
Aplastic anemia, Hemophagocytosis, Hepatomegaly, Hepatitis, Hypertriglyceridemia, Pancytopenia, I... OMIM:300635
Charcot-Marie-Tooth Disease, Type 4B1
Facial palsy, Abnormal auditory evoked potentials, Decreased motor nerve conduction velocity OMIM:601382
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypertriglyceridemia ORPHA:366
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Hepatosplenomegaly, Hepatocellular carcinoma, Hemophagocytosis, Anemia, Prostate cancer, Acute ly... ORPHA:158057
Hypertriglyceridemia 1
Hypertriglyceridemia, Hypopituitarism, Increased VLDL cholesterol concentration OMIM:145750
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hypertriglyceridemia, Hepatomegaly OMIM:615924
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Hyperlipoproteinemia, Recurrent pancreatitis, Splenomegaly OMIM:118830
Coronary Artery Disease, Autosomal Dominant 2
Hypertriglyceridemia, Increased LDL cholesterol concentration OMIM:610947
Hypercholesterolemia, Familial, 4
Hypertriglyceridemia, Decreased LDL cholesterol concentration, Hypercholesterolemia OMIM:603813
Lecithin:Cholesterol Acyltransferase Deficiency
Hypertriglyceridemia, Normochromic anemia, Hemolytic anemia, Decreased HDL cholesterol concentration OMIM:245900
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Tangier Disease
Decreased circulating apolipoprotein A-I concentration, Facial diplegia, Left ventricular hypertr... OMIM:205400
Cholesteryl Ester Storage Disease
Hepatosplenomegaly, Increased LDL cholesterol concentration, Leukopenia, Hypercholesterolemia, Bo... OMIM:278000
Glycosylphosphatidylinositol Biosynthesis Defect 17
Hypertriglyceridemia OMIM:618010
Apolipoprotein C-Ii Deficiency
Pancreatitis, Hepatomegaly, Splenomegaly, Hypertriglyceridemia, Decreased circulating apolipoprot... OMIM:207750
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypoproteinemia, Jaundice, Increased LDL cholesterol concentration, Leukopenia, Hemophagocytosis,... OMIM:267700
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Hypertriglyceridemia, Increased LDL cholesterol concentration, Elevated circulating creatine kina... OMIM:616516
Ravine Syndrome
Abnormal auditory evoked potentials ORPHA:99852
Plin1-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Polycystic ovaries, Hepatic fibrosis, Hepatic steatosis ORPHA:280356
Lipase Deficiency, Combined
Hypertriglyceridemia, Pancreatitis OMIM:246650
Immunodeficiency 97 With Autoinflammation
Hepatosplenomegaly, Neutropenia in presence of anti-neutropil antibodies, Decreased proportion of... OMIM:619802
Macrophage Activation Syndrome
Hemophagocytosis, Anemia, Hepatomegaly, Hepatitis, Abnormal natural killer cell count, Hypertrigl... ORPHA:158061
Glycogen Storage Disease Ixc
Bile duct proliferation, Hepatomegaly, Cirrhosis, Hypertriglyceridemia, Splenomegaly, Increased h... OMIM:613027
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Hypertriglyceridemia, Hepatic steatosis ORPHA:436182
Optic Atrophy 8
Prolonged somatosensory evoked potentials, Optic atrophy, Abnormal auditory evoked potentials, Se... OMIM:616648
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hepatosplenomegaly, Hypopituitarism, Microcytic anemia, Hypertriglyceridemia, Hepatic steatosis, ... OMIM:619013
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Hemophagocytosis, Anemia, Hypertriglyceridemia, Pancytopenia, Increased circulating ferritin conc... OMIM:618398
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Hepatomegaly, Splenomegaly, Anemia ORPHA:46532
Cholestasis, Progressive Familial Intrahepatic, 10
Jaundice, Hypercholesterolemia, Hepatomegaly, Conjugated hyperbilirubinemia, Increased total bili... OMIM:619868
Papular Xanthoma
Hyperlipidemia, Histiocytosis ORPHA:158008
Hyperlipoproteinemia, Type Id
Recurrent pancreatitis, Decreased LDL cholesterol concentration, Pancreatitis, Hyperlipoproteinem... OMIM:615947
Galactosemia Iii
Jaundice, Hypergalactosemia, Hepatomegaly, Sensorineural hearing impairment, Splenomegaly OMIM:230350
Hemoglobin H Disease
HbH hemoglobin, Hemolytic anemia, Hepatomegaly, Reduced alpha/beta synthesis ratio, Splenomegaly OMIM:613978
Temple Syndrome
Decreased testicular size, Cryptorchidism, Posteriorly rotated ears, Hypertriglyceridemia, Hyperc... OMIM:616222
Hyperlipoproteinemia, Type I
Hepatosplenomegaly, Jaundice, Hypercholesterolemia, Pancreatitis, Hyperlipidemia, Increased circu... OMIM:238600
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hepatosplenomegaly, Hypoproteinemia, Jaundice, Leukopenia, Hemophagocytosis, Anemia, Hepatomegaly... OMIM:603553
Hyperbilirubinemia, Shunt, Primary
Jaundice, Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Hyperbilirubinemia, Ery... OMIM:237800
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Hypoplasia of the thymus, Impaired lymphocyte transformation with phytohemagglutinin, Hypoplastic... OMIM:619313
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
EEG abnormality, Sensorineural hearing impairment, Absent brainstem auditory responses, Facial palsy OMIM:617519
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphopenia, Hepatiti... ORPHA:444463
Hemochromatosis, Type 2B
Elevated transferrin saturation, Hypogonadism, Anemia, Hepatic fibrosis, Hepatomegaly, Cirrhosis,... OMIM:613313
Cholestasis, Progressive Familial Intrahepatic, 12
Jaundice, Cholestasis, Hepatomegaly, Conjugated hyperbilirubinemia, Hyperbilirubinemia, Increased... OMIM:620010
Citrullinemia, Type Ii, Adult-Onset
Hepatocellular carcinoma, Hyperammonemia, Pancreatitis, Portal inflammation, Hepatic fibrosis, El... OMIM:603471
Cholesterol-Ester Transfer Protein Deficiency
Increased HDL cholesterol concentration, Hyperlipoproteinemia, Hypotriglyceridemia, Hyperlipidemi... ORPHA:79506
Familial Hemophagocytic Lymphohistiocytosis
Jaundice, Cholestatic liver disease, Hemophagocytosis, Anemia, Hepatomegaly, Hypertriglyceridemia... ORPHA:540
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Jaundice, Splenomegaly, Nonspherocytic hemolytic anemia OMIM:206400
Cholestasis-Lymphedema Syndrome
Jaundice, Neonatal cholestatic liver disease, Hepatomegaly, Cirrhosis, Conjugated hyperbilirubine... OMIM:214900
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal motor evoked potentials, Abnormal auditory evoked potentials, Abnormality of somatosenso... ORPHA:320401
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Cryptorchidism, Hepatomegaly, Hypertriglyceridemia, Hepatic steatosis, Sensorineural hearing impa... OMIM:615381
Akt2-Related Familial Partial Lipodystrophy
Polycystic ovaries, Hepatomegaly, Hypertriglyceridemia, Hyperlipidemia, Hepatic steatosis ORPHA:79085
Mast Cell Sarcoma
Mastocytosis, Hepatomegaly, Lymphadenopathy, Hypoplasia of the ear cartilage, Mediastinal lymphad... ORPHA:66661
Lipodystrophy, Familial Partial, Type 1
Hypertriglyceridemia, Acute pancreatitis, Hepatomegaly OMIM:608600
Hemoglobin D Disease
Abnormal hemoglobin, Anemia, Decreased mean corpuscular volume, HbS hemoglobin, Decreased mean co... ORPHA:90039
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Jaundice, Cholestasis, Hepatic bridging fibrosis, Elevated circulating gamma-aminobutyric acid co... OMIM:619658
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Hypersplenism, Pancytopenia, Decreased helper T cell proportion, Splenomegaly OMIM:183350
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Cholestasis, Elevated circulating alpha-fetoprotein concentration, Abnormal circulating glutamine... ORPHA:247598
Congenital Disorder Of Glycosylation, Type Iio
Hepatosplenomegaly, Increased LDL cholesterol concentration, Cholestatic liver disease, Hyperchol... OMIM:616828
Obesity Due To Congenital Leptin Deficiency
Hypoplasia of the ovary, Decreased testicular size, Hypergonadotropic hypogonadism, Hypertriglyce... ORPHA:66628
Citrullinemia, Type Ii, Neonatal-Onset
Hypercholesterolemia, Intrahepatic cholestasis, Hypertyrosinemia, Hyperthreoninemia, Hypermethion... OMIM:605814
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Abnormal auditory evoked potentials, Optic atrophy, Progressive sensorineural hearing impairment OMIM:125250
Familial Partial Lipodystrophy, Dunnigan Type
Pancreatitis, Polycystic ovaries, Hepatomegaly, Hypertriglyceridemia, Hepatic steatosis, Splenome... ORPHA:2348
Pparg-Related Familial Partial Lipodystrophy
Hyperuricemia, Pancreatitis, Polycystic ovaries, Hepatomegaly, Cirrhosis, Hypertriglyceridemia, H... ORPHA:79083
Protoporphyria, Erythropoietic, 1
Hypertriglyceridemia, Cholelithiasis, Hemolytic anemia OMIM:177000
Congenital Generalized Lipodystrophy
Polycystic ovaries, Clitoral hypertrophy, Precocious puberty in females, Hepatomegaly, Increased ... ORPHA:528
Nephrotic Syndrome, Type 14
Cryptorchidism, Micropenis, Hypogonadism, Lymphopenia, Hypertriglyceridemia, Sensorineural hearin... OMIM:617575
Cidec-Related Familial Partial Lipodystrophy
Pancreatitis, Polycystic ovaries, Hepatomegaly, Hypertriglyceridemia, Hyperlipidemia, Hepatic ste... ORPHA:435651
Obesity Due To Melanocortin 4 Receptor Deficiency
Hypertriglyceridemia ORPHA:71529
Obesity Due To Leptin Receptor Gene Deficiency
Hypoplasia of the ovary, Decreased testicular size, Hypergonadotropic hypogonadism, Hypertriglyce... ORPHA:179494
Lipe-Related Familial Partial Lipodystrophy
Polycystic ovaries, Hepatomegaly, Elevated circulating creatine kinase concentration, Hypertrigly... ORPHA:435660
Autoinflammation With Episodic Fever And Lymphadenopathy
Recurrent tonsillitis, Hepatomegaly, Microcytic anemia, Lymphadenopathy, Splenomegaly OMIM:618852
Red Cell Phospholipid Defect With Hemolysis
Hyperbilirubinemia, Intermittent jaundice, Splenomegaly, Reticulocytosis OMIM:179700
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Hepatocellular carcinoma, Abnormal erythrocyte enzyme level, Hepatocellular adenoma, Hypercholest... ORPHA:370
Lipodystrophy, Familial Partial, Type 4
Hypertriglyceridemia, Hepatic steatosis OMIM:613877
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Generalized lymphadenopathy, Absent tonsils, Hepatomegaly, Lymphopenia, Aplasia of the thymus, Eo... OMIM:602450
Lipodystrophy, Familial Partial, Type 3
Hyperuricemia, Polycystic ovaries, Cirrhosis, Hypertriglyceridemia, Decreased HDL cholesterol con... OMIM:604367
Severe Neurodegenerative Syndrome With Lipodystrophy
Hypertriglyceridemia, Hepatomegaly, Hepatic steatosis, Cirrhosis ORPHA:363400
Alpha-Heavy Chain Disease
Anemia, Hepatomegaly, Lymphadenopathy, Hypocalcemia, Splenomegaly, Ascites ORPHA:100025
Smith-Magenis Syndrome
EEG abnormality, Hearing impairment, Hypertriglyceridemia, Morphological abnormality of the middl... OMIM:182290
Immunodeficiency 69
Hepatosplenomegaly, Leukocytosis, Anemia, Pancytopenia, Thrombocytosis, Increased circulating fer... OMIM:618963
Glut1 Deficiency Syndrome 2
Reduced haptoglobin level, Reticulocytosis, Hemolytic anemia, EEG abnormality, Splenomegaly OMIM:612126
Hepatic Lipase Deficiency
Hypertriglyceridemia, Increased HDL cholesterol concentration, Hypercholesterolemia OMIM:614025
Persistent Polyclonal B-Cell Lymphocytosis
Hepatomegaly, Lymphocytosis, Splenomegaly OMIM:606445
Hypobetalipoproteinemia, Familial, 1
Decreased LDL cholesterol concentration, Steatorrhea, Acanthocytosis, Hypertriglyceridemia, Decre... OMIM:615558
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reduced red cell pyruvate kinase level, Anisocytosis, Elevated transferrin saturation, Reticulocy... ORPHA:766
Erythroleukemia, Familial, Susceptibility To
Anemia, Leukemia, Hepatomegaly, Thrombocytopenia, Erythroid hyperplasia, Splenomegaly, Acute myel... OMIM:133180
Splenoportal Vascular Anomalies
Hyperammonemia, Hepatic fibrosis, Cirrhosis, Anomalous splenoportal venous system, Splenomegaly, ... OMIM:271500
Beta-Thalassemia, Dominant Inclusion Body Type
Erythrocyte inclusion bodies, Persistence of hemoglobin F, Hepatomegaly, Microcytic anemia, Incre... OMIM:603902
Citrullinemia Type Ii
Hepatocellular carcinoma, Hypoproteinemia, Pancreatitis, Acute hyperammonemia, Hepatic fibrosis, ... ORPHA:247585
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Abnormal erythrocyte enzyme level, Hepatocellular adenoma, Hypercholesterolemia, Anemia, Cholesta... ORPHA:264580
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Decreased testicular size, External genital hypoplasia, Ambiguous genitalia, Clitoral hypertrophy... OMIM:610644
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hepatocellular carcinoma, Hepatocellular adenoma, Hypercholesterolemia, Anemia, Polycystic ovarie... ORPHA:79240
Lipodystrophy, Familial Partial, Type 5
Hypertriglyceridemia, Hepatomegaly, Hepatic steatosis, Increased C-peptide level OMIM:615238
Tangier Disease
Hepatosplenomegaly, Orange discolored tonsils, Left ventricular hypertrophy, Anemia, Facial diple... ORPHA:31150
Autoimmune Lymphoproliferative Syndrome, Type Iii
Hepatosplenomegaly, Decreased proportion of memory B cells, Decreased proportion of class-switche... OMIM:615559
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Increased LDL cholesterol concentration, Cholestasis, Cholesterol gallstones, Hepatitis, Hypertri... ORPHA:209902
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal hemoglobin, Thrombocytopenia, Splenomegaly, Anemia ORPHA:231393
Hemochromatosis, Type 2A
Hepatomegaly, Cirrhosis, Increased serum iron, Azoospermia, Hypogonadotropic hypogonadism, Increa... OMIM:602390
Proteasome-Associated Autoinflammatory Syndrome 3
Anemia, Hepatomegaly, Lymphopenia, Hypertriglyceridemia, Thrombocytopenia, Lymphadenopathy, Splen... OMIM:617591
Immunodeficiency 16
Pancytopenia, Splenomegaly, Coombs-positive hemolytic anemia OMIM:615593
Cholestasis-Lymphedema Syndrome
Biliary tract abnormality, Jaundice, Neonatal cholestatic liver disease, Hepatomegaly, Cirrhosis,... ORPHA:1414
Body Mass Index Quantitative Trait Locus 19
Hypertriglyceridemia, Hyperlipidemia OMIM:617885
H Syndrome
Hepatosplenomegaly, Decreased testicular size, Micropenis, Enlarged kidney, Hypogonadism, Microcy... ORPHA:168569
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatosplenomegaly, Anisocytosis, Jaundice, Anemia, Decreased mean corpuscular volume, Hepatomega... OMIM:616860
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Cholestatic liver disease, Anemia, Bilateral sensorineural hearing impairment, Hepatomegaly, Prol... OMIM:619418
Anemia, Hypochromic Microcytic, With Iron Overload 2
Elevated transferrin saturation, Hypogonadism, Anemia, Decreased mean corpuscular volume, Hepatom... OMIM:615234
Familial Cold Autoinflammatory Syndrome 2
Leukocytosis, Lymphadenopathy, Elevated circulating C-reactive protein concentration, Sensorineur... OMIM:611762
Tyrosinemia Type 1
Hepatocellular carcinoma, Hepatomegaly, Splenomegaly ORPHA:882
Bile Acid Synthesis Defect, Congenital, 5
Jaundice, Hepatic fibrosis, Hepatomegaly, Portal fibrosis, Hyperbilirubinemia, Portal hypertensio... OMIM:616278
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency
Hypertriglyceridemia, Increased HDL cholesterol concentration ORPHA:140905
Immunodeficiency 27A
Hepatosplenomegaly, Leukocytosis, Anemia, Histiocytosis, Lymphadenopathy, Thrombocytosis, Enlarge... OMIM:209950
Ras-Associated Autoimmune Leukoproliferative Disorder
Hemolytic anemia, Leukemia, Autoimmune thrombocytopenia, Hepatomegaly, Follicular hyperplasia, Pa... OMIM:614470
Griscelli Syndrome Type 2
Jaundice, Hemophagocytosis, Hepatomegaly, Hyperlipidemia, Lymphadenopathy, Pancytopenia, Splenome... ORPHA:79477
Charcot-Marie-Tooth Disease, Type 4C
Abnormal cranial nerve morphology, Decreased motor nerve conduction velocity, Hearing impairment,... OMIM:601596
Mu-Heavy Chain Disease
Abnormal B cell count, Anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly ORPHA:100024
Abcd Syndrome
Polycythemia, Aganglionic megacolon, Total intestinal aganglionosis, Hearing impairment, Abnormal... OMIM:600501
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Leukopenia, Extramedullary hematopoiesis, Enlarged kidney, Anemia, Hepatomegaly, Thrombocytopenia... OMIM:615285
Immunodeficiency 76
Lymphopenia, B lymphocytopenia, Lymphadenopathy, Splenomegaly, T lymphocytopenia OMIM:619164
Lcat Deficiency
Hypertriglyceridemia, Decreased circulating apolipoprotein A-I concentration, Decreased HDL chole... ORPHA:650
Follicular Lymphoma
Mediastinal lymphadenopathy, Abnormality of the peritoneum, Lymphadenopathy, Splenomegaly ORPHA:545
Hurler-Scheie Syndrome
Hepatomegaly, Abnormal nerve conduction velocity, Abnormality of the tonsils, Sensorineural heari... ORPHA:93476
Immunodeficiency 64 With Lymphoproliferation
Hepatosplenomegaly, Cervical lymphadenopathy, Autoimmune thrombocytopenia, Increased proportion a... OMIM:618534
Abdominal Obesity-Metabolic Syndrome 4
Elevated hemoglobin A1c, Increased LDL cholesterol concentration, Hypertriglyceridemia, Decreased... OMIM:618620
Alstrom Syndrome
Hyperuricemia, Chronic active hepatitis, Multinodular goiter, Hepatomegaly, Decreased response to... OMIM:203800
Smith-Magenis Syndrome
Conductive hearing impairment, EEG abnormality, Hypertriglyceridemia, Hypercholesterolemia, Preco... ORPHA:819
Hemophagocytic Syndrome Associated With An Infection
Hemophagocytosis, Anemia, Hyperproteinemia, Hepatomegaly, Hypertriglyceridemia, Abnormal natural ... ORPHA:158048
Ataxia With Vitamin E Deficiency
Increased LDL cholesterol concentration, Abnormality of central somatosensory evoked potentials, ... OMIM:277460
Fish-Eye Disease
Decreased HDL cholesterol concentration, Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:79292
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin ORPHA:231242
Charcot-Marie-Tooth Disease, Type 4D
Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Sensorineural hearing i... OMIM:601455
Idiopathic Steroid-Resistant Nephrotic Syndrome
Peritonitis, Abnormal circulating lipid concentration, Hypertriglyceridemia, Hypercholesterolemia... ORPHA:567548
Chédiak-Higashi Syndrome
Vacuolated lymphocytes, Hepatosplenomegaly, Jaundice, Hypoproteinemia, Hemophagocytosis, Anemia, ... ORPHA:167
Immunodeficiency 42
Hypoplasia of the thymus, Hepatomegaly, Splenomegaly OMIM:616622
Alpha-Thalassemia
Jaundice, Hemolytic anemia, Abnormal hemoglobin, Anemia, Microcytic anemia, Hypersplenism, Cholel... ORPHA:846
X-Linked Lymphoproliferative Disease
Hemophagocytosis, Fulminant hepatitis, Histiocytosis, B lymphocytopenia, Hepatic necrosis, Hepato... ORPHA:2442
Familial Chylomicronemia Syndrome
Hepatosplenomegaly, Jaundice, Recurrent pancreatitis, Hypertriglyceridemia, Acute pancreatitis, H... ORPHA:444490
Chylomicron Retention Disease
Steatorrhea, Increased hepatocellular lipid droplets, Acanthocytosis, Hypertriglyceridemia, Hepat... ORPHA:71
Purine Nucleoside Phosphorylase Deficiency
Neutropenia in presence of anti-neutropil antibodies, Increased circulating inosine concentration... OMIM:613179
Dysbetalipoproteinemia
Increased LDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Acute pancreatitis, ... ORPHA:412
Chronic Bilirubin Encephalopathy
Hemolytic anemia, Prolonged neonatal jaundice, Abnormal auditory evoked potentials, Neonatal hype... ORPHA:529808
Acute Bilirubin Encephalopathy
Hemolytic anemia, Prolonged neonatal jaundice, Abnormal auditory evoked potentials, Neonatal hype... ORPHA:529799
Glycosylphosphatidylinositol Biosynthesis Defect 1
Portal hypertension, Hepatomegaly, Splenomegaly, Portal vein thrombosis OMIM:610293
Anemia, Congenital Dyserythropoietic, Type Ii
Jaundice, Reticulocytosis, Anemia of inadequate production, Cholelithiasis, Splenomegaly OMIM:224100
Diarrhea 10, Protein-Losing Enteropathy Type
Low-set ears, Cryptorchidism, Hypertriglyceridemia, Elevated circulating thyroid-stimulating horm... OMIM:618183
Mohr-Tranebjaerg Syndrome
Absent brainstem auditory responses, Abnormal cochlea morphology, Prelingual sensorineural hearin... ORPHA:52368
Mogs-Cdg
Hepatosplenomegaly, Absent brainstem auditory responses, Left ventricular hypertrophy, External g... ORPHA:79330
Autoimmune Lymphoproliferative Syndrome
Neutropenia in presence of anti-neutropil antibodies, Increased proportion of HLA DR+ T cells, Au... OMIM:601859
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Pancreatitis, Polycystic ovaries, Hepatomegaly, Hypertriglyceridemia, Decreased HDL cholesterol c... ORPHA:280365
Beta-Thalassemia
Anemia, Abnormal hemoglobin, Hepatomegaly, Microcytic anemia, Hepatitis, Thrombocytopenia, Hypogo... ORPHA:848
Anemia, Congenital Dyserythropoietic, Type Ib
Anisocytosis, Jaundice, Reticulocytosis, Anemia, Hepatomegaly, Anemia of inadequate production, E... OMIM:615631
Hyperlipidemia, Familial Combined, 3
Increased LDL cholesterol concentration, Elevated circulating apolipoprotein A-II concentration, ... OMIM:144250
Lysinuric Protein Intolerance
Hemophagocytosis, Hyperalaninemia, Hepatomegaly, Hepatosplenomegaly, Increased LDL cholesterol co... ORPHA:470
Neutral Lipid Storage Disease With Ichthyosis
Abnormal granulocyte morphology, Hepatomegaly, Abnormal circulating creatine kinase concentration... ORPHA:98907
Autosomal Dominant Optic Atrophy Plus Syndrome
Optic atrophy, Temporal optic disc pallor, Sensorineural hearing impairment, Absent brainstem aud... ORPHA:1215
Hemochromatosis, Type 1
Hepatocellular carcinoma, Testicular atrophy, Hepatomegaly, Cirrhosis, Increased serum iron, Azoo... OMIM:235200
Acquired Generalized Lipodystrophy
Abnormal circulating lipid concentration, Polycystic ovaries, Hepatomegaly, Cirrhosis, Hypertrigl... ORPHA:79086
Lipodystrophy, Congenital Generalized, Type 4
Hepatomegaly, Elevated circulating creatine kinase concentration, Hypertriglyceridemia, Hepatic s... OMIM:613327
Harderoporphyria
Reticulocytosis, Hemolytic anemia, Hepatomegaly, Prolonged neonatal jaundice, Increased circulati... OMIM:618892
Glycogen Storage Disease Iii
Hyperlipidemia, Hepatic fibrosis, Hepatomegaly, Elevated circulating creatine kinase concentration OMIM:232400
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Abnormal auditory evoked potentials, Optic disc pallor OMIM:617523
Pyruvate Kinase Deficiency Of Red Cells
Reduced red cell pyruvate kinase level, Jaundice, Reduced haptoglobin level, Reticulocytosis, Hep... OMIM:266200
Portal Hypertension, Noncirrhotic, 1
Portal hypertension, Hepatomegaly, Splenomegaly OMIM:617068
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hepatocellular carcinoma, Hepatic fibrosis, Hepatomegaly, Cirrhosis, Portal fibrosis, Hyperlipide... ORPHA:369
Leukocyte Adhesion Deficiency, Type Iii
Hepatosplenomegaly, Leukocytosis, Extramedullary hematopoiesis, Anemia, Hepatomegaly, Abnormal ly... OMIM:612840
Cholestasis, Progressive Familial Intrahepatic, 3
Jaundice, Intrahepatic cholestasis, Portal inflammation, Bile duct proliferation, Hepatomegaly, C... OMIM:602347
Diarrhea 7, Protein-Losing Enteropathy Type
Hyperlipidemia, Hypercholesterolemia, Hypoalbuminemia OMIM:615863
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Jaundice, Reticulocytosis, Normocytic anemia, Hyperbilirubinemia, Cholecystitis, Normochromic ane... OMIM:235700
Lysosomal Acid Lipase Deficiency
Vacuolated lymphocytes, Hepatosplenomegaly, Jaundice, Bone-marrow foam cells, Anemia, Steatorrhea... ORPHA:275761
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Abnormal auditory evoked potentials, Optic disc pallor, Sensorineural hearing impairment OMIM:619260
Lymphoproliferative Syndrome 1
Leukopenia, Anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Hepatomegaly, Throm... OMIM:613011
Dehydrated Hereditary Stomatocytosis 2
Jaundice, Anisopoikilocytosis, Reticulocytosis, Hemolytic anemia, Increased mean corpuscular hemo... OMIM:616689
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Jaundice, Absent tonsils, Decreased proportion of CD3-positive T cells, Hepatomegaly, Lymphopenia... ORPHA:276
Hepatoportal Sclerosis
Hepatocellular carcinoma, Abnormality of the hepatic vasculature, Jaundice, Leukopenia, Abnormal ... ORPHA:64743
Anemia, Congenital Dyserythropoietic, Type Iv
Reduced haptoglobin level, Hemolytic anemia, Hepatomegaly, Hepatosplenomegaly, Reticulocytosis, M... OMIM:613673
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Hypertriglyceridemia, Increased LDL cholesterol concentration, Elevated circulating creatine kina... ORPHA:98855
Fanconi-Bickel Syndrome
Hepatocellular carcinoma, Hypophosphatemia, Hepatomegaly, Hypertriglyceridemia, Abnormal hepatic ... ORPHA:2088
Bile Acid Synthesis Defect, Congenital, 1
Jaundice, Intrahepatic cholestasis, Steatorrhea, Hepatomegaly, Cirrhosis, Conjugated hyperbilirub... OMIM:607765
Gaisböck Syndrome
Increased red blood cell count, Increased circulating renin level, Increased mean corpuscular hem... ORPHA:90041
Lipodystrophy, Congenital Generalized, Type 1
Labial hypertrophy, Polycystic ovaries, Clitoral hypertrophy, Hepatomegaly, Cirrhosis, Hypertrigl... OMIM:608594
Nephrotic Syndrome, Type 2
Hyperlipidemia, Hypoalbuminemia OMIM:600995
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:109120
X-Linked Emery-Dreifuss Muscular Dystrophy
Hypertriglyceridemia, Increased LDL cholesterol concentration, Elevated circulating creatine kina... ORPHA:98863
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
Lipodystrophy, Congenital Generalized, Type 2
Labial hypertrophy, Polycystic ovaries, Clitoral hypertrophy, Hepatomegaly, Cirrhosis, Hypertrigl... OMIM:269700
Lipodystrophy, Familial Partial, Type 2
Polycystic ovaries, Hepatomegaly, Hypertriglyceridemia, Acute pancreatitis, Decreased HDL cholest... OMIM:151660
Osteopetrosis, Autosomal Recessive 4
Reticulocytosis, Anemia, Hepatomegaly, Optic disc pallor, Facial palsy, Thrombocytopenia, Optic a... OMIM:611490
Chronic Visceral Acid Sphingomyelinase Deficiency
Abnormal circulating lipid concentration, Increased LDL cholesterol concentration, Neoplasm of th... ORPHA:77293
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Hepatosplenomegaly, Hypoplasia of the semicircular canal, Short-segment aganglionic megacolon, Cr... OMIM:609136
Hemoglobin E Disease
Increased red blood cell count, Abnormal hemoglobin, Decreased mean corpuscular volume, Hypochrom... ORPHA:2133
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Reticulocytosis, Asplenia, Persistence of hemoglobin F, HbS hemoglobin, Hypochromic microcytic an... ORPHA:251380
Spherocytosis, Type 1
Jaundice, Reticulocytosis, Hemolytic anemia, Hyperbilirubinemia, Spherocytosis, Cholelithiasis, S... OMIM:182900
Ornithine Transcarbamylase Deficiency
Hyperammonemia, Splenomegaly ORPHA:664
Focal Segmental Glomerulosclerosis 1
Hyperlipidemia, Hypoalbuminemia, Ascites, Anemia OMIM:603278
Cockayne Syndrome Type 1
Cryptorchidism, Absent brainstem auditory responses, Anemia, Hepatomegaly, Increased blood urea n... ORPHA:90321
Arthrogryposis, Distal, Type 2A
Abnormal auditory evoked potentials, Cryptorchidism, Hearing impairment OMIM:193700
Mandibuloacral Dysplasia
Hypertriglyceridemia, Increased circulating free fatty acid level, Hypercholesterolemia ORPHA:2457
Dehydrated Hereditary Stomatocytosis
Increased hemoglobin concentration, Abnormal blood potassium concentration, Reticulocytosis, Poly... ORPHA:3202
Sclerosing Cholangitis, Neonatal
Ductal bile plugs, Jaundice, Cholestasis, Hepatic bridging fibrosis, Bile duct proliferation, Hep... OMIM:617394
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Low-set ears, EEG with spike-wave complexes, EEG with generalized sharp slow waves, Hypoparathyro... ORPHA:369837
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Absent brainstem auditory responses, Vestibular areflexia, Thrombocytopenia, Increased circulatin... ORPHA:3240
Cholestasis, Progressive Familial Intrahepatic, 9
Jaundice, Intrahepatic cholestasis, Hepatomegaly, Portal hypertension, Micronodular cirrhosis, Fi... OMIM:619849
Nephronophthisis 19
Cholestasis, Bile duct proliferation, Hepatic fibrosis, Hepatomegaly, Splenomegaly, Malformation ... OMIM:616217
Autoimmune Lymphoproliferative Syndrome, Type Iia
Neutropenia in presence of anti-neutropil antibodies, Increased proportion of HLA DR+ T cells, Au... OMIM:603909
Late-Infantile/Juvenile Krabbe Disease
Prolonged brainstem auditory evoked potentials, Decreased nerve conduction velocity, EEG with per... ORPHA:206443
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Abnormal myeloid leukocyte morphology, Hepatocellular carcinoma, Hepatocellular adenoma, Enlarged... ORPHA:79259
Bile Acid Synthesis Defect, Congenital, 2
Jaundice, Intrahepatic cholestasis, Steatorrhea, Hepatomegaly, Hyperbilirubinemia, Splenomegaly OMIM:235555
Cholestasis, Progressive Familial Intrahepatic, 2
Hepatocellular carcinoma, Intermittent jaundice, Intrahepatic cholestasis, Hepatomegaly, Cirrhosi... OMIM:601847
Systemic-Onset Juvenile Idiopathic Arthritis
Lymphadenopathy, Elevated circulating C-reactive protein concentration, Hepatomegaly, Splenomegaly ORPHA:85414
Xp21 Deletion Syndrome
Hypertriglyceridemia, Hypogonadotropic hypogonadism, Elevated circulating creatine kinase concent... ORPHA:261476
Beta-Thalassemia Intermedia
Hepatosplenomegaly, Hepatocellular carcinoma, Jaundice, Leukocytosis, Increased HbA2 hemoglobin, ... ORPHA:231222
Spherocytosis, Type 4
Jaundice, Reticulocytosis, Hemolytic anemia, Hyperbilirubinemia, Spherocytosis, Splenomegaly OMIM:612653
Cholestasis, Progressive Familial Intrahepatic, 1
Jaundice, Intrahepatic cholestasis with episodic jaundice, Hepatomegaly, Cirrhosis, Conjugated hy... OMIM:211600
Immunodeficiency 87 And Autoimmunity
Jaundice, Cervical lymphadenopathy, Hemolytic anemia, Decreased CD4:CD8 ratio, Cholestasis, Autoi... OMIM:619573
Werner Syndrome
Elevated hemoglobin A1c, Hypertriglyceridemia, Hypogonadism OMIM:277700
Spherocytosis, Type 2
Jaundice, Reticulocytosis, Hemolytic anemia, Acanthocytosis, Hyperbilirubinemia, Spherocytosis, S... OMIM:616649
Omenn Syndrome
Hypoplasia of the thymus, Hypoproteinemia, Anemia, Severe B lymphocytopenia, Hepatomegaly, Eosino... OMIM:603554
Bile Acid Synthesis Defect, Congenital, 3
Ductal bile plugs, Jaundice, Intrahepatic cholestasis, Hepatic bridging fibrosis, Bile duct proli... OMIM:613812
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hepatosplenomegaly, Hypoproteinemia, Low-set ears, Cryptorchidism, Micropenis, Hepatomegaly, Panc... ORPHA:1655
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Exercise-induced hemolysis, Jaundice, Reticulocytosis, Increased mean corpuscular hemoglobin conc... OMIM:194380
Seckel Syndrome 10
Elevated circulating follicle stimulating hormone level, Hypertriglyceridemia, Acute pancreatitis... OMIM:617253
Parenteral Nutrition-Associated Cholestasis
Jaundice, Hepatic fibrosis, Hepatomegaly, Abnormal circulating fatty-acid concentration, Cirrhosi... ORPHA:567983
Primary Lipodystrophy
Pancreatitis, Polycystic ovaries, Cirrhosis, Hyperlipidemia, Hepatic steatosis, Splenomegaly ORPHA:90970
Lipodystrophy, Familial Partial, Type 6
Hyperlipidemia, Abnormal circulating lipid concentration, Hepatic steatosis, Elevated circulating... OMIM:615980
Spherocytosis, Type 5
Jaundice, Reticulocytosis, Hemolytic anemia, Abnormal platelet count, Abnormal leukocyte count, S... OMIM:612690
Proteasome-Associated Autoinflammatory Syndrome 1
Hepatomegaly, Microcytic anemia, Parotitis, Hypertriglyceridemia, Decreased HDL cholesterol conce... OMIM:256040
Cockayne Syndrome A
Cryptorchidism, Micropenis, Hypogonadism, Abnormal pinna morphology, Hepatomegaly, Decreased nerv... OMIM:216400
Sitosterolemia 1
Episodic hemolytic anemia, Reduced haptoglobin level, Elevated circulating sitosterol concentrati... OMIM:210250
Abdominal Obesity-Metabolic Syndrome 3
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:615812
Glycerol Kinase Deficiency
Chronic pancreatitis, Low-set ears, Cryptorchidism, Hypertriglyceridemia, Hyperglycerolemia OMIM:307030
Neutral Lipid Storage Myopathy
Chronic pancreatitis, Hepatomegaly, Abnormal circulating creatine kinase concentration, Hypertrig... ORPHA:98908
Erythrocytosis, Familial, 8
Increased hematocrit, Polycythemia, Increased hemoglobin, Splenomegaly OMIM:222800
Agammaglobulinemia, X-Linked
Hepatocellular carcinoma, Enteroviral hepatitis, Anemia, Neutropenia, Hearing impairment, B lymph... OMIM:300755
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Fava bean-induced hemolytic anemia, Anisocytosis, Jaundice, Heinz bodies, Leukocytosis, Reticuloc... OMIM:300908
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Jaundice, Pigment gallstones, Spontaneous hemolytic crises, Impaired neutrophil bactericidal acti... OMIM:613470
Overhydrated Hereditary Stomatocytosis
Jaundice, Reticulocytosis, Hemolytic anemia, Hepatomegaly, Prolonged neonatal jaundice, Increased... OMIM:185000
Anemia, Congenital Dyserythropoietic, Type Ia
Anisocytosis, Bite cells, Reticulocytosis, Hemolytic anemia, Hepatomegaly, Prolonged neonatal jau... OMIM:224120
Adult Krabbe Disease
EEG abnormality, Prolonged brainstem auditory evoked potentials ORPHA:206448
Cockayne Syndrome B
Cryptorchidism, Micropenis, Abnormal pinna morphology, Decreased nerve conduction velocity, Hepat... OMIM:133540
Immunodeficiency 98 With Autoinflammation, X-Linked
Hemophagocytosis, Bone marrow hypocellularity, Autoimmune hemolytic anemia, Hepatomegaly, Thrombo... OMIM:301078
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperlipidemia ORPHA:329249
Hereditary Elliptocytosis
Jaundice, Elliptocytosis, Reticulocytosis, Hemolytic anemia, Abnormal erythrocyte morphology, Cho... ORPHA:288
19P13.12 Microdeletion Syndrome
Low-set ears, Cryptorchidism, Conductive hearing impairment, External ear malformation, Precociou... ORPHA:254346
Meige Disease
Lymph node hypoplasia, Absence of lymph node germinal center ORPHA:90186
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Mildly elevated creatine kinase, Hyperlipidemia OMIM:604484
Classical-Like Ehlers-Danlos Syndrome Type 2
Hypertriglyceridemia, Cryptorchidism, Macrotia ORPHA:536532
Infantile Krabbe Disease
Prolonged brainstem auditory evoked potentials, Optic atrophy, Decreased nerve conduction velocit... ORPHA:206436
Adult-Onset Autosomal Dominant Leukodystrophy
Autonomic bladder dysfunction, Abnormal autonomic nervous system physiology, Abnormal auditory ev... ORPHA:99027
Leukodystrophy, Hypomyelinating, 13
Prolonged brainstem auditory evoked potentials, Optic atrophy OMIM:616881
Felty Syndrome
Splenomegaly, Neutropenia OMIM:134750
Charcot-Marie-Tooth Disease Type 1F
Decreased nerve conduction velocity, Sensorineural hearing impairment, Absent brainstem auditory ... ORPHA:101085
Trisomy 10P
Low-set ears, Low voltage EEG, EEG with focal spikes, Posteriorly rotated ears, Abnormal auditory... ORPHA:171929
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hyperlipidemia, Hyperuricemia ORPHA:364
Chronic Myeloid Leukemia
Myeloproliferative disorder, Leukocytosis, Abnormal granulocyte morphology, Thrombocytopenia, Abn... ORPHA:521
Caroli Disease
Cholangitis, Jaundice, Leukocytosis, Liver abscess, Intrahepatic cholestasis, Cholestasis, Hepati... ORPHA:53035
Overhydrated Hereditary Stomatocytosis
Anisocytosis, Intermittent jaundice, Reticulocytosis, Hemolytic anemia, Abnormal mean corpuscular... ORPHA:3203
Mend Syndrome
Low-set ears, Elevated 8(9)-cholestenol, Cryptorchidism, Abnormal auditory evoked potentials, Ele... ORPHA:401973
Thrombocytopenia, Anemia, And Myelofibrosis
Thrombocytopenia, Anisopoikilocytosis, Splenomegaly, Anemia OMIM:617441
Glycogen Storage Disease Ib
Hepatocellular carcinoma, Hyperuricemia, Enlarged kidney, Pancreatitis, Hepatomegaly, Hyperlipide... OMIM:232220
Cerebrotendinous Xanthomatosis
Optic neuropathy, Abnormal motor evoked potentials, Decreased nerve conduction velocity, Prolonge... ORPHA:909
Cryohydrocytosis
Stomatocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia OMIM:185020
Sickle Cell Disease
Jaundice, Leukocytosis, Target cells, Hemolytic anemia, Splenic infarction, Hepatomegaly, Choleli... OMIM:603903
Alagille Syndrome 1
Hepatocellular carcinoma, Low-set ears, Cholestasis, Prolonged neonatal jaundice, Cirrhosis, Hype... OMIM:118450
Renal-Hepatic-Pancreatic Dysplasia 1
Biliary cirrhosis, Asplenia, Enlarged kidney, Cholestasis, Bile duct proliferation, Hepatic fibro... OMIM:208540
Lmna-Related Cardiocutaneous Progeria Syndrome
Abnormal intrahepatic bile duct morphology, Hypertriglyceridemia, Hypercholesterolemia ORPHA:363618
Elliptocytosis 1
Jaundice, Elliptocytosis, Splenomegaly, Hemolytic anemia OMIM:611804
Wiedemann-Rautenstrauch Syndrome
Hypoplasia of the thymus, Low-set ears, Cryptorchidism, Posteriorly rotated ears, Hypertriglyceri... OMIM:264090
Primary Triglyceride Deposit Cardiomyovasculopathy
Vacuolated lymphocytes, Pancreatitis, Hepatomegaly, Elevated circulating creatine kinase concentr... ORPHA:565612
Mandibuloacral Dysplasia Progeroid Syndrome
Left ventricular hypertrophy, Hepatomegaly, Hypertriglyceridemia, Elevated hemoglobin A1c, Macrov... OMIM:619127
Aromatase Deficiency
Cryptorchidism, Hypergonadotropic hypogonadism, Hyperlipidemia, Hepatic steatosis, Female pseudoh... ORPHA:91
Woodhouse-Sakati Syndrome
Decreased testicular size, Micropenis, Protruding ear, Hypoplasia of the fallopian tube, Hypoplas... OMIM:241080
Nephrotic Syndrome, Type 1
Hyperlipidemia, Hypoproteinemia, Hypoalbuminemia OMIM:256300
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hyperammonemia, Decreased plasma free carnitine, Elevated circulating acylcarnitine concentration... ORPHA:228308
Lipodystrophy, Familial Partial, Type 7
Low-set ears, Tinnitus, Recurrent pancreatitis, Hypertriglyceridemia, Orthostatic hypotension, Hy... OMIM:606721
Atypical Werner Syndrome
Hypogonadism, Hypertriglyceridemia, Hepatic steatosis, Ovarian neoplasm, Abnormal testis morphology ORPHA:79474
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Hyperaldosteronism, Increased circulating cortisol level, Hyperlipidemia, Macronodular adrenal hy... ORPHA:189427
Wiedemann-Rautenstrauch Syndrome
Wide penis, Low-set ears, Cryptorchidism, Increased circulating prolactin concentration, Posterio... ORPHA:3455
Carnitine Palmitoyltransferase Ii Deficiency
Decreased plasma free carnitine, Elevated circulating acylcarnitine concentration, Hepatomegaly, ... ORPHA:157
Obsolete: Primary Pigmented Nodular Adrenocortical Disease
Adrenal hyperplasia, Increased circulating cortisol level, Hyperlipidemia, Paradoxical increased ... ORPHA:189439
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Reticulocytosis, Microangiopathic hemolytic anemia, Increased blood urea nitrogen, Hyperlipidemia... OMIM:235400
Congenital Analbuminemia
Hypoproteinemia, Hyperlipidemia, Increased alpha-globulin, Hypercholesterolemia, Hypoalbuminemia ORPHA:86816
Alström Syndrome
Hepatomegaly, Elevated circulating thyroid-stimulating hormone concentration, Hepatosplenomegaly,... ORPHA:64
Glycogen Storage Disease Ia
Hepatocellular carcinoma, Hyperuricemia, Enlarged kidney, Pancreatitis, Hepatomegaly, Hyperlipide... OMIM:232200
Woodhouse-Sakati Syndrome
Decreased testicular size, Micropenis, Protruding ear, Hypogonadism, Bilateral sensorineural hear... ORPHA:3464
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Hydrocele testis, Hyperlipidemia, Hypoalbuminemia, Ascites ORPHA:567546
Mandibuloacral Dysplasia With Type A Lipodystrophy
Hyperlipidemia, Breast aplasia, Hearing impairment ORPHA:90153
Glycogen Storage Disease Ic
Chronic pancreatitis, Hepatocellular carcinoma, Hyperuricemia, Hepatomegaly, Hepatoblastoma, Hype... OMIM:232240
Homozygous Familial Hypercholesterolemia
Increased LDL cholesterol concentration, Optic neuropathy, Hyperlipidemia, Hepatic steatosis, Hyp... 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
Skeletal muscle - MPATH pathological process term dystrophy Col9a3em1(IMPC)Tcp HOM Early adult
Bone - MPATH pathological process term developmental dysplasia Col9a3em1(IMPC)Tcp HOM Early adult
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
Tibia - 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
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
Col9a3em1(IMPC)Tcp Exon Deletion Mice
Col9a3tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter