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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
Source: HPO
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
MedGen UID:
832197
Concept ID:
CN227382
Intellectual Product
Source: Orphanet
Describes a disorder in which two mutated alleles located on one of the 22 autosomes (non-sex chromosomes) are necessary to express the phenotype and which carries a 25% risk of being passed on to offspring.
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.
Primary biliary cirrhosis
MedGen UID:
3035
Concept ID:
C0008312
Disease or Syndrome
Progressive destruction of the small-to-medium bile ducts of the intrahepatic biliary tree, which leads to progressive cholestasis and often end-stage liver disease.
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.
Neonatal jaundice
MedGen UID:
5923
Concept ID:
C0022353
Disease or Syndrome
Neonatal jaundice refers to a yellowing of the skin and other tissues of a newborn infant as a result of increased concentrations of bilirubin in the blood. Neonatal jaundice affects over half of all newborns to some extent in the first week of life. Prolonged neonatal jaundice is said to be present if the jaundice persists for longer than 14 days in term infants and 21 days in preterm infants.
Neonatal jaundice
MedGen UID:
5923
Concept ID:
C0022353
Disease or Syndrome
Neonatal jaundice refers to a yellowing of the skin and other tissues of a newborn infant as a result of increased concentrations of bilirubin in the blood. Neonatal jaundice affects over half of all newborns to some extent in the first week of life. Prolonged neonatal jaundice is said to be present if the jaundice persists for longer than 14 days in term infants and 21 days in preterm infants.

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. [Epub ahead of print] 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. [Epub ahead of print] 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. [Epub ahead of print] 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. [Epub ahead of print] 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. [Epub ahead of print] 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. [Epub ahead of print] PMID: 10820129Free PMC Article

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