Infantile liver failure syndrome 3

Preferred Label : Infantile liver failure syndrome 3;

Symbol : ILFS3;

CISMeF acronym : ILFS3;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the RAD50-interacting protein 1 gene (RINT1, 610089.0002);

Laboratory abnormalities : Abnormal liver enzymes during acute episode; Liver enzymes may return to normal between episodes; Hyperammonemia during acute episodes;

Prefixed ID : #618641;

Details

Origin ID

618641;

UMLS CUI

C5231437;

Genes related to phenotype
- Rad50-interacting protein 1 [OMIM gene]
HPO term(s)
- Abnormal acetabulum morphology [HPO term]
- Abnormality of the epiphysis of the femoral head [HPO term]
- Acute hepatic failure [HPO term]
- Autosomal recessive inheritance [HPO term]
- Beaking of vertebral bodies [HPO term]
- Cholestasis [HPO term]
- Death in childhood [HPO term]
- Elevated hepatic transaminase [HPO term]
- Hepatic bridging fibrosis [HPO term]
- Hepatic encephalopathy [HPO term]
- Hepatic steatosis [HPO term]
- Hepatomegaly [HPO term]
- Hyperammonemia [HPO term]
- Hypoplastic vertebral bodies [HPO term]
- Infantile onset [HPO term]
- Jaundice [HPO term]
- Platyspondyly [HPO term]
- Prolonged prothrombin time [HPO term]
- Short stature [HPO term]
- Splenomegaly [HPO term]
- Talipes equinovarus [HPO term]
ORDO concept(s)
- Fever-associated acute infantile liver failure syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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