Mitochondrial Dna Depletion Syndrome 2 (MTDPS2)

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Disease Ontology 12 DOID:0080120 OMIM 56 609560 OMIM Phenotypic Series 56 PS603041 MeSH 43 C563698 D017240 ICD10 via Orphanet 33 G71.3

UMLS via Orphanet 72 C3501891 Orphanet 58 ORPHA254875 MedGen 41 C3149750 SNOMED-CT via HPO 68 103276001 111266001 128601007 128613002 129565002 15188001 190882007 228158008 230145002 246545002 249902000 249942005 252157006 255314001 258211005 267036007 267044007 271825005 278849000 288939007 298294005 313307000 343087000 35912001 398151007 398152000 398432008 405946002 40739000 409622000 418143002 430099007 46252003 52522001 5262007 609225004 64217002 68962001 699014000 70835005 713514005 8011004 84757009 85905009 91175000 91273001 95828007 more UMLS 71 C3149750

Genetics Home Reference : ²⁵ TK2-related mitochondrial DNA depletion syndrome, myopathic form (TK2-MDS) is an inherited condition that causes progressive muscle weakness (myopathy). TK2 TK2 The signs and symptoms of TK2-MDS typically begin in early childhood. Development is usually normal early in life, but as muscle weakness progresses, people with TK2-MDS lose motor skills such as standing, walking, eating, and talking. Some affected individuals have increasing weakness in the muscles that control eye movement, leading to droopy eyelids (progressive external ophthalmoplegia). TK2 TK2 Most often in TK2-MDS, the muscles are the only affected tissues; however, the liver may be enlarged (hepatomegaly), seizures can occur, and hearing loss caused by nerve damage in the inner ear (sensorineural hearing loss) may be present. Intelligence is usually not affected. TK2 As the disorder worsens, the muscles that control breathing become weakened and affected individuals frequently have to rely on mechanical ventilation. Respiratory failure is the most common cause of death in people with TK2-MDS, often occurring in childhood. Rarely, the disorder progresses slowly and affected individuals survive into adolescence or adulthood. TK2

MalaCards based summary : Mitochondrial Dna Depletion Syndrome 2, also known as mtdps2, is related to tk2-related mitochondrial dna maintenance defect, myopathic form and mitochondrial dna maintenance defects. An important gene associated with Mitochondrial Dna Depletion Syndrome 2 is TK2 (Thymidine Kinase 2). Affiliated tissues include skeletal muscle, eye and liver, and related phenotypes are myopathy and motor deterioration

Disease Ontology : ¹² A mitochondrial DNA depletion syndrome that is characterized by childhood onset of muscle weakness associated with depletion of mtDNA in skeletal muscle, and has material basis in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the mitochondrial thymidine kinase gene on chromosome 16q21.

OMIM : ⁵⁶ 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 childhood 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). (609560)

UniProtKB/Swiss-Prot : ⁷³ Mitochondrial DNA depletion syndrome 2: A disorder due to mitochondrial dysfunction characterized 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.

Clinical features from OMIM:

609560

Search NIH Clinical Center for Mitochondrial Dna Depletion Syndrome 2

Search GEO for disease gene expression data for Mitochondrial Dna Depletion Syndrome 2.