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EDA

Synonyms
ECTD1, ED1, ED1-A1, ED1-A2, EDA-A1, EDA-A2, EDA1, EDA2, HED, HED1, ODT1, STHAGX1, TNLG7C, XHED, XLHED
External resources
Summary
The protein encoded by this gene is a type II membrane protein that can be cleaved by furin to produce a secreted form. The encoded protein, which belongs to the tumor necrosis factor family, acts as a homotrimer and may be involved in cell-cell signaling during the development of ectodermal organs. Defects in this gene are a cause of ectodermal dysplasia, anhidrotic, which is also known as X-linked hypohidrotic ectodermal dysplasia. Several transcript variants encoding many different isoforms have been found for this gene.

Variant counts

The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
31
Likely pathogenic
322
VUS
6,069
Likely benign
766
Benign
2

Patient phenotypes

Proportions of phenotypes among 344 patients carrying pathogenic or likely pathogenic variants on EDA gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
44.8%
Abnormality of the musculoskeletal system
34.6%
Abnormality of head or neck
25.6%
Abnormality of the eye
23.3%
Abnormality of the cardiovascular system
18.9%
Abnormality of the integument
17.4%
Abnormality of limbs
16%
Abnormality of the ear
15.7%
Growth abnormality
14.5%
Abnormality of the immune system
8.7%
Abnormality of the digestive system
7.8%
Abnormality of the genitourinary system
7%
Abnormality of blood and blood-forming tissues
5.8%
Abnormality of the respiratory system
5.8%
Abnormality of the endocrine system
3.8%
Constitutional symptom
2.9%
Abnormality of prenatal development or birth
2.6%
Neoplasm
2.3%
Abnormality of the breast
2%
Abnormal cellular phenotype
1.2%
Abnormality of the voice
0.9%
Abnormality of metabolism homeostasis
0%
Abnormality of the thoracic cavity
0%

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