isolated anhidrosis with normal sweat glands
Findings
No curated finding names isolated anhidrosis with normal sweat glands yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any anhidrosis in which the cause of the disease is a mutation in the ITPR2 gene.
Definition from the Mondo Disease Ontology (MONDO:0007118), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
4 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Generalized anhidrosisHPOHP:0007459
- 5 of 5 reported patients
- Heat intoleranceHPOHP:0002046
- 5 of 5 reported patients
- Abnormal hair morphologyHPOHP:0001595
- 0 of 5 reported patients
- Growth abnormalityHPOHP:0001507
- 0 of 5 reported patients
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- ITPR2HGNC:6181
- Supportive · Orphanet · Autosomal recessive · 2021
- Limited · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2018
Where it sits
Other names
3 names
Resolves to: isolated anhidrosis with normal sweat glands
- Also called
- anhidrosis caused by mutation in ITPR2Dann-Epstein-Sohar syndromeITPR2 anhidrosis