All individuals with variants in gene EDARADD

25 entries on 1 page. Showing entries 1 - 25.
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00043753 FamPatIII1 PubMed: Wohlfart 2016 3-generation family, 3 affected (2F, M) F - Germany - - - - - ECTD11A very thin, brittle, sparse or even absent hair, reduced sweating ability, dental panoramic radiographs confirmed absence considerable number permanent teeth (six upper jaw, eight lower jaw), bilateral amazia (unilateral amazia in mother, bilateral mature ovarian teratomas containing hair, sebaceous and sweat glands 1 1 Sigrun Maier-Wohlfart
00057908 - PubMed: Cluzeau 2011 - F no France - >11y - - - ECTD11A sparse hair (HP:0008070), reduced number of teeth (HP:0009804), hypohidrosis (HP:000966), dry skin (HP:0000958), abnormal nails (HP:0001597), palmoplantar keratoderma (HP:0000982) 1 1 Johan den Dunnen
00289761 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 47 Mohammed Faruq
00289762 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 2 Mohammed Faruq
00289763 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 237 Mohammed Faruq
00299828 - PubMed: Wohlfart 2016 - - - Germany - - - - - ECTD - 1 1 Johan den Dunnen
00299829 - PubMed: Wohlfart 2016 - - - Germany - - - - - ECTD - 1 1 Johan den Dunnen
00299830 - PubMed: Wohlfart 2016 - - - Germany - - - - - ECTD - 1 1 Johan den Dunnen
00304187 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 6 Mohammed Faruq
00399295 family PubMed: Cluzeau 2019 5-generation family, 6 affected (3F, 3M), unaffected heterozygous carrier parents/relatives F;M yes Tunisia - - - - - ECTD see paoer; ..., severe hypo-hidrotic and anhidrotic ectodermal dysplasia, multiple pulmonary infections; sparse hair, oligodontia with conical widely spaced teeth, ichthyosiform dry skin, prominent lips, frontal bossing, pointed chin; inability to sweat, episodes severe hyperpyrexia since early childhood 1 6 Johan den Dunnen
00399296 patient PubMed: Chassaing 2010 2-generation family, 1 affected, unaffected heterozygous carrier parents F yes Morocco - - - - - HED see paper; ..., hypotrichosis, hypodontia, anhidrosis; childhood one milk tooth; 27y-permanent teeth not erupted; skin very dry, eczematous, hyperpigmented stains forehead, cheek and chin; scalp hair appeared late and is thin, brittle and sparse; no axillary hair, no pubic hair, sparse eyebrows, sparse eyelashes; recurrent rhinitis, multiple respiratory infections; no sweating 1 1 Johan den Dunnen
00399297 patientss PubMed: Chassaing 2010 - - - France - - - - - HED - 1 2 Johan den Dunnen
00399298 FamED1176 PubMed: Headon 2001 4-generation family, 5 affected (4F, M), unaffected heterozygous carrier parents/relatives F;M yes United States - - - - - HED see paper; ... 1 1 Johan den Dunnen
00399321 family PubMed: Chaudhary 2016 2-generation family, 2 affected sisters, unaffected heterozygous carrier parents/relatives F yes India - - - - - HED see paper; ... 1 2 Johan den Dunnen
00399322 patient PubMed: Koguchi-Yoshioka 2015, - F - Japan - - - - - ? see paper; ..., heat intolerance since birth, anhidrosis trunk and upper limbs, could sweat on other areas; no abnormalities whole body; normal intelligence; father anhidrosis 1 1 Johan den Dunnen
00399324 patient PubMed: Suda 2010 2-generation family, 1 affected, unaffected non-carrier parents M - Mongolia - - - - - HED see paper; ..., hypohidrotic ectodermal dysplasia, short stature, normal mental development; sparse hair, sparse eyebrows; normal finger nails; unable to sweat; no cardiac abnormality; no erupted deciduous or permanent teeth, lateral cephalogram and panoramic radiograph only one mandibular molar right side; alveolar bone height maxilla and mandible extremely low 1 1 Johan den Dunnen
00399325 family PubMed: Bal 2007 3-generation family, 7 affected (3F, 4M) F;M - Morocco - - - - - ? see paper; ..., ypotrichosis, hypodontia, anhidrosis 1 1 Johan den Dunnen
00399343 EDARADD_F1-1 PubMed: Bodemer 2019 2-generation family, 2 affected sibs M no Turkey - - - - - ECTD hypotrichosis; anhidrosis, dry skin; spoon-shaped nails; severe oligodontia, class III malocclusion; facila dysmorphism, blue sclera, palmar hyperhidrosis 1 2 Johan den Dunnen
00399344 EDARADD_F1-2 PubMed: Bodemer 2019 - F no Turkey - - - - - ECTD hypotrichosis; hypohidrosis, dry skin; spoon-shaped nails; severe oligodontia, class III malocclusion; facila dysmorphism, palmar keratosis 1 1 Johan den Dunnen
00399429 Pat21 PubMed: Martínez-Romero 2019 - M - Spain - - - - - HED - 1 1 Johan den Dunnen
00399441 Pat51 PubMed: Martínez-Romero 2019 - M - Spain - - - - - ? - 1 1 Johan den Dunnen
00399458 Pat38 PubMed: Martínez-Romero 2019 - F - Spain - - - - - HED - 1 1 Johan den Dunnen
00399459 Pat40 PubMed: Martínez-Romero 2019 - M - Spain - - - - - HED - 1 1 Johan den Dunnen
00399466 Pat39 PubMed: Martínez-Romero 2019 - M - Spain - - - - - ? - 1 1 Johan den Dunnen
00399471 patient PubMed: van der Hout 2008 2-generation family, 1 affected, unaffected heterozygous carrier mother F - - - - - - - HED conical teeth, sparse downy hair 1 1 Johan den Dunnen
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