Details of Disease | DrugMAP

General Information of Disease (ID: DISSPS92)

Disease Name	Congenital insensitivity to pain with severe intellectual disability
Synonyms	congenital insensitivity to pain with preserved temperature sensation; congenital absence of pain with severe intellectual disability; congenital insensitivity to pain with severe non-progressive cognitive delay; congenital analgesia with severe intellectual disability
Disease Hierarchy	DIS2BIP8: Congenital nervous system disorder DISD715V: Hereditary neurological disease DISSPS92: Congenital insensitivity to pain with severe intellectual disability
Disease Identifiers	MONDO ID MONDO_0018682 UMLS CUI C5679994 MedGen ID 1814444 Orphanet ID 453510 SNOMED CT ID 1237623009

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
CLTCL1	OT6W5BNR	Supportive	Autosomal recessive	[1]
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References

1	A novel disorder reveals clathrin heavy chain-22 is essential for human pain and touch development. Brain. 2015 Aug;138(Pt 8):2147-60. doi: 10.1093/brain/awv149. Epub 2015 Jun 11.