Details of Disease | DrugMAP

General Information of Disease (ID: DIS0MINU)

Disease Name	Hereditary sensory and autonomic neuropathy type 6
Synonyms	HSAN 6; neuropathy, hereditary sensory and autonomic, type VI; neuropathy, hereditary sensory and autonomic, type 6; familial dysautonomia with contractures; hereditary sensory and autonomic neuropathy caused by mutation in DST; HSAN6; DST hereditary sensory and autonomic neuropathy; hereditary sensory and autonomic neuropathy type VI
Definition	Any hereditary sensory and autonomic neuropathy in which the cause of the disease is a mutation in the DST gene.
Disease Hierarchy	DIS2VOAM: Hereditary sensory and autonomic neuropathy DIS0MINU: Hereditary sensory and autonomic neuropathy type 6
Disease Identifiers	MONDO ID MONDO_0013839 UMLS CUI C3539003 OMIM ID 614653 MedGen ID 761278 Orphanet ID 314381 SNOMED CT ID 1279838005

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
DST	OTHZBM4X	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.