Hereditary North American Indian childhood cirrhosis

General Information (adopted from Orphanet):

Synonyms, Signs: NAIC
Number of Symptoms 15
OrphanetNr: 168583
OMIM Id: 604901
ICD-10: K74.6
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 36 cases
Inheritance:
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Genetic parenchymatous liver disease
 -Rare genetic disease
Rare parenchymatous liver disease
 -Rare hepatic disease

Comment:

Genetic analysis suggests autosomal recessive inheritance and a carrier frequency of 10% in this population. Gene mapping studies showed that the NAIC gene is located on chromosome 16q22. Typically, patients have neonatal cholestatic jaundice (70%) or hepatosplenomegaly (20%) with resolution of clinical jaundice by age 1 year but persistent direct hyperbilirubinemia. Portal hypertension was documented in 29 patients (91%). Variceal bleeding (15 patients, 50%) occurred as early as age 10 months (PMID:11045837).

Symptom Information: Sort by abundance 

1
 (HPO:0000421) Epistaxis typical 11045837 IBIS 85 / 7739
2
 (HPO:0000388) Otitis media typical 11045837 IBIS 28 / 7739
3
 (HPO:0001298) Encephalopathy occasional 11045837 IBIS 72 / 7739
4
 (HPO:0001541) Ascites occasional 11045837 IBIS 94 / 7739
5
 (HPO:0001408) Bile duct proliferation typical 11045837 IBIS 22 / 7739
6
 (HPO:0006580) Portal fibrosis typical 11045837 IBIS 10 / 7739
7
 (HPO:0006579) Prolonged neonatal jaundice typical 11045837 IBIS 25 / 7739
8
 (HPO:0001433) Hepatosplenomegaly occasional 11045837 IBIS 78 / 7739
9
 (HPO:0002613) Biliary cirrhosis typical 11045837 IBIS 11 / 7739
10
 (HPO:0001409) Portal hypertension hallmark 18021715 IBIS 39 / 7739
11
 (HPO:0007380) Facial telangiectasia typical 11045837 IBIS 3 / 7739
12
 (HPO:0000989) Pruritus typical 11045837 IBIS 111 / 7739
13
 (HPO:0002904) Hyperbilirubinemia typical 11045837 IBIS 32 / 7739
14
 (HPO:0100806) Sepsis occasional 11045837 IBIS 48 / 7739
15
 (MedDRA:10005144) Bleeding varicose vein typical 11045837 IBIS 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Weber et al. (1981) described an isolated nonsyndromic form of cholestasis in Ojibway-Cree children from First Nations communities in the Abitibi region of northwestern Quebec, Canada. The disease typically presents, in a child who is otherwise well, with ...
Molecular genetics OMIM Chagnon et al. (2002) identified a homozygous missense mutation in the CIRH1A gene (607456.0001) as the cause of NAIC.