Mitochondrial dna depletion syndrome 2 (myopathic type)

Preferred Label : Mitochondrial dna depletion syndrome 2 (myopathic type);

Symbol : MTDPS2;

CISMeF acronym : MTDPS2;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Mitochondrial dna depletion myopathy, tk2-related;

Description : Mitochondrial DNA depletion syndrome-2 is an autosomal recessive disorder characterized primarily by childhood onset of muscle weakness associated with depletion of mtDNA in skeletal muscle. There is wide clinical variability; some patients have onset in infancy and show a rapidly progressive course with early death due to respiratory failure, whereas others have later onset of a slowly progressive myopathy (Oskoui et al., 2006). 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 thymidine kinase gene (TK2, 188250.0001);

Laboratory abnormalities : Increased serum creatine kinase; Aminoaciduria;

Prefixed ID : #609560;

Details

Origin ID

609560;

UMLS CUI

C3149750;

Automatic exact mappings (from CISMeF team)
- Mitochondrial DNA depletion syndrome, myopathic form [ORDO Disease]
- TK2 wt Allele [NCIt concept]
Broader ORDO disease(s)
- Mitochondrial DNA depletion syndrome [ORDO Disease]
Currated CISMeF NLP mapping
- Mitochondrial DNA Depletion Syndrome 2 (Myopathic Type) [NCIt concept]
- TK2-related mitochondrial deoxyribonucleic acid depletion syndrome myopathic form (disorder) [SNOMED CT concept]
- mitochondrial DNA depletion syndrome 2 [DO Concept]
DO Cross reference
- mitochondrial DNA depletion syndrome 2 [DO Concept]
Genes related to phenotype
- Thymidine kinase, mitochondrial [OMIM gene]
HPO term(s)
- Abnormality of the basal ganglia [HPO term]
- Aminoaciduria [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cerebral atrophy [HPO term]
- Childhood onset [HPO term]
- Death in childhood [HPO term]
- Decreased activity of mitochondrial ATP synthase complex [HPO term]
- Decreased activity of mitochondrial complex I [HPO term]
- Decreased activity of mitochondrial complex III [HPO term]
- Decreased activity of mitochondrial complex IV [HPO term]
- Delayed gross motor development [HPO term]
- Depletion of mitochondrial DNA in muscle tissue [HPO term]
- EMG shows myopathic changes [HPO term]
- EMG: myopathic abnormalities [HPO term]
- Elevated circulating creatine kinase concentration [HPO term]
- Facial diplegia [HPO term]
- Generalized amyotrophy [HPO term]
- Generalized hypotonia [HPO term]
- Gowers sign [HPO term]
- Hearing impairment [HPO term]
- Hypotonia [HPO term]
- Imaging shows signal abnormalities in basal ganglia [HPO term]
- Inability to walk [HPO term]
- Infantile onset [HPO term]
- Intellectual disability, progressive [HPO term]
- Irritability [HPO term]
- Lactic acidosis [HPO term]
- Limb muscle weakness [HPO term]
- Loss of ability to walk in early childhood [HPO term]
- Muscle atrophy, diffuse [HPO term]
- Progressive [HPO term]
- Ragged-red muscle fibers [HPO term]
- Respiratory insufficiency due to muscle weakness [HPO term]
- Seizure [HPO term]
- Skeletal muscle tissue shows 14 to 45% depletion of mitochondrial dna [HPO term]
ORDO concept(s)
- Mitochondrial DNA depletion syndrome, myopathic form [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Mitochondrial DNA Depletion Syndrome 2 (Myopathic Type) [NCIt concept]
- TK2-related mitochondrial deoxyribonucleic acid depletion syndrome myopathic form (disorder) [SNOMED CT concept]
- mitochondrial DNA depletion syndrome 2 [DO Concept]

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