All individuals with variants in gene EDAR

42 entries on 1 page. Showing entries 1 - 42.
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Disease     
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Variants     
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00057899 - PubMed: Cluzeau 2011 - F no France - - - - - ECTD10A sparse hair (HP:0008070), reduced number of teeth (HP:0009804), hypohidrosis (HP:000966), facial dysmorphism (HP:0001999) 1 1 Johan den Dunnen
00057900 - PubMed: Cluzeau 2011 PubMed: Cluzeau 2011 M no - Sefarad >17y - - - ECTD10A sparse hair (HP:0008070), reduced number of teeth (HP:0009804), hypohidrosis (HP:000966), facial dysmorphism (HP:0001999) 1 1 Johan den Dunnen
00057901 - PubMed: Cluzeau 2011 - M yes Algeria - >34y - - - ECTD10A sparse hair (HP:0008070), reduced number of teeth (HP:0009804), hypohidrosis (HP:000966), dry skin (HP:0000958) 1 1 Johan den Dunnen
00057902 - PubMed: Cluzeau 2011 - M yes Turkey - >03y - - - ECTD10B sparse hair (HP:0008070), reduced number of teeth (HP:0009804), hypohidrosis (HP:000966), facial dysmorphism (HP:0001999), diffuse palmoplantar hyperkeratosis (HP:0007447) 1 1 Johan den Dunnen
00057903 - PubMed: Cluzeau 2011 - F no Portugal - >37y - - - ECTD10A sparse hair (HP:0008070), reduced number of teeth (HP:0009804), hypohidrosis (HP:000966); autosomal dominant case 1 1 Johan den Dunnen
00057905 - PubMed: Cluzeau 2011 - F no - Sefarad >10y - - - ECTD10A sparse hair (HP:0008070), reduced number of teeth (HP:0009804), hypohidrosis (HP:000966), dry skin (HP:0000958), eczema (HP:0000964) 1 1 Johan den Dunnen
00057906 - PubMed: Cluzeau 2011 - M yes Portugal - >06y - - - ECTD10A sparse hair (HP:0008070), reduced number of teeth (HP:0009804), hypohidrosis (HP:000966) 1 1 Johan den Dunnen
00058499 - PubMed: Wohlfart 2016 - - no Germany - - - - - ECTD10A hypohidrotic ectodermal dysplasia 1 1 Sigrun Maier-Wohlfart
00058500 - PubMed: Wohlfart 2016 - - no Germany - - - - - ECTD10A hypohidrotic ectodermal dysplasia 1 1 Sigrun Maier-Wohlfart
00058501 - PubMed: Wohlfart 2016 - - yes Germany - - - - - ECTD10B hypohidrotic ectodermal dysplasia 1 1 Sigrun Maier-Wohlfart
00058502 - PubMed: Wohlfart 2016 - - ? Germany - - - - - ECTD10B hypohidrotic ectodermal dysplasia 1 1 Sigrun Maier-Wohlfart
00179457 - - - M ? Germany - - - - - ECTD10B - 1 1 Sigrun Maier-Wohlfart
00292224 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 1 Mohammed Faruq
00292225 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 6 Mohammed Faruq
00292226 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 1 Mohammed Faruq
00292227 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 1 Mohammed Faruq
00299677 - - - F no Germany - - - - - ECTD10B - 2 1 Sigrun Maier-Wohlfart
00299705 - PubMed: Wohlfart 2016 - M - Turkey - - - - - ? hair amount and hair color normal for Turkish (Asian) boy 1 1 Johan den Dunnen
00299797 - PubMed: Wohlfart 2016 - - no Germany - - - - - ECTD10A hypohidrotic ectodermal dysplasia 1 1 Sigrun Maier-Wohlfart
00299798 - PubMed: Wohlfart 2016 - - no Germany - - - - - ECTD10B hypohidrotic ectodermal dysplasia 1 1 Sigrun Maier-Wohlfart
00299799 - PubMed: Wohlfart 2016 - - no Germany - - - - - ECTD10B hypohidrotic ectodermal dysplasia 1 1 Sigrun Maier-Wohlfart
00299800 - PubMed: Wohlfart 2016 - - no Germany - - - - - ECTD10B hypohidrotic ectodermal dysplasia 1 1 Sigrun Maier-Wohlfart
00299801 - PubMed: Wohlfart 2016 - - no Germany - - - - - ECTD10B hypohidrotic ectodermal dysplasia 1 1 Sigrun Maier-Wohlfart
00386485 - PubMed: Nair 2018 - - - Lebanon - - - - - NDD hydrocephalus; developmental delay; intellectual disability; abnormal gait; carse face, malformation of heart and great vessels; short stature; undescended testis; micropenis 1 1 Johan den Dunnen
00399326 patient PubMed: Masui 2011 - F - Japan - - - - - HED see paper; ..., sparse scalp hair, decreased sweating since birth, no nail anomalies, no palmoplantar hyperkeratosis; hypodontia, saddle nose, periorbital wrinkling 1 1 Johan den Dunnen
00399332 EDA_F2 PubMed: Bodemer 2019 - M yes Turkey - - - - - ECTD hypotrichosis; hypohidrosis, skin severe dryness; normal nails; oligodontia, conical incisors; facila dysmorphism 1 1 Johan den Dunnen
00399333 EDA_F3 PubMed: Bodemer 2019 - M yes Turkey - - - - - ECTD hypotrichosis; hypohidrosis, dry skin; normal nails; oligodontia, conical incisors; facila dysmorphism 1 1 Johan den Dunnen
00399335 EDA_F5 PubMed: Bodemer 2019 - M yes Turkey - - - - - ECTD hypotrichosis; anhidrosis, skin severe dryness; spoon-shaped nails; severe oligodontia, conical incisors; facila dysmorphism 1 1 Johan den Dunnen
00399336 EDA_F6 PubMed: Bodemer 2019 - M no Turkey - - - - - ECTD hypotrichosis; anhidrosis, skin severe dryness; normal nails; severe oligodontia, conical incisors; facila dysmorphism 1 1 Johan den Dunnen
00399340 EDAR_F4 PubMed: Bodemer 2019 - F no Turkey - - - - - ECTD hypotrichosis; hypohidrosis; spoon-shaped nails; severe oligodontia, conical incisors; facila dysmorphism, clinodactyly, postaxial polydactyly 1 1 Johan den Dunnen
00399341 EDAR_F5 PubMed: Bodemer 2019 - M yes Turkey - - - - - ECTD hypotrichosis; anhidrosis, dry skin; normal nails; severe oligodontia, conical incisors; facila dysmorphism 1 1 Johan den Dunnen
00399342 EDAR_F6 PubMed: Bodemer 2019 - M yes Turkey - - - - - ECTD hypotrichosis; hypohidrosis; spoon-shaped nails; severe oligodontia, conical incisors; facila dysmorphism 1 1 Johan den Dunnen
00399454 Pat05 PubMed: Martínez-Romero 2019 - M - Spain - - - - - HED - 2 1 Johan den Dunnen
00399455 Pat18 PubMed: Martínez-Romero 2019 - M - Spain - - - - - HED - 1 1 Johan den Dunnen
00399456 Pat42 PubMed: Martínez-Romero 2019 - M - Spain - - - - - HED - 1 1 Johan den Dunnen
00399457 Pat12 PubMed: Martínez-Romero 2019 - F - Spain - - - - - HED - 1 1 Johan den Dunnen
00399502 Fam1 PubMed: van der Hout 2008 2-generation family, 2 affected brothers, mildly affected mother M - Netherlands - - - - - HED conical teeth, hypodontia, thin hair, sparse hair,decreased sweating; older brother only two permanent teeth, atrophic rhinitis, multiple respiratory infections; mother hypohidrosis, few permanent teeth, milk teeth remained 2 2 Johan den Dunnen
00399503 Fam2 PubMed: van der Hout 2008 2-generation family, affected mother/son F;M - Netherlands - - - - - HED see paper; ... 1 2 Johan den Dunnen
00399504 Fam3 PubMed: van der Hout 2008 2-generation family, affected mother/daughter F - Netherlands - - - - - HED see paper; ... 1 2 Johan den Dunnen
00399505 Fam4 PubMed: van der Hout 2008 2-generation family, affected mother/daughter F - Netherlands - - - - - HED see paper; ... 1 2 Johan den Dunnen
00399506 Fam5 PubMed: van der Hout 2008 2-generation family, affected mother/son F;M - Netherlands - - - - - HED see paper; ... 1 2 Johan den Dunnen
00437942 patient PubMed: Ferrer 2019 3-generation family, 1 triple affected F - United States - - - - - ATOD, ECTD, WITKOS see paper; ..., motor delay, speech delay, scoliosis, distinctive craniofacial features (prominent forehead, epicanthus, depressed nasal bridge, narrow mouth, prognathism, malar flattening, oligodontia), dry skin; family history dry skin mother, missing teeth paternal grandmother 1 1 Johan den Dunnen
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