Gene: EDA

Alternate names for this Gene: ECTD1|ED1|ED1-A1|ED1-A2|EDA-A1|EDA-A2|EDA1|EDA2|HED|HED1|ODT1|STHAGX1|TNLG7C|XHED|XLHED

Gene 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.

Gene is located in Chromosome: X

Location in Chromosome : Xq13.1

Description of this Gene: ectodysplasin A

Type of Gene: protein-coding

rs1064793104 in EDA gene and Christ-Siemens-Touraine syndrome PMID 23991204 2013 Candidate gene analysis of tooth agenesis identifies novel mutations in six genes and suggests significant role for WNT and EDA signaling and allele combinations.

PMID 8696334 1996 X-linked anhidrotic (hypohidrotic) ectodermal dysplasia is caused by mutation in a novel transmembrane protein.

PMID 9507389 1998 Scarcity of mutations detected in families with X linked hypohidrotic ectodermal dysplasia: diagnostic implications.

PMID 27305980 2016 Mutational spectrum in 101 patients with hypohidrotic ectodermal dysplasia and breakpoint mapping in independent cases of rare genomic rearrangements.

PMID 22428923 2013 Infantile bilateral glaucoma in a child with ectodermal dysplasia.

PMID 27054699 2016 De novo EDA mutations: Variable expression in two Egyptian families.

PMID 9683615 1998 Identification of a new splice form of the EDA1 gene permits detection of nearly all X-linked hypohidrotic ectodermal dysplasia mutations.

PMID 26273176 2015 Mutations in EDA and EDAR Genes in a Large Mexican Hispanic Cohort with Hypohidrotic Ectodermal Dysplasia.

PMID 20486090 2010 Missense mutation of the EDA gene in a Jordanian family with X-linked hypohidrotic ectodermal dysplasia: phenotypic appearance and speech problems.

PMID 11279189 2001 Mutations leading to X-linked hypohidrotic ectodermal dysplasia affect three major functional domains in the tumor necrosis factor family member ectodysplasin-A.

PMID 23926003 2013 [Molecular genetics study of ED1 gene for two X-linked hypohidrotic ectodermal dysplasia families].

PMID 18231121 2008 Mutation screening of the Ectodysplasin-A receptor gene EDAR in hypohidrotic ectodermal dysplasia.

PMID 11416205 2001 Mutations within a furin consensus sequence block proteolytic release of ectodysplasin-A and cause X-linked hypohidrotic ectodermal dysplasia.

PMID 25333067 2014 Craniofacial morphometric analysis of individuals with X-linked hypohidrotic ectodermal dysplasia.

PMID 18821982 2008 Mutations in the EDA gene are responsible for X-linked hypohidrotic ectodermal dysplasia and hypodontia in Chinese kindreds.

PMID 9736768 1998 The anhidrotic ectodermal dysplasia gene (EDA) undergoes alternative splicing and encodes ectodysplasin-A with deletion mutations in collagenous repeats.

PMID 20979233 2011 Only four genes (EDA1, EDAR, EDARADD, and WNT10A) account for 90% of hypohidrotic/anhidrotic ectodermal dysplasia cases.

PMID 11378824 2001 Mutational spectrum of the ED1 gene in X-linked hypohidrotic ectodermal dysplasia.

PMID 11309369 2001 Ectodysplasin is released by proteolytic shedding and binds to the EDAR protein.

PMID 10951256 2000 A novel arginine-->Serine mutation in EDA1 in a Japanese family with X-linked anhidrotic ectodermal dysplasia.

PMID 11295832 2001 The mutation spectrum of the EDA gene in X-linked anhidrotic ectodermal dysplasia.

PMID 23553579 2013 Early respiratory and ocular involvement in X-linked hypohidrotic ectodermal dysplasia.

PMID 21457804 2011 Correlation between the phenotypes and genotypes of X-linked hypohidrotic ectodermal dysplasia and non-syndromic hypodontia caused by ectodysplasin-A mutations.

PMID 21357618 2011 Sweating ability and genotype in individuals with X-linked hypohidrotic ectodermal dysplasia.

PMID 18510547 2008 X-linked hypohidrotic ectodermal dysplasia. Genetic and dental findings in 67 Danish patients from 19 families.

PMID 20236127 2010 X-linked and autosomal recessive Hypohidrotic Ectodermal Dysplasia: genotypic-dental phenotypic findings.

PMID 23744313 2013 [Analysis of EDA gene mutation for a family affected with X-linked hypohidrotic ectodermal dysplasia].

PMID 24312213 2013 Involvement of and interaction between WNT10A and EDA mutations in tooth agenesis cases in the Chinese population.

PMID 18076698 2008 Three novel mutations of the EDA gene in Chinese patients with X-linked hypohidrotic ectodermal dysplasia.

PMID 9630076 1998 A novel missense mutation (402C-->T) in exon 1 in the EDA gene in a family with X-linked hypohidrotic ectodermal dysplasia.

PMID 18386312 2008 Gene symbol: ED1. Disease: Ectodermal dysplasia.

PMID 24724966 2015 Phenotypic heterogeneity and mutational spectrum in a cohort of 45 Italian males subjects with X-linked ectodermal dysplasia.

PMID 19623212 2010 Functional analysis of Ectodysplasin-A mutations causing selective tooth agenesis.

PMID 19438931 2009 Identification of mutations in the EDA and EDAR genes in Pakistani families with hypohidrotic ectodermal dysplasia.

PMID 27144394 2016 Functional Study of Ectodysplasin-A Mutations Causing Non-Syndromic Tooth Agenesis.

PMID 22350046 2012 A new mutation in EDA gene in X-linked hypohidrotic ectodermal dysplasia associated with keratoconus.

PMID 10469321 1999 X-linked anhidrotic (hypohidrotic) ectodermal dysplasia caused by a novel mutation in EDA1 gene: 406T > G (Leu55Arg)

PMID 12932274 2003 A novel missense mutation (Gln306His) in exon 7 of the ED1 gene causing anhidrotic ectodermal dysplasia with prominent milia-like facial sebaceous papules.

PMID 22875504 2012 [Detection of ED1 gene mutations in six pedigrees with hypohidrotic ectodermal dysplasia].

PMID 12225002 2002 Pitfalls in clinical diagnosis of female carriers of X-linked hypohidrotic ectodermal dysplasia.

PMID 11343303 2001 Mutations in the EDA gene in three unrelated families reveal no apparent correlation between phenotype and genotype in the patients with an X-linked anhidrotic ectodermal dysplasia.

PMID 15663448 2005 A point mutation of the ED1 gene in a Japanese family with X-linked hypohidrotic ectodermal dysplasia.

PMID 14656435 2003 The crystal structures of EDA-A1 and EDA-A2: splice variants with distinct receptor specificity.

PMID 12949972 2003 X-linked hypohidrotic ectodermal dysplasia mutations in Brazilian families.

PMID 22032522 2012 A founder ectodysplasin A receptor (EDAR) mutation results in a high frequency of the autosomal recessive form of hypohidrotic ectodermal dysplasia in India.

PMID 17970812 2008 Molecular genetic analysis of patients from India with hypohidrotic ectodermal dysplasia reveals novel mutations in the EDA and EDAR genes.

PMID 24487376 2014 Oligodontia and curly hair occur with ectodysplasin-a mutations.

PMID 26753551 2016 Novel missense mutation in the EDA gene in a family affected by oligodontia.

PMID 19278982 2009 EDA gene mutations underlie non-syndromic oligodontia.

PMID 27657131 2016 Eight Mutations of Three Genes (EDA, EDAR, and WNT10A) Identified in Seven Hypohidrotic Ectodermal Dysplasia Patients.

PMID 18666859 2008 Screening of EDA1 gene in X-linked anhidrotic ectodermal dysplasia using DHPLC: identification of 14 novel mutations in Italian patients.

rs397516654 in EDA gene and Hypodontia PMID 19623212 2010 Functional analysis of Ectodysplasin-A mutations causing selective tooth agenesis.

PMID 24487376 2014 Oligodontia and curly hair occur with ectodysplasin-a mutations.

PMID 19278982 2009 EDA gene mutations underlie non-syndromic oligodontia.

rs142948132 in EDA gene and Tooth Agenesis, Selective, X-Linked, 1 PMID 27144394 2016 Functional Study of Ectodysplasin-A Mutations Causing Non-Syndromic Tooth Agenesis.

PMID 18657636 2009 Novel EDA mutation resulting in X-linked non-syndromic hypodontia and the pattern of EDA-associated isolated tooth agenesis.

PMID 23603338 2013 Non-syndromic tooth agenesis associated with a nonsense mutation in ectodysplasin-A (EDA).

PMID 24487376 2014 Oligodontia and curly hair occur with ectodysplasin-a mutations.

PMID 19278982 2009 EDA gene mutations underlie non-syndromic oligodontia.

PMID 16583127 2006 A novel missense mutation of the EDA gene in a Mongolian family with congenital hypodontia.

PMID 23625373 2013 Novel EDA p.Ile260Ser mutation linked to non-syndromic hypodontia.