Details of Disease

General Information of Disease (ID: DISYLSTC)

• Disease Name: Anhidrosis
• Synonyms: absence of sweating; adiaphoresis
• Definition: Lack of sweating or the ability to sweat when provoked by the appropriate stimulus.
• Disease Hierarchy:
  DISF0KTG: Sweat gland disorder
  DISYLSTC: Anhidrosis
• Disease Identifiers:
  MONDO ID: MONDO_0006527
  MESH ID: D007007
  UMLS CUI: C0003028
  MedGen ID: 1550
  HPO ID: HP:0000970
  SNOMED CT ID: 14662005

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 6 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
CRLF1	TT6YF5K	Disputed	Genetic Variation	[1]
ITPR2	TTK9OV3	moderate	Biomarker	[2]
NGF	TTDN3LF	Strong	Biomarker	[3]
NTRK1	TTTDVOJ	Strong	Genetic Variation	[4]
ORAI1	TTE76YK	Strong	Biomarker	[5]
SCN9A	TT4G2JS	Strong	Genetic Variation	[6]

This Disease Is Related to 1 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
SLC35A1	DTVZIRG	Disputed	Biomarker	[7]

This Disease Is Related to 6 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
GAL3ST1	OTSFFZRD	Limited	Biomarker	[7]
COG6	OTDLQITC	Disputed	Genetic Variation	[1]
DCD	OTV5PBGJ	Disputed	Altered Expression	[8]
NAA50	OTFJ8S47	Disputed	Biomarker	[9]
EDA	OTAKS5WS	moderate	Genetic Variation	[10]
IKBKG	OTNWJWSD	Strong	Genetic Variation	[11]

References

• [1] Crisponi/CISS1 syndrome: A case series.Am J Med Genet A. 2016 May;170A(5):1236-41. doi: 10.1002/ajmg.a.37569. Epub 2016 Jan 24.
• [2] 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.
• [3] Neurobiology of pain, interoception and emotional response: lessons from nerve growth factor-dependent neurons.Eur J Neurosci. 2014 Feb;39(3):375-91. doi: 10.1111/ejn.12448.
• [4] Novel 9 amino acid in-frame deletion in the NTRK1 tyrosine kinase domain in a patient with congenital insensitivity to pain with anhydrosis.Clin Genet. 2017 Nov;92(5):559-560. doi: 10.1111/cge.13064. Epub 2017 Sep 21.
• [5] ORAI1 mutations abolishing store-operated Ca(2+) entry cause anhidrotic ectodermal dysplasia with immunodeficiency.J Allergy Clin Immunol. 2018 Oct;142(4):1297-1310.e11. doi: 10.1016/j.jaci.2017.10.031. Epub 2017 Nov 16.
• [6] Autonomic dysfunction in SCN9A-associated primary erythromelalgia.Clin Auton Res. 2013 Apr;23(2):105-7. doi: 10.1007/s10286-012-0181-7. Epub 2012 Nov 15.
• [7] Anhidrosis and absence of sweat glands in mice hemizygous for the Tabby gene: supportive evidence for the hypothesis of homology between Tabby and human anhidrotic (hypohidrotic) ectodermal dysplasia (Christ-Siemens-Touraine syndrome).J Invest Dermatol. 1986 Dec;87(6):720-2. doi: 10.1111/1523-1747.ep12456718.
• [8] Degranulation and shrinkage of dark cells in eccrine glands and elevated serum carcinoembryonic antigen in patients with acquired idiopathic generalized anhidrosis.J Eur Acad Dermatol Venereol. 2017 Dec;31(12):2097-2103. doi: 10.1111/jdv.14443. Epub 2017 Jul 20.
• [9] Exome sequencing identifies novel NTRK1 mutations in patients with HSAN-IV phenotype.Am J Med Genet A. 2017 Apr;173(4):1009-1016. doi: 10.1002/ajmg.a.38120.
• [10] Sweating ability and genotype in individuals with X-linked hypohidrotic ectodermal dysplasia.J Med Genet. 2011 Jun;48(6):426-32. doi: 10.1136/jmg.2010.084012. Epub 2011 Feb 26.
• [11] Recruitment of A20 by the C-terminal domain of NEMO suppresses NF-B activation and autoinflammatory disease.Proc Natl Acad Sci U S A. 2016 Feb 9;113(6):1612-7. doi: 10.1073/pnas.1518163113. Epub 2016 Jan 22.