Ectodermal dysplasias: Classification and organization by phenotype, genotype and molecular pathway

An international advisory group met at the National Institutes of Health in Bethesda, Maryland in 2017, to discuss a new classification system for the ectodermal dysplasias (EDs) that would integrate both clinical and molecular information. We propose the following, a working definition of the EDs b...

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Bibliographic Details
Published in:American journal of medical genetics. Part A 2019-03, Vol.179 (3), p.442-447
Main Authors: Wright, John Timothy, Fete, Mary, Schneider, Holm, Zinser, Madelaine, Koster, Maranke I., Clarke, Angus J., Hadj‐Rabia, Smail, Tadini, Gianluca, Pagnan, Nina, Visinoni, Atila F., Bergendal, Birgitta, Abbott, Becky, Fete, Timothy, Stanford, Clark, Butcher, Clayton, D'Souza, Rena N., Sybert, Virginia P., Morasso, Maria I.
Format: Article
Language:English
Subjects:
Alleles
Biomarkers
classification
Classification systems
Connexins
Databases, Genetic
dysplasia
Ectoderm
ectodermal
Ectodermal Dysplasia - diagnosis
Ectodermal Dysplasia - genetics
Ectodermal Dysplasia - metabolism
Ectodysplasin
genetic
Genetic Association Studies
Genetic diversity
Genetic Predisposition to Disease
Genotype
Genotypes
Glands
Heredity
Homeostasis
Humans
molecular
Nails (Anatomy)
Phenotype
Phenotypes
Signal Transduction
signaling pathway
Teeth
Wnt protein
Zebrafish
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Summary:An international advisory group met at the National Institutes of Health in Bethesda, Maryland in 2017, to discuss a new classification system for the ectodermal dysplasias (EDs) that would integrate both clinical and molecular information. We propose the following, a working definition of the EDs building on previous classification systems and incorporating current approaches to diagnosis: EDs are genetic conditions affecting the development and/or homeostasis of two or more ectodermal derivatives, including hair, teeth, nails, and certain glands. 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”). Information for categorization and cataloging includes the phenotypic features, Online Mendelian Inheritance in Man number, mode of inheritance, genetic alteration, major developmental pathways involved (e.g., EDA, WNT “wingless‐type,” TP63 “tumor protein p63”) or the components of complex molecular structures (e.g., connexins, keratins, cadherins).
ISSN:1552-4825
1552-4833
DOI:10.1002/ajmg.a.61045