Mitochondrial dna depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)

Preferred Label : Mitochondrial dna depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria);

Symbol : MTDPS5;

CISMeF acronym : MTDPS5;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Mitochondrial dna depletion syndrome, encephalomyopathic form, with or without methylmalonic aciduria, autosomal recessive, sucla2-related;

Description : Mitochondrial DNA depletion syndrome-5 is an autosomal recessive disorder characterized by infantile onset of hypotonia, progressive neurologic deterioration, a hyperkinetic-dystonic movement disorder, external ophthalmoplegia, deafness, and variable renal tubular dysfunction. Laboratory studies often show mild methylmalonic aciduria (Carrozzo et al., 2007). For a discussion of genetic heterogeneity of mtDNA depletion syndromes, see MTDPS1 (603041).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the succinate-CoA ligase ADP-forming beta-subunit gene (SUCLA2, 603921.0001);

Laboratory abnormalities : Increased serum creatine kinase; Increased serum and CSF lactate; Methylmalonic aciduria, mild; Methylglutaconic aciduria, mild; Increased urinary carnitine esters; Aminoaciduria, intermittent;

Prefixed ID : #612073;

Détails

Origin ID

612073;

UMLS CUI

C2749864;

Automatic exact mappings (from CISMeF team)
- Mitochondrial DNA depletion syndrome, encephalomyopathic form [ORDO Disease]
Currated CISMeF NLP mapping
- Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria [ORDO Disease]
- Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form with methylmalonic aciduria (disorder) [SNOMED CT concept]
- mitochondrial DNA depletion syndrome 5 [DO Concept]
DO Cross reference
- mitochondrial DNA depletion syndrome 5 [DO Concept]
Genes related to phenotype
- Succinate-coa ligase, adp-forming, subunit beta [OMIM gene]
HPO term(s)
- Abnormality of the basal ganglia [HPO term]
- Aminoaciduria [HPO term]
- Athetosis [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cerebral atrophy [HPO term]
- Decreased activity of mitochondrial respiratory chain [HPO term]
- Delayed gross motor development [HPO term]
- Dystonia [HPO term]
- Elevated circulating creatine kinase concentration [HPO term]
- Facial diplegia [HPO term]
- Failure to thrive [HPO term]
- Feeding difficulties [HPO term]
- Feeding difficulties in infancy [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Hyperkinetic movements [HPO term]
- Hyporeflexia [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]
- Loss of ability to walk in early childhood [HPO term]
- Methylmalonic acidemia [HPO term]
- Methylmalonic aciduria [HPO term]
- Ophthalmoplegia [HPO term]
- Peripheral neuropathy [HPO term]
- Progressive encephalopathy [HPO term]
- Ptosis [HPO term]
- Respiratory insufficiency due to muscle weakness [HPO term]
- Seizure [HPO term]
- Sensorineural hearing impairment [HPO term]
- Spasticity [HPO term]
- Strabismus [HPO term]
ORDO concept(s)
- Mitochondrial DNA depletion syndrome, encephalomyopathic form [ORDO Disease]
- Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria [ORDO Disease]
See also inter- (CISMeF)
- Encephalomyopathic mitochondrial DNA depletion syndrome with methylmalonic aciduria [ICD-11 More detail]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria [ORDO Disease]
- Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form with methylmalonic aciduria (disorder) [SNOMED CT concept]
- mitochondrial DNA depletion syndrome 5 [DO Concept]

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

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