Details of Disease

General Information of Disease (ID: DISAO9DJ)

Disease Name Neuropathy, hereditary sensory and autonomic, type 1C
Synonyms
neuropathy, hereditary sensory and autonomic, type IC; HSAN 1C; hereditary sensory and autonomic neuropathy type 1C; HSN 1C; neuropathy, hereditary sensory, type 1C; HSAN1C; hereditary sensory and autonomic neuropathy type IC
Definition A hereditary sensory and autonomic neuropathy type 1 that has material basis in heterozygous mutation in the SPTLC2 gene on chromosome 14q24.
Disease Hierarchy
DISLSPO4: Hereditary sensory and autonomic neuropathy type 1
DISAO9DJ: Neuropathy, hereditary sensory and autonomic, type 1C
Disease Identifiers
MONDO ID
MONDO_0013337
UMLS CUI
C3150896
OMIM ID
613640
MedGen ID
462246
SNOMED CT ID
860814001

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
SPTLC2 OTBTMH1Z 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.