Mitochondrial dna depletion syndrome 3 (hepatocerebral type)

Preferred Label : Mitochondrial dna depletion syndrome 3 (hepatocerebral type);

Symbol : MTDPS3;

CISMeF acronym : MTDPS3;

Type : Phenotype, molecular basis known;

Description : Mitochondrial DNA depletion syndrome-3 is an autosomal recessive disorder characterized by onset in infancy of progressive liver failure and neurologic abnormalities, hypoglycemia, and increased lactate in body fluids. Affected tissues show both decreased activity of the mtDNA-encoded respiratory chain complexes (I, III, IV, and V) and mtDNA depletion (Mandel et al., 2001). For a discussion of genetic heterogeneity of autosomal recessive mtDNA depletion syndromes, see MTDPS1 (603041).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the nuclear-encoded mitochondrial deoxyguanosine kinase gene (DGUOK, 601465.0001).;

Laboratory abnormalities : Hyperbilirubinemia; Abnormal liver function tests; Hypoalbuminemia; Generalized aminoaciduria;

Prefixed ID : #251880;

Details

Origin ID

251880;

UMLS CUI

C5191055;

Automatic exact mappings (from CISMeF team)
- Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency [ORDO Disease]
Broader ORDO disease(s)
- Mitochondrial DNA depletion syndrome [ORDO Disease]
Currated CISMeF NLP mapping
- mitochondrial DNA depletion syndrome 3 [DO Concept]
DO Cross reference
- mitochondrial DNA depletion syndrome 3 [DO Concept]
Genes related to phenotype
- Deoxyguanosine kinase [OMIM gene]
HPO term(s)
- Abnormal conjugate eye movement [HPO term]
- Abnormal liver function tests [HPO term]
- Ascites [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cerebral atrophy [HPO term]
- Decreased activity of mitochondrial respiratory chain [HPO term]
- Depletion of mitochondrial DNA in liver [HPO term]
- Elevated hepatic transaminase [HPO term]
- Encephalopathy [HPO term]
- Failure to thrive [HPO term]
- Feeding difficulties [HPO term]
- Feeding difficulties in infancy [HPO term]
- Generalized aminoaciduria [HPO term]
- Generalized hypotonia [HPO term]
- Growth delay [HPO term]
- Hepatic failure [HPO term]
- Hepatic steatosis [HPO term]
- Hepatocellular necrosis [HPO term]
- Hepatomegaly [HPO term]
- Hyperbilirubinemia [HPO term]
- Hyperreflexia [HPO term]
- Hypoalbuminemia [HPO term]
- Hypoglycemia [HPO term]
- Hypothermia [HPO term]
- Hypotonia [HPO term]
- Jaundice [HPO term]
- Lactic acidosis [HPO term]
- Microcephaly [HPO term]
- Micronodular cirrhosis [HPO term]
- Nystagmus [HPO term]
- Periportal fibrosis [HPO term]
- Polyneuropathy [HPO term]
- Portal hypertension [HPO term]
- Seizure [HPO term]
- Splenomegaly [HPO term]
- Thrombocytopenia [HPO term]
- Vomiting [HPO term]
ORDO concept(s)
- Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Mitochondrial deoxyribonucleic acid depletion syndrome, hepatocerebral form due to deoxyguanosine kinase deficiency (disorder) [SNOMED CT concept]
- mitochondrial DNA depletion syndrome 3 [DO Concept]

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