Mitochondrial dna depletion syndrome 16 (hepatic type)

Preferred Label : Mitochondrial dna depletion syndrome 16 (hepatic type);

Symbol : MTDPS16;

CISMeF acronym : MTDPS16;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the polymerase, DNA, gamma-2 gene (POLG2, 604983.0006);

Laboratory abnormalities : Abnormal liver enzymes; Increased bilirubin; Increased serum lactate; Abnormal carnitine profile; Increased bile acids; Depletion of mtDNA in various tissues; Decreased albumin;

Prefixed ID : #618528;

Details

Origin ID

618528;

UMLS CUI

C5193142;

Genes related to phenotype
- Polymerase, dna, gamma-2 [OMIM gene]
HPO term(s)
- Abdominal distention [HPO term]
- Abnormal mitochondrial morphology [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cholestasis [HPO term]
- Death in infancy [HPO term]
- Elevated hepatic transaminase [HPO term]
- Feeding difficulties [HPO term]
- Hepatic failure [HPO term]
- Hepatomegaly [HPO term]
- Hypoplasia of the corpus callosum [HPO term]
- Increased serum lactate [HPO term]
- Increased total bilirubin [HPO term]
- Jaundice [HPO term]
- Metabolic acidosis [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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