Details of Disease | DrugMAP

General Information of Disease (ID: DIS6XLEB)

Disease Name	Isolated anhidrosis with normal sweat glands
Synonyms	anhidrosis, isolated, with normal sweat glands; isolated generalised anhidrosis with normal sweat glands; ANHD; isolated generalized anhidrosis with normal sweat glands; anhidrosis caused by mutation in ITPR2; ITPR2 anhidrosis; Dann-Epstein-Sohar syndrome
Definition	Any anhidrosis in which the cause of the disease is a mutation in the ITPR2 gene.
Disease Hierarchy	DISYLSTC: Anhidrosis DIS5HJ01: Subcutaneous tissue disorder DIS4SKIE: Dermis disorder DISSCALK: Hereditary skin disorder DIS6XLEB: Isolated anhidrosis with normal sweat glands
Disease Identifiers	MONDO ID MONDO_0007118 UMLS CUI C5568836 OMIM ID 106190 MedGen ID 1800259 Orphanet ID 468666 SNOMED CT ID 1187178004

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
ITPR2	TTK9OV3	Supportive	Autosomal recessive	[1]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ITPR2	OTPHGZ19	Supportive	Autosomal recessive	[1]
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References

1	Abolished InsP3R2 function inhibits sweat secretion in both humans and mice. J Clin Invest. 2014 Nov;124(11):4773-80. doi: 10.1172/JCI70720. Epub 2014 Oct 20.