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Gene: Habp2 MGI:1196378

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
hyaluronic acid binding protein 2
Synonyms:
FSAP

Order Alleles

IMPC Data Collections

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

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.

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 Habp2 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 Habp2 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Thyroid Cancer, Nonmedullary, 5
OMIM:616535
Thrombophilia Due To Thrombin Defect
OMIM:188050
Familial Papillary Or Follicular Thyroid Carcinoma
ORPHA:319487

The table below shows human diseases predicted to be associated to Habp2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hepatocellular Carcinoma
Micronodular cirrhosis, Subacute progressive viral hepatitis, Hepatocellular carcinoma OMIM:114550
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Hepatic bridging fibrosis, Hepatic fibrosis, Cholestasis, Elevated circulating aspartate aminotra... OMIM:619658
Hypertriglyceridemia, Transient Infantile
Hepatic fibrosis, Elevated gamma-glutamyltransferase level, Elevated circulating hepatic transami... OMIM:614480
Complement Component C1S Deficiency
Hashimoto thyroiditis, Hepatitis OMIM:613783
Gallbladder Disease 1
Hepatic fibrosis, Cholelithiasis, Elevated circulating hepatic transaminase concentration, Portal... OMIM:600803
Hepatitis Delta
Hepatic failure, Hepatitis, Elevated circulating aspartate aminotransferase concentration, Cirrho... ORPHA:402823
Bile Acid Synthesis Defect, Congenital, 5
Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Porta... OMIM:616278
Porphyria Cutanea Tarda, Type I
Hepatic fibrosis, Eczematoid dermatitis OMIM:176090
Splenoportal Vascular Anomalies
Hepatic fibrosis, Cirrhosis, Anomalous splenoportal venous system, Splenomegaly OMIM:271500
Hemochromatosis, Neonatal
Hepatic fibrosis, Hepatic failure, Hepatocellular necrosis, Cholestasis, Cirrhosis, Prolonged neo... OMIM:231100
Fadd-Related Immunodeficiency
Hepatic fibrosis, Decreased liver function ORPHA:306550
Cholestasis, Progressive Familial Intrahepatic, 8
Hepatic bridging fibrosis, Hepatic fibrosis, Elevated gamma-glutamyltransferase level, Cholestasi... OMIM:619662
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatic bridging fibrosis, Hepatic fibrosis, Hepatic failure, Splenomegaly, Hepatomegaly OMIM:616719
Bile Acid Synthesis Defect, Congenital, 3
Hepatic bridging fibrosis, Intrahepatic cholestasis, Hepatic failure, Hepatitis, Elevated circula... OMIM:613812
Hemochromatosis, Type 2B
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Splenomegaly, Cirrhosi... OMIM:613313
Complement Component 4B Deficiency
Recurrent otitis media, Recurrent pneumonia, Recurrent sinusitis, Chronic active hepatitis OMIM:614379
Dietary Iron Overload Disease
Hepatic bridging fibrosis, Hepatic fibrosis, Hepatitis, Abnormal pancreas morphology, Hepatic per... ORPHA:139507
Nephronophthisis 19
Malformation of the hepatic ductal plate, Hepatic fibrosis, Cholestasis, Splenomegaly, Hepatomega... OMIM:616217
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome
Periportal fibrosis OMIM:213010
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Hepatic bridging fibrosis, Portal inflammation, Elevated circulating alanine aminotransferase con... OMIM:613759
Sclerosing Cholangitis, Neonatal
Hepatic bridging fibrosis, Elevated gamma-glutamyltransferase level, Hepatic failure, Portal fibr... OMIM:617394
Cholesteryl Ester Storage Disease
Hepatic bridging fibrosis, Hepatic fibrosis, Hepatic failure, Periportal fibrosis, Elevated gamma... OMIM:278000
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hepatic fibrosis, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Incre... ORPHA:369
Retinitis Pigmentosa 89
Hepatic fibrosis, Hepatosplenomegaly, Intrahepatic bile duct dilatation, Micronodular cirrhosis OMIM:618955
Neonatal Hemochromatosis
Prolonged neonatal jaundice, Congenital hepatic fibrosis ORPHA:446
Citrullinemia, Type Ii, Adult-Onset
Hepatic fibrosis, Elevated gamma-glutamyltransferase level, Portal inflammation, Ballooning hepat... OMIM:603471
Pediatric Hepatocellular Carcinoma
Portal vein thrombosis, Hepatic fibrosis, Hepatic necrosis, Hepatomegaly ORPHA:33402
Lymphoproliferative Syndrome, X-Linked, 2
Inflammation of the large intestine, Folliculitis, Hepatitis, Splenomegaly, Erythema nodosum, Hep... OMIM:300635
Hepatorenocardiac Degenerative Fibrosis
Hepatic bridging fibrosis, Elevated circulating hepatic transaminase concentration, Hepatosplenom... OMIM:619902
Coach Syndrome 2
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Congenital hepatic fib... OMIM:619111
Alpha-1-Antitrypsin Deficiency
Hepatic failure, Hepatitis, Cholestasis, Cirrhosis, Hepatomegaly, Jaundice, Panniculitis, Bronchi... ORPHA:60
Cholestasis, Progressive Familial Intrahepatic, 6
Intrahepatic cholestasis, Periportal fibrosis, Elevated circulating hepatic transaminase concentr... OMIM:619484
Glycogen Storage Disease Iii
Hepatomegaly, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Reduced ... OMIM:232400
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Recurrent otitis media, Splenomegaly, Hepatitis ORPHA:444463
Bile Acid Malabsorption, Primary, 2
Elevated gamma-glutamyltransferase level, Periportal fibrosis, Elevated circulating aspartate ami... OMIM:619481
Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome
Acute hepatic failure, Hepatic fibrosis, Hepatosplenomegaly ORPHA:466794
Bile Acid Synthesis Defect, Congenital, 1
Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio... OMIM:607765
Autoinflammatory-Pancytopenia Syndrome
Cholestatic liver disease, Hepatic fibrosis, Hepatosplenomegaly, Chilblains, Intestinal inflammat... OMIM:619858
Hepatitis, Fulminant Viral, Susceptibility To
Hepatic failure, Elevated circulating hepatic transaminase concentration, Hashimoto thyroiditis, ... OMIM:618549
Parenteral Nutrition-Associated Cholestasis
Hepatic fibrosis, Cholelithiasis, Hepatic failure, Elevated circulating hepatic transaminase conc... ORPHA:567983
Caroli Disease
Intrahepatic cholestasis, Cholelithiasis, Hepatic fibrosis, Biliary cirrhosis, Elevated gamma-glu... ORPHA:53035
Plin1-Related Familial Partial Lipodystrophy
Hepatic fibrosis, Hepatic steatosis ORPHA:280356
Mpi-Cdg
Hepatic fibrosis, Decreased liver function, Abnormal circulating enzyme concentration or activity... ORPHA:79319
Meckel Syndrome, Type 3
Malformation of the hepatic ductal plate, Hepatic fibrosis, Bile duct proliferation, Hepatomegaly OMIM:607361
Autoimmune Hepatitis
Inflammation of the large intestine, Elevated circulating hepatic transaminase concentration, Vir... ORPHA:2137
Bile Acid Synthesis Defect, Congenital, 4
Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio... OMIM:214950
Wilson Disease
Elevated circulating hepatic transaminase concentration, Hepatitis, Acute hepatic failure, Acute ... ORPHA:905
Immunodeficiency 56
Hepatic failure, Recurrent pneumonia, Recurrent otitis media, Recurrent sinusitis, Chronic hepati... OMIM:615207
Congenital Bile Acid Synthesis Defect Type 2
Giant cell hepatitis, Hepatic failure, Elevated circulating hepatic transaminase concentration, I... ORPHA:79303
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Hepatic fibrosis, Hepatic failure, Cholestasis, Portal hypertension, Splenomegaly, Sclerosing cho... OMIM:607626
Infantile Liver Failure Syndrome 3
Hepatic bridging fibrosis, Elevated circulating hepatic transaminase concentration, Cholestasis, ... OMIM:618641
Hepatoportal Sclerosis
Nodular regenerative hyperplasia of liver, Periportal fibrosis, Elevated circulating hepatic tran... ORPHA:64743
Hjv Or Hamp-Related Hemochromatosis
Elevated circulating hepatic transaminase concentration, Abnormality of endocrine pancreas physio... ORPHA:79230
Congenital Disorder Of Glycosylation, Type Iiaa
Hepatic fibrosis, Hepatic failure, Nodular regenerative hyperplasia of liver, Biliary cirrhosis, ... OMIM:620454
Adams-Oliver Syndrome 6
Hepatic fibrosis, Portal hypertension, Splenomegaly OMIM:616589
Porphyria Cutanea Tarda
Periportal fibrosis, Elevated circulating hepatic transaminase concentration, Portal inflammation... ORPHA:101330
Senior-Loken Syndrome
Congenital hepatic fibrosis ORPHA:3156
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hepatic fibrosis, Hepatic failure, Cholestasis, Splenomegaly, Hepatomegaly OMIM:615630
Isolated Biliary Atresia
Elevated gamma-glutamyltransferase level, Periportal fibrosis, Elevated circulating hepatic trans... ORPHA:30391
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Intrahepatic cholestasis, Hepatic fibrosis, Elevated gamma-glutamyltransferase level, Decreased l... OMIM:617093
Autosomal Agammaglobulinemia
Bronchiectasis, Hepatitis, Osteomyelitis, Skin rash, Arthritis, Sinusitis, Conjunctivitis, Recurr... ORPHA:33110
Senior-Loken Syndrome 9
Cholestasis, Hepatic fibrosis, Tubulointerstitial nephritis OMIM:616629
Cerebroretinal Microangiopathy With Calcifications And Cysts 2
Hepatic fibrosis, Portal hypertension OMIM:617341
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome
Hepatitis ORPHA:363523
Joubert Syndrome 9
Hepatic fibrosis OMIM:612285
Nephronophthisis 16
Cholestasis, Periportal fibrosis OMIM:615382
Congenital Disorder Of Glycosylation, Type Iih
Elevated serum transaminases during infections, Elevated circulating aspartate aminotransferase c... OMIM:611182
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Acute hepatic steatosis, Hepatitis, Cholestasis, Hepatic steatosis, Cholesterol gallstones, Macro... ORPHA:209902
Renal-Hepatic-Pancreatic Dysplasia 2
Malformation of the hepatic ductal plate, Hepatic fibrosis, Cholestasis, Hepatic cysts, Hepatomeg... OMIM:615415
Transaldolase Deficiency
Hepatic fibrosis, Micronodular cirrhosis, Decreased liver function, Hepatosplenomegaly, Splenomeg... OMIM:606003
Renal-Hepatic-Pancreatic Dysplasia 1
Malformation of the hepatic ductal plate, Hepatic fibrosis, Biliary cirrhosis, Polysplenia, Chole... OMIM:208540
Interstitial Lung And Liver Disease
Hepatic fibrosis, Hepatic failure, Elevated gamma-glutamyltransferase level, Cholestasis, Elevate... OMIM:615486
Primary Sclerosing Cholangitis
Cholestasis, Acute hepatic failure, Hepatosplenomegaly, Abnormal biliary tract morphology, Cirrho... ORPHA:171
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Cholestatic liver disease, Elevated gamma-glutamyltransferase level, Inflammation of the large in... ORPHA:562639
Congenital Disorder Of Glycosylation, Type Ib
Hepatomegaly, Hepatic fibrosis, Hepatic failure, Cirrhosis OMIM:602579
Beta-Thalassemia
Hepatomegaly, Splenomegaly, Cholelithiasis, Hepatitis ORPHA:848
Fetal Cytomegalovirus Syndrome
Elevated circulating hepatic transaminase concentration, Hepatitis, Splenomegaly, Hepatomegaly, J... ORPHA:294
Drug Reaction With Eosinophilia And Systemic Symptoms
Elevated circulating hepatic transaminase concentration, Hepatitis, Acute hepatic failure, Inters... ORPHA:139402
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Pneumonia, Recurrent pneumonia, Hepatitis, Hepatosplenomegaly, Otitis media, Erythroderma, Chroni... ORPHA:169160
Macrophage Activation Syndrome
Increased circulating lactate dehydrogenase concentration, Hepatitis, Decreased liver function, E... ORPHA:158061
Coach Syndrome 1
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Intrahepatic bile duct... OMIM:216360
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Depletion of mitochondrial DNA in liver, Hepatic failure, Periportal fibrosis, Elevated circulati... OMIM:251880
Melioidosis
Pneumonia, Foot osteomyelitis, Hepatitis, Cutaneous abscess, Parotitis, Abnormality of the spleen... ORPHA:31202
Primary Biliary Cholangitis
Hepatic fibrosis, Hepatic failure, Biliary cirrhosis, Elevated gamma-glutamyltransferase level, H... ORPHA:186
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Cholelithiasis, Hepatitis, Splenomegaly, Hepatomegaly, Jaundice OMIM:194380
Immunodeficiency 47
Hepatic bridging fibrosis, Hepatic fibrosis, Accessory spleen, Elevated circulating hepatic trans... OMIM:300972
Caroli Syndrome
Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio... ORPHA:480520
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Chole... ORPHA:541423
Laurence-Moon Syndrome
Congenital hepatic fibrosis ORPHA:2377
Trichohepatoenteric Syndrome 2
Hepatomegaly, Colitis, Cirrhosis, Chronic hepatitis OMIM:614602
Congenital Isolated Acth Deficiency
Prolonged neonatal jaundice, Hepatitis ORPHA:199296
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatic fibrosis, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Chole... ORPHA:264580
Senior-Boichis Syndrome
Malformation of the hepatic ductal plate, Hepatic fibrosis, Elevated circulating hepatic transami... ORPHA:84081
X-Linked Agammaglobulinemia
Recurrent pneumonia, Hepatitis, Osteomyelitis, Skin rash, Recurrent cutaneous abscess formation, ... ORPHA:47
Graft Versus Host Disease
Pneumonia, Elevated circulating hepatic transaminase concentration, Inflammatory abnormality of t... ORPHA:39812
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatic fibrosis, Periportal fibrosis, Portal hypertension, Hepatic cysts, Splenomegaly, Hepatome... OMIM:263200
Dpm1-Cdg
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Hepatosplenomegaly, He... ORPHA:79322
Congenital Bile Acid Synthesis Defect Type 4
Cholestatic liver disease, Giant cell hepatitis, Cholelithiasis, Elevated circulating hepatic tra... ORPHA:79095
Congenital Disorder Of Glycosylation, Type It
Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Hepatitis, Rec... OMIM:614921
Immunodeficiency With Hyper-Igm, Type 1
Hepatitis, Splenomegaly, Sclerosing cholangitis, Enteroviral encephalitis, Cirrhosis, Chronic hep... OMIM:308230
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Hepatomegaly, Acute hepatitis, Decreased liver function OMIM:238970
Meckel Syndrome, Type 6
Hepatic fibrosis, Absent gallbladder, Hepatic cysts, Bile duct proliferation, Cystic liver disease OMIM:612284
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Cholestatic liver disease, Giant cell hepatitis, Elevated circulating hepatic transaminase concen... OMIM:613404
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Abnormal circulating e... ORPHA:79240
Lathosterolosis
Hepatic fibrosis, Intrahepatic cholestasis, Elevated gamma-glutamyltransferase level, Elevated ci... OMIM:607330
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Periportal fibrosis, Hepatocellular necrosis, Hepatic steatosis, Hepatomegaly, Necrotizing entero... OMIM:201475
Mhc Class Ii Deficiency 1
Chronic mucocutaneous candidiasis, Infectious encephalitis, Biliary tract abnormality, Colitis, C... OMIM:209920
Lichen Planopilaris
Hepatitis ORPHA:525
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hepatic fibrosis, Inflammation of the large intestine, Elevated circulating hepatic transaminase ... OMIM:615895
Cryoglobulinemic Vasculitis
Abnormality of the liver, Splenomegaly, Keratoconjunctivitis sicca, Arthritis, Hepatomegaly, Vira... ORPHA:91138
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatic fibrosis, Hepatitis, Pancreatic hypoplasia, Cholestasis, Portal hypertension, Splenic cys... OMIM:610199
Autoimmune Polyendocrine Syndrome, Type Ii
Hepatitis, Chronic mucocutaneous candidiasis, Exocrine pancreatic insufficiency, Keratoconjunctiv... OMIM:269200
Griscelli Syndrome
Hepatomegaly, Jaundice, Hepatitis, Splenomegaly ORPHA:381
Dominant Beta-Thalassemia
Hepatic fibrosis, Hepatosplenomegaly, Hypersplenism, Splenomegaly, Cirrhosis, Chronic hepatitis, ... ORPHA:231226
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Cholestatic liver disease, Giant cell hepatitis, Elevated gamma-glutamyltransferase level, Elevat... OMIM:208085
Aicardi-Goutieres Syndrome 9
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Hepatosplenomegaly, Po... OMIM:619487
Osteootohepatoenteric Syndrome
Hepatic fibrosis, Portal fibrosis, Cholestasis, Microvesicular hepatic steatosis, Prolonged neona... OMIM:619377
Citrullinemia Type Ii
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Pan... ORPHA:247585
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency
Hepatitis, Acute hepatic failure, Hepatosplenomegaly, Hypersplenism, Portal hypertension, Cirrhos... ORPHA:228426
Aspergillosis
Pneumonia, Keratitis, Hepatitis, Osteomyelitis, Infectious encephalitis, Sinusitis, Bronchiectasis ORPHA:1163
Adult-Onset Still Disease
Elevated circulating hepatic transaminase concentration, Hepatitis, Interstitial pneumonitis, Spl... ORPHA:829
Peroxisome Biogenesis Disorder 1B
Hepatomegaly, Hepatic fibrosis, Cirrhosis OMIM:601539
Legionnaires Disease
Hepatitis, Splenomegaly, Infectious encephalitis, Pancreatitis, Myocarditis, Jaundice, Endocardit... ORPHA:549
Joubert Syndrome 6
Hepatic fibrosis, Bile duct proliferation OMIM:610688
Q Fever
Pneumonia, Elevated circulating hepatic transaminase concentration, Hepatitis, Osteomyelitis, Hep... ORPHA:781
Donohue Syndrome
Cholestasis, Hepatic fibrosis, Pancreatic islet-cell hyperplasia OMIM:246200
Isolated Sedoheptulokinase Deficiency
Cholestasis, Portal hypertension, Hepatitis, Cholestatic liver disease ORPHA:440713
Avian Influenza
Pneumonia, Myelitis, Elevated circulating hepatic transaminase concentration, Increased circulati... ORPHA:454836
Autosomal Recessive Polycystic Kidney Disease
Hepatic fibrosis, Periportal fibrosis, Elevated gamma-glutamyltransferase level, Recurrent pneumo... ORPHA:731
Congenital Enterovirus Infection
Hepatic failure, Hepatitis, Cholestasis, Skin rash, Infectious encephalitis, Myocarditis ORPHA:292
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Eczematoid dermatitis, Hepatitis, Erythroderma, Glomerulonephritis, Arthritis OMIM:304790
Farber Disease
Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Hepat... ORPHA:333
Joubert Syndrome With Hepatic Defect
Elevated circulating hepatic transaminase concentration, Portal hypertension, Splenomegaly, Conge... ORPHA:1454
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Allergic rhinitis, Pneumonia, Recurrent pneumonia, Rheumatoid arthritis, Bronchiectasis, Atopic d... ORPHA:183675
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Hepatitis, Hypersplenism, Portal hypertension, Splenomegaly, Hashimoto thyroiditis, Hepatomegaly OMIM:613385
Hardikar Syndrome
Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Porta... OMIM:301068
Cirrhosis, Familial
Biliary cirrhosis, Micronodular cirrhosis, Cirrhosis, Jaundice, Fulminant hepatitis OMIM:215600
Bacterial Toxic-Shock Syndrome
Pneumonia, Hepatitis, Fasciitis, Osteomyelitis, Skin rash, Infectious encephalitis, Myositis, Myo... ORPHA:36234
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Pneumonia, Inflammatory abnormality of the skin, Elevated circulating hepatic transaminase concen... ORPHA:37042
Mednik Syndrome
Cholestasis, Hepatic fibrosis, Cirrhosis OMIM:609313
Autoinflammatory Disease, Systemic, With Vasculitis
Hepatic fibrosis, Elevated gamma-glutamyltransferase level, Atopic dermatitis, Conjunctivitis, Pa... OMIM:620376
Beta-Thalassemia Major
Hepatic fibrosis, Hepatosplenomegaly, Hypersplenism, Splenomegaly, Cirrhosis, Hepatomegaly, Jaund... ORPHA:231214
Gillessen-Kaesbach-Nishimura Syndrome
Periportal fibrosis OMIM:263210
Microsporidiosis
Pneumonia, Nephritis, Lymphadenitis, Hepatitis, Keratitis, Abnormality of the spleen, Osteomyelit... ORPHA:2552
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Pneumonia, Recurrent otitis media, Pyoderma, Infectious encephalitis, Prostatitis, Enteroviral he... OMIM:307200
Congenital Disorder Of Glycosylation, Type Ia
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Hep... OMIM:212065
Lysosomal Acid Lipase Deficiency
Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Decre... ORPHA:275761
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Hepatic fibrosis, Nephritis, Bile duct proliferation, Pancreatic fibrosis, Jaundice, Pancreatic c... OMIM:208500
Trichohepatoenteric Syndrome 1
Hepatic fibrosis, Hepatic failure, Cholestasis, Splenomegaly, Cirrhosis, Hepatomegaly, Jaundice, ... OMIM:222470
Acrocephalopolydactylous Dysplasia
Hepatomegaly, Hepatic fibrosis, Polysplenia, Pancreatic fibrosis OMIM:200995
Nephronophthisis 11
Hepatic fibrosis OMIM:613550
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Hepatic fibrosis OMIM:614091
Myasthenia Gravis
Myositis, Rheumatoid arthritis, Hashimoto thyroiditis, Hepatitis ORPHA:589
Immunodeficiency By Defective Expression Of Mhc Class Ii
Chronic mucocutaneous candidiasis, Skin rash, Sclerosing cholangitis, Acute otitis media, Chronic... ORPHA:572
Ebola Hemorrhagic Fever
Maculopapular exanthema, Acute pancreatitis, Hepatitis ORPHA:319218
Nephronophthisis 3
Hepatic fibrosis OMIM:604387
Argininosuccinic Aciduria
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hepatic fibrosis OMIM:207900
Chronic Mucocutaneous Candidiasis
Skin rash, Cheilitis, Hepatitis ORPHA:1334
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Atrophic gastritis, Cholelithiasis, Chronic mucocutaneous candidiasis, Keratoconjunctivitis, Irid... OMIM:240300
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Hepatic fibrosis, Exocrine pancreatic insufficiency, Hepatic steatosis, Pancreatic fibrosis, Hepa... OMIM:616263
Syndromic Diarrhea
Hepatic fibrosis, Abnormality of the liver, Splenomegaly, Hepatoblastoma, Cirrhosis, Gastritis, H... ORPHA:84064
Mucopolysaccharidosis Type 7
Splenomegaly, Hepatitis ORPHA:584
Dyskeratosis Congenita, Autosomal Recessive 1
Hepatic fibrosis OMIM:224230
Adams-Oliver Syndrome
Cirrhosis, Portal hypertension, Congenital hepatic fibrosis ORPHA:974
Immunodeficiency 113 With Autoimmunity And Autoinflammation
Minimal change glomerulonephritis, Eczematoid dermatitis, Hepatitis, Splenomegaly, Myositis, Hepa... OMIM:620565
Autoimmune Polyendocrinopathy Type 4
Atrophic gastritis, Aplasia/Hypoplasia of the spleen, Rheumatoid arthritis, Biliary cirrhosis, He... ORPHA:227990
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Congenital hepatic fibrosis ORPHA:2031
Dyskeratosis Congenita, Autosomal Dominant 2
Hepatic fibrosis OMIM:613989
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Accessory spleen, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Exoc... OMIM:620005
Abetalipoproteinemia
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Cir... ORPHA:14
Relapsing Polychondritis
Uveitis, Keratitis, Hepatitis, Recurrent aphthous stomatitis, Chondritis, Episcleritis, Chondriti... ORPHA:728
Autoimmune Polyendocrinopathy Type 3
Atrophic gastritis, Aplasia/Hypoplasia of the spleen, Rheumatoid arthritis, Biliary cirrhosis, He... ORPHA:227982
Spondyloenchondrodysplasia
Pneumonia, Hepatitis, Skin rash, Arthritis, Juvenile rheumatoid arthritis ORPHA:1855
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Hepatic failure, Elevated circulating hepatic transaminase concentration, Hepatitis, Decreased li... ORPHA:415
Rift Valley Fever
Elevated circulating hepatic transaminase concentration, Hepatitis, Skin rash, Infectious encepha... ORPHA:319251
Zygomycosis
Nephritis, Hepatitis, Fasciitis, Infectious encephalitis, Pustule, Peritonitis, Enterocolitis, Pa... ORPHA:73263
T-Cell Immunodeficiency With Thymic Aplasia
Pneumonia, Eczematoid dermatitis, Atypical or prolonged hepatitis, Sinusitis, Chronic otitis medi... ORPHA:83471
Agammaglobulinemia, X-Linked
Recurrent pneumonia, Bronchiectasis, Recurrent otitis media, Pyoderma, Recurrent sinusitis, Infec... OMIM:300755
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Hepatic fibrosis, Cholestasis, Hepatosplenomegaly, Congenital hepatic fibrosis, Hepatomegaly, Cho... OMIM:266920
Joubert Syndrome 1
Hepatic fibrosis OMIM:213300
Lymphoproliferative Syndrome, X-Linked, 1
Hepatic failure, Splenomegaly, Infectious encephalitis, Hepatomegaly, Fulminant hepatitis OMIM:308240
Meckel Syndrome 14
Hepatic fibrosis OMIM:619879
Wilson Disease
Hepatic failure, Portal fibrosis, Acute hepatic failure, Elevated circulating aspartate aminotran... OMIM:277900
Aicardi-Goutieres Syndrome 7
Atrophic gastritis, Pneumonia, Atopic dermatitis, Hepatitis, Splenomegaly, Chilblains, Hepatic st... OMIM:615846
Acute Disseminated Encephalomyelitis
Optic neuritis, Myelitis, Herpes simplex encephalitis, Viral hepatitis ORPHA:83597
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Psoriasiform dermatitis, Interface hepatitis, Enterocolitis OMIM:243150
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Elevated gamma-glutamyltransferase level, Periportal fibrosis, Elevated circulating hepatic trans... OMIM:124000
Arima Syndrome
Hepatomegaly, Hepatic fibrosis, Cirrhosis, Hepatic steatosis OMIM:243910
Mccune-Albright Syndrome
Cholestasis, Hepatocellular adenoma, Pancreatitis, Hepatitis ORPHA:562
Cranioectodermal Dysplasia 1
Malformation of the hepatic ductal plate, Hepatic fibrosis, Hepatic failure, Hepatic cysts, Hepat... OMIM:218330
Bardet-Biedl Syndrome 1
Hepatic fibrosis, Biliary tract abnormality OMIM:209900
Autoimmune Lymphoproliferative Syndrome
Uveitis, Hepatitis, Hypersplenism, Recurrent aphthous stomatitis, Splenomegaly, Gastritis, Glomer... ORPHA:3261
Congenital Disorder Of Deglycosylation 1
Hepatomegaly, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration OMIM:615273
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Inflammatory abnormality of the skin, Eczematoid dermatitis, Hepatitis, Chronic mucocutaneous can... ORPHA:391487
Idiopathic Hypereosinophilic Syndrome
Portal fibrosis, Elevated circulating hepatic transaminase concentration, Inflammatory abnormalit... ORPHA:3260
Late-Onset Isolated Acth Deficiency
Hashimoto thyroiditis, Hepatitis ORPHA:199299
Simple Cryoglobulinemia
Nephritis, Viral hepatitis, Membranoproliferative glomerulonephritis, Arthritis, Pericarditis ORPHA:91139
Orofaciodigital Syndrome I
Hepatic fibrosis, Pancreatic cysts, Hepatic cysts OMIM:311200
Combined Immunodeficiency-Enteropathy Spectrum
Peritoneal abscess, Hepatitis, Psoriasiform dermatitis, Hashimoto thyroiditis, Abnormal ductus ch... ORPHA:436252
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Hepatic fibrosis, Pancreatic fibrosis OMIM:263520
Kawasaki Disease
Hepatitis, Conjunctivitis, Cholecystitis, Skin rash, Arthritis, Myocarditis, Jaundice, Cheilitis,... ORPHA:2331
Primary Sjögren Syndrome
Arteritis, Biliary cirrhosis, Parotitis, Chronic hepatitis, Lymphocytic interstitial pneumonia, M... ORPHA:289390
Immunodeficiency 82 With Systemic Inflammation
Pneumonia, Hepatitis, Pustular rash, Recurrent otitis media, Osteomyelitis, Splenomegaly, Skin ra... OMIM:619381
Acute Liver Failure
Elevated circulating hepatic transaminase concentration, Hepatitis, Hepatocellular necrosis, Hepa... ORPHA:90062
Alstrom Syndrome
Nephritis, Recurrent pneumonia, Elevated circulating hepatic transaminase concentration, Hepatic ... OMIM:203800
Turner Syndrome Due To Structural X Chromosome Anomalies
Cholestatic liver disease, Hepatic fibrosis, Inflammation of the large intestine, Elevated circul... ORPHA:99413
Turner Syndrome
Cholestatic liver disease, Hepatic fibrosis, Inflammation of the large intestine, Elevated circul... ORPHA:881
Mosaic Monosomy X
Cholestatic liver disease, Hepatic fibrosis, Inflammation of the large intestine, Elevated circul... ORPHA:99228
Monosomy X
Cholestatic liver disease, Hepatic fibrosis, Inflammation of the large intestine, Elevated circul... ORPHA:99226
Biliary, Renal, Neurologic, And Skeletal Syndrome
Hepatic fibrosis, Elevated gamma-glutamyltransferase level, Biliary cirrhosis, Cholestasis, Eleva... OMIM:619534
Short-Rib Thoracic Dysplasia 12
Hepatomegaly, Periportal fibrosis, Splenomegaly OMIM:269860
Leptospirosis
Uveitis, Hepatitis, Skin rash, Elevated serum transaminases during infections, Optic neuritis, He... ORPHA:509
Gaucher Disease
Splenic infarction, Cholelithiasis, Hepatic failure, Hepatitis, Osteomyelitis, Splenomegaly, Cirr... ORPHA:355
Postinfectious Vasculitis
Pneumonia, Bacterial endocarditis, Inflammatory abnormality of the skin, Orchitis, Increased infl... ORPHA:48435
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Hepatic fibrosis, Cholelithiasis, Bacterial endocarditis, Abnormality of the spleen, Hepatospleno... ORPHA:2072
Alg9-Cdg
Hepatomegaly, Periportal fibrosis, Hepatic cysts ORPHA:79328
Meckel Syndrome
Accessory spleen, Congenital hepatic fibrosis, Pancreatic fibrosis, Asplenia, Pancreatic cysts, C... ORPHA:564
Bardet-Biedl Syndrome
Hepatic fibrosis, Inflammation of the large intestine, Elevated circulating hepatic transaminase ... ORPHA:110
Occipital Horn Syndrome
Cholestasis, Jaundice, Esophagitis, Hepatitis ORPHA:198
Johanson-Blizzard Syndrome
Intrahepatic cholestasis, Hepatic fibrosis, Hepatic failure, Elevated gamma-glutamyltransferase l... OMIM:243800
Lujo Hemorrhagic Fever
Elevated circulating hepatic transaminase concentration, Increased circulating lactate dehydrogen... ORPHA:319213
Alström Syndrome
Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Eleva... ORPHA:64
Pmm2-Cdg
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Aspiration pneumonia, ... ORPHA:79318
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Congenital hepatic fibrosis ORPHA:93271
Thrombophilia Due To Thrombin Defect
OMIM:188050
Familial Papillary Or Follicular Thyroid Carcinoma
ORPHA:319487
Thyroid Cancer, Nonmedullary, 5
OMIM:616535

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 Habp2

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 Habp2.

No publications found that use IMPC mice or data for Habp2.

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