Hereditary North American Indian childhood cirrhosis(NAIC)

MedGen UID:: 387974
•Concept ID:: C1858051
•: Disease or Syndrome

Synonym:	North american indian childhood cirrhosis
SNOMED CT:	North American Indian childhood cirrhosis (699189004); NAIC - North American Indian childhood cirrhosis (699189004)
Modes of inheritance:	Autosomal recessive inheritance MedGen UID: 141025 •Concept ID: C0441748 • Intellectual Product Source: 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 individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Autosomal recessive inheritance (Orphanet)

Monarch Initiative:	MONDO:0011497
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 MedlinePlus Genetics]

Clinical features

From HPO

Portal hypertension

MedGen UID:: 9375
•Concept ID:: C0020541
•: Disease or Syndrome

Increased pressure in the portal vein.

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Biliary cirrhosis

MedGen UID:: 44182
•Concept ID:: C0023892
•: 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.

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Prolonged neonatal jaundice

MedGen UID:: 347108
•Concept ID:: C1859236
•: Finding

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.

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Abnormality of the cardiovascular system
- Portal hypertension
Abnormality of the digestive system
- Biliary cirrhosis
- Prolonged neonatal jaundice

Term Hierarchy

GTR
MeSH
Orphanet

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVHereditary North American Indian childhood cirrhosis

Familial intrahepatic cholestasis
- Progressive familial intrahepatic cholestasis
  - Hereditary North American Indian childhood cirrhosis

Follow this link to review classifications for Hereditary North American Indian childhood cirrhosis in Orphanet.

Recent clinical studies

Etiology

Population history and its impact on medical genetics in Quebec.

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

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Diagnosis

Population history and its impact on medical genetics in Quebec.

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

See all (1)