Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
urate (5-hydroxyiso-) hydrolase
Synonyms:
HIU hydrolase,  2810420C16Rik,  1190003J15Rik

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

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.

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.

Phenotype associated images not available

Human diseases caused by Urah 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.

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

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Immunodeficiency 69
Pancytopenia, Increased circulating ferritin concentration, Leukocytosis, Hepatosplenomegaly, Thr... OMIM:618963
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Eosinophilia, Monocytosis, Thrombocytosis, Congenital agranulocytosis, Neutropenia, Anemia, Incre... OMIM:202700
Burkitt Lymphoma
Increased circulating lactate dehydrogenase concentration, Abnormality of the liver, Abnormality ... ORPHA:543
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Increased circulating lactate dehydrogenase concentration, Leukopenia, Bone marrow hypocellularit... ORPHA:86841
Wiskott-Aldrich Syndrome 2
Defective T cell proliferation, Thrombocytopenia, Reduced natural killer cell activity, Decreased... OMIM:614493
Acquired Idiopathic Sideroblastic Anemia
Pancytopenia, Hypochromic anemia, Leukocytosis, Granulocytopenia, Normocytic anemia, Bone marrow ... ORPHA:75564
Immunodeficiency 24
Decreased circulating IgG level, Reduced antigen-specific T cell proliferation, Reduced proportio... OMIM:615897
Glycogen Storage Disease Vii
Cholelithiasis, Jaundice, Hyperuricemia, Reduced erythrocyte 2,3-diphosphoglycerate concentration... OMIM:232800
Sickle Cell Anemia
Microcytic anemia, Hypochromic anemia, Reticulocytosis, Increased circulating lactate dehydrogena... ORPHA:232
Immunodeficiency 14B, Autosomal Recessive
Decreased circulating total IgM, Decreased circulating IgG level, Leukocytosis, Monocytosis, Redu... OMIM:619281
Thrombocythemia 1
Impaired ADP-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation, Thr... OMIM:187950
Glycine N-Methyltransferase Deficiency
Hepatomegaly, Hypermethioninemia, Elevated hepatic transaminase OMIM:606664
Immunodeficiency 18
Decreased proportion of CD3-positive T cells, Lymphopenia, Defective T cell proliferation OMIM:615615
Immunodeficiency 27A
Hepatosplenomegaly, Leukocytosis, Histiocytosis, Increased circulating IgG level, Thrombocytosis,... OMIM:209950
Immunodeficiency 92
Decreased circulating IgG level, Sclerosing cholangitis, Leukocytosis, Cholangitis, Thrombocytosi... OMIM:619652
Heme Oxygenase 1 Deficiency
Increased circulating ferritin concentration, Increased circulating lactate dehydrogenase concent... OMIM:614034
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Pancytopenia, Microcytic anemia, Sterile abscess, Hepatosplenomegaly, Thrombocytosis, Elevated ci... OMIM:604416
Combined Immunodeficiency, X-Linked
Decreased circulating IgG level, Decreased proportion of CD4-positive helper T cells, Decreased p... OMIM:312863
Thrombocythemia 3
Thrombocytosis OMIM:614521
Thrombocythemia 2
Thrombocytosis OMIM:601977
Chronic Myeloid Leukemia
Leukocytosis, Thrombocytosis, Myeloproliferative disorder, Splenomegaly, Thrombocytopenia, Abnorm... ORPHA:521
Immunodeficiency 15A
Cutaneous abscess, Decreased proportion of memory B cells, Decreased proportion of CD4-positive h... OMIM:618204
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Pancytopenia, Thrombocytosis, Megaloblastic anemia, Decreased circulating antibody level, Macrocy... OMIM:617780
Primary Myelofibrosis
Pancytopenia, Increased circulating lactate dehydrogenase concentration, Hepatosplenomegaly, Leuk... ORPHA:824
Juvenile Arthritis
Thrombocytosis, Leukocytosis OMIM:618795
Polycythemia Vera
Leukocytosis, Increased hemoglobin, Increased hematocrit, Thrombocytosis, Splenomegaly, Increased... OMIM:263300
Immunodeficiency 21
Neutropenia, Abnormal natural killer cell morphology, Myelodysplasia, Myeloid leukemia, Aplastic ... OMIM:614172
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Eosinophilia, T lymphocytopenia, Decreased proportion of CD3-positive T cells, Hepatosplenomegaly... ORPHA:169154
Asplenia, Isolated Congenital
Thrombocytosis, Howell-Jolly bodies, Asplenia OMIM:271400
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency
Anemia, Hyperuricemia ORPHA:371
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Splenomegaly, Cutaneous anergy, Decreased helper T cell proportion, Hypersplenism OMIM:183350
Lesch-Nyhan Syndrome
Anemia, Hyperuricemia ORPHA:510
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Pancytopenia, Increased circulating lactate dehydrogenase concentration, Hepatic failure, Colon c... ORPHA:158057
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Reduced antigen-specific T cell proliferation, Increased circulating IgM level, Decreased proport... OMIM:617241
Adenosine deaminase, elevated, hemolytic anemia due to
Hyperuricemia, Elevated red cell adenosine deaminase level, Hemolytic anemia, Anisopoikilocytosis... OMIM:102730
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Eosinophilia, Decreased circulating IgG level, Reduced antigen-specific T cell proliferation, Dec... ORPHA:331206
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Leukopenia, Splenomegaly, Hepatomegaly, Neutropenia, Anemia, Increased circulating antibody level... OMIM:615285
Immunodeficiency 17
Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells OMIM:615607
Interstitial Lung And Liver Disease
Hepatic steatosis, Hepatic failure, Elevated circulating alanine aminotransferase concentration, ... OMIM:615486
Macrophage Activation Syndrome
Increased circulating ferritin concentration, Increased circulating lactate dehydrogenase concent... ORPHA:158061
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Decreased plasma carnitine, Hepatomegaly, Hyperuricemia, Anemia, Hyperammonemia OMIM:246450
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Neutropenia, Anemia, Hyperuricemia OMIM:617056
Congenital Disorder Of Glycosylation, Type Iir
Hepatic steatosis, Ascites, Decreased liver function, Hepatomegaly, Jaundice, Decreased circulati... OMIM:301045
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Anemia, Hyperuricemia OMIM:613092
Persistent Polyclonal B-Cell Lymphocytosis
Decreased circulating total IgM, Lymphocytosis, Splenomegaly, Hepatomegaly OMIM:606445
Hypertriglyceridemia, Transient Infantile
Hepatic steatosis, Splenomegaly, Hepatomegaly, Elevated hepatic transaminase, Hypertriglyceridemi... OMIM:614480
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hypoproteinemia, Thrombocytosis, Hepatomegaly, Decreased circulating antibody level, Iron deficie... OMIM:226300
Purine Nucleoside Phosphorylase Deficiency
Lymphoma, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Splenomegaly, Increased circu... OMIM:613179
Hyperbilirubinemia, Shunt, Primary
Splenomegaly, Hepatomegaly, Jaundice, Hyperbilirubinemia, Erythroid hyperplasia, Reticulocytosis,... OMIM:237800
Lymphoproliferative Syndrome 3
Hepatosplenomegaly, Decreased circulating antibody level, Lymphoproliferative disorder, Hodgkin l... OMIM:618261
Erythroleukemia, Familial, Susceptibility To
Leukemia, Acute myeloid leukemia, Splenomegaly, Hepatomegaly, Anemia, Erythroid hyperplasia, Refr... OMIM:133180
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Leukopenia, Hyponatremia, Hyperuricemia, Anemia, Hypomagnesemia, Thrombocytopenia OMIM:613845
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased T cell activation, Lymphoma, Autoimmune thrombocytopenia, Decreased CD4:CD8 ratio, Decr... OMIM:300853
Bile Acid Synthesis Defect, Congenital, 5
Hepatic failure, Portal hypertension, Increased serum bile acid concentration, Splenomegaly, Hepa... OMIM:616278
Ras-Associated Autoimmune Leukoproliferative Disorder
Pancytopenia, Monocytosis, Leukemia, Lymphoma, Autoimmune thrombocytopenia, Splenomegaly, Hepatom... OMIM:614470
3-Hydroxy-3-Methylglutaric Aciduria
Acute pancreatitis, Leukopenia, Leukocytosis, Thrombocytosis, Lipid accumulation in hepatocytes, ... ORPHA:20
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... OMIM:611926
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Leukocytosis, Agammaglobulinemia, Thrombocytosis, Interface hepatitis, Autoimmune hemolytic anemi... OMIM:243150
Preeclampsia/Eclampsia 1
Thrombocytopenia, Elevated hepatic transaminase OMIM:189800
Beta-Ketothiolase Deficiency
Leukocytosis, Thrombocytosis, Hepatomegaly, Hyperuricemia, Hyperammonemia ORPHA:134
Hemochromatosis, Type 2B
Increased circulating ferritin concentration, Splenomegaly, Elevated transferrin saturation, Hepa... OMIM:613313
Pparg-Related Familial Partial Lipodystrophy
Hepatic steatosis, Splenomegaly, Hepatomegaly, Hyperuricemia, Hypertriglyceridemia, Pancreatitis,... ORPHA:79083
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Anemia, Splenomegaly, Hepatomegaly ORPHA:46532
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Increased circulating ferritin concentration, Hepatosplenomegaly, Cirrhosis, Anisocytosis, Spleno... OMIM:616860
Glycogen Storage Disease Ib
Enlarged kidney, Hyperlipidemia, Hepatomegaly, Hyperuricemia, Neutropenia, Elevated hepatic trans... OMIM:232220
Hemoglobin H Disease
Splenomegaly, Hepatomegaly, HbH hemoglobin, Hemolytic anemia, Reduced alpha/beta synthesis ratio OMIM:613978
Lymphoproliferative Syndrome, X-Linked, 1
Pancytopenia, Decreased circulating IgG level, Hepatic failure, Reduced natural killer cell activ... OMIM:308240
Lipodystrophy, Familial Partial, Type 3
Hepatic steatosis, Hyperuricemia, Hypertriglyceridemia, Cirrhosis, Decreased HDL cholesterol conc... OMIM:604367
Cd8 Deficiency, Familial
Absence of CD8-positive T cells OMIM:608957
Congenital Disorder Of Glycosylation, Type Iio
Hepatic failure, Hepatosplenomegaly, Hypercholesterolemia, Elevated alkaline phosphatase of bone ... OMIM:616828
Glycogen Storage Disease Vi
Hyperlipidemia, Hypercholesterolemia, Increased hepatic glycogen content, Hepatomegaly, Elevated ... OMIM:232700
Lymphoproliferative Syndrome 1
Pancytopenia, Increased circulating ferritin concentration, Decreased circulating IgG level, Leuk... OMIM:613011
Cholestasis-Lymphedema Syndrome
Hyperlipidemia, Splenomegaly, Hepatomegaly, Jaundice, Conjugated hyperbilirubinemia, Elevated hep... OMIM:214900
Reticular Dysgenesis
Leukopenia, Lack of T cell function, Congenital agranulocytosis, Impaired T cell function, Hypopl... OMIM:267500
Purine Nucleoside Phosphorylase Deficiency
Decreased proportion of CD3-positive T cells, Autoimmune thrombocytopenia, Autoimmune hemolytic a... ORPHA:760
Glomerulocystic kidney disease with hyperuricemia and isosthenuria
Hyperuricemia OMIM:609886
Congenital Disorder Of Glycosylation, Type Ia
Decreased circulating IgG level, Hepatic steatosis, Thrombocytosis, Decreased circulating IgA lev... OMIM:212065
Cyanosis, Transient Neonatal
Hepatomegaly, Jaundice, Anemia, Reticulocytosis, Methemoglobinemia OMIM:613977
Fructose-1,6-Bisphosphatase Deficiency
Hepatic steatosis, Hepatomegaly, Hyperuricemia, Abnormal enzyme/coenzyme activity, Elevated hepat... ORPHA:348
Protoporphyria, Erythropoietic, X-Linked
Cholelithiasis, Iron deficiency anemia, Elevated hepatic transaminase, Increased erythrocyte prot... OMIM:300752
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Elevated circulating gamma-aminobutyric acid concentration, Elevated circulating alanine aminotra... OMIM:619658
Lactic Acidosis, Chronic Adult Form
Hyperuricemia OMIM:150170
Hepatocellular Carcinoma
Polycythemia, Hypokalemia, Hyponatremia, Portal hypertension, Hypercalcemia, Abnormality of the l... ORPHA:88673
Glycogen Storage Disease Ixa1
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypercholesterolemia OMIM:306000
Neuroleptic Malignant Syndrome
Increased circulating lactate dehydrogenase concentration, Leukocytosis, Hyponatremia, Thrombocyt... ORPHA:94093
Combined Immunodeficiency Due To Zap70 Deficiency
Eosinophilia, Hepatosplenomegaly, Lymphoma, Autoimmune thrombocytopenia, Autoimmune hemolytic ane... ORPHA:911
Sting-Associated Vasculopathy, Infantile-Onset
Leukopenia, Increased circulating IgG level, Thrombocytosis, Increased circulating IgA level, Ele... OMIM:615934
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Pancytopenia, Leukopenia, Hepatosplenomegaly, Leukocytosis, Portal hypertension, Thrombocytosis, ... OMIM:615688
Lesch-Nyhan Phenotype With Normal Hgprt
Hyperuricemia OMIM:308950
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hyperlipidemia, Hyperuricemia ORPHA:364
Immunodeficiency 64
Decreased circulating IgG level, Hepatosplenomegaly, Increased circulating IgG level, Abnormal CD... OMIM:618534
Lysosomal Acid Lipase Deficiency
Low alkaline phosphatase, Increased circulating lactate dehydrogenase concentration, Hepatic fail... OMIM:278000
Severe Combined Immunodeficiency, X-Linked
Decreased circulating IgG level, T lymphocytopenia, Decreased circulating total IgM, Decreased ci... OMIM:300400
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Pancytopenia, T lymphocytopenia, Decreased proportion of memory B cells, Hepatosplenomegaly, Port... ORPHA:79124
Hemophagocytic Lymphohistiocytosis, Familial, 4
Increased circulating ferritin concentration, Hemophagocytosis, Splenomegaly, Hepatomegaly, Jaund... OMIM:603552
Beta-Thalassemia, Dominant Inclusion Body Type
Microcytic anemia, Erythrocyte inclusion bodies, Decreased mean corpuscular hemoglobin concentrat... OMIM:603902
Autoimmune Lymphoproliferative Syndrome
Eosinophilia, Decreased lymphocyte apoptosis, Increased circulating IgG level, Increased circulat... OMIM:601859
Congenital Disorder Of Glycosylation, Type Iip
Hepatic steatosis, Hypercholesterolemia, Decreased liver function, Decreased circulating cerulopl... OMIM:616829
Syndromic Diarrhea
Hepatoblastoma, Abnormality of the liver, Cirrhosis, Thrombocytosis, Splenomegaly, Hepatomegaly, ... ORPHA:84064
Hemophagocytic Syndrome Associated With An Infection
Pancytopenia, Increased circulating ferritin concentration, Hemophagocytosis, Splenomegaly, Abnor... ORPHA:158048
Alstrom Syndrome
Hepatic steatosis, Hepatomegaly, Hyperuricemia, Elevated hepatic transaminase, Hypertriglyceridem... OMIM:203800
Hemochromatosis, Type 3
Increased circulating ferritin concentration, Elevated transferrin saturation, Increased serum ir... OMIM:604250
Chédiak-Higashi Syndrome
Pancytopenia, Increased circulating lactate dehydrogenase concentration, Abnormal leukocyte morph... ORPHA:167
Hereditary Fructose Intolerance
Reduced aldolase level, Hepatomegaly, Jaundice, Hyperuricemia, Chronic hepatic failure, Hypermagn... ORPHA:469
Leishmaniasis
Pancytopenia, Abnormal macrophage morphology, Leukopenia, Splenomegaly, Hepatomegaly, Increased c... ORPHA:507
Glycogen Storage Disease Ia
Enlarged kidney, Hyperlipidemia, Hepatomegaly, Hyperuricemia, Elevated hepatic transaminase, Panc... OMIM:232200
Trichohepatoenteric Syndrome 1
Hepatic failure, Abnormality of the pancreas, Cholestasis, Thrombocytosis, Hypermethioninemia, He... OMIM:222470
Portal Hypertension, Noncirrhotic, 2
Portal hypertension, Elevated gamma-glutamyltransferase level, Splenomegaly, Hepatomegaly, Nodula... OMIM:619463
Late-Onset Isolated Acth Deficiency
Eosinophilia, Hyponatremia, Normocytic anemia, Hypercalcemia, Hyperuricemia, Hepatitis, Pituitary... ORPHA:199299
Phosphoribosylpyrophosphate Synthetase Superactivity
Hyperuricemia ORPHA:3222
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome
Increased circulating ferritin concentration, Portal hypertension, Hepatosplenomegaly, Bone marro... ORPHA:210136
Portal Hypertension, Noncirrhotic, 1
Elevated hepatic transaminase, Portal hypertension, Splenomegaly, Hepatomegaly OMIM:617068
Phosphoribosylpyrophosphate Synthetase Superactivity
Hyperuricemia, Increased phosphoribosylpyrophosphate synthetase level, Hyperuricosuria OMIM:300661
Celiac Disease, Susceptibility To, 1
Thrombocytosis, Lymphoma, Hypocalcemia, Decreased circulating IgA level, Iron deficiency anemia, ... OMIM:212750
Congenital Bile Acid Synthesis Defect Type 1
Splenomegaly, Hepatomegaly, Jaundice, Biliary tract abnormality, Elevated hepatic transaminase, C... ORPHA:79301
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased circulating IgG level, Decreased proportion of CD3-positive T cells, Increased circulat... ORPHA:276
Gaisböck Syndrome
Increased hematocrit, Increased circulating renin level, Hypercholesterolemia, Cholecystitis, Inc... ORPHA:90041
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hepatic steatosis, Enlarged kidney, Hyperlipidemia, Hypercholesterolemia, Chronic neutropenia, In... ORPHA:79259
Anemia, Congenital Dyserythropoietic, Type Ib
Splenomegaly, Anisocytosis, Jaundice, Hepatomegaly, Anemia, Erythroid hyperplasia, Reticulocytosi... OMIM:615631
Mild Phosphoribosylpyrophosphate Synthetase Superactivity
Hyperuricemia, Increased phosphoribosylpyrophosphate synthetase level, Hyperuricosuria ORPHA:411536
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular hemoglobin concentration, Splenomegaly, Acanthocytosis, Hepatomegaly, ... OMIM:616689
Immunodeficiency, Common Variable, 1
Decreased circulating IgG level, Decreased circulating total IgM, Splenomegaly, Hepatomegaly, Imp... OMIM:607594
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
Decreased helper T cell proportion, T lymphocytopenia OMIM:601705
Poems Syndrome
Polycythemia, Thrombocytosis, Visceromegaly, Hemangioma, Increased circulating antibody level, Ly... ORPHA:2905
X-Linked Sideroblastic Anemia
Anemia, Splenomegaly, Elevated hepatic transaminase, Abnormality of iron homeostasis ORPHA:75563
Juvenile Paget Disease
Hyperuricemia ORPHA:2801
Familial Thrombocytosis
Thrombocytosis, Acute myeloid leukemia, Splenomegaly, Myelodysplasia, Chronic myelogenous leukemia ORPHA:71493
Lesch-Nyhan Syndrome
Megaloblastic anemia, Hyperuricemia, Hyperuricosuria OMIM:300322
Morgagni-Stewart-Morel Syndrome
Hypercholesterolemia, Hyperuricemia ORPHA:77296
Bile Acid Synthesis Defect, Congenital, 2
Hepatic failure, Splenomegaly, Hepatomegaly, Jaundice, Intrahepatic cholestasis, Hyperbilirubinem... OMIM:235555
Fructose Intolerance, Hereditary
Hepatic steatosis, Bicarbonaturia, Hyperuricosuria, Hepatomegaly, Jaundice, Hyperuricemia, Hyperb... OMIM:229600
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Microvesicular hepatic steatosis, Hepatic failure, Cholestasis, Jaundice, Elevated hepatic transa... OMIM:617156
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1
Hyperuricemia OMIM:162000
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hepatomegaly, Hypouricemia, Elevated hepatic transaminase, Hypophosphatemia, Elevated circulating... OMIM:616026
Hepatoportal Sclerosis
Intrahepatic portal vein sclerosis, Leukopenia, Portal hypertension, Periportal fibrosis, Splenom... ORPHA:64743
Bile Acid Synthesis Defect, Congenital, 3
Hepatic failure, Splenomegaly, Hepatomegaly, Jaundice, Intrahepatic cholestasis, Hepatitis, Eleva... OMIM:613812
Immunodeficiency With Hyper-Igm, Type 1
Decreased T cell activation, Decreased circulating IgG level, Sclerosing cholangitis, Decreased c... OMIM:308230
X-Linked Lymphoproliferative Disease
Pancytopenia, Decreased circulating IgG level, Hepatic failure, Histiocytosis, Absent natural kil... ORPHA:2442
Distal 16P11.2 Microdeletion Syndrome
Hyperuricemia ORPHA:261222
Wiskott-Aldrich Syndrome
Eosinophilia, Decreased circulating total IgM, Increased circulating IgA level, Autoimmune hemoly... OMIM:301000
Hyperuricemia, Infantile, With Abnormal Behavior And Normal Hypoxanthine Guanine Phosphoribosyltransferase
Hyperuricemia OMIM:240000
Autoinflammation With Infantile Enterocolitis
Pancytopenia, Increased circulating ferritin concentration, Reduced natural killer cell activity,... OMIM:616050
Aicardi-Goutieres Syndrome 4
Pancytopenia, Hepatosplenomegaly, Splenomegaly, Hepatomegaly, Elevated hepatic transaminase, Thro... OMIM:610333
Liver Failure, Infantile, Transient
Microvesicular hepatic steatosis, Hepatomegaly, Jaundice, Acute hepatic failure, Hyperbilirubinem... OMIM:613070
Congenital Toxoplasmosis
Hepatomegaly, Jaundice, Anemia, Elevated hepatic transaminase, Ascites, Cardiomegaly, Thrombocyto... ORPHA:858
Immunodeficiency By Defective Expression Of Mhc Class Ii
Pancytopenia, T lymphocytopenia, Sclerosing cholangitis, Abnormal CD4:CD8 ratio, Decreased circul... ORPHA:572
Overhydrated Hereditary Stomatocytosis
Splenomegaly, Hepatomegaly, Jaundice, Hyperbilirubinemia, Hemolytic anemia, Stomatocytosis, Retic... OMIM:185000
Congenital Bile Acid Synthesis Defect Type 2
Hepatic steatosis, Hepatic failure, Increased circulating lactate dehydrogenase concentration, Ch... ORPHA:79303
Blackfan-Diamond Anemia
Malignant genitourinary tract tumor, Leukopenia, Thrombocytosis, Erythroid hypoplasia, Acute myel... ORPHA:124
Hypermanganesemia With Dystonia 1
Decreased liver function, Hepatomegaly, Hypermanganesemia, Increased total iron binding capacity,... OMIM:613280
Immunodeficiency 70
Decreased circulating total IgM, Decreased circulating total IgG, Decreased proportion of CD4-pos... OMIM:618969
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Hypochromic anemia, Decreased T cell activation, Leukocytosis, Increased circulating IgG level, T... OMIM:618213
Severe Phosphoribosylpyrophosphate Synthetase Superactivity
Hyperuricemia, Increased phosphoribosylpyrophosphate synthetase level, Hyperuricosuria ORPHA:411543
Autoimmune Lymphoproliferative Syndrome, Type Iia
Eosinophilia, Decreased lymphocyte apoptosis, Increased circulating IgG level, Increased circulat... OMIM:603909
Hyperuricemia, Hprt-Related
Hyperuricemia, Hyperuricosuria OMIM:300323
Harderoporphyria
Increased circulating ferritin concentration, Splenomegaly, Hepatomegaly, Prolonged neonatal jaun... OMIM:618892
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatic steatosis, Hepatic failure, Portal hypertension, Periportal fibrosis, Splenomegaly, Hepat... OMIM:251880
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Hepatic failure, Cholestasis, Hepatomegaly, Jaundice, Elevated hepatic transaminase, Increased to... OMIM:618528
Brucellosis
Abnormality of the liver, Leukopenia, Leukocytosis, Increased circulating IgG level, Lung abscess... ORPHA:1304
Immunodeficiency 81
Reduced antigen-specific T cell proliferation, Impaired neutrophil chemotaxis, Reduced natural ki... OMIM:619374
Bile Acid Conjugation Defect 1
Elevated circulating alanine aminotransferase concentration, Hepatic failure, Elevated circulatin... OMIM:619232
Infantile Liver Failure Syndrome 1
Hepatic steatosis, Hepatomegaly, Acute hepatic failure, Anemia, Elevated hepatic transaminase, Ma... OMIM:615438
Biliary Atresia, Extrahepatic
Bile duct proliferation, Atretic gallbladder, Hepatomegaly, Jaundice, Hyperbilirubinemia, Elevate... OMIM:210500
Hepatic Veno-Occlusive Disease
Hepatomegaly, Jaundice, Elevated hepatic transaminase, Increased total bilirubin, Ascites ORPHA:890
Sclerosing Cholangitis, Neonatal
Biliary cirrhosis, Sclerosing cholangitis, Portal hypertension, Cholestasis, Splenomegaly, Hepato... OMIM:617394
Glycogen Storage Disease Ic
Hepatoblastoma, Hyperlipidemia, Hepatomegaly, Hyperuricemia, Chronic pancreatitis, Hepatocellular... OMIM:232240
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Aplasia/Hypoplasia of the pancreas, Abnormality of endocrine pancreas physiology, Hepatic steatos... ORPHA:93111
Selective Igm Deficiency
Decreased circulating total IgM, Non-Hodgkin lymphoma, Decreased proportion of CD3-positive T cel... ORPHA:331235
Cholestasis, Progressive Familial Intrahepatic, 3
Bile duct proliferation, Splenomegaly, Hepatomegaly, Jaundice, Intrahepatic cholestasis, Portal f... OMIM:602347
Idiopathic Hypereosinophilic Syndrome
Eosinophilia, Hepatosplenomegaly, Leukocytosis, Cholangitis, Thrombocytosis, Chronic hepatitis, M... ORPHA:3260
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Anemia, Elevated circulating creatinine concentration, Hyperuricemia OMIM:174000
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Elevated circulating creatinine concentration, Hyperuricemia ORPHA:79233
Bile Acid Synthesis Defect, Congenital, 1
Hepatic failure, Splenomegaly, Hepatomegaly, Jaundice, Intrahepatic cholestasis, Giant cell hepat... OMIM:607765
Paget Disease Of Bone 5, Juvenile-Onset
Hydroxyprolinemia, Hyperphosphatemia, Elevated circulating alkaline phosphatase concentration, Hy... OMIM:239000
Immunodeficiency 47
Exocrine pancreatic insufficiency, Accessory spleen, Cholestasis, Decreased circulating total IgG... OMIM:300972
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Increased circulating lactate dehydrogenase concentration, Cholestasis, Elevated gamma-glutamyltr... ORPHA:247598
Immunodeficiency 68
T lymphocytopenia, B lymphocytopenia, Abnormal natural killer cell count, Abscess OMIM:612260
Immunodeficiency 85 And Autoimmunity
Decreased circulating IgG level, T lymphocytopenia, Decreased proportion of memory B cells, Decre... OMIM:619510
Congenital Bile Acid Synthesis Defect Type 3
Elevated circulating alanine aminotransferase concentration, Hepatic failure, Hepatosplenomegaly,... ORPHA:79302
Progressive Multifocal Leukoencephalopathy
Abnormal proportion of CD4-positive T cells, Hematological neoplasm, Decreased proportion of CD8-... ORPHA:217260
Autoerythrocyte Sensitization Syndrome
Thrombocytosis, Autoimmune thrombocytopenia, Impaired platelet adhesion, Abnormal erythrocyte mor... ORPHA:324636
Cholestasis, Progressive Familial Intrahepatic, 8
Elevated alpha-fetoprotein, Sclerosing cholangitis, Portal hypertension, Increased serum bile aci... OMIM:619662
Infantile Liver Failure Syndrome 3
Hepatic steatosis, Cholestasis, Hepatic bridging fibrosis, Splenomegaly, Hepatomegaly, Jaundice, ... OMIM:618641
Bile Acid Synthesis Defect, Congenital, 4
Hepatic failure, Hepatomegaly, Intrahepatic cholestasis, Giant cell hepatitis, Prolonged neonatal... OMIM:214950
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Decreased circulating IgG level, T lymphocytopenia, Decreased circulating total IgM, Hypereosinop... ORPHA:508533
Parenteral Nutrition-Associated Cholestasis
Cholelithiasis, Hepatic steatosis, Hepatic failure, Hyperlipidemia, Portal hypertension, Elevated... ORPHA:567983
Relapsing Fever
Increased circulating lactate dehydrogenase concentration, Leukopenia, Leukocytosis, Elevated cir... ORPHA:91547
Combined Deficiency Of Factor V And Factor Viii
Hyperlipidemia, Hyperuricemia ORPHA:35909
Immunodeficiency 20
Reduced natural killer cell activity, Reduced natural killer cell count OMIM:615707
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Cholelithiasis, Increased circulating ferritin concentration, Exercise-induced hemolysis, Increas... OMIM:194380
Autoimmune Lymphoproliferative Syndrome
Decreased circulating IgG level, Autoimmune hemolytic anemia, Decreased proportion of CD4-positiv... ORPHA:3261
Acute Adrenal Insufficiency
Hyponatremia, Normocytic anemia, Hypercalcemia, Increased circulating renin level, Hyperkalemia, ... ORPHA:95409
Immunodeficiency 57 With Autoinflammation
T lymphocytopenia, Decreased circulating antibody level, B lymphocytopenia, Perianal abscess, Par... OMIM:618108
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating ferritin concentration, Reduced natural killer cell activity, Hemophagocyto... ORPHA:540
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Elevated circulating suberic acid concentration, Elevated circulating fumarate concentration, Inc... OMIM:615160
Wilson Disease
Hepatic steatosis, Cirrhosis, Splenomegaly, Hepatomegaly, Jaundice, Acute hepatic failure, Anemia... ORPHA:905
Molybdenum Cofactor Deficiency, Complementation Group C
Hypocystinemia, Hypouricemia, Sulfite oxidase deficiency, Hypertaurinemia, Molybdenum cofactor de... OMIM:615501
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Hypoplastic spleen, Increased circulating ferritin concentration, T lymphocytopenia, Impaired lym... OMIM:619313
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Increased circulating lactate dehydrogenase concentration, Hepatomegaly, Elevated circulating cre... OMIM:600649
Hepatitis, Fulminant Viral, Susceptibility To
Hepatic failure, Hepatomegaly, Jaundice, Elevated hepatic transaminase, Fulminant hepatitis OMIM:618549
Renal Cysts And Diabetes Syndrome
Exocrine pancreatic insufficiency, Elevated circulating creatinine concentration, Pancreatic hypo... OMIM:137920
Cystinuria
Hyperuricemia ORPHA:214
Anemia, Congenital Dyserythropoietic, Type Iv
Schistocytosis, Reticulocytosis, Circulating nucleated red blood cells, Hepatosplenomegaly, Poiki... OMIM:613673
Cholestasis, Intrahepatic, Of Pregnancy, 1
Abnormal liver function tests during pregnancy, Increased serum bile acid concentration during pr... OMIM:147480
Hemophagocytic Lymphohistiocytosis, Familial, 2
Pancytopenia, Increased circulating ferritin concentration, Hypoproteinemia, Leukopenia, Hepatosp... OMIM:603553
Glycogen Storage Disease Ixc
Bile duct proliferation, Increased hepatic glycogen content, Splenomegaly, Hepatomegaly, Elevated... OMIM:613027
Addison Disease
Hyponatremia, Normocytic anemia, Hypercalcemia, Increased circulating renin level, Hyperkalemia, ... ORPHA:85138
Hereditary Xanthinuria
Hypouricemia, Aldehyde oxidase deficiency, Sulfite oxidase deficiency, Reduced xanthine dehydroge... ORPHA:3467
Diamond-Blackfan Anemia 1
Congenital hypoplastic anemia, Colon cancer, Thrombocytosis, Osteosarcoma, Elevated red cell aden... OMIM:105650
Caroli Syndrome
Hepatic failure, Cholangitis, Intrahepatic cholestasis, Hyperbilirubinemia, Pancreatitis, Liver a... ORPHA:480520
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Increased circulating ferritin concentration, Hepatosplenomegaly, Increased serum iron, Anemia, E... ORPHA:300298
Refractory Celiac Disease
Microcytic anemia, Hypoproteinemia, Normocytic anemia, Lymphoma, Hypocalcemia, Elevated alkaline ... ORPHA:398063
Cystic Echinococcosis
Eosinophilia, Abnormality of the pancreas, Biliary tract obstruction, Elevated gamma-glutamyltran... ORPHA:400
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Eosinophilia, Decreased circulating total IgM, Squamous cell carcinoma, Increased circulating IgG... OMIM:243700
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Abnormality of the pancreas, Neutrophilia, Elevated circulating C-reactive protein concentration,... ORPHA:54251
Lethal Ataxia With Deafness And Optic Atrophy
Abnormal erythrocyte enzyme level, Hypouricemia ORPHA:1187
Neutropenia, Severe Congenital, 8, Autosomal Dominant
Neutropenia, Exocrine pancreatic insufficiency, Elevated hepatic transaminase OMIM:618752
Adult-Onset Still Disease
Leukocytosis, Bone marrow hypocellularity, Abnormal circulating lipid concentration, Neutrophilia... ORPHA:829
Myh9-Related Disease
Giant platelets, Elevated hepatic transaminase, Neutrophil inclusion bodies, Congenital thrombocy... ORPHA:182050
Caroli Disease
Cholelithiasis, Biliary cirrhosis, Elevated circulating alanine aminotransferase concentration, L... ORPHA:53035
Congenital Dyserythropoietic Anemia Type Iii
Anisocytosis, Anemia, Increased mean corpuscular volume, Hyperbilirubinemia, Abnormal erythrocyte... ORPHA:98870
Immunodeficiency 13
T lymphocytopenia, Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive helper T cells, ... OMIM:615518
Proteasome-Associated Autoinflammatory Syndrome 3
Splenomegaly, Thrombocytopenia, Hepatomegaly, Increased circulating antibody level, Anemia, Eleva... OMIM:617591
Wolcott-Rallison Syndrome
Exocrine pancreatic insufficiency, Abnormality of the liver, Hyponatremia, Hepatomegaly, Jaundice... ORPHA:1667
Immunodeficiency 54
Lymphoproliferative disorder, Splenomegaly, Hepatomegaly, Reduced natural killer cell count OMIM:609981
Neonatal Lupus Erythematosus
Pancytopenia, Hepatic failure, Abnormality of the liver, Splenomegaly, Hepatomegaly, Neutropenia,... ORPHA:398124
Medullary cystic kidney disease 2
Hyperuricemia OMIM:603860
Cogan Syndrome
Thrombocytosis, Anemia, Leukocytosis ORPHA:1467
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant
Decreased circulating IgG level, Decreased circulating total IgM, Cutaneous abscess, Decreased ci... OMIM:619752
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Acute hepatic failure, Elevated hepatic transaminase, Hyperammonemia OMIM:615453
Cholestasis, Progressive Familial Intrahepatic, 6
Periportal fibrosis, Elevated gamma-glutamyltransferase level, Conjugated hyperbilirubinemia, Int... OMIM:619484
Hirsutism, Skeletal Dysplasia, And Mental Retardation
Hyperuricemia OMIM:142625
Budd-Chiari Syndrome
Portal hypertension, Cholecystitis, Peritonitis, Splenomegaly, Hepatomegaly, Jaundice, Acute hepa... ORPHA:131
Porphyria Cutanea Tarda
Increased circulating ferritin concentration, Viral hepatitis, Hepatic steatosis, Hematological n... ORPHA:101330
Eisenmenger Syndrome
Abnormality of the liver, Abnormal B-type natriuretic peptide level, Elevated circulating C-react... ORPHA:97214
Carnitine Palmitoyltransferase I Deficiency
Transient hyperlipidemia, Hepatic steatosis, Hepatomegaly, Elevated circulating creatine kinase c... OMIM:255120
Autoimmune Hepatitis
Viral hepatitis, Sclerosing cholangitis, Cirrhosis, Increased circulating IgG level, Ascites, Spl... ORPHA:2137
Low Phospholipid-Associated Cholelithiasis
Cholelithiasis, Biliary cirrhosis, Sclerosing cholangitis, Biliary tract obstruction, Hypercholes... ORPHA:69663
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Decreased circulating IgG level, T lymphocytopenia, Decreased circulating total IgM, Hepatospleno... ORPHA:35078
Cockayne Syndrome
Hepatomegaly, Splenomegaly, Elevated hepatic transaminase, Hyperuricemia ORPHA:191
Fanconi-Bickel Syndrome
Hypokalemia, Hypophosphatemia, Elevated circulating alkaline phosphatase concentration, Hypouricemia OMIM:227810
Isolated Biliary Atresia
Cholestasis, Periportal fibrosis, Bile duct proliferation, Elevated gamma-glutamyltransferase lev... ORPHA:30391
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
T lymphocytopenia, Absent natural killer cells, Abnormality of B cell physiology, Impaired lympho... OMIM:600802
Acyl-Coa Dehydrogenase 9 Deficiency
Hepatic steatosis, Increased circulating lactate dehydrogenase concentration, Elevated circulatin... ORPHA:99901
Hypouricemia, Familial Renal, Due To Tubular Hypersecretion
Hypouricemia OMIM:307830
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Interlobular bile duct destruction, Sclerosing cholangitis, Cirrhosis, Increased circulating IgG ... ORPHA:562639
Hypouricemia, Renal, 2
Hypouricemia OMIM:612076
Xanthinuria, Type Ii
Hypouricemia OMIM:603592
Hermansky-Pudlak Syndrome 2
Impaired ADP-induced platelet aggregation, Hepatosplenomegaly, Reduced natural killer cell activi... OMIM:608233
Pgm3-Cdg
Eosinophilia, T lymphocytopenia, Reduced antigen-specific T cell proliferation, Leukopenia, Decre... ORPHA:443811
Hypouricemia, Hypercalcinuria, And Decreased Bone Density
Hypouricemia OMIM:242050
Aregenerative Anemia
Pancytopenia, Bone marrow hypocellularity, Decreased proportion of CD4-positive helper T cells, A... ORPHA:101096
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Hepatic steatosis, Cholestasis, Hypercholesterolemia, Splenomegaly, Hepatomegaly, Elevated circul... ORPHA:370
Gallbladder Disease 1
Cholelithiasis, Cholangitis, Cholecystitis, Cholesterol gallstones, Jaundice, Elevated hepatic tr... OMIM:600803
Common Variable Immunodeficiency
Gastrointestinal stroma tumor, Abnormality of the liver, Lymphoma, Autoimmune thrombocytopenia, S... ORPHA:1572
Hypomagnesemia 3, Renal
Hypomagnesemia, Hyperuricemia OMIM:248250
Molybdenum Cofactor Deficiency, Complementation Group A
Hypouricemia, Aldehyde oxidase deficiency, Sulfite oxidase deficiency, Reduced xanthine dehydroge... OMIM:252150
Leukocyte Adhesion Deficiency
Leukocytosis, Impaired neutrophil chemotaxis, Impaired platelet aggregation, Bone marrow hypocell... ORPHA:2968
Hypouricemia, Renal, 1
Hypouricemia OMIM:220150
Mitochondrial Complex I Deficiency, Nuclear Type 20
Microvesicular hepatic steatosis, Hepatic failure, Thrombocytopenia, Elevated hepatic transaminase OMIM:611126
Ataxia-Telangiectasia
Elevated alpha-fetoprotein, T lymphocytopenia, Non-Hodgkin lymphoma, Decreased circulating IgG le... OMIM:208900
Familial Osteodysplasia, Anderson Type
Hyperuricemia ORPHA:2769
Infantile Liver Failure Syndrome 2
Jaundice, Acute hepatic failure, Elevated hepatic transaminase, Hyperammonemia OMIM:616483
Chylomicron Retention Disease
Hepatic steatosis, Increased hepatocellular lipid droplets, Acanthocytosis, Elevated hepatic tran... ORPHA:71
Hereditary Renal Hypouricemia
Increased blood urea nitrogen, Hypouricemia, Hyperuricosuria ORPHA:94088
Familial Pancreatic Carcinoma
Exocrine pancreatic insufficiency, Hepatosplenomegaly, Melanoma, Colon cancer, Breast carcinoma, ... ORPHA:1333
Shwachman-Diamond Syndrome 1
Pancytopenia, Exocrine pancreatic insufficiency, Acute myeloid leukemia, Hepatomegaly, Neutropeni... OMIM:260400
Lysinuric Protein Intolerance
Increased circulating lactate dehydrogenase concentration, Hepatic failure, Anemia, Pancreatitis,... ORPHA:470
Primary Sclerosing Cholangitis
Cholestasis, Neoplasm of the gallbladder, Hepatitis, Pancreatitis, Ascites, Cholelithiasis, Eleva... ORPHA:171
Amoebiasis Due To Entamoeba Histolytica
Leukocytosis, Lung abscess, Anemia, Elevated hepatic transaminase, Hypoalbuminemia, Liver abscess... ORPHA:67
Molybdenum Cofactor Deficiency, Complementation Group B
Molybdenum cofactor deficiency, Hypouricemia OMIM:252160
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Polycythemia, Abnormality of the liver, Portal hypertension, Decreased circulating ferritin conce... ORPHA:309854
Orotic Aciduria
Folate-unresponsive megaloblastic anemia, Hypochromia, Anisocytosis, Impaired T cell function, Re... OMIM:258900
Senior-Boichis Syndrome
Hepatosplenomegaly, Portal hypertension, Cholestasis, Ascites, Reduced number of intrahepatic bil... ORPHA:84081
Pearson Marrow-Pancreas Syndrome
Pancytopenia, Exocrine pancreatic insufficiency, Refractory sideroblastic anemia, Sideroblastic a... OMIM:557000
Juvenile Nephropathic Cystinosis
Hypokalemia, Hyponatremia, Elevated circulating creatinine concentration, Hypocalcemia, Elevated ... ORPHA:411634
Shwachman-Diamond Syndrome
Pancytopenia, Exocrine pancreatic insufficiency, Chronic neutropenia, Anemia, Aplastic anemia, Th... ORPHA:811
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
T lymphocytopenia, Decreased circulating IgA level, Reduced natural killer cell count, Increased ... OMIM:242860
Tyrosinemia, Type I
Elevated alpha-fetoprotein, Enlarged kidney, Hypophosphatemic rickets, Splenomegaly, Hypermethion... OMIM:276700
Lysosomal Acid Lipase Deficiency
Microvesicular hepatic steatosis, Hepatic failure, Hepatosplenomegaly, Hyponatremia, Vacuolated l... ORPHA:275761
Reynolds Syndrome
Biliary cirrhosis, Splenomegaly, Hepatomegaly, Jaundice, Calcinosis, Hyperbilirubinemia, Elevated... OMIM:613471
Gardner Syndrome
Hepatoblastoma, Adrenocortical carcinoma, Colon cancer, Osteoma, Lipoma, Pilomatrixoma, Adenomato... ORPHA:79665
Familial Adenomatous Polyposis 1
Multiple lipomas, Hepatoblastoma, Papillary thyroid carcinoma, Adrenocortical carcinoma, Colon ca... OMIM:175100
Familial Adenomatous Polyposis
Hepatoblastoma, Neoplasm of the gastrointestinal tract, Colon cancer, Osteoma, Neoplasm of the ga... ORPHA:733
Bloom Syndrome
Malignant genitourinary tract tumor, Decreased circulating IgG level, Esophageal neoplasm, Decrea... ORPHA:125
Combined Immunodeficiency With Faciooculoskeletal Anomalies
Decreased circulating total IgM, Decreased circulating total IgG, Decreased lymphocyte proliferat... ORPHA:221139
Doors Syndrome
Thrombocytosis, Capillary hemangioma ORPHA:79500
Autosomal Recessive Polycystic Kidney Disease
Hepatoblastoma, Cholestasis, Cholangitis, Elevated gamma-glutamyltransferase level, Ascites, Hype... ORPHA:731
Primary Fanconi Renotubular Syndrome
Hypokalemia, Hyperuricosuria, Bicarbonaturia, Hypophosphatemic rickets, Decreased plasma carnitin... ORPHA:3337
Immunodeficiency 82 With Systemic Inflammation
Decreased circulating total IgM, T lymphocytopenia, Decreased circulating total IgG, Decreased pr... OMIM:619381

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Urah

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 Urah.

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

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MGI Allele Allele Type Produced
Urahtm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Urahtm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Urahtm42907(L1L2_gt2) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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