Infantile liver failure syndrome 2

Preferred Label : Infantile liver failure syndrome 2;

Symbol : ILFS2;

CISMeF acronym : ILFS2;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the neuroblastoma-amplified sequence gene (NBAS, 608025.0002);

Laboratory abnormalities : Elevated liver enzymes during episodes; Hyperammonemia during episodes;

Prefixed ID : #616483;

Details

Origin ID

616483;

UMLS CUI

C3809651;

Automatic exact mappings (from CISMeF team)
- Fever-associated acute infantile liver failure syndrome [ORDO Disease]
Currated CISMeF NLP mapping
- Infantile Liver Failure Syndrome 2 [NCIt concept]
Genes related to phenotype
- Nbas subunit of nrz tethering complex [OMIM gene]
HPO term(s)
- Acute hepatic failure [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cardiomyopathy [HPO term]
- Elevated hepatic transaminase [HPO term]
- Hepatic encephalopathy [HPO term]
- Hyperammonemia [HPO term]
- Hypoglycemia [HPO term]
- Infantile onset [HPO term]
- Jaundice [HPO term]
- Lethargy [HPO term]
- Prolonged prothrombin time [HPO term]
- Seizure [HPO term]
- Vomiting [HPO term]
ORDO concept(s)
- Fever-associated acute infantile liver failure syndrome [ORDO Disease]
See also inter- (CISMeF)
- NBAS wt Allele [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Infantile Liver Failure Syndrome 2 [NCIt concept]

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