DYTOABG
MCID: DYS187
MIFTS: 25

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 57 73 29 6 39
Dytoabg 57 73
Dyt29 57 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 57
Dystonia 29, Childhood-Onset 57
Mepan Syndrome 58
Dystonia 29 58

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
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® : 57 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) (Updated 05-Mar-2021)

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 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:

(showing 1, show less)
# Related Disease Score Top Affiliating Genes
1 mecr-related neurologic disorder 11.7

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

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Head And Neck Eyes:
nystagmus
visual impairment
optic atrophy
eye movement abnormalities

Abdomen Gastrointestinal:
dysphagia

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

Neurologic Central Nervous System:
ataxia
dysarthria
chorea
dyskinesia
myoclonus
more
Head And Neck Face:
facial dystonia

Clinical features from OMIM®:

617282 (Updated 05-Mar-2021)

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
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:

(showing 2, show less)
# Title Authors PMID Year
1
MECR Mutations Cause Childhood-Onset Dystonia and Optic Atrophy, a Mitochondrial Fatty Acid Synthesis Disorder. 6 57
27817865 2016
2
The diagnostic odyssey: our family's story. 61
33545028 2021

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 (showing 8, show less)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 MECR NM_016011.5(MECR):c.247_250del (p.Asn83fs) Deletion Pathogenic 374883 rs1057519287 1:29543124-29543127 1:29216612-29216615
2 MECR NM_016011.5(MECR):c.695G>A (p.Gly232Glu) SNV Pathogenic 374878 rs762913101 1:29528516-29528516 1:29202004-29202004
3 MECR NM_016011.5(MECR):c.854A>G (p.Tyr285Cys) SNV Pathogenic 374881 rs759218713 1:29522747-29522747 1:29196235-29196235
4 MECR NM_016011.5(MECR):c.855T>G (p.Tyr285Ter) SNV Pathogenic 374879 rs1057519286 1:29522746-29522746 1:29196234-29196234
5 MECR NM_016011.4(MECR):c.772C>T (p.Arg258Trp) SNV Pathogenic 374882 rs145192716 1:29527086-29527086 1:29200574-29200574
6 MECR NM_016011.5(MECR):c.830+2dup Duplication Pathogenic 449055 rs756421370 1:29527026-29527026 1:29200513-29200514
7 MECR NC_000001.11:g.29203234del Deletion Pathogenic 807442 rs1574315873 1:29529743-29529743 1:29203231-29203231
8 MECR NM_016011.4(MECR):c.-36-3G>C SNV 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 (showing 3, show less)
# 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
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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