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Gene: Faim MGI:1344387

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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:
Fas apoptotic inhibitory molecule
Synonyms:
Faim-L,  Faim-S

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 Faim 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 Faim by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Gilbert Syndrome
Elevated hepatic transaminase, Jaundice, Hepatic failure, Unconjugated hyperbilirubinemia OMIM:143500
Hepatitis, Fulminant Viral, Susceptibility To
Elevated hepatic transaminase, Hepatomegaly, Nausea, Poor appetite, Jaundice, Fulminant hepatitis... OMIM:618549
Congenital Disorder Of Glycosylation, Type Iio
Elevated hepatic transaminase, Hepatomegaly, Decreased circulating ceruloplasmin concentration, E... OMIM:616828
Ceroid storage disease
Abnormality of the spleen, Hepatic failure OMIM:214200
Congenital Disorder Of Glycosylation, Type Iip
Elevated hepatic transaminase, Decreased circulating ceruloplasmin concentration, Increased LDL c... OMIM:616829
Hemochromatosis, Neonatal
Abnormal bleeding, Increased circulating ferritin concentration, Cholestasis, Hepatocellular necr... OMIM:231100
Complement Component C1S Deficiency
Hepatitis, Hashimoto thyroiditis OMIM:613783
Bile Acid Conjugation Defect 1
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbili... OMIM:619232
Alpha-1-Antitrypsin Deficiency
Hepatomegaly, Jaundice, Hepatic failure, Hepatitis ORPHA:60
Patent Ductus Venosus
Hyperammonemia, Congenital portosystemic venous shunt, Persistent patent ductus venosus, Decrease... OMIM:601466
Bile Acid Synthesis Defect, Congenital, 5
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Portal ... OMIM:616278
Hepatocellular Carcinoma
Hepatocellular carcinoma, Micronodular cirrhosis, Subacute progressive viral hepatitis OMIM:114550
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hepatic failure, Hepatic steatosis OMIM:261650
Immunodeficiency 56
Recurrent infection of the gastrointestinal tract, Cholangitis, Recurrent pneumonia, Chronic diar... OMIM:615207
Lymphoproliferative Syndrome, X-Linked, 2
Hepatomegaly, Hypertriglyceridemia, Acne, Recurrent skin infections, Erythema nodosum, Increased ... OMIM:300635
Bile Acid Synthesis Defect, Congenital, 3
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hepatic bridging fib... OMIM:613812
Cholesteryl Ester Storage Disease
Nausea and vomiting, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Jaundice, Diarrhea, Cirrho... ORPHA:75234
Lymphoproliferative Syndrome, X-Linked, 1
Hepatomegaly, Dysgammaglobulinemia, Elevated circulating C-reactive protein concentration, Reduce... OMIM:308240
Tyrosinemia Type 1
Acute hepatic failure, Hepatomegaly, Splenomegaly, Hepatocellular carcinoma ORPHA:882
Combined Oxidative Phosphorylation Deficiency 46
Decreased liver function OMIM:618952
Congenital Disorder Of Glycosylation, Type Iir
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Micronodular cirrhosis, Decreased circulat... OMIM:301045
Bile Acid Synthesis Defect, Congenital, 4
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Elevated circulating aspartate... OMIM:214950
Bile Acid Synthesis Defect, Congenital, 2
Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis, Jaundice, Splenomegaly, Di... OMIM:235555
Galactose Mutarotase Deficiency
Hepatomegaly, Abnormal circulating enzyme concentration or activity, Cholestasis, Hypergalactosem... ORPHA:570422
Bile Acid Synthesis Defect, Congenital, 1
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Conjugated hyperbilirubinemia,... OMIM:607765
Cholesteryl Ester Storage Disease
Acute hepatic failure, Decreased HDL cholesterol concentration, Hepatic fibrosis, Elevated gamma-... OMIM:278000
Congenital Bile Acid Synthesis Defect Type 3
Elevated circulating aspartate aminotransferase concentration, Jaundice, Elevated circulating ala... ORPHA:79302
Cholestasis, Progressive Familial Intrahepatic, 4
Portal hypertension, Intrahepatic cholestasis, Cirrhosis, Hepatocellular carcinoma, Hepatic failure OMIM:615878
Peroxisome Biogenesis Disorder 7B
Decreased liver function OMIM:614873
Combined Oxidative Phosphorylation Deficiency 34
Hepatomegaly, Elevated circulating creatinine concentration, Primary adrenal insufficiency, Vomit... OMIM:617872
Liver Failure, Infantile, Transient
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Feeding difficulties in infan... OMIM:613070
Congenital Factor Xiii Deficiency
Epistaxis, Cerebral hemorrhage, Joint hemorrhage, Prolonged bleeding after surgery, Hepatic failu... ORPHA:331
Combined Oxidative Phosphorylation Deficiency 30
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... OMIM:616974
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Fulminant hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentr... OMIM:618528
Congenital Bile Acid Synthesis Defect Type 2
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Abnormal circulating enzyme co... ORPHA:79303
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Elevated hepatic transaminase, Increased serum pyruvate, Episodic vomiting, Hyperammonemia, Poor ... OMIM:615160
Ornithine Transcarbamylase Deficiency
Splenomegaly, Hepatic failure, Hyperammonemia ORPHA:664
Pyruvate Dehydrogenase E3 Deficiency
Elevated hepatic transaminase, Hepatomegaly, Abnormal cardiac ventricular function, Elevated circ... ORPHA:2394
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Chronic oral candidiasis, Pneumonia, Anorexia, Diarrhea, Recurrent pneumonia, Hepatitis, Erythrod... ORPHA:169160
Complement Component 4B Deficiency
Chronic active hepatitis, Chronic diarrhea, Recurrent pneumonia, Recurrent sinusitis, Recurrent o... OMIM:614379
Autoimmune Hepatitis
Spider hemangioma, Fulminant hepatitis, Increased circulating IgG level, Inflammation of the larg... ORPHA:2137
Cholestasis, Progressive Familial Intrahepatic, 5
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alpha-fetopro... OMIM:617049
Infantile Liver Failure Syndrome 2
Elevated hepatic transaminase, Acute hepatic failure, Jaundice, Hyperammonemia, Cardiomyopathy, P... OMIM:616483
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatomegaly, Splenomegaly, Hepatic fibrosis, Hepatic failure, Hepatic bridging fibrosis OMIM:616719
Hyperbiliverdinemia
Cholelithiasis, Elevated circulating biliverdin concentration, Decreased liver function, Cholestasis OMIM:614156
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification
Hepatic failure, Cirrhosis, Portal hypertension OMIM:210050
Protoporphyria, Erythropoietic, 1
Cholelithiasis, Hepatic failure, Eczema, Hypertriglyceridemia OMIM:177000
Immunodeficiency With Hyper-Igm, Type 1
Hepatomegaly, Dysgammaglobulinemia, Impaired Ig class switch recombination, Increased circulating... OMIM:308230
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... ORPHA:228305
Lethal Infantile Mitochondrial Myopathy
Cardiomyopathy, Fatal liver failure in infancy ORPHA:254857
Congenital Disorder Of Glycosylation, Type Iij
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Chronic diarrhea, Feeding difficulties... OMIM:613489
Dietary Iron Overload Disease
Hepatomegaly, Viral hepatitis, Hepatocellular carcinoma, Congestive heart failure, Micronodular c... ORPHA:139507
Acquired Purpura Fulminans
Shock, Skin rash, Elevated circulating C-reactive protein concentration, Intracranial hemorrhage,... ORPHA:49566
Sclerosing Cholangitis, Neonatal
Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir... OMIM:617394
Primary Biliary Cholangitis
Orthostatic hypotension, Abnormal circulating lipid concentration, Portal hypertension, Increased... ORPHA:186
Mitochondrial Dna Depletion Syndrome 17
Low plasma citrulline, Hepatic failure, Hyperammonemia OMIM:618567
Mpi-Cdg
Gastrointestinal hemorrhage, Hepatomegaly, Abnormal circulating enzyme concentration or activity,... ORPHA:79319
Odontomatosis-Aortae Esophagus Stenosis Syndrome
Myocarditis, Hepatic failure, Dysphagia ORPHA:2724
Carnitine Palmitoyl Transferase 1A Deficiency
Elevated hepatic transaminase, Hepatomegaly, Sudden cardiac death, Arrhythmia, Transient hyperlip... ORPHA:156
Babesiosis
Nausea and vomiting, Hepatomegaly, Myocardial infarction, Anorexia, Congestive heart failure, Jau... ORPHA:108
Fadd-Related Immunodeficiency
Hepatic fibrosis, Decreased liver function ORPHA:306550
Parenteral Nutrition-Associated Cholestasis
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Abdominal pain, Biliary hyperpl... ORPHA:567983
Dihydrolipoamide Dehydrogenase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Increased serum pyruvate, Feeding difficulties, Decr... OMIM:246900
Peroxisome Biogenesis Disorder 6A (Zellweger)
Feeding difficulties in infancy, Hepatomegaly, Decreased liver function OMIM:614870
Budd-Chiari Syndrome
Gastrointestinal hemorrhage, Hepatomegaly, Acute hepatic failure, Elevated hepatic transaminase, ... ORPHA:131
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Recurrent otitis media, Splenomegaly, Hepatitis ORPHA:444463
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Elevated circulating alpha-feto... OMIM:251880
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome
Hepatic failure ORPHA:3196
Galactosemia I
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Diarrhea, Elevated c... OMIM:230400
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Congestive heart failure, Dilat... ORPHA:367
Autosomal Erythropoietic Protoporphyria
Eczema, Abnormal circulating porphyrin concentration, Decreased liver function, Cirrhosis, Cholel... ORPHA:79278
Infantile Liver Failure Syndrome 3
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Chole... OMIM:618641
Macrophage Activation Syndrome
Hepatomegaly, Increased inflammatory response, Hypertriglyceridemia, Elevated circulating asparta... ORPHA:158061
Lipoyltransferase 1 Deficiency
Elevated hepatic transaminase, Hyperglutaminemia, Hyperprolinemia, Bradycardia, Decreased liver f... OMIM:616299
Familial Hemophagocytic Lymphohistiocytosis
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Maculopapular exanthema, Skin ... ORPHA:540
Wolman Disease
Nausea and vomiting, Hepatomegaly, Splenomegaly, Abdominal distention, Malnutrition, Adrenal insu... ORPHA:75233
Caroli Syndrome
Liver abscess, Cholangitis, Conjugated hyperbilirubinemia, Abnormal intrahepatic bile duct morpho... ORPHA:480520
Neonatal Lupus Erythematosus
Abnormal bleeding, Hepatomegaly, Prolonged QT interval, Elevated hepatic transaminase, Maculopapu... ORPHA:398124
Cog4-Cdg
Elevated hepatic transaminase, Fatal liver failure in infancy, Hepatosplenomegaly, Feeding diffic... ORPHA:263501
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Acute hepatic failure, Prolonged QT interval, Elevated hepatic transaminase, Abnormal circulating... ORPHA:71212
Congenital Disorder Of Glycosylation, Type Ir
Chronic constipation, Gastroesophageal reflux, Decreased liver function OMIM:614507
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Elevated hepatic transaminase, Hypertriglyceridemia, Elevated circulating C-reactive protein conc... ORPHA:158057
Wilson Disease
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Hepat... ORPHA:905
Citrullinemia Type I
Hyperammonemia, Feeding difficulties, Gastroesophageal reflux, Vomiting, Elevated plasma citrulli... ORPHA:247525
Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome
Acute hepatic failure, Hepatic fibrosis, Hepatosplenomegaly ORPHA:466794
Combined Oxidative Phosphorylation Deficiency 1
Fulminant hepatic failure, Hepatomegaly, Cholestasis, Feeding difficulties OMIM:609060
Acyl-Coa Dehydrogenase 9 Deficiency
Acute hepatic failure, Elevated hepatic transaminase, Elevated creatine kinase after exercise, Su... ORPHA:99901
Adult-Onset Still Disease
Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Skin rash, Elevated circulating C-reac... ORPHA:829
Congenital Disorder Of Glycosylation, Type Ib
Abnormal bleeding, Hepatomegaly, Diarrhea, Hepatic fibrosis, Hypoalbuminemia, Cirrhosis, Vomiting... OMIM:602579
Congenital Disorder Of Glycosylation, Type Iih
Interface hepatitis, Elevated serum transaminases during infections, Elevated circulating asparta... OMIM:611182
Congenital Isolated Acth Deficiency
Hyponatremia, Decreased circulating cortisol level, Hyperkalemia, Hepatitis, Adrenocorticotropin ... ORPHA:199296
Infantile Liver Failure Syndrome 1
Acute hepatic failure, Hepatomegaly, Hepatic steatosis, Elevated hepatic transaminase OMIM:615438
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Low plasma citrulline,... OMIM:261680
Autosomal Agammaglobulinemia
Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections, Diarrhea, Hepatitis, Bronchiectas... ORPHA:33110
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Fulminant hepatic failure, Feeding difficulties in infancy, Dilated cardiomyopathy, Hepatic necro... OMIM:231530
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Elevated hepatic transaminase, Granulomatous cholangitis, Cholestasis, Ulcerative colitis, Abnorm... ORPHA:562639
Immunodeficiency 91 And Hyperinflammation
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Membranoproliferative glomeru... OMIM:619644
Cog2-Cdg
Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration, De... ORPHA:435934
Bare Lymphocyte Syndrome, Type Ii
Viral hepatitis, Cholangitis, Biliary tract abnormality, Chronic mucocutaneous candidiasis, Protr... OMIM:209920
Ebola Hemorrhagic Fever
Abnormal bleeding, Gastrointestinal hemorrhage, Acute pancreatitis, Maculopapular exanthema, Poor... ORPHA:319218
Mitochondrial Complex Iv Deficiency, Nuclear Type 22
Elevated hepatic transaminase, Elevated circulating dodecanoylcarnitine concentration, Increased ... OMIM:619355
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... ORPHA:42
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Elevated hepatic transaminase, Hypertyrosinemia, Conjugated hyperbilirubinemia, Microvesicular he... OMIM:617156
Neuroendocrine Tumor Of Stomach
Elevated hepatic transaminase, Hepatomegaly, Nausea and vomiting, Tricuspid regurgitation, Anorex... ORPHA:100075
Carnitine-Acylcarnitine Translocase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Elevated creatine kinase after exercise, Elevated ci... ORPHA:159
Classic Galactosemia
Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating enzyme concentration or activit... ORPHA:79239
Interstitial Lung And Liver Disease
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hypothyroidism, Elev... OMIM:615486
Glycogen Storage Disease Iv
Portal hypertension, Hepatosplenomegaly, Cardiomyopathy, Cirrhosis, Hepatic failure OMIM:232500
Congenital Disorder Of Glycosylation, Type It
Elevated hepatic transaminase, Hepatomegaly, Tachycardia, Elevated circulating aspartate aminotra... OMIM:614921
Congenital Enterovirus Infection
Abnormal bleeding, Skin rash, Myocarditis, Hepatitis, Cholestasis, Hyperammonemia, Cardiomyopathy... ORPHA:292
3-Methylglutaconic Aciduria Type 4
Cardiomyopathy, Decreased liver function ORPHA:67048
Maternal Uniparental Disomy Of Chromosome X
Congestive heart failure, Hepatic failure ORPHA:261519
X-Linked Agammaglobulinemia
Recurrent cutaneous abscess formation, Sinusitis, Osteomyelitis, Skin rash, Recurrent pneumonia, ... ORPHA:47
Bronchial Neuroendocrine Tumor
Hepatomegaly, Tricuspid regurgitation, Pneumonia, Elevated circulating growth hormone concentrati... ORPHA:97287
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease
Hypertension, Decreased liver function, Hepatic cysts OMIM:600666
Drug Reaction With Eosinophilia And Systemic Symptoms
Acute hepatic failure, Elevated hepatic transaminase, Skin rash, Cardiac arrest, Pustule, Myocard... ORPHA:139402
Spinocerebellar Ataxia With Epilepsy
Acute hepatic failure, Hyperalaninemia ORPHA:254881
Crimean-Congo Hemorrhagic Fever
Bundle branch block, Elevated circulating creatine kinase concentration, Anorexia, Hyperhidrosis,... ORPHA:99827
Carnitine Palmitoyltransferase Ii Deficiency
Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulating acylcarnit... ORPHA:157
Congenital Bile Acid Synthesis Defect Type 4
Elevated hepatic transaminase, Giant cell hepatitis, Abnormal circulating enzyme concentration or... ORPHA:79095
Isolated Biliary Atresia
Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Conjugated hyperbilirubinemia, ... ORPHA:30391
Fanconi-Bickel Syndrome
Hepatomegaly, Hypertriglyceridemia, Elevated circulating aspartate aminotransferase concentration... ORPHA:2088
Graft Versus Host Disease
Fasciitis, Myositis, Gastrointestinal inflammation, Vomiting, Acute hepatitis, Nausea, Maculopapu... ORPHA:39812
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Hepatomegaly, Protein avoidance, Hyperammonemia, Hyperornithinemia, Decreased liver function, Acu... OMIM:238970
Mitochondrial Complex I Deficiency, Nuclear Type 20
Elevated hepatic transaminase, Microvesicular hepatic steatosis, Congestive heart failure, Dilate... OMIM:611126
Peroxisome Biogenesis Disorder 12A (Zellweger)
Elevated hepatic transaminase, Patent ductus arteriosus, Elevated circulating long chain fatty ac... OMIM:614886
Immunodeficiency By Defective Expression Of Mhc Class Ii
Recurrent infection of the gastrointestinal tract, Sinusitis, Skin rash, Diarrhea, Acute otitis m... ORPHA:572
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome
Hepatitis, Hypohidrosis ORPHA:363523
Hypermanganesemia With Dystonia 1
Elevated hepatic transaminase, Hepatomegaly, Hypermanganesemia, Increased total iron binding capa... OMIM:613280
Primary Sclerosing Cholangitis
Acute hepatic failure, Spider hemangioma, Uveitis, Hepatic fibrosis, Hypoalbuminemia, Neoplasm of... ORPHA:171
Porphyria Cutanea Tarda
Elevated hepatic transaminase, Viral hepatitis, Abnormal circulating enzyme concentration or acti... ORPHA:101330
Congenital Disorder Of Glycosylation, Type Ih
Hepatomegaly, Abdominal distention, Patent ductus arteriosus, Diarrhea, Elevated circulating crea... OMIM:608104
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbilirubinemia, Int... OMIM:617093
Tyrosinemia, Type I
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Gastrointestinal hemorrhage, ... OMIM:276700
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis, Sclerosing cholangitis, B... OMIM:607626
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, Elevated circulating creatine kinase concentration, Heart block, Elevated circulati... ORPHA:228308
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Acute hepatic failure, Microvesicular hepatic steatosis, Osteomyelitis leading to amputation due ... OMIM:256810
Lysosomal Acid Lipase Deficiency
Microvesicular hepatic steatosis, Hepatic fibrosis, Vomiting, Hyponatremia, Abdominal pain, Hypov... ORPHA:275761
Symptomatic Form Of Hfe-Related Hemochromatosis
Cholangiocarcinoma, Hepatomegaly, Portal hypertension, Abdominal pain, Congestive heart failure, ... ORPHA:465508
Aggressive Systemic Mastocytosis
Gastrointestinal hemorrhage, Maculopapular exanthema, Portal hypertension, Anorexia, Hypersplenis... ORPHA:98850
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Abnormal circulating enzyme concentration or activity, Congestive heart failure, Gastroesophageal... ORPHA:70472
Hereditary Hemorrhagic Telangiectasia
Conjunctival telangiectasia, Gastrointestinal hemorrhage, Transient ischemic attack, Epistaxis, P... ORPHA:774
Congenital Cerebellar Ataxia Due To Rnu12 Mutation
Decreased liver function ORPHA:512260
Griscelli Syndrome
Hepatomegaly, Splenomegaly, Jaundice, Hepatitis, Decreased circulating antibody level, Bone marro... ORPHA:381
Hereditary Fructose Intolerance
Hepatomegaly, Reduced circulating aldolase concentration, Nausea, Abdominal pain, Episodic hyperh... ORPHA:469
Shigellosis
Anorexia, Abnormal blood ion concentration, Uveitis, Bloody diarrhea, Paralytic ileus, Hypovolemi... ORPHA:810
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hepatomegaly, Splenomegaly, Cholestasis, Hepatic fibrosis, Hepatic failure OMIM:615630
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Myositis, Secretory diarrhea, Abnormal blood ion concentration, Tubulointerstitial nephritis, Col... ORPHA:37042
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Elevated hepatic transaminase, Cholestasis, Hepatosplenomegaly, Feeding difficulties, Decreased s... ORPHA:541423
Avian Influenza
Elevated hepatic transaminase, Elevated circulating creatine kinase concentration, Elevated circu... ORPHA:454836
Wolcott-Rallison Syndrome
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Hyponatremia, Jaundice, Hyper... ORPHA:1667
Trichohepatoenteric Syndrome 2
Hepatomegaly, Decreased serum iron, Diarrhea, Chronic diarrhea, Chronic hepatitis, Bloody diarrhe... OMIM:614602
Beta-Thalassemia
Hepatomegaly, Splenomegaly, Hepatitis, Abnormality of iron homeostasis, Cholelithiasis, Hypertrop... ORPHA:848
Alg1-Cdg
Cardiomyopathy, Chronic diarrhea, Hypoalbuminemia, Decreased liver function ORPHA:79327
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hypertriglyceridemia, Hepatitis, Cholestasis, Increased LDL cholesterol concentration, Acute hepa... ORPHA:209902
Lysinuric Protein Intolerance
Decreased HDL cholesterol concentration, Decreased response to growth hormone stimulation test, T... ORPHA:470
Legionnaires Disease
Hyponatremia, Nausea and vomiting, Pericarditis, Anorexia, Abdominal pain, Myocarditis, Jaundice,... ORPHA:549
Cryoglobulinemic Vasculitis
Gastrointestinal hemorrhage, Hepatomegaly, Viral hepatitis, Abdominal pain, Splenomegaly, Vasculi... ORPHA:91138
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Eczema, Glomerulonephritis, Increased circulating IgE level, Chronic diarrhea, Hepatitis, Ileus, ... OMIM:304790
Combined Oxidative Phosphorylation Deficiency 40
Hypertrophic cardiomyopathy, Decreased circulating cortisol level, Decreased liver function, Elev... OMIM:618835
Wilson Disease
Acute hepatic failure, Decreased circulating ceruloplasmin concentration, Osteoarthritis, Hypoalb... OMIM:277900
Combined Oxidative Phosphorylation Deficiency 42
Cardiomyopathy, Decreased circulating cortisol level, Decreased liver function, Elevated circulat... OMIM:618839
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Elevated hepatic transaminase, Hepatomegaly, Protein avoidance, Hepatitis, Hyperammonemia, Feedin... ORPHA:415
Bacterial Toxic-Shock Syndrome
Fasciitis, Sinusitis, Myositis, Elevated circulating creatine kinase concentration, Hypoalbuminem... ORPHA:36234
Multiple Acyl-Coa Dehydrogenase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Elevated circulating creatine ki... ORPHA:26791
Ileal Neuroendocrine Tumor
Elevated hepatic transaminase, Functional intestinal obstruction, Tricuspid stenosis, Right ventr... ORPHA:100078
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Jaundice, Diarrhea, Chronic muc... ORPHA:79124
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency
Vomiting, Decreased liver function OMIM:602199
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Hepatomegaly, Increased circulating ferritin concentration, Jaundice, Splenomegaly, Hepatitis, Ch... OMIM:194380
Peroxisome Biogenesis Disorder 5B
Elevated circulating phytanic acid concentration, Decreased liver function OMIM:614867
Peroxisome Biogenesis Disorder 11A (Zellweger)
Elevated hepatic transaminase, Decreased liver function OMIM:614883
Simple Cryoglobulinemia
Gastrointestinal hemorrhage, Viral hepatitis, Purpura, Pericarditis, Membranoproliferative glomer... ORPHA:91139
Beta-Thalassemia Intermedia
Hypoparathyroidism, Hepatomegaly, Hepatocellular carcinoma, High-output congestive heart failure,... ORPHA:231222
Rift Valley Fever
Abnormal bleeding, Elevated hepatic transaminase, Skin rash, Anorexia, Hematemesis, Jaundice, Hep... ORPHA:319251
Mitochondrial Trifunctional Protein Deficiency
Hypoparathyroidism, Tricuspid regurgitation, Feeding difficulties in infancy, Congestive heart fa... ORPHA:746
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Sinusitis, Decreased response to growth hormone stimulation test, Pneumonia, Enteroviral hepatiti... OMIM:307200
Coenzyme Q10 Deficiency, Primary, 1
Elevated circulating creatine kinase concentration, Dysphagia, Hypertrophic cardiomyopathy, Hepat... OMIM:607426
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Patent ductus arteriosus, Hypertension, Second degree atrioventricular block, Hypoalbuminemia, De... OMIM:617021
Q Fever
Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Osteomyelitis, Maculopapular exanthema... ORPHA:781
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Chronic gastritis, Liver abscess, Cholangitis, Cholecystitis, Decreased circulating IgG level, Ps... ORPHA:183675
Hereditary Amyloidosis With Primary Renal Involvement
Gastrointestinal hemorrhage, Hepatomegaly, Decreased HDL cholesterol concentration, Decreased cir... ORPHA:85450
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Acute hepatic failure, Vomiting, Hyperammonemia, Elevated hepatic transaminase OMIM:615453
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Conjugated hyperbilirubinemia,... OMIM:613404
Trichohepatoenteric Syndrome 1
Aortic regurgitation, Hepatomegaly, Abnormality of the pancreas, Jaundice, Splenomegaly, Cholesta... OMIM:222470
Agammaglobulinemia, X-Linked
Enteroviral hepatitis, Epididymitis, Recurrent pneumonia, Bronchiectasis, Chronic diarrhea, Agamm... OMIM:300755
Melioidosis
Shock, Foot osteomyelitis, Liver abscess, Pneumonia, Abnormality of the spleen, Osteoarthritis, H... ORPHA:31202
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency
Acute hepatic failure, Cholangitis, Portal hypertension, Hypersplenism, Thyroiditis, Hepatitis, H... ORPHA:228426
Transaldolase Deficiency
Hepatomegaly, Splenomegaly, Patent ductus arteriosus, Micronodular cirrhosis, Hepatosplenomegaly,... OMIM:606003
Immunodeficiency 87 And Autoimmunity
Hepatomegaly, Atrophic gastritis, Hypertriglyceridemia, Necrotizing enterocolitis, Elevated circu... OMIM:619573
Aspergillosis
Sinusitis, Osteomyelitis, Pneumonia, Keratitis, Increased circulating IgE level, Hepatitis, Bronc... ORPHA:1163
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Hepatomegaly, Portal hypertension, Gastrostomy tube feeding in infancy, Hypersplenism, Splenomega... OMIM:613385
Developmental And Epileptic Encephalopathy 75
Feeding difficulties in infancy, Cardiomyopathy, Decreased liver function, Prolonged neonatal jau... OMIM:618437
Hardikar Syndrome
Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Vomiting, Intrahepatic bile duct dil... OMIM:301068
Combined Oxidative Phosphorylation Deficiency 37
Elevated hepatic transaminase, Feeding difficulties, Prolonged prothrombin time, Bile duct prolif... OMIM:618329
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Abnormal bleeding, Giant cell hepatitis, Elevated hepatic transaminase, Hepatic melanin-like lyso... OMIM:208085
T-Cell Immunodeficiency With Thymic Aplasia
Recurrent infection of the gastrointestinal tract, Sinusitis, Pneumonia, Hypothyroidism, Atypical... ORPHA:83471
Pseudo-Torch Syndrome 1
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Patent ductus arteriosus, Jaundice, De... OMIM:251290
Autoimmune Polyendocrine Syndrome, Type Ii
Hyperthyroidism, Asplenia, Primary adrenal insufficiency, Hepatitis, Chronic mucocutaneous candid... OMIM:269200
Postinfectious Vasculitis
Elevated circulating C-reactive protein concentration, Anorexia, Gastrointestinal inflammation, U... ORPHA:48435
Malignant Hyperthermia Of Anesthesia
Acute hepatic failure, High-output congestive heart failure, Ventricular tachycardia, Hyperkalemi... ORPHA:423
Serotonin Syndrome
Tachycardia, Diarrhea, Hyperhidrosis, Hypertension, Hypotension, Hepatic failure, Nausea ORPHA:43116
Peroxisome Biogenesis Disorder 8B
Constipation, Elevated circulating phytanic acid concentration, Decreased liver function, Dysphagia OMIM:614877
Late-Onset Isolated Acth Deficiency
Hypoparathyroidism, Hyponatremia, Decreased circulating cortisol level, Orthostatic hypotension, ... ORPHA:199299
Giant Cell Arteritis
Pericarditis, Epistaxis, Sudden cardiac death, Anorexia, Abdominal pain, Vasculitis, Hyperhidrosi... ORPHA:397
Immunodeficiency 82 With Systemic Inflammation
Elevated circulating C-reactive protein concentration, Anorexia, Colitis, Hypoalbuminemia, Vomiti... OMIM:619381
Cirrhosis, Familial
Abdominal distention, Jaundice, Micronodular cirrhosis, Fulminant hepatitis, Biliary cirrhosis, H... OMIM:215600
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hepatomegaly, Splenomegaly, Pancreatic lymphangiectasis, Abdominal distention, Hypocalcemia, Hepa... OMIM:235255
Alstrom Syndrome
Elevated hepatic transaminase, Hepatomegaly, Decreased HDL cholesterol concentration, Chronic act... OMIM:203800
Sepsis In Premature Infants
Abnormal bleeding, Hepatomegaly, Tachycardia, Elevated circulating C-reactive protein concentrati... ORPHA:90051
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1
Recurrent otitis media, Hypertension, Hepatic failure, Feeding difficulties OMIM:619758
Lichen Planopilaris
Hepatitis ORPHA:525
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5
Hepatic failure, Portal hypertension OMIM:619431
Alveolar Echinococcosis
Liver abscess, Cholangitis, Portal hypertension, Abdominal pain, Pancreatic cysts, Jaundice, Abno... ORPHA:284
Familial Mediterranean Fever
Acute hepatic failure, Nausea and vomiting, Pericarditis, Intestinal obstruction, Skin rash, Myoc... ORPHA:342
Farber Disease
Elevated hepatic transaminase, Abnormal circulating enzyme concentration or activity, Intrahepati... ORPHA:333
Exercise-Induced Malignant Hyperthermia
Abnormal bleeding, Anhidrosis, Prolonged QT interval, Elevated circulating creatine kinase concen... ORPHA:466650
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hepatomegaly, Splenomegaly, Pancreatic lymphangiectasis, Abdominal distention, Hepatosplenomegaly... ORPHA:1655
Niemann-Pick Disease, Type C1
Hepatomegaly, Fatal liver failure in infancy, Low cholesterol esterification rate, Splenomegaly, ... OMIM:257220
Zellweger Syndrome
Hepatomegaly, Feeding difficulties in infancy, Jaundice, Primary adrenal insufficiency, Hepatic f... ORPHA:912
Dominant Beta-Thalassemia
Hypoparathyroidism, Hypersplenism, High-output congestive heart failure, Jaundice, Dilated cardio... ORPHA:231226
Aicardi-Goutieres Syndrome 7
Atrophic gastritis, Bloody diarrhea, Hypothyroidism, Hepatic steatosis, Hepatomegaly, Chilblains,... OMIM:615846
Pearson Syndrome
Decreased response to growth hormone stimulation test, Abnormality of the liver, Hypocalcemia, He... ORPHA:699
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Intestinal obstruction, Psoriasiform dermatitis, Enterocolitis, Decreased circulating antibody le... OMIM:243150
Alg3-Cdg
Cardiomyopathy, Feeding difficulties, Decreased liver function, Abnormal circulating enzyme conce... ORPHA:79321
Myasthenia Gravis
Myositis, Hyperthyroidism, Raynaud phenomenon, Primary adrenal insufficiency, Hepatitis, Rheumato... ORPHA:589
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatomegaly, Increased circulating thyroglobulin level, Portal hypertension, Pancreatic cysts, S... OMIM:610199
Autoimmune Polyendocrinopathy Type 4
Atrophic gastritis, Iridocyclitis, Primary adrenal insufficiency, Xerostomia, Biliary cirrhosis, ... ORPHA:227990
Joubert Syndrome With Hepatic Defect
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Feeding difficulties in infancy... ORPHA:1454
Autoimmune Lymphoproliferative Syndrome
Uveitis, Increased circulating IgG level, Colitis, Decreased circulating IgG level, Abnormal blee... ORPHA:3261
Liver Disease, Severe Congenital
Chronic gastritis, Biliary hyperplasia, Abnormal left ventricular function, Vomiting, Hypocalcemi... OMIM:619991
Autoimmune Polyendocrinopathy Type 3
Atrophic gastritis, Autoimmune hypoparathyroidism, Iridocyclitis, Primary adrenal insufficiency, ... ORPHA:227982
Pontocerebellar Hypoplasia, Type 13
Constipation, Decreased liver function, Feeding difficulties OMIM:618606
Leptospirosis
Nausea and vomiting, Hepatomegaly, Pericarditis, Skin rash, First degree atrioventricular block, ... ORPHA:509
Microsporidiosis
Myositis, Sinusitis, Cholangitis, Anorexia, Lymphadenitis, Abnormality of the spleen, Vomiting, N... ORPHA:2552
Pearson Marrow-Pancreas Syndrome
Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Anorexia, Chronic diarrhea, Mac... OMIM:557000
Peroxisome Biogenesis Disorder 6B
Elevated circulating phytanic acid concentration, Decreased liver function, Prolonged neonatal ja... OMIM:614871
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Hypoparathyroidism, Atrophic gastritis, Chronic active hepatitis, Asplenia, Hypothyroidism, Irido... OMIM:240300
Gaucher Disease, Perinatal Lethal
Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Dysphagia, Hepatic failure, Petechiae, Purpura OMIM:608013
Isolated Sedoheptulokinase Deficiency
Cholestasis, Cholestatic liver disease, Hepatitis, Portal hypertension ORPHA:440713
Congenital Disorder Of Glycosylation, Type Iie
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:608779
Chédiak-Higashi Syndrome
Abnormal bleeding, Elevated hepatic transaminase, Hyponatremia, Hypertriglyceridemia, Recurrent b... ORPHA:167
Acute Liver Failure
Abnormal bleeding, Elevated hepatic transaminase, Gastrointestinal hemorrhage, Shock, Skin rash, ... ORPHA:90062
Stevens-Johnson Syndrome
Acute hepatic failure, Elevated hepatic transaminase, Gastrointestinal hemorrhage, Nausea and vom... ORPHA:36426
Leigh Syndrome
Abnormal circulating enzyme concentration or activity, Eczema, Congestive heart failure, Gastroin... ORPHA:506
Combined Oxidative Phosphorylation Deficiency 11
Hepatomegaly, Feeding difficulties, Cardiomyopathy, Decreased liver function, Hepatic steatosis OMIM:614922
Fumarase Deficiency
Necrotizing enterocolitis, Decreased fumarate hydratase activity, Intrahepatic cholestasis, Hyper... OMIM:606812
Zygomycosis
Fasciitis, Sinusitis, Acute infectious pneumonia, Unusual gastrointestinal infection, Colitis, Vo... ORPHA:73263
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Acute hepatic failure, Elevated hepatic transaminase, Hepatomegaly, Microvesicular hepatic steato... OMIM:203700
Igg4-Related Kidney Disease
Elevated circulating C-reactive protein concentration, Lymphadenitis, Decreased retinol-binding p... ORPHA:449395
Mitochondrial Dna-Associated Leigh Syndrome
Hepatomegaly, Cardiac conduction abnormality, Abnormality of Krebs cycle metabolism, Dilated card... ORPHA:255210
Mccune-Albright Syndrome
Hyperthyroidism, Elevated circulating growth hormone concentration, Hepatitis, Cholestasis, Hepat... ORPHA:562
Chronic Visceral Acid Sphingomyelinase Deficiency
Abnormal bleeding, Hepatomegaly, Decreased HDL cholesterol concentration, Abnormal circulating li... ORPHA:77293
Osteopetrosis, Autosomal Recessive 5
Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Hypocalcemia, Hyperbilirubinemia, Hepatic failure OMIM:259720
Tarp Syndrome
Hepatic failure, Subdural hemorrhage OMIM:311900
Spondyloenchondrodysplasia
Skin rash, Decreased response to growth hormone stimulation test, Pneumonia, Raynaud phenomenon, ... ORPHA:1855
Toxic Epidermal Necrolysis
Acute hepatic failure, Gastrointestinal hemorrhage, Elevated hepatic transaminase, Nausea and vom... ORPHA:537
Idiopathic Hypereosinophilic Syndrome
Cholangitis, Pulmonary embolism, Feeding difficulties in infancy, Intracranial hemorrhage, Coliti... ORPHA:3260
Kawasaki Disease
Nausea and vomiting, Pericarditis, Skin rash, Abdominal pain, Congestive heart failure, Jaundice,... ORPHA:2331
Chronic Mucocutaneous Candidiasis
Feeding difficulties in infancy, Cheilitis, Skin rash, Hepatitis ORPHA:1334
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Hepatomegaly, Vomiting, Decreased liver function, Diffuse hepatic steatosis, Hypertrophic cardiom... ORPHA:436271
Dyskeratosis Congenita
Neoplasm of the pancreas, Hepatomegaly, Telangiectasia of the skin, Splenomegaly, Hyperhidrosis, ... ORPHA:1775
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Hepatomegaly, Seborrheic dermatitis, Splenomegaly, Micronodular cirrhosis, Aspiration pneumonia, ... OMIM:301072
Lathosterolosis
Hepatomegaly, Hepatic failure, Intrahepatic cholestasis ORPHA:46059
Trichohepatoneurodevelopmental Syndrome
Hepatomegaly, Splenomegaly, Patent ductus arteriosus, Chronic diarrhea, Feeding difficulties, Ele... OMIM:618268
Lujo Hemorrhagic Fever
Elevated circulating C-reactive protein concentration, Fulminant hepatitis, Odynophagia, Hyperhid... ORPHA:319213
Alagille Syndrome 1
Elevated hepatic transaminase, Hypertriglyceridemia, Hepatocellular carcinoma, Cholestasis, Reduc... OMIM:118450
Myoclonic Epilepsy Of Lafora
Hepatic failure OMIM:254780
Relapsing Polychondritis
Episcleritis, Pericarditis, Chondritis of pinna, Keratitis, Myocarditis, Hepatitis, Large vessel ... ORPHA:728
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Elevated hepatic transaminase, Hypertyrosinemia, Decreased mitochondrial complex III activity in ... OMIM:124000
Mitochondrial Complex I Deficiency, Nuclear Type 1
Hepatomegaly, Feeding difficulties in infancy, Splenomegaly, Concentric hypertrophic cardiomyopat... OMIM:252010
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Inflammatory abnormality of the skin, Eczema, Congestive heart failure, Diarrhea, Hepatitis, Reno... ORPHA:391487
Mucopolysaccharidosis Type 7
Splenomegaly, Hepatitis ORPHA:584
Peroxisome Biogenesis Disorder 4B
Hepatomegaly, Adrenal insufficiency, Decreased liver function OMIM:614863
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Hepatomegaly, Increased hepatocellular lipid droplets, Decreased liver function, Hypertrophic car... OMIM:220110
Primary Sjögren Syndrome
Myositis, Chronic active hepatitis, Glomerulonephritis, Lymphocytic interstitial pneumonia, Rayna... ORPHA:289390
Gaucher Disease
Abnormal bleeding, Hepatomegaly, Osteomyelitis, Elevated circulating C-reactive protein concentra... ORPHA:355
Cranioectodermal Dysplasia 1
Hepatomegaly, Malformation of the hepatic ductal plate, Tubulointerstitial nephritis, Hepatic fib... OMIM:218330
Acute Disseminated Encephalomyelitis
Viral hepatitis, Herpes simplex encephalitis, Optic neuritis, Vomiting, Nausea, Myelitis ORPHA:83597
Sarcoidosis
Hepatomegaly, Abnormal cardiac ventricular function, Hyperthyroidism, Maculopapular exanthema, Hy... ORPHA:797
Focal Dermal Hypoplasia
Acute hepatic failure, Telangiectasia of the skin, Abdominal pain, Patent ductus arteriosus, Gast... ORPHA:2092
Combined Immunodeficiency-Enteropathy Spectrum
Psoriasiform dermatitis, Abdominal distention, Hepatitis, Bloody diarrhea, Abnormal ductus choled... ORPHA:436252
Rajab Interstitial Lung Disease With Brain Calcifications 1
Elevated hepatic transaminase, Portal hypertension, Cholestasis, Feeding difficulties, Bile duct ... OMIM:613658
Niemann-Pick Disease Type C
Hepatomegaly, Low cholesterol esterification rate, Splenomegaly, Jaundice, Hepatosplenomegaly, Fe... ORPHA:646
Lafora Disease
Hepatic failure, Recurrent aspiration pneumonia, Nasogastric tube feeding ORPHA:501
Johanson-Blizzard Syndrome
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Portal hypertension,... OMIM:243800
Occipital Horn Syndrome
Gastroparesis, Jaundice, Hepatitis, Cholestasis, Gastroesophageal reflux, Esophagitis, Dysphagia,... ORPHA:198
Alström Syndrome
Decreased response to growth hormone stimulation test, Hepatic fibrosis, Elevated gamma-glutamylt... ORPHA:64

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 Faim

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 Faim.

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

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Faimtm2e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Faimtm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Faimtm2a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Faimtm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Faimtm115316(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Faimtm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

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