MCID: DYS187
MIFTS: 22

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

Categories: Genetic diseases, Eye 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 75 29 6
Dytoabg 57 75
Dystonia 29, Childhood-Onset; Dyt29 57
Dystonia 29, Childhood-Onset 57
Dyt29 57

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:
Onset and clinical course variable expressivity progressive
Inheritance autosomal recessive inheritance


Classifications:



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 mepan syndrome. 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, skeletal muscle and eye, and related phenotypes are visual impairment and nystagmus

UniProtKB/Swiss-Prot : 75 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 mepan syndrome 11.6

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

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

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

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

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, Skeletal Muscle, Eye

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

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

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

75
# 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

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

6
(show all 15)
# Gene Variation Type Significance SNP ID Assembly Location
1 MECR NM_016011.4(MECR): c.695G> A (p.Gly232Glu) single nucleotide variant Likely pathogenic rs762913101 GRCh38 Chromosome 1, 29202004: 29202004
2 MECR NM_016011.4(MECR): c.695G> A (p.Gly232Glu) single nucleotide variant Likely pathogenic rs762913101 GRCh37 Chromosome 1, 29528516: 29528516
3 MECR NM_016011.4(MECR): c.855T> G (p.Tyr285Ter) single nucleotide variant Pathogenic rs1057519286 GRCh38 Chromosome 1, 29196234: 29196234
4 MECR NM_016011.4(MECR): c.855T> G (p.Tyr285Ter) single nucleotide variant Pathogenic rs1057519286 GRCh37 Chromosome 1, 29522746: 29522746
5 MECR NM_016011.3(MECR): c.830+2_830+3insT insertion Pathogenic
6 MECR NM_016011.4(MECR): c.854A> G (p.Tyr285Cys) single nucleotide variant Pathogenic rs759218713 GRCh38 Chromosome 1, 29196235: 29196235
7 MECR NM_016011.4(MECR): c.854A> G (p.Tyr285Cys) single nucleotide variant Pathogenic rs759218713 GRCh37 Chromosome 1, 29522747: 29522747
8 MECR NM_016011.3(MECR): c.772C> T single nucleotide variant Pathogenic rs145192716 GRCh38 Chromosome 1, 29200574: 29200574
9 MECR NM_016011.3(MECR): c.772C> T single nucleotide variant Pathogenic rs145192716 GRCh37 Chromosome 1, 29527086: 29527086
10 MECR NM_016011.4(MECR): c.247_250delAATC (p.Asn83Hisfs) deletion Pathogenic rs1057519287 GRCh37 Chromosome 1, 29543124: 29543127
11 MECR NM_016011.4(MECR): c.247_250delAATC (p.Asn83Hisfs) deletion Pathogenic rs1057519287 GRCh38 Chromosome 1, 29216612: 29216615
12 MECR NM_016011.4(MECR): c.830+2dup duplication Pathogenic/Likely pathogenic GRCh37 Chromosome 1, 29527026: 29527026
13 MECR NM_016011.4(MECR): c.830+2dup duplication Pathogenic/Likely pathogenic GRCh38 Chromosome 1, 29200514: 29200514
14 MECR NM_016011.4(MECR): c.-36-3G> C single nucleotide variant Uncertain significance rs749435497 GRCh37 Chromosome 1, 29557457: 29557457
15 MECR NM_016011.4(MECR): c.-36-3G> C single nucleotide variant Uncertain significance rs749435497 GRCh38 Chromosome 1, 29230945: 29230945

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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