Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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
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 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 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 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 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 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 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 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 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 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 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 Biomarker disease GENOMICS_ENGLAND
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
0.800 Biomarker disease CTD_human