{"orpha":2273,"name":"Ichthyosis follicularis-alopecia-photophobia syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["IFAP syndrome","Ichthyosis follicularis-atrichia-photophobia syndrome"],"definition":"A rare genetic disorder characterized by the triad of ichthyosis follicularis, alopecia, and photophobia from birth.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2273/","orphanet_url":"https://www.orpha.net/en/disease/detail/2273","names":{"fr":{"name":"Syndrome d'ichtyose folliculaire-alopécie-photophobie","synonyms":["Syndrome IFAP","Syndrome d'ichtyose folliculaire-atrichie-photophobie"],"definition":"Le syndrome ichtyose folliculaire-alopécie-photophobie (IFAP) est un syndrome génétique rare caractérisé par la triade ichthyose folliculaire, alopécie et photophobie dès la naissance."},"de":{"name":"Ichthyosis follicularis-Alopezie-Photophobie-Syndrom","synonyms":["IFAP-Syndrom","Ichthyosis follicularis-Atrichie-Photophobie-Syndrom"],"definition":"Eine seltene genetische Krankheit, die gekennzeichnet ist durch die Trias Ichthyosis follicularis, Alopezie und Photophobie."},"es":{"name":"Síndrome de ictiosis folicular-alopecia-fotofobia","synonyms":["Ictiosis folicular-atriquia-fotofobia","Síndrome IFAP"],"definition":"Es un trastorno de origen genético poco frecuente caracterizado por la tríada de ictiosis folicular, alopecia y fotofobia desde el nacimiento."},"it":{"name":"Ittiosi follicolare - alopecia - fotofobia","synonyms":["Ittiosi follicolare - atrichia - fotofobia","Sindrome IFAP"],"definition":"L'ittiosi follicolare - alopecia - fotofobia (IFAP) è una malattia genetica rara caratterizzata sin dalla nascita dalla triade ittiosi follicolare, alopecia e fotofobia."},"nl":{"name":"Folliculaire ichthyosis - alopecie - fotofobie-syndroom","synonyms":["IFAP-syndroom","Ichthyosis follicularis - atrichie - fotofobie-syndroom"],"definition":"Een zeldzame genetische aandoening, gekenmerkt door de triade van ichthyosis follicularis, alopecie, en fotofobie vanaf de geboorte."},"pt":{"name":"Síndrome ictiose folicular-alopecia-fotofobia","synonyms":["Síndrome IFAP","Síndrome ictiose folicular-atriquia-fotofobia"],"definition":"A ictiose folicular - alopecia - fotofobia (IFAP) é uma doença genética rara caracterizada pela tríade clínica de ictiose folicular, alopecia, e fotofobia desde o nascimento."},"pl":{"name":"Rybia łuska mieszkowa - łysienie - światłowstręt","synonyms":["Rybia łuska mieszkowa - atrichia - światłowstręt","Zespół IFAP"]},"cs":{"name":"Syndrom zahrnující folikulární ichtyózu, alopecii a fotofobii","synonyms":["IFAP syndrom","Sydrom zahrnující folikulární ichtyózu, plešatost a fotofobii"]},"uk":{"name":"Синдром фолікулярного іхтіозу-алопеції-світлобоязні","synonyms":["Синдром фолікулярного іхтіозу-атрихії-світлобоязні","Синдром IFAP"],"definition":"Ichthyosis follicularis - alopecia - photophobia (IFAP) is a rare genetic disorder characterized by the triad of ichthyosis follicularis, alopecia, and photophobia from birth."},"zh":{"name":"毛囊性鱼鳞病-脱发-畏光综合症","synonyms":["毛囊性鱼鳞病-脱发-畏光综合症"]},"tr":{"name":"İktiyoz follicularis-alopesi-fotofobi sendromu","synonyms":["IFAP sendromu","İktiyoz folikülaris-atrişi-fotofobi sendromu"]}},"xrefs":[{"source":"OMIM","code":"308205","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"619016","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q80.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD27.2","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"883025082"},{"source":"MONDO","code":"0100213","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"100212","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"100213","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536085","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1839988","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"2952","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":89826,"name":"Rare skin disease"},"parents":[{"orpha":79364,"name":"Alopecia","classifications":[187]},{"orpha":481771,"name":"Genetic alopecia","classifications":[156]},{"orpha":139027,"name":"Rare developmental defect with skin/mucosae involvement","classifications":[147,156]},{"orpha":281210,"name":"X-linked ichthyosis syndrome","classifications":[156,187]}],"children":[],"genes":[{"symbol":"MBTPS2","name":"membrane bound transcription factor peptidase, site 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"21600032[PMID]","hgnc":"15455","ensembl":"ENSG00000012174","omim":"300294","loci":["Xp22.12"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Not applicable","X-linked recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":40.0,"area":"Worldwide","status":"Validated","source":"21600032[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-07-12","source":null,"terms":[{"hpo":"HP:0001595","label":"Abnormality of the hair","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001596","label":"Alopecia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008064","label":"Ichthyosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0200034","label":"Papule","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000613","label":"Photophobia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008070","label":"Sparse hair","frequency":"Very frequent 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(79-30%)","criteria":null},{"hpo":"HP:0000964","label":"Eczematoid dermatitis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010783","label":"Erythema","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011968","label":"Feeding difficulties","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001510","label":"Growth delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002046","label":"Heat intolerance","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001812","label":"Hyperconvex fingernails","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000962","label":"Hyperkeratosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000966","label":"Hypohidrosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001804","label":"Hypoplastic fingernail","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002721","label":"Immunodeficiency","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001268","label":"Mental deterioration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002718","label":"Recurrent bacterial infections","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002719","label":"Recurrent infections","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002205","label":"Recurrent respiratory infections","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0045074","label":"Thin eyebrow","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012742","label":"Thin fingernail","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000492","label":"Abnormal eyelid morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0040163","label":"Abnormal pelvis bone morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003468","label":"Abnormal vertebral 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