Details of Disease

General Information of Disease (ID: DISVPV9N)

Disease Name Charcot-Marie-Tooth disease, demyelinating, IIA 1H
Synonyms
hereditary motor and sensory neuropathy, 1h; CMT1H; Charcot-Marie-Tooth neuropathy, IIA 1H; Charcot-Marie-Tooth disease, demyelinating, IIA 1H; neuropathy, hereditary, with or without age-related macular degeneration
Disease Hierarchy
DIS3BT2L: Charcot marie tooth disease
DISVPV9N: Charcot-Marie-Tooth disease, demyelinating, IIA 1H
Disease Identifiers
MONDO ID
MONDO_0030689
UMLS CUI
C5676926
OMIM ID
619764
MedGen ID
1804752

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 Strong 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.