Isolated generalized anhidrosis

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Isolated generalized anhidrosis with normal sweat glands

ORPHA:468666Disease

What it is

A rare genetic skin disease characterized by congenital generalized anhidrosis resulting in severe heat intolerance, due to functionally impaired eccrine sweat production. Skin biopsy reveals normal morphology and number of sweat glands. Dental, hair, nail, or other skin or extracutaneous anomalies are absent.

Key facts

Prevalence
<1 / 1 000 000
Age of onset
Neonatal
Inheritance
Autosomal recessive
Classified as
Disease

Prevalence figures describe populations, not individuals, and are often estimates from a single study. Where the figure is an incidence or a birth prevalence, it says so.

Gene

ITPR2Disease-causing germline mutation(s) (loss of function)

ICD-10 codes

L74.4filed under a broader ICD-10 category

Related health topics

Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.

Cross-references

MONDO 0007118MONDO 7118OMIM 106190UMLS C5568836

Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.

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