Details of Disease | DrugMAP

General Information of Disease (ID: DISBJ6T5)

Disease Name	Hereditary North American Indian childhood cirrhosis
Synonyms	NORTH American Indian childhood cirrhosis; NAIC
Definition	Hereditary North American Indian childhood cirrhosis is a severe autosomal recessive intrahepatic cholestasis that has only been described in aboriginal children from northwestern Quebec. Manifesting first as transient neonatal jaundice, the disease evolves into periportal fibrosis and cirrhosis during a period ranging from childhood to adolescence.
Disease Hierarchy	DIS3J8HT: Progressive familial intrahepatic cholestasis DISBJ6T5: Hereditary North American Indian childhood cirrhosis
Disease Identifiers	MONDO ID MONDO_0011497 UMLS CUI C1858051 OMIM ID 604901 MedGen ID 387974 Orphanet ID 168583 SNOMED CT ID 699189004

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 3 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
UTP4	OTVAJOH3	Supportive	Autosomal recessive	[1]
EMG1	OTFDX7HY	Strong	Biomarker	[2]
NOL11	OTRV6LXB	Strong	Biomarker	[3]
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References

1	A missense mutation (R565W) in cirhin (FLJ14728) in North American Indian childhood cirrhosis. Am J Hum Genet. 2002 Dec;71(6):1443-9. doi: 10.1086/344580. Epub 2002 Nov 4.
2	Human diseases of the SSU processome.Biochim Biophys Acta. 2014 Jun;1842(6):758-64. doi: 10.1016/j.bbadis.2013.11.004. Epub 2013 Nov 12.
3	NOL11, implicated in the pathogenesis of North American Indian childhood cirrhosis, is required for pre-rRNA transcription and processing.PLoS Genet. 2012;8(8):e1002892. doi: 10.1371/journal.pgen.1002892. Epub 2012 Aug 16.