Details of Disease

General Information of Disease (ID: DISZTO2L)

Disease Name Demyelinating hereditary motor and sensory neuropathy
Synonyms demyelinating HMSN; demyelinating hereditary motor and sensory neuropathy
Disease Hierarchy
DIS3BT2L: Charcot marie tooth disease
DISR0X2K: Hereditary motor and sensory neuropathy
DISZTO2L: Demyelinating hereditary motor and sensory neuropathy
Disease Identifiers
MONDO ID
MONDO_0018776
UMLS CUI
C5680106
MedGen ID
1843348
Orphanet ID
476116

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
FBLN5 OTLVNZ8U Moderate Autosomal dominant [1]
MTMR2 OTNCYGBP Definitive Autosomal recessive [1]
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References

1 Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.