Mitochondrial dna depletion syndrome 15 (hepatocerebral type)

Preferred Label : Mitochondrial dna depletion syndrome 15 (hepatocerebral type);

Symbol : MTDPS15;

CISMeF acronym : MTDPS15;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the mitochondrial transcription factor A gene (TFAM, 600438.0001);

Laboratory abnormalities : Hypoglycemia; Hypoalbuminemia Hyperbilirubinemia; Increased plasma methionine; Abnormal urinary organic acids; Abnormal liver enzymes; Increased plasma tyrosine;

Prefixed ID : #617156;

Details

Origin ID

617156;

UMLS CUI

C4310690;

Automatic exact mappings (from CISMeF team)
- TFAM wt Allele [NCIt concept]
DO Cross reference
- mitochondrial DNA depletion syndrome 15 [DO Concept]
Genes related to phenotype
- Transcription factor a, mitochondrial [OMIM gene]
HPO term(s)
- Abnormality of the coagulation cascade [HPO term]
- Ascites [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cholestasis [HPO term]
- Cirrhosis [HPO term]
- Congenital onset [HPO term]
- Death in infancy [HPO term]
- Elevated hepatic transaminase [HPO term]
- Failure to thrive [HPO term]
- Hepatic failure [HPO term]
- Hypoalbuminemia [HPO term]
- Hypoglycemia [HPO term]
- Intrauterine growth retardation [HPO term]
- Jaundice [HPO term]
- Microvesicular hepatic steatosis [HPO term]
- Progressive [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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