Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects
|
0.780 |
GeneticVariation
|
disease |
BEFREE |
X-linked dominant chondrodysplasia punctata (Conradi-Hunermann-Happle syndrome, CDPX2) caused by mutations in the emopamil-binding protein (EBP) gene and congenital hemidysplasia with ichthyosiform nevus and limb defects (CHILD) syndrome caused by mutation in the NAD(P)H steroid dehydrogenase-like (NSDHL) gene are rare, typically male lethal disorders.
|
31034146 |
2019 |
Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects
|
0.780 |
GeneticVariation
|
disease |
BEFREE |
The gene mutation is a large deletion of exon 3 and 4 of the NSDHL gene, which was discovered and reported for the first time in CHILD syndrome.
|
29341259 |
2018 |
Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects
|
0.780 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.
|
27604308 |
2016 |
Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects
|
0.780 |
Biomarker
|
disease |
CTD_human |
Towards a systematic analysis of human short-chain dehydrogenases/reductases (SDR): Ligand identification and structure-activity relationships.
|
25526675 |
2015 |
Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects
|
0.780 |
GeneticVariation
|
disease |
BEFREE |
Subsequent genetic analysis identified a germline c.324C>T (p.A105V) NSDHL mutation and confirmed a diagnosis of CHILD syndrome.
|
25093865 |
2014 |
Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects
|
0.780 |
AlteredExpression
|
disease |
BEFREE |
Furthermore, human NSDHL protein and mouse Nsdhl mRNA were expressed in tissues synthesizing cholesterol and steroids and in all peripheral tissues affected by CHILD or CK syndromes.
|
22113624 |
2012 |
Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects
|
0.780 |
Biomarker
|
disease |
BEFREE |
CHILD syndrome: the NSDHL gene and its role in CHILD syndrome, a rare hereditary disorder.
|
19906044 |
2010 |
Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects
|
0.780 |
GeneticVariation
|
disease |
BEFREE |
(2) Known CHILD syndrome mutations in exons 4 and 6 of the NSDHL gene do not contribute to the histogenesis of sporadic VXs.
|
16230564 |
2005 |
Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects
|
0.780 |
GeneticVariation
|
disease |
BEFREE |
Although all of the molecularly diagnosed cases with the CHILD phenotype to date have had right-sided disease, we report here a novel nonsense mutation (E151X) of NSDHL in an infant with left-sided CHILD syndrome.
|
12966526 |
2003 |
Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects
|
0.780 |
GermlineCausalMutation
|
disease |
ORPHANET |
A novel missense mutation of NSDHL in an unusual case of CHILD syndrome showing bilateral, almost symmetric involvement.
|
11907515 |
2002 |
Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects
|
0.780 |
GeneticVariation
|
disease |
UNIPROT |
A novel missense mutation of NSDHL in an unusual case of CHILD syndrome showing bilateral, almost symmetric involvement.
|
11907515 |
2002 |
Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects
|
0.780 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
SSCA and genomic sequence analysis of NSDHL identified in 6 patients with CHILD syndrome, including one boy as well as a mother and her daughter, mutations potentially impairing protein function.
|
10710235 |
2000 |
Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects
|
0.780 |
GermlineCausalMutation
|
disease |
ORPHANET |
SSCA and genomic sequence analysis of NSDHL identified in 6 patients with CHILD syndrome, including one boy as well as a mother and her daughter, mutations potentially impairing protein function.
|
10710235 |
2000 |
Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects
|
0.780 |
GeneticVariation
|
disease |
BEFREE |
SSCA and genomic sequence analysis of NSDHL identified in 6 patients with CHILD syndrome, including one boy as well as a mother and her daughter, mutations potentially impairing protein function.
|
10710235 |
2000 |
Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects
|
0.780 |
GeneticVariation
|
disease |
UNIPROT |
SSCA and genomic sequence analysis of NSDHL identified in 6 patients with CHILD syndrome, including one boy as well as a mother and her daughter, mutations potentially impairing protein function.
|
10710235 |
2000 |
Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects
|
0.780 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects
|
0.780 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects
|
0.780 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects
|
0.780 |
CausalMutation
|
disease |
CLINVAR |
|
|
|