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North american indian childhood cirrhosis(NAIC)

MedGen UID:
387974
Concept ID:
C1858051
Disease or Syndrome
Synonyms: NAIC
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Sources: HPO, OMIM, Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal recessive inheritance (HPO, OMIM, Orphanet)
SNOMED CT: North American Indian childhood cirrhosis (699189004); NAIC - North American Indian childhood cirrhosis (699189004)
 
Gene (location): UTP4 (16q22.1)
OMIM®: 604901
Orphanet: ORPHA168583

Definition

North American Indian childhood cirrhosis is a rare liver disorder that occurs in children. The liver malfunction causes yellowing of the skin and whites of the eyes (jaundice) in affected infants. The disorder worsens with age, progressively damaging the liver and leading to chronic, irreversible liver disease (cirrhosis) in childhood or adolescence. Unless it is treated with liver transplantation, North American Indian childhood cirrhosis typically causes life-threatening complications including liver failure. [from GHR]

Clinical features

Portal hypertension
MedGen UID:
9375
Concept ID:
C0020541
Disease or Syndrome
Abnormal increase of resistance to blood flow within the hepatic PORTAL SYSTEM, frequently seen in LIVER CIRRHOSIS and conditions with obstruction of the PORTAL VEIN.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVNorth american indian childhood cirrhosis
Follow this link to review classifications for North american indian childhood cirrhosis in Orphanet.

Recent clinical studies

Etiology

Freed EF, Prieto JL, McCann KL, McStay B, Baserga SJ
PLoS Genet 2012;8(8):e1002892. Epub 2012 Aug 16 doi: 10.1371/journal.pgen.1002892. PMID: 22916032Free PMC Article
Laberge AM, Michaud J, Richter A, Lemyre E, Lambert M, Brais B, Mitchell GA
Clin Genet 2005 Oct;68(4):287-301. doi: 10.1111/j.1399-0004.2005.00497.x. PMID: 16143014
Herzog D, Martin S, Lallier M, Alvarez F
Pediatr Transplant 2005 Feb;9(1):74-9. doi: 10.1111/j.1399-3046.2005.00259.x. PMID: 15667616
Drouin E, Russo P, Tuchweber B, Mitchell G, Rasquin-Weber A
J Pediatr Gastroenterol Nutr 2000 Oct;31(4):395-404. PMID: 11045837

Diagnosis

Laberge AM, Michaud J, Richter A, Lemyre E, Lambert M, Brais B, Mitchell GA
Clin Genet 2005 Oct;68(4):287-301. doi: 10.1111/j.1399-0004.2005.00497.x. PMID: 16143014

Prognosis

Yu B, Mitchell GA, Richter A
Exp Cell Res 2005 Dec 10;311(2):218-28. Epub 2005 Oct 12 doi: 10.1016/j.yexcr.2005.08.012. PMID: 16225863
Herzog D, Martin S, Lallier M, Alvarez F
Pediatr Transplant 2005 Feb;9(1):74-9. doi: 10.1111/j.1399-3046.2005.00259.x. PMID: 15667616
Chagnon P, Michaud J, Mitchell G, Mercier J, Marion JF, Drouin E, Rasquin-Weber A, Hudson TJ, Richter A
Am J Hum Genet 2002 Dec;71(6):1443-9. Epub 2002 Nov 4 doi: 10.1086/344580. PMID: 12417987Free PMC Article

Clinical prediction guides

Yu B, Mitchell GA, Richter A
Exp Cell Res 2009 Nov 1;315(18):3086-98. Epub 2009 Sep 2 doi: 10.1016/j.yexcr.2009.08.017. PMID: 19732766
Yu B, Mitchell GA, Richter A
Exp Cell Res 2005 Dec 10;311(2):218-28. Epub 2005 Oct 12 doi: 10.1016/j.yexcr.2005.08.012. PMID: 16225863
Herzog D, Martin S, Lallier M, Alvarez F
Pediatr Transplant 2005 Feb;9(1):74-9. doi: 10.1111/j.1399-3046.2005.00259.x. PMID: 15667616
Chagnon P, Michaud J, Mitchell G, Mercier J, Marion JF, Drouin E, Rasquin-Weber A, Hudson TJ, Richter A
Am J Hum Genet 2002 Dec;71(6):1443-9. Epub 2002 Nov 4 doi: 10.1086/344580. PMID: 12417987Free PMC Article
Bétard C, Rasquin-Weber A, Brewer C, Drouin E, Clark S, Verner A, Darmond-Zwaig C, Fortin J, Mercier J, Chagnon P, Fujiwara TM, Morgan K, Richter A, Hudson TJ, Mitchell GA
Am J Hum Genet 2000 Jul;67(1):222-8. Epub 2000 May 11 doi: 10.1086/302993. PMID: 10820129Free PMC Article

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