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
Synonyms Mitochondrial Enoyl Coa Reductase Protein-Associated Neurodegeneration 24
Dystonia, Childhood-Onset, with Optic Atrophy and Basal Ganglia Abnormalities 53
Mitochondrial Enoyl Coa Reductase Protein-Associated Neurodegeneration 53
Dystonia 20, Childhood-Onset 53
Mepan Syndrome 53
Dytoabg 53
Dyt29 53
Mepan 24

Classifications:



Summaries for Mecr-Related Neurologic Disorder

MalaCards based summary : Mecr-Related Neurologic Disorder, also known as synonyms mitochondrial enoyl coa reductase protein-associated neurodegeneration, is related to dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities and 3-methylglutaconic aciduria, type iii. An important gene associated with Mecr-Related Neurologic Disorder is MECR (Mitochondrial Trans-2-Enoyl-CoA Reductase).

GeneReviews: NBK540959

Related Diseases for 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 dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities 13.2
2 3-methylglutaconic aciduria, type iii 10.2
3 yemenite deaf-blind hypopigmentation syndrome 10.2
4 chorea, childhood-onset, with psychomotor retardation 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

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. 4
27817865 2016
2
Defects in mitochondrial fatty acid synthesis result in failure of multiple aspects of mitochondrial biogenesis in Saccharomyces cerevisiae. 4
24102902 2013
3
Anesthetic considerations in patients with mitochondrial defects. 4
23534340 2013
4
Mitochondrial fatty acid synthesis type II: more than just fatty acids. 4
19028688 2009
5
MECR-Related Neurologic Disorder 38
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 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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