|
Christ-Siemens-Touraine syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
A frameshift variant in the EDA gene in Dachshunds with X-linked hypohidrotic ectodermal dysplasia.
|
30276836 |
2018 |
|
Christ-Siemens-Touraine syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Therefore the aim of the study was to search for etiological variations of EDA and other candidate genes in two unrelated Egyptian male children with sporadic non-syndromic tooth agenesis (NTA) and hypohidrotic ectodermal dysplasia (HED).
|
27054699 |
2016 |
|
Christ-Siemens-Touraine syndrome
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Hypohidrotic ectodermal dysplasia (HED) can be caused by mutations in the X-linked ectodysplasin A (ED1) gene or the autosomal ectodysplasin A-receptor (EDAR) and EDAR-associated death domain (EDARADD) genes.
|
18231121 |
2008 |
|
Christ-Siemens-Touraine syndrome
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Only four genes (EDA1, EDAR, EDARADD, and WNT10A) account for 90% of hypohidrotic/anhidrotic ectodermal dysplasia cases.
|
20979233 |
2011 |
|
Christ-Siemens-Touraine syndrome
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
|
Christ-Siemens-Touraine syndrome
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
Mutation p.Leu354Pro in EDA causes severe hypohidrotic ectodermal dysplasia in a Chinese family.
|
22008666 |
2012 |
|
Christ-Siemens-Touraine syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
In this study, the authors investigated the ED1 gene in a Japanese family with X-linked hypohidrotic ectodermal dysplasia.
|
15663448 |
2005 |
|
Christ-Siemens-Touraine syndrome
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Mutations within a furin consensus sequence block proteolytic release of ectodysplasin-A and cause X-linked hypohidrotic ectodermal dysplasia.
|
11416205 |
2001 |
|
Christ-Siemens-Touraine syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Mutations of NEMO which do not abolish NF-kappaB activity totally permit male survival, causing an allelic variant of IP called hypohidrotic ectodermal dysplasia and immunodeficiency (HED-ID).
|
16228229 |
2005 |
|
Christ-Siemens-Touraine syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Localization of the mutations in the extracellular domain of ectodysplasin A suggested that the primary cause of EDA is a defect in communication between the cells responsible for the development of skin appendages.
|
11343303 |
2001 |
|
Christ-Siemens-Touraine syndrome
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
Only four genes (EDA1, EDAR, EDARADD, and WNT10A) account for 90% of hypohidrotic/anhidrotic ectodermal dysplasia cases.
|
20979233 |
2011 |
|
Christ-Siemens-Touraine syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Some mutations cause immunodeficiency without EDA (NEMO-ID).
|
28993958 |
2017 |
|
Christ-Siemens-Touraine syndrome
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Mutational spectrum in 101 patients with hypohidrotic ectodermal dysplasia and breakpoint mapping in independent cases of rare genomic rearrangements.
|
27305980 |
2016 |
|
Christ-Siemens-Touraine syndrome
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Mutational spectrum of the ED1 gene in X-linked hypohidrotic ectodermal dysplasia.
|
11378824 |
2001 |
|
Christ-Siemens-Touraine syndrome
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
X-linked hypohidrotic ectodermal dysplasia mutations in Brazilian families.
|
12949972 |
2003 |
|
Christ-Siemens-Touraine syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Mutational spectrum of the ED1 gene in X-linked hypohidrotic ectodermal dysplasia.
|
11378824 |
2001 |
|
Christ-Siemens-Touraine syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Hypohidrotic (anhidrotic) ectodermal dysplasia (HED), a genetic disorder characterized by defective development of hair, teeth, and eccrine sweat glands, is usually inherited as an X-linked recessive trait mapped to the X-linked ectodermal dysplasia locus, EDA, at Xq12-q13.1.
|
9245989 |
1997 |
|
Christ-Siemens-Touraine syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
A novel de novo frame-shift mutation of the EDA gene in a Chinese Han family with hypohidrotic ectodermal dysplasia.
|
17066260 |
2006 |
|
Christ-Siemens-Touraine syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Identification of a new splice form of the EDA1 gene permits detection of nearly all X-linked hypohidrotic ectodermal dysplasia mutations.
|
9683615 |
1998 |
|
Christ-Siemens-Touraine syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
A novel missense mutation (402C-->T) in exon 1 in the EDA gene in a family with X-linked hypohidrotic ectodermal dysplasia.
|
9630076 |
1998 |
|
Christ-Siemens-Touraine syndrome
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
A novel missense mutation (Gln306His) in exon 7 of the ED1 gene causing anhidrotic ectodermal dysplasia with prominent milia-like facial sebaceous papules.
|
12932274 |
2003 |
|
Christ-Siemens-Touraine syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Mutations leading to X-linked hypohidrotic ectodermal dysplasia affect three major functional domains in the tumor necrosis factor family member ectodysplasin-A.
|
11279189 |
2001 |
|
Christ-Siemens-Touraine syndrome
|
0.800 |
Biomarker
|
disease |
BEFREE |
Mutations within a furin consensus sequence block proteolytic release of ectodysplasin-A and cause X-linked hypohidrotic ectodermal dysplasia.
|
11416205 |
2001 |
|
Christ-Siemens-Touraine syndrome
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
X-linked anhidrotic (hypohidrotic) ectodermal dysplasia is caused by mutation in a novel transmembrane protein.
|
8696334 |
1996 |
|
Christ-Siemens-Touraine syndrome
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Missense mutation of the EDA gene in a Jordanian family with X-linked hypohidrotic ectodermal dysplasia: phenotypic appearance and speech problems.
|
20486090 |
2010 |