Details of Disease

General Information of Disease (ID: DISJ0VWY)

Disease Name Congenital insensitivity to pain-hypohidrosis syndrome
Synonyms
neuropathy, hereditary sensory and autonomic, type VIII; HSAN 8; neuropathy, hereditary sensory and autonomic, type 8; CIP-hypohidrosis syndrome; HSAN8; hereditary sensory and autonomic neuropathy type 8; hereditary sensory and autonomic neuropathy type VIII
Definition
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.
Disease Hierarchy
DIS2BIP8: Congenital nervous system disorder
DIS2VOAM: Hereditary sensory and autonomic neuropathy
DISJ0VWY: Congenital insensitivity to pain-hypohidrosis syndrome
Disease Identifiers
MONDO ID
MONDO_0014662
UMLS CUI
C4225308
OMIM ID
616488
MedGen ID
894363
Orphanet ID
478664
SNOMED CT ID
1172838005

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
PRDM12 OTOAUVAM Definitive Autosomal recessive [1]
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References

1 Transcriptional regulator PRDM12 is essential for human pain perception. Nat Genet. 2015 Jul;47(7):803-8. doi: 10.1038/ng.3308. Epub 2015 May 25.