DYTOABG
MCID: DYS187
MIFTS: 26

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 74 29 6 40
Dytoabg 57 74
Dyt29 57 59
Mitochondrial Enoyl Coa Reductase Protein-Associated Neurodegeneration Syndrome 59
Childhood-Onset Generalized Dystonia-Optic Atrophy Syndrome 59
Autosomal Recessive Childhood-Onset Dystonia, Dyt29 Type 59
Dystonia 29, Childhood-Onset; Dyt29 57
Dystonia 29, Childhood-Onset 57
Mepan Syndrome 59
Dystonia 29 59

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
variable severity
progressive disorder
onset in early childhood


HPO:

32
dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities:
Inheritance autosomal recessive inheritance
Onset and clinical course variable expressivity progressive


Classifications:



External Ids:

Orphanet 59 ORPHA508093

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)

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 : 74 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:

32 (show all 14)
# Description HPO Frequency HPO Source Accession
1 spasticity 32 occasional (7.5%) HP:0001257
2 motor delay 32 occasional (7.5%) HP:0001270
3 nystagmus 32 HP:0000639
4 ataxia 32 HP:0001251
5 dysarthria 32 HP:0001260
6 gait disturbance 32 HP:0001288
7 hyperreflexia 32 HP:0001347
8 dysphagia 32 HP:0002015
9 chorea 32 HP:0002072
10 dyskinesia 32 HP:0100660
11 visual impairment 32 HP:0000505
12 optic atrophy 32 HP:0000648
13 myoclonus 32 HP:0001336
14 craniofacial dystonia 32 HP:0012179

Symptoms via clinical synopsis from OMIM:

57
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

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:

41
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. 8 71
27817865 2016
2
Hereditary Dystonia Overview 71
20301334 2003
3
The impact and prognosis for dystonia in childhood including dystonic cerebral palsy: a clinical and demographic tertiary cohort study. 38
24591458 2014
4
Phenomenology of psychogenic movement disorders in children. 38
22407521 2012
5
The syndrome of fixed dystonia: an evaluation of 103 patients. 38
15342362 2004
6
[Hemo- and neurodynamics of the human brain during exposure to moderate hypoxic hypoxia]. 38
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 Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 MECR NM_016011.3(MECR): c.830+2_830+3insT insertion Pathogenic
2 MECR NM_016011.5(MECR): c.854A> G (p.Tyr285Cys) single nucleotide variant Pathogenic/Likely pathogenic rs759218713 1:29522747-29522747 1:29196235-29196235
3 MECR NM_016011.4(MECR): c.772C> T (p.Arg258Trp) single nucleotide variant Pathogenic/Likely pathogenic rs145192716 1:29527086-29527086 1:29200574-29200574
4 MECR NM_016011.5(MECR): c.247_250del (p.Asn83fs) deletion Pathogenic/Likely pathogenic rs1057519287 1:29543124-29543127 1:29216612-29216615
5 MECR NM_016011.4(MECR): c.830+2dup duplication Pathogenic/Likely pathogenic rs756421370 1:29527026-29527026 1:29200514-29200514
6 MECR NM_016011.5(MECR): c.855T> G (p.Tyr285Ter) single nucleotide variant Pathogenic/Likely pathogenic rs1057519286 1:29522746-29522746 1:29196234-29196234
7 MECR NM_016011.5(MECR): c.695G> A (p.Gly232Glu) single nucleotide variant Likely pathogenic rs762913101 1:29528516-29528516 1:29202004-29202004
8 MECR NM_016011.4(MECR): c.-36-3G> C single nucleotide variant Uncertain significance rs749435497 1:29557457-29557457 1:29230945-29230945

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

74
# 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...

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