Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
|
0.800 |
Biomarker
|
disease |
CTD_human |
|
|
|
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Identical mutations in three different fibroblast growth factor receptor genes in autosomal dominant craniosynostosis syndromes.
|
8841188 |
1996 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
|
0.800 |
GermlineCausalMutation
|
disease |
ORPHANET |
We refer to the phenotype caused by the Lys650Met mutation as "severe achondroplasia with developmental delay and acanthosis nigricans" (SADDAN) because it differs significantly from the phenotypes of other known FGFR3 mutations.
|
10053006 |
1999 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN): phenotypic analysis of a new skeletal dysplasia caused by a Lys650Met mutation in fibroblast growth factor receptor 3.
|
10377013 |
1999 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
We refer to the phenotype caused by the Lys650Met mutation as "severe achondroplasia with developmental delay and acanthosis nigricans" (SADDAN) because it differs significantly from the phenotypes of other known FGFR3 mutations.
|
10053006 |
1999 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We refer to the phenotype caused by the Lys650Met mutation as "severe achondroplasia with developmental delay and acanthosis nigricans" (SADDAN) because it differs significantly from the phenotypes of other known FGFR3 mutations.
|
10053006 |
1999 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Two missense mutations in this codon are known to result in strong constitutive activation of the FGFR3 tyrosine kinase and cause three different skeletal dysplasia syndromes-thanatophoric dysplasia type II (TD2) (A1948G [Lys650Glu]) and SADDAN (severe achondroplasia with developmental delay and acanthosis nigricans) syndrome and thanatophoric dysplasia type I (TD1) (both due to A1949T [Lys650Met]).
|
11055896 |
2000 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Novel FGFR3 mutations creating cysteine residues in the extracellular domain of the receptor cause achondroplasia or severe forms of hypochondroplasia.
|
16912704 |
2006 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Mutations in FGFR3 result in skeletal dysplasias of variable severity, including mild phenotypic effects in hypochondroplasia (HCH), severe phenotypic effects in thanatophoric dysplasia types I (TDI) and II (TDII), and severe but survivable phenotypic effects in severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN).
|
17561467 |
2007 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Acanthosis nigricans is a feature of several syndromes caused by activating mutations of the fibroblast growth factor receptor 3 gene (FGFR3), including Crouzon syndrome with acanthosis nigricans, thanatophoric dysplasia, and severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN syndrome).
|
17875876 |
2007 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
|
0.800 |
GermlineCausalMutation
|
disease |
ORPHANET |
Prenatal and postnatal presentation of severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN) due to the FGFR3 Lys650Met mutation.
|
18076102 |
2008 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Prenatal and postnatal presentation of severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN) due to the FGFR3 Lys650Met mutation.
|
18076102 |
2008 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Acanthosis nigricans (AN) has been reported in association with severe skeletal dysplasias due to activating mutations in FGFR3, including thanatophoric dysplasia, severe achondroplasia (ACH) with developmental delay and AN (SADDAN syndrome), and Crouzon syndrome with AN.
|
19622626 |
2009 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Achondroplasia (ACH), thanatophoric dysplasia (TD) types I and II, hypochondroplasia (HCH), and severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN) are all due to activating mutations in the fibroblast growth factor receptor 3 (FGFR3) gene.
|
20034074 |
2010 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Our data suggest that the molecular effect by the p.Thr651Pro is to elicit a conformational change that decreases the FGFR3 tyrosine kinase activity, which is constitutively activated by the SADDAN mutation.
|
24352917 |
2014 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the fibroblast growth factor receptor 3 (FGFR3) gene account for six related skeletal dysplasia conditions: achondroplasia, hypochondroplasia, thanatophoric dysplasia types 1 and 2, SADDAN (severe achondroplasia with developmental delay and acanthosis nigricans), and platyspondylic lethal skeletal dysplasia, San Diego type.
|
25119967 |
2015 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Pathogenic allelic variants in the fibroblast growth factor receptor 3 (FGFR3) gene have been associated with a number of phenotypes including achondroplasia, hypochondroplasia, thanatophoric dysplasia, Crouzon syndrome with acanthosis nigricans (Crouzonodermoskeletal syndrome), and SADDAN (severe achondroplasia with developmental delay and acanthosis nigricans).
|
28181399 |
2017 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Autosomal dominant mutations in fibroblast growth factor receptor 3 (FGFR3) cause achondroplasia (Ach), the most common form of dwarfism in humans, and related chondrodysplasia syndromes that include hypochondroplasia (Hch), severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN), and thanatophoric dysplasia (TD).
|
27987249 |
2017 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
|
0.800 |
Biomarker
|
disease |
BEFREE |
Moreover, we found that SADDAN-FGFR3 induced FAK phosphorylation at tyrosines 576/577, suggesting its involvement as a Src co-activator in paxillin phosphorylation.
|
29242050 |
2018 |