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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
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Counts of Target Development Levels for diseases known to be associated with this disease. If the disease has a valid DOID, targets known to be associated with all child diseases are aggregated. Click "Explore Associated Targets" to view more facets and details for the target list.
Description from Mondo Disease Ontology.
Description from UniProt.
Description from Disease Ontology
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
DOID:0070151
OMIM:614653
Orphanet:314381
UMLS:C3539003
MONDO:0013839
High level summary of knowledge for a disease, including descriptions and datasource references.