Liver failure, infantile, transient

Preferred Label : Liver failure, infantile, transient;

Symbol : LFIT;

CISMeF acronym : LFIT;

Type : Phenotype, molecular basis known;

Description : Acute infantile liver failure resulting from TRMU mutation is a transient disorder of hepatic function. In addition to elevated liver enzymes, jaundice, vomiting, coagulopathy, and hyperbilirubinemia, the presence of increased serum lactate is consistent with a defect in mitochondrial respiratory function. With supportive care, patients who survive the initial acute episode can recover and show normal development (Zeharia et al., 2009). See also transient infantile mitochondrial myopathy (MMIT; 500009), which is a similar disorder. A more severe, permanent disorder with some overlapping features is associated with mitochondrial DNA depletion (251880). See ILFS1 (615438) for information on syndromic infantile liver failure.;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase gene (TRMU, 610230.0002);

Laboratory abnormalities : Hyperbilirubinemia, direct; Decreased serum albumin; Increased serum lactate; Increased alpha-fetoprotein; Abnormal liver enzymes;

Prefixed ID : #613070;

Détails

Origin ID

613070;

UMLS CUI

C3278664;

Automatic exact mappings (from CISMeF team)
- transient infantile liver failure [DO Concept]
DO Cross reference
- transient infantile liver failure [DO Concept]
False automatic mappings
- Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins [ORDO Disease]
Genes related to phenotype
- Trna 5-methylaminomethyl-2-thiouridylate methyltransferase [OMIM gene]
HPO term(s)
- Abdominal distention [HPO term]
- Abnormality of the coagulation cascade [HPO term]
- Acute hepatic failure [HPO term]
- Autosomal recessive inheritance [HPO term]
- Elevated hepatic transaminase [HPO term]
- Elevated liver enzymes [HPO term]
- Feeding difficulties [HPO term]
- Feeding difficulties in infancy [HPO term]
- Generalized hypotonia [HPO term]
- Hepatomegaly [HPO term]
- Hyperbilirubinemia [HPO term]
- Hypotonia [HPO term]
- Increased serum lactate [HPO term]
- Jaundice [HPO term]
- Lactic acidosis [HPO term]
- Macrovesicular hepatic steatosis [HPO term]
- Microvesicular hepatic steatosis [HPO term]
- Mitochondrial respiratory chain defects [HPO term]
- Vomiting [HPO term]
NCIt concept(s)
- Zinc Finger Protein Neuro-D4 [NCIt concept]
ORDO concept(s)
- Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

Position du mot-clé dans l'(les) arborescence(s) :

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