DYT29
MCID: MCR373
MIFTS: 11

Mecr-Related Neurologic Disorder (DYT29)

Categories: Eye diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Mecr-Related Neurologic Disorder

MalaCards integrated aliases for Mecr-Related Neurologic Disorder:

Name: Mecr-Related Neurologic Disorder 24
Mitochondrial Enoyl Coa Reductase Protein-Associated Neurodegeneration 24 52
Dystonia, Childhood-Onset, with Optic Atrophy and Basal Ganglia Abnormalities 52
Dystonia 20, Childhood-Onset 52
Mepan Syndrome 52
Dytoabg 52
Dyt29 52
Mepan 24

Classifications:



Summaries for Mecr-Related Neurologic Disorder

MalaCards based summary : Mecr-Related Neurologic Disorder, also known as mitochondrial enoyl coa reductase protein-associated neurodegeneration, is related to 3-methylglutaconic aciduria, type iii and yemenite deaf-blind hypopigmentation syndrome. An important gene associated with Mecr-Related Neurologic Disorder is MECR (Mitochondrial Trans-2-Enoyl-CoA Reductase). Affiliated tissues include eye.

GeneReviews: NBK540959

Related Diseases for Mecr-Related Neurologic Disorder

Diseases in the Atp1a3-Related Neurologic Disorders family:

Mecr-Related Neurologic Disorder

Diseases related to Mecr-Related Neurologic Disorder via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 3-methylglutaconic aciduria, type iii 10.2
2 yemenite deaf-blind hypopigmentation syndrome 10.2
3 chorea, childhood-onset, with psychomotor retardation 10.2
4 dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities 10.2
5 choreatic disease 10.2
6 dystonia 10.2

Graphical network of the top 20 diseases related to Mecr-Related Neurologic Disorder:



Diseases related to Mecr-Related Neurologic Disorder

Symptoms & Phenotypes for Mecr-Related Neurologic Disorder

Drugs & Therapeutics for Mecr-Related Neurologic Disorder

Search Clinical Trials , NIH Clinical Center for Mecr-Related Neurologic Disorder

Genetic Tests for Mecr-Related Neurologic Disorder

Anatomical Context for Mecr-Related Neurologic Disorder

MalaCards organs/tissues related to Mecr-Related Neurologic Disorder:

40
Eye

Publications for Mecr-Related Neurologic Disorder

Articles related to Mecr-Related Neurologic Disorder:

# Title Authors PMID Year
1
MECR Mutations Cause Childhood-Onset Dystonia and Optic Atrophy, a Mitochondrial Fatty Acid Synthesis Disorder. 24
27817865 2016
2
Defects in mitochondrial fatty acid synthesis result in failure of multiple aspects of mitochondrial biogenesis in Saccharomyces cerevisiae. 24
24102902 2013
3
Anesthetic considerations in patients with mitochondrial defects. 24
23534340 2013
4
Mitochondrial fatty acid synthesis type II: more than just fatty acids. 24
19028688 2009
5
MECR-Related Neurologic Disorder 61
31070877 2019

Variations for Mecr-Related Neurologic Disorder

Expression for Mecr-Related Neurologic Disorder

Search GEO for disease gene expression data for Mecr-Related Neurologic Disorder.

Pathways for Mecr-Related Neurologic Disorder

GO Terms for Mecr-Related Neurologic Disorder

Sources for Mecr-Related Neurologic Disorder

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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