Details of Disease

General Information of Disease (ID: DIS8LL6H)

Disease Name Neuropathy, hereditary motor and sensory, type 6B
Synonyms
hereditary motor and sensory neuropathy type 6 caused by mutation in SLC25A46; CMT6B; HMSN6B; Charcot-Marie-Tooth disease, type 6B; neuropathy, hereditary motor and sensory, type 6B; HMSN 6B; SLC25A46 hereditary motor and sensory neuropathy type 6; neuropathy, hereditary motor and sensory, type VIB
Definition Any hereditary motor and sensory neuropathy type 6 in which the cause of the disease is a mutation in the SLC25A46 gene.
Disease Hierarchy
DIS27OAR: Hereditary motor and sensory neuropathy type 6
DISVNBSJ: Motor peripheral neuropathy
DIS8LL6H: Neuropathy, hereditary motor and sensory, type 6B
Disease Identifiers
MONDO ID
MONDO_0014671
UMLS CUI
C4225302
OMIM ID
616505
MedGen ID
895482

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
SLC25A46 OTFEV9SV 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.