{"orpha":98813,"name":"Hypohidrotic ectodermal dysplasia with immunodeficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["HED-ID"],"definition":"A rare ectodermal dysplasia syndrome characterized by signs of ectodermal dysplasia (sparse hair, abnormal or missing teeth, decrease or absent sudation), typical facial features (protruding forehead, wrinkles under the eyes, characteristic periorbital hyperpigmentation), and immunodeficiency.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-98813/","orphanet_url":"https://www.orpha.net/en/disease/detail/98813","names":{"fr":{"name":"Dysplasie ectodermique hypohidrotique avec déficit immunitaire","synonyms":["HED-ID"],"definition":"Syndrome rare de dysplasie ectodermique caractérisé par des signes de dysplasie ectodermique (cheveux clairsemés, dents anormales ou manquantes, diminution ou absence de sudation), une dysmorphie faciale (front proéminent, rides infra-palpébrales, hyperpigmentation périorbitaire caractéristique) et un déficit immunitaire."},"de":{"name":"Hypohidrotische ektodermale Dysplasie mit Immundefekt","synonyms":["HED-ID"],"definition":"Ein seltene Störung aus der Gruppe der ektodermalen Dysplasien, die durch Anzeichen einer ektodermalen Dysplasie (spärliche Behaarung, abnorme oder fehlende Zähne, verminderte oder fehlende Schweißproduktion), typische Gesichtszüge (hervorstehende Stirn, Falten unter den Augen, charakteristische periorbitale Hyperpigmentierung) und Immundefizienz gekennzeichnet ist."},"es":{"name":"Displasia ectodérmica hipohidrótica con inmunodeficiencia","synonyms":["EDA-ID","HED-ID"],"definition":"Es un síndrome de displasia ectodérmica poco frecuente caracterizado por signos de displasia ectodérmica (cabello escaso, dientes anómalos o faltantes, sudoración disminuida o ausente), rasgos faciales típicos (frente prominente, pliegues infraorbitarios, hiperpigmentación periorbitaria característica) e inmunodeficiencia."},"it":{"name":"Displasia ectodermica ipoidrotica con immunodeficienza","synonyms":["Displasia ectodermica anidrotica con immunodeficienza","HED-ID"],"definition":"La displasia ectodermica ipoidrotica con immunodeficienza (HED-ID) è una forma di HED (si veda questo termine), caratterizzata da una anomalia delle strutture ectodermiche, compresa la cute, i capelli, i denti, le ghiandole sudoripare, associata ad una immunodeficienza."},"nl":{"name":"Hypohidrotische ectodermale dysplasie met immuundeficiëntie","synonyms":["HED-ID"],"definition":"Hypohidrotische ectodermale dysplasie met immuundeficiëntie (HED-ID) is een type van HED (zie deze term) dat gekenmerkt wordt door de malformatie van ectodermale structuren zoals huid, haar, tanden en zweetklieren, en geassocieerd wordt met immuundeficiëntie."},"pt":{"name":"Displasia ectodérmica hipohidrótica com imunodeficiência","synonyms":["HED-ID"]},"pl":{"name":"Hipohydrotycnza dysplazja ektodermallna z niedoborem odporności","synonyms":["Anhidrotyczna dysplazja ektodermalna z niedoborem odporności","EDA-ID"]},"cs":{"name":"Hypohidrotická ektodermální dysplázie spojená s imunodeficiencí","synonyms":["Anhidrotická ektodermální dysplázie spojená s imunodeficiencí","EDA-ID","HED-ID"]},"uk":{"name":"Гіпогідротична ектодермальна дисплазія з імунодефіцитом","synonyms":["Ангідротична ектодермальна дисплазія з імунодефіцитом","EDA-ID","HED-ID"],"definition":"A rare ectodermal dysplasia syndrome characterized by signs of ectodermal dysplasia (sparse hair, abnormal or missing teeth, decrease or absent sudation), typical facial features (protruding forehead, wrinkles under the eyes, characteristic periorbital hyperpigmentation), and immunodeficiency."},"zh":{"name":"少汗型外胚层发育不良伴免疫缺陷","synonyms":["无汗性外胚层发育不良伴免疫缺陷"],"definition":"少汗性外胚层发育不良伴免疫缺陷(HED-ID)以皮肤、毛发、牙齿和汗腺等外胚层结构畸形为特征，与免疫缺陷相关。"},"tr":{"name":"İmmün yetmezliği ile seyreden hipohidrotik ektodermal displazi","synonyms":["EDA-ID","HED-ID","İmmün yetmezlik ile seyreden anhidrotik ektodermal displazi"]}},"xrefs":[{"source":"OMIM","code":"300636","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"612132","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D82.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD27.02","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"376681933"},{"source":"MONDO","code":"0010293","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536181","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1846006","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"9936","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Referred to","orpha":319612,"name":"OBSOLETE: X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency","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]},{"orpha":506219,"name":"Rare disorder potentially indicated for hematopoietic stem cell transplant","classifications":[233]},{"orpha":717757,"name":"Rare immune disease with inflammatory bowel disease","classifications":[152,156,233]},{"orpha":331217,"name":"Syndrome with combined immunodeficiency","classifications":[156,195]}],"children":[],"genes":[{"symbol":"IKBKG","name":"inhibitor of nuclear factor kappa B kinase regulatory subunit gamma","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"5961","ensembl":"ENSG00000269335","omim":"300248","loci":["Xq28"]},{"symbol":"NFKBIA","name":"NFKB inhibitor alpha","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"18412279[PMID]","hgnc":"7797","ensembl":"ENSG00000100906","omim":"164008","loci":["14q13.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","X-linked recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.2,"area":"Europe","status":"Validated","source":"[EXPERT]"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2023-02-10","source":"22566850[PMID]_22517901[PMID]_28597146[PMID]","terms":[{"hpo":"HP:0010701","label":"Abnormal immunoglobulin level","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000698","label":"Conical tooth","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000968","label":"Ectodermal dysplasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001510","label":"Growth delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000966","label":"Hypohidrosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002718","label":"Recurrent bacterial infections","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008070","label":"Sparse hair","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0033581","label":"Absent peripheral lymph nodes in presence of infection","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002028","label":"Chronic diarrhea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002728","label":"Chronic mucocutaneous candidiasis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005404","label":"Increased B cell count","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100828","label":"Increased T cell count","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002037","label":"Inflammation of the large intestine","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011274","label":"Recurrent mycobacterial infections","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000403","label":"Recurrent otitis media","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002960","label":"Autoimmunity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002720","label":"Decreased circulating IgA level","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004315","label":"Decreased circulating IgG level","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004313","label":"Decreased circulating antibody level","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002850","label":"Decreased circulating total IgM","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000964","label":"Eczematoid dermatitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008872","label":"Feeding difficulties in infancy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031188","label":"Genital edema","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0040075","label":"Hypopituitarism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003212","label":"Increased circulating IgE concentration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003237","label":"Increased circulating IgG level","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003496","label":"Increased circulating IgM level","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0020101","label":"Invasive fungal infection","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008404","label":"Nail dystrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000938","label":"Osteopenia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010741","label":"Pedal edema","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011108","label":"Recurrent sinusitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031691","label":"Severe viral infection","frequency":"Occasional (29-5%)","criteria":null}]}}