DYTOABG
MCID: DYS187
MIFTS: 27

Dystonia, Childhood-Onset, with Optic Atrophy and Basal Ganglia Abnormalities (DYTOABG)

Categories: Eye diseases, Genetic diseases, Metabolic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Dystonia, Childhood-Onset, with Optic Atrophy and Basal Ganglia...

MalaCards integrated aliases for Dystonia, Childhood-Onset, with Optic Atrophy and Basal Ganglia Abnormalities:

Name: Dystonia, Childhood-Onset, with Optic Atrophy and Basal Ganglia Abnormalities 56 73 29 6 39
Dytoabg 56 73
Dyt29 56 58
Mitochondrial Enoyl Coa Reductase Protein-Associated Neurodegeneration Syndrome 58
Childhood-Onset Generalized Dystonia-Optic Atrophy Syndrome 58
Autosomal Recessive Childhood-Onset Dystonia, Dyt29 Type 58
Dystonia 29, Childhood-Onset; Dyt29 56
Dystonia 29, Childhood-Onset 56
Mepan Syndrome 58
Dystonia 29 58

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
variable severity
progressive disorder
onset in early childhood


HPO:

31
dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities:
Inheritance autosomal recessive inheritance
Onset and clinical course variable expressivity progressive


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare eye diseases
Inborn errors of metabolism


Summaries for Dystonia, Childhood-Onset, with Optic Atrophy and Basal Ganglia...

OMIM : 56 Childhood-onset dystonia with optic atrophy and basal ganglia abnormalities is an autosomal recessive neurologic disorder characterized by onset of involuntary movements in the first decade of life. Optic atrophy develops around the same time or slightly later. Severity is variable, and some patients lose independent ambulation. Brain imaging shows abnormalities in the basal ganglia. Cognition appears to be unaffected (summary by Heimer et al., 2016). (617282)

MalaCards based summary : Dystonia, Childhood-Onset, with Optic Atrophy and Basal Ganglia Abnormalities, also known as dytoabg, is related to mecr-related neurologic disorder. An important gene associated with Dystonia, Childhood-Onset, with Optic Atrophy and Basal Ganglia Abnormalities is MECR (Mitochondrial Trans-2-Enoyl-CoA Reductase). Affiliated tissues include brain, eye and skeletal muscle, and related phenotypes are spasticity and motor delay

UniProtKB/Swiss-Prot : 73 Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities: An autosomal recessive neurologic disorder characterized by childhood- onset dystonia, basal ganglia degeneration and optic atrophy with decreased visual acuity. Dystonia is defined by the presence of sustained involuntary muscle contraction, often leading to abnormal postures. DYTOABG severity is variable, and some patients lose independent ambulation.

Related Diseases for Dystonia, Childhood-Onset, with Optic Atrophy and Basal Ganglia...

Diseases related to Dystonia, Childhood-Onset, with Optic Atrophy and Basal Ganglia Abnormalities via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 mecr-related neurologic disorder 11.9

Symptoms & Phenotypes for Dystonia, Childhood-Onset, with Optic Atrophy and Basal Ganglia...

Human phenotypes related to Dystonia, Childhood-Onset, with Optic Atrophy and Basal Ganglia Abnormalities:

31 (show all 14)
# Description HPO Frequency HPO Source Accession
1 spasticity 31 occasional (7.5%) HP:0001257
2 motor delay 31 occasional (7.5%) HP:0001270
3 dyskinesia 31 HP:0100660
4 visual impairment 31 HP:0000505
5 optic atrophy 31 HP:0000648
6 gait disturbance 31 HP:0001288
7 dysphagia 31 HP:0002015
8 ataxia 31 HP:0001251
9 nystagmus 31 HP:0000639
10 myoclonus 31 HP:0001336
11 hyperreflexia 31 HP:0001347
12 dysarthria 31 HP:0001260
13 chorea 31 HP:0002072
14 craniofacial dystonia 31 HP:0012179

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
dyskinesia
ataxia
myoclonus
dysarthria
involuntary movements
more
Abdomen Gastrointestinal:
dysphagia

Laboratory Abnormalities:
increased lactate in the central nervous system
mild decreases in mitochondrial respiratory activity in skeletal muscle and fibroblasts

Head And Neck Eyes:
visual impairment
optic atrophy
nystagmus
eye movement abnormalities

Head And Neck Face:
facial dystonia

Clinical features from OMIM:

617282

Drugs & Therapeutics for Dystonia, Childhood-Onset, with Optic Atrophy and Basal Ganglia...

Search Clinical Trials , NIH Clinical Center for Dystonia, Childhood-Onset, with Optic Atrophy and Basal Ganglia Abnormalities

Genetic Tests for Dystonia, Childhood-Onset, with Optic Atrophy and Basal Ganglia...

Genetic tests related to Dystonia, Childhood-Onset, with Optic Atrophy and Basal Ganglia Abnormalities:

# Genetic test Affiliating Genes
1 Dystonia, Childhood-Onset, with Optic Atrophy and Basal Ganglia Abnormalities 29 MECR

Anatomical Context for Dystonia, Childhood-Onset, with Optic Atrophy and Basal Ganglia...

MalaCards organs/tissues related to Dystonia, Childhood-Onset, with Optic Atrophy and Basal Ganglia Abnormalities:

40
Brain, Eye, Skeletal Muscle

Publications for Dystonia, Childhood-Onset, with Optic Atrophy and Basal Ganglia...

Articles related to Dystonia, Childhood-Onset, with Optic Atrophy and Basal Ganglia Abnormalities:

# Title Authors PMID Year
1
MECR Mutations Cause Childhood-Onset Dystonia and Optic Atrophy, a Mitochondrial Fatty Acid Synthesis Disorder. 56 6
27817865 2016
2
MECR-Related Neurologic Disorder 6
31070877 2019
3
Hereditary Dystonia Overview 6
20301334 2003
4
The impact and prognosis for dystonia in childhood including dystonic cerebral palsy: a clinical and demographic tertiary cohort study. 61
24591458 2014
5
Phenomenology of psychogenic movement disorders in children. 61
22407521 2012
6
The syndrome of fixed dystonia: an evaluation of 103 patients. 61
15342362 2004
7
[Hemo- and neurodynamics of the human brain during exposure to moderate hypoxic hypoxia]. 61
6482367 1984

Variations for Dystonia, Childhood-Onset, with Optic Atrophy and Basal Ganglia...

ClinVar genetic disease variations for Dystonia, Childhood-Onset, with Optic Atrophy and Basal Ganglia Abnormalities:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 MECR NC_000001.11:g.29203234deldeletion Pathogenic 807442 1:29529743-29529743 1:29203231-29203231
2 MECR NM_016011.4(MECR):c.772C>T (p.Arg258Trp)SNV Pathogenic 374882 rs145192716 1:29527086-29527086 1:29200574-29200574
3 MECR NM_016011.5(MECR):c.247_250del (p.Asn83fs)deletion Pathogenic 374883 rs1057519287 1:29543124-29543127 1:29216612-29216615
4 MECR NM_016011.5(MECR):c.855T>G (p.Tyr285Ter)SNV Pathogenic/Likely pathogenic 374879 rs1057519286 1:29522746-29522746 1:29196234-29196234
5 MECR NM_016011.5(MECR):c.854A>G (p.Tyr285Cys)SNV Pathogenic/Likely pathogenic 374881 rs759218713 1:29522747-29522747 1:29196235-29196235
6 MECR NM_016011.5(MECR):c.830+2dupduplication Pathogenic/Likely pathogenic 449055 rs756421370 1:29527026-29527026 1:29200513-29200514
7 MECR NM_016011.5(MECR):c.695G>A (p.Gly232Glu)SNV Likely pathogenic 374878 rs762913101 1:29528516-29528516 1:29202004-29202004
8 MECR NM_016011.4(MECR):c.-36-3G>CSNV Uncertain significance 522856 rs749435497 1:29557457-29557457 1:29230945-29230945

UniProtKB/Swiss-Prot genetic disease variations for Dystonia, Childhood-Onset, with Optic Atrophy and Basal Ganglia Abnormalities:

73
# Symbol AA change Variation ID SNP ID
1 MECR p.Gly232Glu VAR_077997 rs762913101
2 MECR p.Arg258Trp VAR_077998 rs145192716
3 MECR p.Tyr285Cys VAR_078000 rs759218713

Expression for Dystonia, Childhood-Onset, with Optic Atrophy and Basal Ganglia...

Search GEO for disease gene expression data for Dystonia, Childhood-Onset, with Optic Atrophy and Basal Ganglia Abnormalities.

Pathways for Dystonia, Childhood-Onset, with Optic Atrophy and Basal Ganglia...

GO Terms for Dystonia, Childhood-Onset, with Optic Atrophy and Basal Ganglia...

Sources for Dystonia, Childhood-Onset, with Optic Atrophy and Basal Ganglia...

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
Content
Loading form....