EDA, ectodysplasin A, 1896

N. diseases: 150; N. variants: 83
Disease: Developmental absence of tooth ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0399352
Disease: Developmental absence of tooth
Developmental absence of tooth 		0.150 GeneticVariation disease BEFREE Genetic variations in genes known to be associated with EDs that affect only one derivative of the ectoderm (attenuated phenotype) will be grouped as non-syndromic traits of the causative gene (e.g., non-syndromic hypodontia or missing teeth associated with pathogenic variants of EDA "ectodysplasin"). 30703280 2019
CUI: C0399352
Disease: Developmental absence of tooth
Developmental absence of tooth 		0.150 GeneticVariation disease BEFREE As the most common form of ectodermal dysplasia (ED), X-linked hypohidrotic ED (XLHED) is characterized by the triad of hypohidrosis, hypotrichosis, and anodontia in male patients.The gene responsible for XLHED is EDA. 30117778 2018
CUI: C0399352
Disease: Developmental absence of tooth
Developmental absence of tooth 		0.150 Biomarker disease BEFREE PAX9, MSX1, AXIN2, WNT10A and EDA have been experimentally established for congenitally missing teeth like hypodontia and oligodontia. 25203534 2014
CUI: C0399352
Disease: Developmental absence of tooth
Developmental absence of tooth 		0.150 Biomarker disease BEFREE Significant differences in the number of some primary missing teeth (incisor and canine) related to EDA-EDAR genes defects were detected for the first time between XLHED and autosomal recessive HED, suggesting differential local effects of EDA-EDAR genes during odontogenesis. 20236127 2010
CUI: C0399352
Disease: Developmental absence of tooth
Developmental absence of tooth 		0.150 GeneticVariation disease LHGDN Mutations in the EDA gene are responsible for X-linked hypohidrotic ectodermal dysplasia and hypodontia in Chinese kindreds. 18821982 2008
CUI: C0399352
Disease: Developmental absence of tooth
Developmental absence of tooth 		0.150 Biomarker disease HPO