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Isolated anhidrosis with normal sweat glands

MONDO:0007118

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

Also known as: Dann-Epstein-Sohar syndrome, ITPR2 anhidrosis, anhidrosis caused by mutation in ITPR2, ANHD, anhidrosis, isolated, with normal sweat glands, isolated generalised anhidrosis with normal sweat glands, isolated generalized anhidrosis with normal sweat glands

7 clinical trials for this condition and its sub-types.

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Broader categories

Disease (618) Hereditary disease (172) Skin disorder (123) Human disease (14) Hereditary skin disorder (5) Sweat gland disorder (5) Disease of genetic or genomic mechanism (2) Anhidrosis (0) Dermis disorder (0) Disease by body system or component (0)
Trials to join now! 4 Not yet recruiting 1 Not yet finished but already full! 1 Completed 1
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  • Skin deep: european study probes the hidden emotional toll of skin diseases

    Knowledge-focused Not yet recruiting

    This study looks at how people with skin conditions (like eczema, psoriasis, or skin cancer) manage stress, feel lonely, and bounce back from challenges. Researchers will compare 375 adults with and without skin disease across 15 European countries using questionnaires. The goal …

    Phase: NA • Sponsor: University Hospital, Brest • Aim: Knowledge-focused

    Last updated Jun 27, 2026 13:06 UTC

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