Details of Disease

General Information of Disease (ID: DISRE1CN)

Disease Name Proximal myopathy with extrapyramidal signs
Synonyms MPXPS; myopathy with extrapyramidal signs
Definition
Proximal myopathy with extrapyramidal signs is a rare, hereditary non-dystrophic myopathy characterized by proximal muscle weakness, delayed motor development, learning difficulties, and progressive extrapyramidal motor signs including chorea, dystonia and tremor. Variable additional features have been reported - ataxia, microcephaly, ophthalmoplegia, ptosis, and optic atrophy.
Disease Hierarchy
DISD715V: Hereditary neurological disease
DISU0K94: Hereditary skeletal muscle disorder
DISOWG27: Myopathy
DISOJJ2D: Movement disorder
DISRE1CN: Proximal myopathy with extrapyramidal signs
Disease Identifiers
MONDO ID
MONDO_0014300
UMLS CUI
C3810285
OMIM ID
615673
MedGen ID
816615
Orphanet ID
401768

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
MICU1 OTS7N0LE Definitive Autosomal recessive [1]
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References

1 Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.