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Most cases are caused by mutations in the EDA gene, which are inherited in an X-linked recessive pattern, called x-linked hypohidrotic ectodermal dysplasia (XLHED). A condition is considered X-linked if the mutated gene that causes the disorder is located on the X chromosome, one of the two sex chromosomes.
Individuals with this condition typically exhibit a milder version of the symptoms that patients with another type of ectodermal dysplasia would display, these include: [1] [2]
This gene was identified by its association with ectodermal dysplasia, and specifically with hypohidrotic ectodermal dysplasia, a genetic disorder characterized by defective development of hair, teeth, and eccrine sweat glands. The protein encoded by this gene is a death domain-containing protein, and is found to interact with EDAR, a death ...
Hypohidrotic ectodermal dysplasia can be associated with EDA, EDAR and EDARADD. Margarita Island ectodermal dysplasia is associated with PVRL1. Ectodermal dysplasia with skin fragility is associated with PKP1. Clouston's hidrotic ectodermal dysplasia is associated with GJB6. Naegeli syndrome/Dermatopathia pigmentosa reticulariss is associated ...
Ectodysplasin A (EDA) is a protein that in humans is encoded by the EDA gene. Ectodysplasin A is a transmembrane protein of the TNF family which plays an important role in the development of ectodermal tissues such as skin in humans.
Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome: This condition is inherited in an autosomal recessive manner: Specialty: Dermatology: Symptoms: sparse hair, abnormal dentition and hypohidrosis: Usual onset: Presents in early childhood with progressive respiratory decline and eventual failure: Treatment
Mutations in EDA give rise to a clinical syndrome characterized by loss of hair, sweat glands, and teeth. The protein encoded by this gene specifically binds to EDA-A2 isoform. This protein is a type III transmembrane protein of the TNFR (tumor necrosis factor receptor) superfamily, and contains 3 cysteine -rich repeats and a single ...
Infants born with congenital hypothyroidism may show no effects, or may display mild effects that often go unrecognized as a problem: excessive sleeping, reduced interest in nursing, poor muscle tone, low or hoarse cry, infrequent bowel movements, significant jaundice, and low body temperature.