{"orpha":238468,"name":"Hypohidrotic ectodermal dysplasia","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["HED"],"definition":"A rare genetic ectodermal dysplasia syndrome characterized by sparse hair, abnormal or missing teeth, decrease or absent sudation and typical facial features.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-238468/","orphanet_url":"https://www.orpha.net/en/disease/detail/238468","names":{"fr":{"name":"Dysplasie ectodermique hypohidrotique","synonyms":["DEH","HED"],"definition":"La dysplasie ectodermique hypohidrotique (DEH) est une maladie génétique du développement de l'ectoderme caractérisée par des malformations des structures ectodermiques telles que la peau, les cheveux, les dents et les glandes sudoripares. Elle est composée de trois sous-types quasiment indifférenciables sur le plan clinique, associés à l'altération de la sudation comme symptôme majeur : la DEH liée à l'X, la DEH autosomique récessive (AR-HED) et la DEH autosomique dominante (AD-HED), ainsi que d'un quatrième sous-type rare avec une immunodéficience comme manifestation principale (DEH avec immunodéficience)."},"de":{"name":"Dysplasie, ektodermale hypohidrotische","synonyms":["HED"],"definition":"Ein seltene Störung aus der Gruppe der Ektodermalen Dysplasien, die durch spärliche Behaarung, abnorme oder fehlende Zähne, verminderte oder fehlende Schweißbildung und typische Gesichtszüge gekennzeichnet ist."},"es":{"name":"Displasia ectodérmica hipohidrótica","synonyms":["DEH"],"definition":"Es un síndrome de displasia ectodérmica genética poco frecuente que se caracteriza por pelo ralo, dientes anómalos o ausencia de dientes, disminución o ausencia de sudoración y rasgos faciales característicos."},"it":{"name":"Displasia ectodermica ipoidrotica","synonyms":["HED"],"definition":"La displasia ectodermica ipoidrotica (HED) è un difetto genetico dello sviluppo ectodermico con malformazioni delle strutture ectodermiche (cute, capelli, denti e ghiandole sudoripare). Comprende 3 sottotipi, pressoché non differenziabili clinicamente, che presentano, come segno cardinale, un disturbo della sudorazione: sindrome di Christ-Siemens-Touraine (CST; legata all'X), HED autosomica recessiva (AR) e autosomica dominante (AD); è noto un quarto sottotipo raro, HED con immunodeficienza."},"nl":{"name":"Hypohidrotische ectodermale dysplasie","synonyms":["HED"],"definition":"Hypohidrotische ectodermale dysplasie (HED) is een genetische afwijking van de ectodermontwikkeling die gekenmerkt wordt door malformatie van ectodermale structuren zoals huid, haar, tanden en zweetklieren. Het omvat drie klinisch bijna niet te onderscheiden subtypes met verminderd zweten als belangrijkste symptoom: Christ-Siemens-Touraine-syndroom (CST-syndroom; X-gebonden), autosomaal recessieve (AR), en autosomaal dominante (AD) HED, alsook een vierde zeldzaam subtype met immuundeficiëntie als belangrijkste symptoom (HED met immuundeficiëntie) (zie deze termen)."},"pt":{"name":"Displasia ectodérmica hipohidrótica","synonyms":["HED"]},"pl":{"name":"Hipohydrotyczna dysplazja ektodermalna","synonyms":["Anhydrotyczna dysplazja ektodermalna","HED"]},"cs":{"name":"Hypohidrotická ektodermální dysplázie","synonyms":["Anhidrotická ektodermální dysplázie","HED"]},"uk":{"name":"Гіпогідротична ектодермальна дисплазія","synonyms":["Ангідротична ектодермальна дисплазія","HED"],"definition":"A rare genetic ectodermal dysplasia syndrome characterized by sparse hair, abnormal or missing teeth, decrease or absent sudation and typical facial features."},"zh":{"name":"少汗性外胚层发育不良","synonyms":["无汗性外胚层发育不良"],"definition":"少汗性外胚层发育不良（HED）是以皮肤、毛发、牙齿、汗腺等外胚层结构畸形为特征的外胚层发育遗传病。它包括三个核心症状为排汗功能受损的亚型，临床上几乎无法区分：Christ-Siemens-Touraine（CST）综合征（X连锁）、常染色体隐性遗传（AR）和常染色体显性遗传（AD）的HED，第四个亚型罕见，以免疫缺陷为核心症状（HED伴免疫缺陷）（见这些词条）。"},"tr":{"name":"Hipohidrotik ektodermal displazi","synonyms":["HED","Anhidrotik ektodermal displazi"]}},"xrefs":[{"source":"OMIM","code":"129490","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"224900","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"305100","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"614940","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"614941","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q82.4","qualifier":"E","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"LD27.02","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"673167184"},{"source":"MONDO","code":"0016535","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5848103","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"76","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Moved to","orpha":2731,"name":"Taurodontia-absent teeth-sparse hair syndrome","status":"inactive"}],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":98604,"name":"Congenital alacrima","classifications":[156,189]},{"orpha":79373,"name":"Ectodermal dysplasia syndrome","classifications":[147,156,187]},{"orpha":98027,"name":"Rare disease with odontological manifestation","classifications":[197]}],"children":[{"orpha":1810,"name":"Autosomal dominant hypohidrotic ectodermal dysplasia","type":"Etiological subtype"},{"orpha":248,"name":"Autosomal recessive hypohidrotic ectodermal dysplasia","type":"Etiological subtype"},{"orpha":181,"name":"X-linked hypohidrotic ectodermal dysplasia","type":"Etiological subtype"}],"genes":[],"genes_via_subtypes":[{"symbol":"CSTB","name":"cystatin B","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"30425301[PMID]","hgnc":"2482","ensembl":"ENSG00000160213","omim":"601145","loci":["21q22.3"],"via":{"orpha":248,"name":"Autosomal recessive hypohidrotic ectodermal dysplasia"}},{"symbol":"EDA","name":"ectodysplasin A","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"3157","ensembl":"ENSG00000158813","omim":"300451","loci":["Xq13.1"],"via":{"orpha":181,"name":"X-linked hypohidrotic ectodermal dysplasia"}},{"symbol":"EDA2R","name":"ectodysplasin A2 receptor","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"22889853[PMID]","hgnc":"17756","ensembl":"ENSG00000131080","omim":"300276","loci":["Xq12"],"via":{"orpha":181,"name":"X-linked hypohidrotic ectodermal dysplasia"}},{"symbol":"EDAR","name":"ectodysplasin A receptor","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"2895","ensembl":"ENSG00000135960","omim":"604095","loci":["2q13"],"via":{"orpha":248,"name":"Autosomal recessive hypohidrotic ectodermal dysplasia"}},{"symbol":"EDAR","name":"ectodysplasin A receptor","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"2895","ensembl":"ENSG00000135960","omim":"604095","loci":["2q13"],"via":{"orpha":1810,"name":"Autosomal dominant hypohidrotic ectodermal dysplasia"}},{"symbol":"EDARADD","name":"EDAR associated via death domain","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"14341","ensembl":"ENSG00000186197","omim":"606603","loci":["1q42.3-q43"],"via":{"orpha":248,"name":"Autosomal recessive hypohidrotic ectodermal dysplasia"}},{"symbol":"EDARADD","name":"EDAR associated via death domain","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"14341","ensembl":"ENSG00000186197","omim":"606603","loci":["1q42.3-q43"],"via":{"orpha":1810,"name":"Autosomal dominant hypohidrotic ectodermal dysplasia"}},{"symbol":"KDF1","name":"keratinocyte differentiation factor 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"27838789[PMID]","hgnc":"26624","ensembl":"ENSG00000175707","omim":"616758","loci":["1p36.11"],"via":{"orpha":1810,"name":"Autosomal dominant hypohidrotic ectodermal dysplasia"}},{"symbol":"LRP6","name":"LDL receptor related protein 6","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"36553593[PMID]","hgnc":"6698","ensembl":"ENSG00000070018","omim":"603507","loci":["12p13.2"],"via":{"orpha":1810,"name":"Autosomal dominant hypohidrotic ectodermal dysplasia"}},{"symbol":"TRAF6","name":"TNF receptor associated factor 6","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"12036","ensembl":"ENSG00000175104","omim":"602355","loci":["11p12"],"via":{"orpha":1810,"name":"Autosomal dominant hypohidrotic ectodermal dysplasia"}},{"symbol":"WNT10A","name":"Wnt family member 10A","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"13829","ensembl":"ENSG00000135925","omim":"606268","loci":["2q35"],"via":{"orpha":248,"name":"Autosomal recessive hypohidrotic ectodermal dysplasia"}}],"inheritance":["Autosomal dominant","Autosomal recessive","X-linked recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":6.7,"area":"Europe","status":"Validated","source":"[EXPERT]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2026-06-01","source":"36138666[PMID]_20301291[PMID]_31942145[PMID]_34897795[PMID]","terms":[{"hpo":"HP:0006482","label":"Abnormal dental morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000958","label":"Dry skin","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004528","label":"Generalized hypotrichosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000668","label":"Hypodontia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000966","label":"Hypohidrosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002231","label":"Sparse body hair","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002209","label":"Sparse scalp hair","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012471","label":"Thick vermilion border","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004370","label":"Abnormality of temperature regulation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000674","label":"Anodontia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100840","label":"Aplasia/Hypoplasia of the eyebrow","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002099","label":"Asthma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002299","label":"Brittle hair","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000698","label":"Conical tooth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000684","label":"Delayed eruption of teeth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005280","label":"Depressed nasal bridge","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000964","label":"Eczematoid dermatitis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011968","label":"Feeding difficulties","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0500093","label":"Food allergy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001097","label":"Keratoconjunctivitis sicca","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011457","label":"Loss of eyelashes","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001106","label":"Periorbital hyperpigmentation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002217","label":"Slow-growing hair","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009886","label":"Trichorrhexis nodosa","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000217","label":"Xerostomia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011362","label":"Abnormal hair quantity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0410400","label":"Absent sebaceous glands","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000498","label":"Blepharitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100783","label":"Breast aplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0200020","label":"Corneal erosion","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007957","label":"Corneal opacity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000633","label":"Decreased lacrimation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002015","label":"Dysphagia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001618","label":"Dysphonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000962","label":"Hyperkeratosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000303","label":"Mandibular prognathia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000607","label":"Periorbital wrinkles","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002216","label":"Premature graying of hair","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011220","label":"Prominent forehead","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000403","label":"Recurrent otitis media","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006532","label":"Recurrent pneumonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000246","label":"Sinusitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000963","label":"Thin skin","frequency":"Occasional (29-5%)","criteria":null}]}}