Rhabdomyolysis and Metabolic Myopathy
Gene: TYMP
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
# 603041 MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE)
Publications
Mitochondrial DNA depletion syndrome-1 (MTDPS1) is an autosomal recessive progressive multisystem disorder clinically characterized by onset between the second and fifth decades of life of ptosis, progressive external ophthalmoplegia (PEO), gastrointestinal dysmotility (often pseudoobstruction), cachexia, diffuse leukoencephalopathy, peripheral neuropathy, and mitochondrial dysfunction. Mitochondrial DNA abnormalities can include depletion, deletion, and point mutations. More than 10 families reported.Created: 30 Jul 2021, 8:16 a.m. | Last Modified: 30 Jul 2021, 8:16 a.m.
Panel Version: 0.8562
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitochondrial DNA depletion syndrome 1 (MNGIE type), MIM# 603041; MNGIE: ptosis, ophthalmoplegia & ophthalmoparesis, hearing loss, neuropathy
Publications
Cannot find any evidence that rhabdomyolysis is a feature of the condition. One case reported with exercise intolerance as a presenting feature of the condition.Created: 12 Feb 2020, 10:02 a.m. | Last Modified: 29 May 2020, 8:18 a.m.
Panel Version: 0.51
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitochondrial DNA depletion syndrome 1 (MNGIE type) MIM#603041
Publications
Gene: tymp has been classified as Red List (Low Evidence).
Publications for gene: TYMP were set to
Gene: tymp has been classified as Red List (Low Evidence).
gene: TYMP was added gene: TYMP was added to Rhabdomyolysis_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: TYMP was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TYMP were set to Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) 612073