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hereditary sensory and autonomic neuropathy type 6

Disease Summary
Associated Targets (1)
Tbio

1


Mondo Description Any hereditary sensory and autonomic neuropathy in which the cause of the disease is a mutation in the DST gene.
Uniprot Description A form of hereditary sensory and autonomic neuropathy, a genetically and clinically heterogeneous group of disorders characterized by degeneration of dorsal root and autonomic ganglion cells, and by sensory and/or autonomic abnormalities. HSAN6 is a severe autosomal recessive disorder characterized by neonatal hypotonia, respiratory and feeding difficulties, lack of psychomotor development, and autonomic abnormalities including labile cardiovascular function, lack of corneal reflexes leading to corneal scarring, areflexia, and absent axonal flare response after intradermal histamine injection.
Disease Ontology Description A hereditary sensory neuropathy characterized by neonatal hypotonia, respiratory and feeding difficulties, impaired psychomotor development, and autonomic abnormalities that has_material_basis_in homozygous mutation in the DST gene on chromosome 6p12.
Mondo Term and Equivalent IDs
MONDO:0013839:  hereditary sensory and autonomic neuropathy type 6
Orphanet:314381: 
UMLS:C3539003: