MTDPS2
MCID: MTC062
MIFTS: 43

Mitochondrial Dna Depletion Syndrome 2 (MTDPS2)

Categories: Bone diseases, Cardiovascular diseases, Ear diseases, Eye diseases, Gastrointestinal diseases, Genetic diseases, Liver diseases, Metabolic diseases, Nephrological diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Mitochondrial Dna Depletion Syndrome 2

MalaCards integrated aliases for Mitochondrial Dna Depletion Syndrome 2:

Name: Mitochondrial Dna Depletion Syndrome 2 56 12 25 73 29 13 6 15 71
Mtdps2 56 25 73
Tk2-Related Mitochondrial Dna Depletion Syndrome, Myopathic Form 12 25
Mitochondrial Dna Depletion Syndrome, Myopathic Form 58 43
Mitochondrial Dna Depletion Syndrome 2 Myopathic Type 73
Mitochondrial Dna Depletion Myopathy, Tk2-Related 56
Tk2-Related Mitochondrial Dna Depletion Myopathy 25
Mitochondrial Dna Depletion Myopathy Tk2-Related 73
Myopathic Mitochondrial Dna Depletion Syndrome 73
Mitochondrial Dna Depletion Syndrome, Type 2 39
Mtdna Depletion Syndrome, Myopathic Form 58

Characteristics:

Orphanet epidemiological data:

58
mitochondrial dna depletion syndrome, myopathic form
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
variable severity
progressive disorder
later onset has been reported
onset usually by age 2 years


HPO:

31
mitochondrial dna depletion syndrome 2:
Inheritance autosomal recessive inheritance
Onset and clinical course variable expressivity infantile onset progressive


Classifications:

Orphanet: 58  
Rare neurological diseases
Inborn errors of metabolism


Summaries for Mitochondrial Dna Depletion Syndrome 2

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 generalized hypotonia

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.

Related Diseases for Mitochondrial Dna Depletion Syndrome 2

Diseases in the Mitochondrial Dna Depletion Syndrome family:

Mitochondrial Dna Depletion Syndrome 4a Mitochondrial Dna Depletion Syndrome 9
Mitochondrial Dna Depletion Syndrome 3 Mitochondrial Dna Depletion Syndrome 6
Mitochondrial Dna Depletion Syndrome 7 Mitochondrial Dna Depletion Syndrome 1
Mitochondrial Dna Depletion Syndrome 2 Mitochondrial Dna Depletion Syndrome 5
Mitochondrial Dna Depletion Syndrome 8a Mitochondrial Dna Depletion Syndrome 4b
Mitochondrial Dna Depletion Syndrome 11 Mitochondrial Dna Depletion Syndrome 12b , Autosomal Recessive
Mitochondrial Dna Depletion Syndrome 13 Mitochondrial Dna Depletion Syndrome 14
Mitochondrial Dna Depletion Syndrome 15 Mitochondrial Dna Depletion Syndrome 12a , Autosomal Dominant
Mitochondrial Dna Depletion Syndrome 16 Mitochondrial Dna Depletion Syndrome 17
Mitochondrial Dna Depletion Syndrome 12a Mitochondrial Dna Depletion Syndrome 12b
Mitochondrial Dna Deletion Syndromes Multiple Mitochondrial Dna Deletion Syndrome

Diseases related to Mitochondrial Dna Depletion Syndrome 2 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 18)
# Related Disease Score Top Affiliating Genes
1 tk2-related mitochondrial dna maintenance defect, myopathic form 11.6
2 mitochondrial dna maintenance defects 10.1 TK2 DGUOK
3 mitochondrial dna depletion syndrome 14 10.0 TEFM PRIMPOL
4 mitochondrial dna depletion syndrome 8a 9.9 TEFM PRIMPOL
5 mitochondrial dna depletion syndrome 11 9.9 TEFM PRIMPOL
6 prenatal-onset spinal muscular atrophy with congenital bone fractures 9.9 TRIP4 ASCC1
7 mitochondrial dna depletion syndrome 4b 9.8 TEFM PRIMPOL
8 mental retardation, autosomal dominant 13 9.8 TK2 LAS1L ASCC1
9 congenital contractures 9.8 TRIP4 ASCC1
10 mitochondrial dna depletion syndrome 4a 9.7 TEFM PRIMPOL DGUOK
11 spinal muscular atrophy, type i 9.6 SCO2 LAS1L
12 spinal muscular atrophy, distal, autosomal recessive, 1 9.6 MORC2 LAS1L
13 mitochondrial dna depletion syndrome 1 9.6 TEFM SCO2 PRIMPOL
14 mitochondrial metabolism disease 9.5 TK2 SCO2 DGUOK
15 lethal congenital contracture syndrome 2 9.4 TRIP4 TK2 LAS1L ASCC1
16 muscular atrophy 9.3 TRIP4 MORC2 ASCC1
17 spinal muscular atrophy 8.6 TRIP4 TK2 SCO2 MORC2 ASCC1
18 mitochondrial dna depletion syndrome 3 7.4 TRIP4 TK2 TEFM SCO2 PRIMPOL MORC2

Graphical network of the top 20 diseases related to Mitochondrial Dna Depletion Syndrome 2:



Diseases related to Mitochondrial Dna Depletion Syndrome 2