Details of Disease

General Information of Disease (ID: DISRHHY6)

Disease Name Neuropathy, hereditary sensory, type 1D
Synonyms hereditary sensory neuropathy type ID; neuropathy, hereditary sensory, type ID; hereditary sensory neuropathy type 1D; HSN1D
Definition
A hereditary sensory and autonomic neuropathy type 1 characterized by adult onset of a distal axonal sensory neuropathy that has material basis in heterozygous mutation in the ATL1 gene on chromosome 14q.
Disease Hierarchy
DISLSPO4: Hereditary sensory and autonomic neuropathy type 1
DISRHHY6: Neuropathy, hereditary sensory, type 1D
Disease Identifiers
MONDO ID
MONDO_0013381
UMLS CUI
C3150972
OMIM ID
613708
MedGen ID
462322

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
ATL1 OTR2788Y Definitive Autosomal dominant [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.