Details of Disease | DrugMAP

General Information of Disease (ID: DISSVF3S)

Disease Name	Isolated hyperchlorhidrosis
Synonyms	hyperchlorhidrosis, isolated; isolated hyperchlorhidrosis
Disease Hierarchy	DISCPWH9: Autosomal recessive disease DISQNSIX: Hereditary epidermal appendage anomaly DISSCALK: Hereditary skin disorder DISSVF3S: Isolated hyperchlorhidrosis
Disease Identifiers	MONDO ID MONDO_0007747 UMLS CUI C1840437 OMIM ID 143860 MedGen ID 333560 Orphanet ID 542657 SNOMED CT ID 709413001

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
CA12	TTSYM0R	Limited	CausalMutation	[1]
CA12	TTSYM0R	Strong	Autosomal recessive	[2]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
CA12	OT6WNFU8	Strong	Autosomal recessive	[2]
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References

1	Loss of carbonic anhydrase XII function in individuals with elevated sweat chloride concentration and pulmonary airway disease.Hum Mol Genet. 2016 May 15;25(10):1923-1933. doi: 10.1093/hmg/ddw065. Epub 2016 Feb 23.
2	Hyperchlorhidrosis caused by homozygous mutation in CA12, encoding carbonic anhydrase XII. Am J Hum Genet. 2010 Nov 12;87(5):713-20. doi: 10.1016/j.ajhg.2010.10.008. Epub 2010 Oct 28.