You are using an outdated browser. Please upgrade your browser to improve your experience.
congenital insensitivity to pain-hypohidrosis syndrome
Disease Summary
Associated Targets (1)
Tbio
1
Mondo Description A hereditary sensory neuropathy characterized by congenital insensitivity to pain and decreased sweating and tear production that has material basis in homozygous mutation in the PRDM12 gene on chromosome 9q34.
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. HSAN8 patients manifest congenital insensitivity to pain resulting in ulceration to the fingers, tongue, lips, and other distal appendages. Some patients may also have decreased sweating and tear production.
Disease Ontology Description A hereditary sensory neuropathy characterized by congenital insensitivity to pain and decreased sweating and tear production that has_material_basis_in homozygous mutation in the PRDM12 gene on chromosome 9q34.
Mondo Term and Equivalent IDs
MONDO:0014662: congenital insensitivity to pain-hypohidrosis syndrome
Download Data for congenital insensitivity to pain-hypohidrosis syndrome
data still loading...
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:0070153
OMIM:616488
Orphanet:478664
UMLS:C4225308
MONDO:0014662
High level summary of knowledge for a disease, including descriptions and datasource references.