Details of Disease | DrugMAP

General Information of Disease (ID: DISE61R5)

Disease Name	Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome
Synonyms	corneal intraepithelial dyskeratosis and ectodermal dysplasia, formerly; corneal intraepithelial dyskeratosis and ectodermal dysplasia; CIDED; MSPC; palmoplantar carcinoma, multiple self-healing; MSPC; palmoplantar carcinoma, multiple self-healing
Disease Hierarchy	DISPFJ0G: Superficial corneal dystrophy DIS6O9JS: Diffuse palmoplantar keratoderma DISE61R5: Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome
Disease Identifiers	MONDO ID MONDO_0014089 UMLS CUI C3808876 OMIM ID 615225 MedGen ID 815206 Orphanet ID 352662

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
NLRP1	TTQX29T	Limited	Genetic Variation	[1]
NLRP1	TTQX29T	Strong	Autosomal dominant	[1]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
NLRP1	OT4BNNOS	Strong	Autosomal dominant	[1]
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References

1	Germline NLRP1 Mutations Cause Skin Inflammatory and Cancer Susceptibility Syndromes via Inflammasome Activation. Cell. 2016 Sep 22;167(1):187-202.e17. doi: 10.1016/j.cell.2016.09.001.