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Gene: Slc43a2 MGI:2442746

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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:
solute carrier family 43, member 2
Synonyms:
7630402D21Rik

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 Slc43a2 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 Slc43a2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Glycogen Storage Disease Vi
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Failure to thriv... OMIM:232700
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Hepatomegaly, Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Elevat... OMIM:615158
Preeclampsia
Elevated hepatic transaminase, Increased body mass index, Small for gestational age, Elevated cir... ORPHA:275555
Combined Oxidative Phosphorylation Deficiency 34
Hepatomegaly, Failure to thrive, Hypoglycemia, Elevated circulating creatinine concentration, Vom... OMIM:617872
Bile Acid Synthesis Defect, Congenital, 3
Hepatomegaly, Failure to thrive, Elevated circulating aspartate aminotransferase concentration, H... OMIM:613812
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Hepatomegaly, Decreased liver function, Acute hepatitis, Failure to thrive, Episodic vomiting, Ho... OMIM:238970
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Jaundice, Aminoaciduria, Chole... OMIM:613404
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Short stature, Recurrent skin infections, Growth delay, Decreased serum creatinine, Intrauterine ... OMIM:617744
Lymphoproliferative Syndrome, X-Linked, 2
Hepatomegaly, Hypertriglyceridemia, Acne, Recurrent skin infections, Erythema nodosum, Splenomega... OMIM:300635
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Elevated hepatic transaminase, Giant cell hepatitis, Small for gestational age, Hepatic melanin-l... OMIM:208085
Complement Component C1S Deficiency
Hepatitis, Hashimoto thyroiditis OMIM:613783
Hypertriglyceridemia, Transient Infantile
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Short stature, Splenomegaly, V... OMIM:614480
Wilson Disease
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Hepat... ORPHA:905
Bile Acid Synthesis Defect, Congenital, 1
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Failure to thrive, Intrahepati... OMIM:607765
Congenital Bile Acid Synthesis Defect Type 2
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Abnormal circulating enzyme co... ORPHA:79303
Dietary Iron Overload Disease
Hepatomegaly, Viral hepatitis, Diabetes mellitus, Hepatocellular carcinoma, Peritonitis, Micronod... ORPHA:139507
Congenital Disorder Of Glycosylation, Type It
Elevated hepatic transaminase, Hepatomegaly, Short stature, Hypoglycemia, Elevated circulating as... OMIM:614921
Trichohepatoenteric Syndrome 2
Hepatomegaly, Small for gestational age, Diarrhea, Chronic diarrhea, Bloody diarrhea, Chronic hep... OMIM:614602
Hepatocellular Carcinoma
Hepatocellular carcinoma, Micronodular cirrhosis, Subacute progressive viral hepatitis OMIM:114550
Hepatitis, Fulminant Viral, Susceptibility To
Elevated hepatic transaminase, Hepatomegaly, Hashimoto thyroiditis, Jaundice, Fulminant hepatitis... OMIM:618549
Autosomal Agammaglobulinemia
Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections, Diarrhea, Bronchiectasis, Dehydra... ORPHA:33110
Bacterial Toxic-Shock Syndrome
Fasciitis, Sinusitis, Myositis, Pneumonia, Edema, Osteomyelitis, Skin rash, Glomerulonephritis, D... ORPHA:36234
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Recurrent otitis media, Splenomegaly, Hepatitis ORPHA:444463
Diarrhea 13
Elevated hepatic transaminase, Secretory diarrhea, Recurrent hypoglycemia, Vomiting, Failure to t... OMIM:620357
Congenital Disorder Of Glycosylation, Type Ih
Hepatomegaly, Failure to thrive, Edema, Diarrhea, Elevated circulating creatinine concentration, ... OMIM:608104
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Hyperglycinuria, Vomiting, Hepatic ste... OMIM:201450
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Short stature, Hypoglycemia, Hepa... ORPHA:369
Coenzyme Q10 Deficiency, Primary, 8
Small for gestational age, Postnatal growth retardation, Elevated circulating creatinine concentr... OMIM:616733
Complement Component 4B Deficiency
Chronic active hepatitis, Chronic diarrhea, Recurrent pneumonia, Recurrent sinusitis, Recurrent o... OMIM:614379
Congenital Disorder Of Glycosylation, Type Iih
Interface hepatitis, Elevated serum transaminases during infections, Failure to thrive in infancy... OMIM:611182
Autoimmune Hepatitis
Gastrointestinal hemorrhage, Elevated hepatic transaminase, Viral hepatitis, Diffuse hepatic stea... ORPHA:2137
Isolated Sedoheptulokinase Deficiency
Short stature, Portal hypertension, Hepatitis, Cholestasis, Severe postnatal growth retardation, ... ORPHA:440713
X-Linked Agammaglobulinemia
Recurrent cutaneous abscess formation, Sinusitis, Short stature, Osteomyelitis, Skin rash, Chroni... ORPHA:47
Alpha-1-Antitrypsin Deficiency
Hepatomegaly, Jaundice, Hepatic failure, Hepatitis ORPHA:60
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Elevated hepatic transaminase, Short stature, Hyperlipidemia, Hyperinsulinemia, Obesity, Hypergly... ORPHA:329249
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypertyrosinemia, Elevated hepatic transaminase, Failure to thrive, Hypoglycemia, Polyhydramnios,... OMIM:617156
Graft Versus Host Disease
Elevated hepatic transaminase, Fasciitis, Myositis, Maculopapular exanthema, Pneumonia, Inflammat... ORPHA:39812
Bile Acid Synthesis Defect, Congenital, 4
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Failure to thrive, Elevated ci... OMIM:214950
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Hypoglycemia, Portal hypertension... OMIM:251880
Congenital Isolated Acth Deficiency
Decreased circulating cortisol level, Hepatitis, Hypoglycemic seizures, Prolonged neonatal jaundi... ORPHA:199296
Coach Syndrome 2
Elevated hepatic transaminase, Congenital hepatic fibrosis, Elevated circulating creatinine conce... OMIM:619111
Griscelli Syndrome
Encephalocele, Hepatomegaly, Short stature, Splenomegaly, Jaundice, Hepatitis, Pedal edema, Ascites ORPHA:381
Fanconi-Bickel Syndrome
Hepatomegaly, Failure to thrive, Diabetes mellitus, Impaired glucose tolerance, Elevated circulat... ORPHA:2088
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Pneumonia, Diarrhea, Recurrent pneumonia, Hepatitis, Erythroderma, Hepatosplenomegaly, Protracted... ORPHA:169160
Wilson Disease
Acute hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentratio... OMIM:277900
Interstitial Nephritis, Karyomegalic
Elevated hepatic transaminase, Tubulointerstitial nephritis, Elevated circulating creatinine conc... OMIM:614817
Drug Reaction With Eosinophilia And Systemic Symptoms
Acute hepatic failure, Elevated hepatic transaminase, Skin rash, Pustule, Myocarditis, Angioedema... ORPHA:139402
Macrophage Activation Syndrome
Hepatomegaly, Increased inflammatory response, Hypertriglyceridemia, Elevated circulating asparta... ORPHA:158061
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Eczema, Glomerulonephritis, Chronic diarrhea, Ileus, Hepatitis, Arthritis, Erythroderma, Type I d... OMIM:304790
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Hepatomegaly, Short stature, Failure to thrive in infancy, Portal hypertension, Hypersplenism, Sp... OMIM:613385
Congenital Bile Acid Synthesis Defect Type 4
Elevated hepatic transaminase, Giant cell hepatitis, Abnormal circulating enzyme concentration or... ORPHA:79095
Histidinemia
Histidinuria, Hyperhistidinemia ORPHA:2157
Immunodeficiency 56
Failure to thrive, Cholangitis, Chronic diarrhea, Recurrent pneumonia, Bronchiectasis, Cirrhosis,... OMIM:615207
Primary Sclerosing Cholangitis
Acute hepatic failure, Uveitis, Hepatic fibrosis, Neoplasm of the gallbladder, Elevated alkaline ... ORPHA:171
Thrombotic Thrombocytopenic Purpura
Decreased serum creatinine, Diarrhea, Abnormal lactate dehydrogenase level ORPHA:54057
Glycogen Storage Disease Ixc
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Postnatal growth... OMIM:613027
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Short stature, Hypoglycemia, Larg... OMIM:616026
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Myositis, Secretory diarrhea, Tubulointerstitial nephritis, Colitis, Vomiting, Psoriasiform derma... ORPHA:37042
Porphyria Cutanea Tarda
Elevated hepatic transaminase, Recurrent bacterial skin infections, Viral hepatitis, Diabetes mel... ORPHA:101330
Fanconi Renotubular Syndrome 3
Short stature, Elevated circulating creatinine concentration, Growth delay, Aminoaciduria, Glycos... OMIM:615605
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Intrauterine growth retardation, Elevated circulating creatinine concentration, Short stature, Gout OMIM:617056
Citrullinemia, Type Ii, Neonatal-Onset
Hypertyrosinemia, Hypertriglyceridemia, Elevated circulating aspartate aminotransferase concentra... OMIM:605814
Adult-Onset Still Disease
Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Skin rash, Splenomegaly, Myocarditis, ... ORPHA:829
Congenital Enterovirus Infection
Skin rash, Fetal ascites, Polyhydramnios, Pericardial effusion, Myocarditis, Hydrops fetalis, Hep... ORPHA:292
Histidinemia
Histidinuria, Hyperhistidinemia OMIM:235800
Cholestasis-Lymphedema Syndrome
Elevated hepatic transaminase, Hepatomegaly, Lymphedema, Splenomegaly, Jaundice, Hyperlipidemia, ... OMIM:214900
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment
Severe short stature, Elevated circulating creatinine concentration OMIM:242530
Avian Influenza
Elevated hepatic transaminase, Pneumonia, Diarrhea, Hepatitis, Conjunctivitis, Vomiting, Increase... ORPHA:454836
Alstrom Syndrome
Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Chronic active hepatitis, Short s... OMIM:203800
Glycogen Storage Disease Ixa1
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Gr... OMIM:306000
Microsporidiosis
Myositis, Sinusitis, Cholangitis, Abnormality of the spleen, Lymphadenitis, Dehydration, Vomiting... ORPHA:2552
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Elevated hepatic transaminase, Short stature, Ketotic hypoglycemia, Hyperlipidemia, Glycosuria, P... ORPHA:2089
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency
Acute hepatic failure, Failure to thrive in infancy, Cholangitis, Portal hypertension, Hypersplen... ORPHA:228426
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Acute hepatic failure, Elevated hepatic transaminase, Proportionate short stature, Increased circ... ORPHA:71212
Immunodeficiency With Hyper-Igm, Type 1
Hepatomegaly, Failure to thrive, Splenomegaly, Diarrhea, Hepatitis, Chronic hepatitis, Sclerosing... OMIM:308230
Cerebral Creatine Deficiency Syndrome 2
Decreased serum creatinine, Episodic vomiting OMIM:612736
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hypertriglyceridemia, Hepatitis, Cholestasis, Obesity, Acute hepatic steatosis, Cholesterol galls... ORPHA:209902
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatomegaly, Diabetes mellitus, Portal hypertension, Pancreatic cysts, Splenomegaly, Hepatitis, ... OMIM:610199
Q Fever
Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Osteomyelitis, Maculopapular exanthema... ORPHA:781
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome
Hepatitis ORPHA:363523
Late-Onset Isolated Acth Deficiency
Decreased circulating cortisol level, Hypoglycemia, Diarrhea, Hepatitis, Weight loss, Constipatio... ORPHA:199299
Tyrosinemia, Type I
Gastrointestinal hemorrhage, Hypertyrosinemia, Acute hepatic failure, Hepatomegaly, Hypoglycemia,... OMIM:276700
Aicardi-Goutieres Syndrome 7
Hepatomegaly, Atrophic gastritis, Skin rash, Chilblains, Edema, Pneumonia, Pericardial effusion, ... OMIM:615846
Aspergillosis
Sinusitis, Osteomyelitis, Pneumonia, Keratitis, Bronchiectasis, Hepatitis, Pleural effusion, Infe... ORPHA:1163
Dominant Beta-Thalassemia
Diabetes mellitus, Failure to thrive in infancy, Hepatocellular carcinoma, Hypersplenism, Splenom... ORPHA:231226
Primary Biliary Cholangitis
Portal hypertension, Jaundice, Hepatic failure, Biliary cirrhosis, Hepatitis, Gastrointestinal in... ORPHA:186
Autoimmune Polyendocrine Syndrome, Type Ii
Asplenia, Hepatitis, Chronic mucocutaneous candidiasis, Chronic hepatitis, Keratoconjunctivitis, ... OMIM:269200
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Increased body weight, Vomiting, Hepatic fibrosis, Fasting hypoglycemia, Hepatic steatosis, Nause... ORPHA:264580
Car T Cell Therapy-Associated Cytokine Release Syndrome
Elevated hepatic transaminase, Increased inflammatory response, Skin rash, Diarrhea, Elevated cir... ORPHA:542323
Low Phospholipid-Associated Cholelithiasis
Elevated hepatic transaminase, Diabetes mellitus, Liver abscess, Cholangitis, Hypercholesterolemi... ORPHA:69663
Bare Lymphocyte Syndrome, Type Ii
Viral hepatitis, Cholangitis, Biliary tract abnormality, Chronic mucocutaneous candidiasis, Protr... OMIM:209920
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Intestinal obstruction, Psoriasiform dermatitis, Polyhydramnios, Enterocolitis, Bloody diarrhea, ... OMIM:243150
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis
Elevated hepatic transaminase, Increased circulating lactate dehydrogenase concentration, Elevate... OMIM:620138
Osteopetrosis, Autosomal Recessive 9
Postnatal growth retardation, Elevated circulating alkaline phosphatase concentration, Elevated c... OMIM:620366
Combined Immunodeficiency-Enteropathy Spectrum
Psoriasiform dermatitis, Polyhydramnios, Hepatitis, Bloody diarrhea, Type I diabetes mellitus, In... ORPHA:436252
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating enzyme concentration or activit... ORPHA:79240
Beta-Thalassemia
Splenomegaly, Hepatomegaly, Cholelithiasis, Hepatitis ORPHA:848
Zygomycosis
Fasciitis, Sinusitis, Periorbital edema, Acute infectious pneumonia, Colitis, Vomiting, Infectiou... ORPHA:73263
Legionnaires Disease
Pericarditis, Splenomegaly, Diarrhea, Jaundice, Myocarditis, Hepatitis, Endocarditis, Infectious ... ORPHA:549
Ebola Hemorrhagic Fever
Gastrointestinal hemorrhage, Acute pancreatitis, Maculopapular exanthema, Diarrhea, Hepatitis, Me... ORPHA:319218
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Elevated hepatic transaminase, Granulomatous cholangitis, Ulcerative colitis, Cholestasis, Abnorm... ORPHA:562639
Mucopolysaccharidosis Type 7
Lymphedema, Splenomegaly, Hydrops fetalis, Hepatitis, Umbilical hernia, Ascites ORPHA:584
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Chronic gastritis, Viral hepatitis, Diabetes mellitus, Liver abscess, Cholangitis, Psoriasiform d... ORPHA:183675
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Acute hepatic failure, Elevated hepatic transaminase, Hypoglycemia, Dehydration, Growth delay, Vo... OMIM:615453
Bile Acid Synthesis Defect, Congenital, 2
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Intrahepatic cholestasis, Diarrhe... OMIM:235555
Tyrosinemia, Type Iii
Hypertyrosinemia, Elevated hepatic transaminase OMIM:276710
Dopamine Beta-Hydroxylase Deficiency
Hypoglycemia, Insulin resistance, Diarrhea, Elevated circulating creatinine concentration, Hyperi... ORPHA:230
Immunodeficiency By Defective Expression Of Mhc Class Ii
Sinusitis, Skin rash, Diarrhea, Acute otitis media, Chronic mucocutaneous candidiasis, Protracted... ORPHA:572
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Sinusitis, Short stature, Pneumonia, Enteroviral hepatitis, Diarrhea, Epididymitis, Prostatitis, ... OMIM:307200
Cryoglobulinemic Vasculitis
Gastrointestinal hemorrhage, Hepatomegaly, Viral hepatitis, Splenomegaly, Arthritis, Abnormality ... ORPHA:91138
Myasthenia Gravis
Myositis, Hepatitis, Dysphagia, Rheumatoid arthritis, Glycosuria, Hashimoto thyroiditis ORPHA:589
Hereditary Arterial And Articular Multiple Calcification Syndrome
Decreased serum creatinine ORPHA:289601
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Gastrointestinal hemorrhage, Hypertyrosinemia, Hepatomegaly, Increased circulating lactate dehydr... ORPHA:247598
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Atrophic gastritis, Chronic active hepatitis, Asplenia, Iridocyclitis, Diarrhea, Chronic mucocuta... OMIM:240300
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Inflammatory abnormality of the skin, Short stature, Eczema, Diarrhea, Enterocolitis, Bronchiecta... ORPHA:391487
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Hypertyrosinemia, Elevated hepatic transaminase, Hypoglycemia, Cholangitis, Microvesicular hepati... OMIM:124000
Melioidosis
Foot osteomyelitis, Liver abscess, Pneumonia, Abnormality of the spleen, Osteoarthritis, Hepatiti... ORPHA:31202
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Hepatitis, Decreased liver functi... ORPHA:415
Cholestasis, Progressive Familial Intrahepatic, 3
Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis, Diarrhea, Jaundice, Spleno... OMIM:602347
Autoimmune Polyendocrinopathy Type 4
Atrophic gastritis, Iridocyclitis, Xerostomia, Biliary cirrhosis, Hepatitis, Chronic mucocutaneou... ORPHA:227990
Acute Disseminated Encephalomyelitis
Viral hepatitis, Herpes simplex encephalitis, Cerebral edema, Vomiting, Optic neuritis, Nausea, M... ORPHA:83597
Lichen Planopilaris
Hepatitis ORPHA:525
Idiopathic Hypereosinophilic Syndrome
Elevated hepatic transaminase, Inflammatory abnormality of the skin, Cholangitis, Eczema, Splenom... ORPHA:3260
Autoimmune Polyendocrinopathy Type 3
Atrophic gastritis, Iridocyclitis, Xerostomia, Biliary cirrhosis, Hepatitis, Chronic mucocutaneou... ORPHA:227982
Rift Valley Fever
Elevated hepatic transaminase, Skin rash, Hematemesis, Jaundice, Hepatitis, Uveitis, Macular edem... ORPHA:319251
Spondyloenchondrodysplasia
Short stature, Pneumonia, Skin rash, Disproportionate short-trunk short stature, Hepatitis, Arthr... ORPHA:1855
Acute Liver Failure
Gastrointestinal hemorrhage, Elevated hepatic transaminase, Hypoglycemia, Skin rash, Diarrhea, Ja... ORPHA:90062
Budd-Chiari Syndrome
Gastrointestinal hemorrhage, Hepatomegaly, Intestinal obstruction, Elevated hepatic transaminase,... ORPHA:131
Fructose Intolerance, Hereditary
Gastrointestinal hemorrhage, Transient aminoaciduria, Hepatomegaly, Elevated hepatic transaminase... OMIM:229600
T-Cell Immunodeficiency With Thymic Aplasia
Failure to thrive, Sinusitis, Pneumonia, Diarrhea, Atypical or prolonged hepatitis, Thyroiditis, ... ORPHA:83471
Mccune-Albright Syndrome
Hepatocellular adenoma, Hepatitis, Cholestasis, Increased circulating cortisol level, Gastroesoph... ORPHA:562
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Hepatomegaly, Splenomegaly, Jaundice, Hepatitis, Cholelithiasis OMIM:194380
Immunodeficiency 82 With Systemic Inflammation
Osteomyelitis, Gastritis, Pneumonia, Skin rash, Recurrent skin infections, Splenomegaly, Diarrhea... OMIM:619381
Kawasaki Disease
Pericarditis, Skin rash, Edema, Myocarditis, Diarrhea, Jaundice, Hepatitis, Cheilitis, Arthritis,... ORPHA:2331
Renal Cysts And Diabetes Syndrome
Elevated hepatic transaminase, Diabetes mellitus, Impaired glucose tolerance, Maturity-onset diab... OMIM:137920
Isolated Biliary Atresia
Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Atretic gallbladder, Sple... ORPHA:30391
Simple Cryoglobulinemia
Gastrointestinal hemorrhage, Viral hepatitis, Pericarditis, Membranoproliferative glomerulonephri... ORPHA:91139
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Decreased serum creatinine OMIM:300539
Autoimmune Lymphoproliferative Syndrome
Hepatomegaly, Gastritis, Glomerulonephritis, Hypersplenism, Splenomegaly, Hydrops fetalis, Uveiti... ORPHA:3261
Chronic Mucocutaneous Candidiasis
Cheilitis, Skin rash, Hepatitis ORPHA:1334
Parenteral Nutrition-Associated Cholestasis
Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Portal hypertension, Bili... ORPHA:567983
Gallbladder Disease 1
Elevated hepatic transaminase, Cholangitis, Portal inflammation, Jaundice, Cholestasis, Elevated ... OMIM:600803
Relapsing Polychondritis
Episcleritis, Pericarditis, Chondritis of pinna, Keratitis, Myocarditis, Hepatitis, Uveitis, Scle... ORPHA:728
Lujo Hemorrhagic Fever
Elevated hepatic transaminase, Maculopapular exanthema, Skin rash, Facial edema, Periorbital edem... ORPHA:319213
Agammaglobulinemia, X-Linked
Enteroviral hepatitis, Prostatitis, Chronic diarrhea, Epididymitis, Bronchiectasis, Recurrent pne... OMIM:300755
Gaucher Disease
Hepatomegaly, Osteomyelitis, Short stature, Splenomegaly, Osteoarthritis, Hydrops fetalis, Hepati... ORPHA:355
Lymphoproliferative Syndrome, X-Linked, 1
Hepatomegaly, Splenomegaly, Fulminant hepatitis, Hepatic failure, Infectious encephalitis OMIM:308240
Postinfectious Vasculitis
Viral hepatitis, Inflammatory abnormality of the skin, Membranoproliferative glomerulonephritis, ... ORPHA:48435
Primary Sjögren Syndrome
Myositis, Chronic active hepatitis, Glomerulonephritis, Lymphocytic interstitial pneumonia, Eryth... ORPHA:289390
Leptospirosis
Hepatomegaly, Pericarditis, Skin rash, Diarrhea, Jaundice, Hepatitis, Uveitis, Optic neuritis, El... ORPHA:509
Cirrhosis, Familial
Jaundice, Micronodular cirrhosis, Fulminant hepatitis, Biliary cirrhosis, Cirrhosis, Ascites OMIM:215600
Occipital Horn Syndrome
Gastroparesis, Jaundice, Hepatitis, Cholestasis, Gastroesophageal reflux, Esophagitis, Dysphagia ORPHA:198
Alström Syndrome
Gastroesophageal reflux, Hepatic fibrosis, Otitis media, Elevated gamma-glutamyltransferase level... 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 Slc43a2

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 Slc43a2.

No publications found that use IMPC mice or data for Slc43a2.

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MGI Allele Allele Type Produced
Slc43a2tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells

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