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isolated anhidrosis with normal sweat glands - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

isolated anhidrosis with normal sweat glands

MONDO:0007118

Also known as:Dann-Epstein-Sohar syndromeITPR2 anhidrosisanhidrosis caused by mutation in ITPR2

Overview

Any anhidrosis in which the cause of the disease is a mutation in the ITPR2 gene.

GeneticsAutosomal recessive · ITPR2 (chr 12)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include always present findings: Heat intolerance and Generalized anhidrosis. 4 total HPO annotations.

Organ System	Phenotype Count	Example Features
Metabolism	1	Heat intolerance
Growth and development

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

ITPR2 encodes inositol 1,4,5-trisphosphate receptor type 2 (2,701 aa). Inositol 1,4,5-trisphosphate-gated calcium channel that upon inositol 1,4,5-trisphosphate binding transports calcium from the endoplasmic reticulum lumen to cytoplasm. Highest expression in Cells EBV-transformed lymphocytes (29.8 TPM) and Adrenal Gland (15.6 TPM).

Isolated anhidrosis with normal sweat glands is associated with mutations in the ITPR2 gene on chromosome 12.

ITPR2 is classified as a druggable target (Druggable Genome and Ion Channel categories) with score 0.0.

Diagnosis

Drawn from GeneReviews diagnostic guidelines, newborn screening panel status (RUSP), and ClinGen gene-disease validity classifications. Reflects current clinical evidence and consensus where available.

Genetic testing for ITPR2 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for isolated anhidrosis with normal sweat glands has been reported in the published literature.

Prognosis

Phenotype severity distribution: 2 always present features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for isolated anhidrosis with normal sweat glands.

142 publications have been identified in PubMed for isolated anhidrosis with normal sweat glands. Research spans Review / Meta-Analysis (59%), Basic Science / Preclinical (20%), and Case Report / Case Series (9%).

Research Type	Count	% of Total
Research summaries	84	59%

Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 11:56 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:106190

Orphanet

European rare disease database

Orphanet:468666

GARD

Genetic and Rare Diseases Info Center

GARD:17843

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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Kisho

isolated anhidrosis with normal sweat glands

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

isolated anhidrosis with normal sweat glands

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications