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DYTOABG
MCID: DYS187
MIFTS: 24
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Dystonia, Childhood-Onset, with Optic Atrophy and Basal Ganglia Abnormalities (DYTOABG)
Categories:
Eye diseases, Genetic diseases, Metabolic diseases, Neuronal diseases, Rare diseases
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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:
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:
MalaCards categories:
Global: Genetic diseases Metabolic diseases Rare diseases Anatomical: Neuronal diseases Eye diseases |
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OMIM
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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, eye and skeletal muscle, and related phenotypes are nystagmus and ataxia 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. |
Diseases related to Dystonia, Childhood-Onset, with Optic Atrophy and Basal Ganglia Abnormalities via text searches within MalaCards or GeneCards Suite gene sharing:
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Symptoms & Phenotypes for Dystonia, Childhood-Onset, with Optic Atrophy and Basal Ganglia...
Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:617282Human phenotypes related to Dystonia, Childhood-Onset, with Optic Atrophy and Basal Ganglia Abnormalities:32 (show all 14)
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MalaCards organs/tissues related to Dystonia, Childhood-Onset, with Optic Atrophy and Basal Ganglia Abnormalities:41
Brain,
Eye,
Skeletal Muscle
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Genes related to Dystonia, Childhood-Onset, with Optic Atrophy and Basal Ganglia Abnormalities (1 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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UniProtKB/Swiss-Prot genetic disease variations for Dystonia, Childhood-Onset, with Optic Atrophy and Basal Ganglia Abnormalities:75
ClinVar genetic disease variations for Dystonia, Childhood-Onset, with Optic Atrophy and Basal Ganglia Abnormalities:6 (show all 15)
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Search
GEO
for disease gene expression data for Dystonia, Childhood-Onset, with Optic Atrophy and Basal Ganglia Abnormalities.
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