Details of Disease

General Information of Disease (ID: DIS4S4WQ)

Disease Name Cap myopathy
Synonyms congenital myopathy with caps; Cap disease
Definition
Cap myopathy is a very rare congenital myopathy presenting a weakness of facial and respiratory muscles associated with craniofacial and thoracic deformities, as well as weakness of limb proximal and distal muscles. Onset is at birth or in childhood, weakness progression is slow but may lead to a severe and even fatal prognosis.
Disease Hierarchy
DISE0PV2: Alpha-actinopathy
DIS1FW68: TPM3-related myopathy
DIS4S4WQ: Cap myopathy
Disease Identifiers
MONDO ID
MONDO_0015753
MESH ID
C579969
UMLS CUI
C3710589
MedGen ID
777197
Orphanet ID
171881
SNOMED CT ID
703532002

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 6 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
ACTA1 OTOVGLPG Limited Genetic Variation [1]
SELENON OTSGKO5M Limited Biomarker [2]
MYPN OTHTOFDU Supportive Autosomal dominant [3]
TPM2 OTA1L0P8 Supportive Autosomal dominant [4]
TPM3 OT5RU5G6 Supportive Autosomal dominant [5]
NEB OT7P9IR3 Definitive Genetic Variation [6]
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⏷ Show the Full List of 6 DOT(s)

References

1 Combined cap disease and nemaline myopathy in the same patient caused by an autosomal dominant mutation in the TPM3 gene.Neuromuscul Disord. 2013 Dec;23(12):992-7. doi: 10.1016/j.nmd.2013.07.003. Epub 2013 Oct 2.
2 Congenital myopathies.Curr Opin Neurol. 2007 Oct;20(5):583-9. doi: 10.1097/WCO.0b013e3282ef6e69.
3 Recessive MYPN mutations cause cap myopathy with occasional nemaline rods. Ann Neurol. 2017 Mar;81(3):467-473. doi: 10.1002/ana.24900. Epub 2017 Mar 20.
4 Nemaline Myopathy C RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY. 2002 Jun 19 [updated 2015 Jun 11]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews(?) [Internet]. Seattle (WA): University of Washington, Seattle; 1993C2024.
5 Evidence for a dominant negative disease mechanism in cap myopathy due to TPM3. Neuromuscul Disord. 2010 Jul;20(7):464-6. doi: 10.1016/j.nmd.2010.05.012. Epub 2010 Jun 15.
6 Congenital myopathy with cap-like structures and nemaline rods: case report and literature review.Pediatr Neurol. 2014 Aug;51(2):192-7. doi: 10.1016/j.pediatrneurol.2014.04.002. Epub 2014 Apr 12.