Details of Disease

General Information of Disease (ID: DISVT6KK)

Disease Name Congenital generalized hypercontractile muscle stiffness syndrome
Definition
This term's classification was reviewed in the context of the Strategic Refinement project (2023) and was determined to be excluded from the 'musculoskeletal system disorder' (MONDO:0002081) ontology branch (https://orcid.org/0000-0001-9310-0163)
Disease Hierarchy
DISQCXZX: Disorder of development or morphogenesis
DIS6SVEE: Syndromic disease
DISLSK9G: Congenital myopathy
DISVT6KK: Congenital generalized hypercontractile muscle stiffness syndrome
Disease Identifiers
MONDO ID
MONDO_0018780
UMLS CUI
C5567789
MedGen ID
1799212
Orphanet ID
476406
SNOMED CT ID
1174000008

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
TPM3 OT5RU5G6 Supportive Autosomal dominant [1]
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References

1 TPM3 deletions cause a hypercontractile congenital muscle stiffness phenotype. Ann Neurol. 2015 Dec;78(6):982-994. doi: 10.1002/ana.24535. Epub 2015 Nov 13.