KEGG   DISEASE: Familial hypercholanemia
Entry
H01935                      Disease                                
Name
Familial hypercholanemia
Description
Familial hypercholanemia is characterized by elevated serum bile acid concentrations, itching, and fat malabsorption. Mutations in EPHX1, TJP2, and BAAT may disrupt bile acid transport and circulation.
Category
Inherited metabolic disorder
Brite
Human diseases in ICD-11 classification [BR:br08403]
 13 Diseases of the digestive system
  Diseases of small intestine
   DA96  Intestinal malabsorption or protein-losing enteropathy
    H01935  Familial hypercholanemia
Pathway
hsa04976  Bile secretion
hsa04530  Tight junction
hsa00120  Primary bile acid biosynthesis
Gene
(FHCA1) TJP2 [HSA:9414] [KO:K06098]
(FHCA1) BAAT [HSA:570] [KO:K00659]
(FHCA2) SLC10A1 [HSA:6554] [KO:K14341]
Other DBs
ICD-11: DA96.02
MeSH: C564336
OMIM: 607748 619256
Reference
PMID:12704386 (TJP2 BAAT)
  Authors
Carlton VE, Harris BZ, Puffenberger EG, Batta AK, Knisely AS, Robinson DL, Strauss KA, Shneider BL, Lim WA, Salen G, Morton DH, Bull LN
  Title
Complex inheritance of familial hypercholanemia with associated mutations in TJP2 and BAAT.
  Journal
Nat Genet 34:91-6 (2003)
DOI:10.1038/ng1147
Reference
PMID:29290974 (SLC10A1)
  Authors
Qiu JW, Deng M, Cheng Y, Atif RM, Lin WX, Guo L, Li H, Song YZ
  Title
Sodium taurocholate cotransporting polypeptide (NTCP) deficiency: Identification of a novel SLC10A1 mutation in two unrelated infants presenting with neonatal indirect hyperbilirubinemia and remarkable hypercholanemia.
  Journal
Oncotarget 8:106598-106607 (2017)
DOI:10.18632/oncotarget.22503
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