infantile liver failure syndrome 2
Findings
No curated finding names infantile liver failure syndrome 2 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any infantile liver failure in which the cause of the disease is a mutation in the NBAS gene.
Definition from the Mondo Disease Ontology (MONDO:0014659), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset
HPO, annotations 2026-09-02
Features
11 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- CardiomyopathyHPOHP:0001638
- 1 of 10 reported patients
- SeizureHPOHP:0001250
- 1 of 10 reported patients
- Acute hepatic failureHPOHP:0006554
- Infantile onset
- Elevated circulating hepatic transaminase concentrationHPOHP:0002910
- Hepatic encephalopathyHPOHP:0002480
- HyperammonemiaHPOHP:0001987
- HypoglycemiaHPOHP:0001943
- JaundiceHPOHP:0000952
Genes
2 genes
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
Where it sits
- A kind of
Other names
4 names
Resolves to: infantile liver failure syndrome 2
- Also called
- ILFS2infantile liver failure caused by mutation in NBASinfantile liver failure syndrome type 2NBAS infantile liver failure