Details of Disease

General Information of Disease (ID: DISO2E2T)

Disease Name Hereditary sensorimotor neuropathy with hyperelastic skin
Disease Hierarchy
DISR0X2K: Hereditary motor and sensory neuropathy
DISO2E2T: Hereditary sensorimotor neuropathy with hyperelastic skin
Disease Identifiers
MONDO ID
MONDO_0017237
UMLS CUI
C5190690
MedGen ID
1678654
Orphanet ID
280598
SNOMED CT ID
782881002

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
FBLN5 OTLVNZ8U Supportive Autosomal dominant [1]
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References

1 Fibulin-5 mutations link inherited neuropathies, age-related macular degeneration and hyperelastic skin. Brain. 2011 Jun;134(Pt 6):1839-52. doi: 10.1093/brain/awr076. Epub 2011 May 15.