KEGG   DISEASE: North American Indian childhood cirrhosis
Entry
H02194                      Disease                                
Name
North American Indian childhood cirrhosis
Description
North American Indian childhood cirrhosis (NAIC) is a severe autosomal-recessive intrahepatic cholestasis found in aboriginal children from northwestern Quebec. It typically presents with transient neonatal jaundice, in a child who is otherwise healthy, and progresses to biliary cirrhosis and portal hypertension. It has reported that a missense mutation in Cirhin causes NAIC. Cirhin/UTP4 is known to be required for ribosome biogenesis.
Category
Digestive system disease
Brite
Human diseases in ICD-11 classification [BR:br08403]
 13 Diseases of the digestive system
  Diseases of liver
   DB93  Hepatic fibrosis or cirrhosis
    H02194  North American Indian childhood cirrhosis
Pathway
hsa03008  Ribosome biogenesis in eukaryotes
Gene
CIRH1A [HSA:84916] [KO:K14548]
Other DBs
ICD-11: DB93.20
ICD-10: K74.6
OMIM: 604901
Reference
PMID:11045837
  Authors
Drouin E, Russo P, Tuchweber B, Mitchell G, Rasquin-Weber A
  Title
North American Indian cirrhosis in children: a review of 30 cases.
  Journal
J Pediatr Gastroenterol Nutr 31:395-404 (2000)
DOI:10.1097/00005176-200010000-00013
Reference
PMID:12417987
  Authors
Chagnon P, Michaud J, Mitchell G, Mercier J, Marion JF, Drouin E, Rasquin-Weber A, Hudson TJ, Richter A
  Title
A missense mutation (R565W) in cirhin (FLJ14728) in North American Indian childhood cirrhosis.
  Journal
Am J Hum Genet 71:1443-9 (2002)
DOI:10.1086/344580

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Disease (1)   
   OMIM (1)   
Gene (2)   
   KEGG ORTHOLOGY (1)   
   KEGG GENES (1)   
Literature (2)   
   PubMed (2)   
All databases (5)   

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