deafness-dystonia-optic neuronopathy syndrome

Summary
Synonym
  • Deafness Dystonia Optic Atrophy Syndrome
  • Deafness Dystonia Optic Neuronopathy Syndrome
  • Dystonia Deafness Syndrome
  • Jensen syndrome
  • Mohr-Tranebjaerg syndrome
  • deafness dystonia syndrome
Definition
A mitochondrial metabolism disease that is characterized by hearing loss that begins early in life, problems with movement, impaired vision, and behavior problems, and has_material_basis_in mutations in the TIMM8A gene resulting in abnormal protein transport within the mitochondria.
Super Class
mitochondrial metabolism disease
External Links
Disease Ontology
DOID:0050757
Mondo Disease Ontology
MeSH
ORDO
OMIM
Related Genes
Displaying entries 1 - 10 of 13 in total
Gene ID Gene Symbol Description Source
142 PARP1 poly(ADP-ribose) polymerase 1
231 AKR1B1 aldo-keto reductase family 1 member B
1113 CHGA chromogranin A
4360 MRC1 mannose receptor C-type 1
4595 MUTYH mutY DNA glycosylase
5290 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha
5291 PIK3CB phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta
5293 PIK3CD phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta
5294 PIK3CG phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma
6392 SDHD succinate dehydrogenase complex subunit D

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024