Ectodermal Dysplasia 11A, Hypohidrotic/Hair/Tooth Type, Autosomal Dominant (ECTD11A)

Ectodermal Dysplasia 11A, Hypohidrotic/Hair/Tooth Type, Autosomal Dominant (ECTD11A)

OMIM number: 614940

Comments closing date: 28/04/2025

Ectodermal dysplasia 11A is an autosomal
dominant condition caused by mutations in the
EDARADD gene on chromosome 1. This gene is
essential for normal development of ectodermal
structures, such as hair, teeth, and sweat glands.
Reduced number or dysfunction of sweat glands
causes reduced ability to sweat (hypohidrosis).
Sweating allows the body to control temperature
and cool the body. Reduced sweating can lead to
a dangerously high body temperature
(hyperthermia), particularly in hot weather. In
some cases, hyperthermia can cause life threatening
health problems. The more common
X-linked form of this condition (X-linked HED, EDA
gene) is already licensed for PGT. ED type 11A is
similarly characterized by hypotrichosis
(sparseness of scalp and body hair), hypohidrosis
(as described above), and hypodontia (congenital
absence of teeth). The condition is variable with
mild and classic forms. Mutations in the
EDARADD gene can also cause a recessive form
of the condition which is typically more severe.
This licence application is focused on the
dominant form of HED as caused by the
EDARADD gene. The autosomal dominant form of
the condition is typically the milder form (maybe
similar to female carriers of the X-linked type).
However data is lacking as this type is very rare.

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