Neonatal cholestasis

Gene: CFTR

PMID: 9934970 Neonatal cholestasis is caused by a number of metabolic disorders with cystic fibrosis (CF) and alpha-1-antitrypsin deficiency (α1ATD) being the most common. Although infants with CF are more likely to present with meconium ileus or steatorrhea with failure to thrive, 5% of patients with CF manifest with neonatal cholestasis.

Created: 25 Jul 2018, 1:58 p.m.

Comment on list classification: Changed Red to Green from external review comment and further publications to support gene-disease association

Created: 25 Jul 2018, 11:09 a.m.

Comment on publications: added publications to support disease-disease association

Created: 25 Jul 2018, 11:09 a.m.

Comment on publications: Zhonghua et al (2016) PMID: 27806795 described a 5 months old boy with cholestasis which developed in neonatal period with delayed meconium exclusion..The genetic analysis showed compound heterozygous mutations in CFTR. The liver function normalized when he was 11 months old.When he was 21 months old, he had normal appearance except mild splenomegaly.(2) Literature review identified 25 infantile cholestatic cases related to cystic fibrosis (CF) diagnosed by sweat test or gene analysis.

Created: 25 Jul 2018, 10:55 a.m.

Comment on phenotypes: added phenotypes suggested by external clinical review, and OMIM morbidIDs

Created: 25 Jul 2018, 10:53 a.m.

Comment on mode of inheritance: added MOI from external clinical review

Created: 25 Jul 2018, 10:45 a.m.

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Cholestasis; cystic fibrosis; pancreatitis