Details of Disease | DrugMAP

General Information of Disease (ID: DISX2SLW)

Disease Name	Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome
Synonyms	SHNS; SHAHEEN syndrome
Disease Hierarchy	DISCPWH9: Autosomal recessive disease DIS6O9JS: Diffuse palmoplantar keratoderma DISX2SLW: Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome
Disease Identifiers	MONDO ID MONDO_0014131 UMLS CUI C3809160 OMIM ID 615328 MedGen ID 815490 Orphanet ID 363523 SNOMED CT ID 773553003

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
COG6	OTDLQITC	Supportive	Autosomal recessive	[1]
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References

1	A novel syndrome of hypohidrosis and intellectual disability is linked to COG6 deficiency. J Med Genet. 2013 Jul;50(7):431-6. doi: 10.1136/jmedgenet-2013-101527. Epub 2013 Apr 20.