Mitochondrial dna depletion syndrome 1 (mngie type)

Preferred Label : Mitochondrial dna depletion syndrome 1 (mngie type);

Symbol : MTDPS1;

CISMeF acronym : MTDPS1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Mngie, tymp-related; Polip syndrome; Myoneurogastrointestinal encephalopathy syndrome; Mitochondrial neurogastrointestinal encephalopathy syndrome, tymp-related; Polyneuropathy, ophthalmoplegia, leukoencephalopathy, and intestinal pseudoobstruction;

Description : 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 (Taanman et al., 2009). - Genetic Heterogeneity of Autosomal Recessive Mitochondrial DNA Depletion Syndromes Autosomal recessive mitochondrial DNA depletion syndromes are clinically and genetically heterogeneous. See also MTDPS2 (609560), caused by mutation in the TK2 gene (188250); MTDPS3 (251880), caused by mutation in the DGUOK gene (601465); MTDPS4A (203700) and MTDPS4B (613662), both caused by mutation in the POLG gene (174763); MTDPS5 (612073), caused by mutation in the SUCLA2 gene (603921); MTDPS6 (256810), caused by mutation in the MPV17 gene (137960); MTDPS7 (271245), caused by mutation in the C10ORF2 gene (606075); MTDPS8A (612075) and MTDPS8B (see 612075), both caused by mutation in the RRM2B gene (604712); MTDPS9 (245400), caused by mutation in the SUCLG1 gene (611224); MTDPS10 (221350), caused by mutation in the AGK gene (610345); MTDPS11 (615084), caused by mutation in the MGME1 gene (615076); MTDPS12 (615418), caused by mutation in the SLC25A4 gene (103220); and MTDPS13 (615471), caused by mutation in the FBXL4 gene (605654) on chromosome 6q16.;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the thymidine phosphorylase gene (TYMP, 131222.0001);

Laboratory abnormalities : Decreased activity of thymidine phosphorylase; Increased serum thymidine; Increased serum deoxyuridine;

Prefixed ID : #603041;

Details

Origin ID

603041;

UMLS CUI

C4551995;

CISMeF manual mappings
- mitochondrial DNA depletion syndrome 1 [DO Concept]
Currated CISMeF NLP mapping
- Mitochondrial Neurogastrointestinal Encephalopathy [NCIt concept]
- Mitochondrial neurogastrointestinal encephalomyopathy [ORDO Disease]
- Mitochondrial neurogastrointestinal encephalomyopathy syndrome (disorder) [SNOMED CT concept]
- Mitochondrial neurogastrointestinal encephalopathy [MedDRA Preferred Term]
- Mitochondrial neurogastrointestinal encephalopathy syndrome [MeSH concept]
- Myoneurogastrointestinal encephalopathy syndrome [ICD-11 More detail]
- mitochondrial DNA depletion syndrome 1 [Disease (Nov.)]
DO Cross reference
- mitochondrial DNA depletion syndrome 1 [DO Concept]
Genes related to phenotype
- Thymidine phosphorylase [OMIM gene]
HPO term(s)
- Abdominal pain [HPO term]
- Areflexia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cachexia [HPO term]
- Constipation [HPO term]
- Cytochrome C oxidase-negative muscle fibers [HPO term]
- Death in early adulthood [HPO term]
- Distal amyotrophy [HPO term]
- Distal limb muscle weakness [HPO term]
- Distal muscle weakness [HPO term]
- Distal sensory impairment [HPO term]
- Gastrointestinal dysmotility [HPO term]
- Gastroparesis [HPO term]
- Hypointensity of cerebral white matter on MRI [HPO term]
- Intermittent diarrhea [HPO term]
- Intestinal perforation [HPO term]
- Lactic acidosis [HPO term]
- Leukoencephalopathy [HPO term]
- Malabsorption [HPO term]
- Malnutrition [HPO term]
- Mitochondrial myopathy [HPO term]
- Multiple mitochondrial DNA deletions [HPO term]
- Muscle biopsy shows decreased activity of cytochrome C oxidase in most cases [HPO term]
- Muscle biopsy shows multiple mitochondrial DNA (mtDNA) deletions in most cases [HPO term]
- Progressive [HPO term]
- Progressive external ophthalmoplegia [HPO term]
- Ptosis [HPO term]
- Ragged-red muscle fibers [HPO term]
- Sensorineural hearing impairment [HPO term]
- Slender build [HPO term]
- Subsarcolemmal accumulations of abnormally shaped mitochondria [HPO term]
- Vomiting [HPO term]
- Weight loss [HPO term]
ORDO concept(s)
- Mitochondrial neurogastrointestinal encephalomyopathy [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Mitochondrial Neurogastrointestinal Encephalopathy [NCIt concept]
- Mitochondrial neurogastrointestinal encephalomyopathy [ORDO Disease]
- Mitochondrial neurogastrointestinal encephalopathy syndrome [MeSH concept]
- Oculogastrointestinal muscular dystrophy (disorder) [SNOMED CT concept]
- mitochondrial DNA depletion syndrome 1 [DO Concept]
- mitochondrial DNA depletion syndrome 1 [Disease (Nov.)]

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