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Hypohidrotic ectodermal dysplasia

MONDO:0016535

A genetic disorder of ectoderm development characterized by malformation of ectodermal structures such as skin, hair, teeth and sweat glands. It comprises three clinically almost indistinguishable subtypes with impaired sweating as the key symptom: Christ-Siemens-Touraine (CST) syndrome (X-linked), autosomal recessive (AR), and autosomal dominant (AD) HED, as well as a fourth rare subtype with immunodeficiency as the key symptom (HED with immunodeficiency).

Also known as: HED, anhidrotic ectodermal dysplasia, anhidrotic ectodermal dysplasia 1, anhidrotic ectodermal dysplasia 3, ectodermal dysplasia 1, Anhydrotic, hypohidrotic X-linked ectodermal dysplasia, CST syndrome, EDA

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

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Sub-types

Autosomal dominant hypohidrotic ectodermal dysplasia (0) Autosomal recessive hypohidrotic ectodermal dysplasia (0) Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant (0) Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive (0) Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant (0) Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive (0) Ectodermal dysplasia and immune deficiency (0) Ectodermal dysplasia and immunodeficiency 1 (0) Ectodermal dysplasia and immunodeficiency 2 (0) X-linked hypohidrotic ectodermal dysplasia (0)

Broader categories

Disease (618) Hereditary disease (172) Skin disorder (123) Syndromic disease (24) Human disease (14) Hereditary skin disorder (5) Ectodermal dysplasia syndrome (3) Disease of genetic or genomic mechanism (2) Disease by body system or component (0) Disease by developmental or physiological process (0)
Trials to join now! 4 Not yet recruiting 1 Not yet finished but already full! 1 Completed 2
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