Neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD)
GPTKB entity
Statements (30)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:disease
inborn error of metabolism |
| gptkbp:affects |
liver
|
| gptkbp:alsoKnownAs |
NICCD
|
| gptkbp:cause |
gptkb:citrin_deficiency
|
| gptkbp:firstDescribed |
2001
|
| gptkbp:hasGeneticCause |
mutation in SLC25A13 gene
|
| https://www.w3.org/2000/01/rdf-schema#label |
Neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD)
|
| gptkbp:ICD-10_code |
E72.03
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:OMIM |
603471
|
| gptkbp:onset |
neonatal period
|
| gptkbp:prevalence |
rare
|
| gptkbp:symptom |
jaundice
failure to thrive hepatomegaly fatty liver coagulopathy hypoproteinemia elevated serum bile acids |
| gptkbp:treatment |
dietary management
liver transplantation (in severe cases) medium-chain triglyceride supplementation |
| gptkbp:bfsParent |
gptkb:O43175
gptkb:O60216 gptkb:O00443 gptkb:O14807 gptkb:Q9BVC4 gptkb:Q9UBS5 |
| gptkbp:bfsLayer |
7
|