Infantile liver failure syndrome 1

Preferred Label : Infantile liver failure syndrome 1;

Symbol : ILFS1;

CISMeF acronym : ILFS1;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the leucyl tRNA synthetase 1 gene (LARS1, 151350.0001);

Prefixed ID : #615438;

Details

Origin ID

615438;

UMLS CUI

C3809522;

Automatic exact mappings (from CISMeF team)
- Acute infantile liver failure-multisystemic involvement syndrome [ORDO Disease]
Currated CISMeF NLP mapping
- infantile liver failure syndrome 1 [DO Concept]
DO Cross reference
- infantile liver failure syndrome 1 [DO Concept]
Genes related to phenotype
- Leucyl-trna synthetase 1 [OMIM gene]
HPO term(s)
- Abnormality of the coagulation cascade [HPO term]
- Acute hepatic failure [HPO term]
- Anemia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Delayed gross motor development [HPO term]
- Elevated hepatic transaminase [HPO term]
- Failure to thrive [HPO term]
- Frontal bossing [HPO term]
- Full cheeks [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Hepatic steatosis [HPO term]
- Hepatomegaly [HPO term]
- Hypotonia [HPO term]
- Lactic acidosis [HPO term]
- Long fingers [HPO term]
- Long toe [HPO term]
- Macrocytic anemia [HPO term]
- Microcephaly [HPO term]
- Seizure [HPO term]
- Sensorineural hearing impairment [HPO term]
ORDO concept(s)
- Acute infantile liver failure-multisystemic involvement syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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