{"orpha":3220,"name":"Deafness-enamel hypoplasia-nail defects syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Hearing loss-enamel hypoplasia-nail defects syndrome","Heimler syndrome"],"definition":"A rare genetic disease characterized by sensorineural hearing loss, abnormalities in the secondary dentition (such as enamel hypoplasia, taurodontism, or dental overcrowding), and nail abnormalities (including leukonychia and presence of transverse ridges). Association with macular dystrophy has also been reported.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-3220/","orphanet_url":"https://www.orpha.net/en/disease/detail/3220","names":{"fr":{"name":"Syndrome de surdité-hypoplasie de l'émail-anomalie des ongles","synonyms":["Syndrome de Heimler"],"definition":"Maladie génétique rare caractérisée par une surdité neurosensorielle, des anomalies des dents définitives (telles qu'une hypoplasie de l'émail, un taurodontisme ou un encombrement dentaire) et des anomalies des ongles (dont leuconychie et lignes de Beau). Une association avec la dystrophie maculaire a également été rapportée."},"de":{"name":"Schwerhörigkeit-Schmelzhypoplasie-Nageldefekte-Syndrom","synonyms":["Heimler-Syndrom"],"definition":"Eine genetisch bedingte syndromale Schwerhörigkeit, die durch Schallempfindungsschwerhörigkeit, Anomalien im sekundären Gebiss (z. B. Zahnschmelzhypoplasie, Taurodontismus oder Überbelegung der Zähne) und Nagelanomalien (einschließlich Leukonychien und Vorhandensein von Querrillen) gekennzeichnet ist. Es wurde auch über einen Zusammenhang mit Makuladystrophie berichtet."},"es":{"name":"Síndrome de sordera-hipoplasia del esmalte-anomalías en las uñas","synonyms":["Síndrome de hipoacusia-hipoplasia del esmalte-anomalías en las uñas"],"definition":"Es una enfermedad genética poco frecuente caracterizada por hipoacusia neurosensorial, anomalías dentarias secundarias (hipoplasia del esmalte, taurodontismo o apiñamiento dental) y anomalías ungueales (incluyendo leuconiquia y presencia de crestas transversales). También se ha descrito la asociación con distrofia macular."},"it":{"name":"Sindrome sordità-ipoplasia dello smalto-difetti ungueali","definition":"Si tratta di una malattia genetica rara, caratterizzata da sordità neurosensoriale, anomalie della dentizione permanente (ipoplasia dello smalto, taurodontismo o affastellamento dei denti) e anomalie delle unghie (leuconichia e creste trasversali). Può associarsi alla distrofia maculare."},"nl":{"name":"Doofheid - glazuurhypoplasie - nageldefecten-syndroom","synonyms":["Syndroom van Heimler"],"definition":"Een zeldzame, genetische aandoening, gekenmerkt door sensorineuraal gehoorverlies, afwijkingen van het blijvende gebit (zoals hypoplasie van tandglazuur, taurodontie, of ruimtegebrek van tanden), en nagelanomalieën (waaronder leukonychie en aanwezigheid van transversale groeven). Associatie met maculadystrofie werd ook reeds gerapporteerd."},"pt":{"name":"Síndrome de surdez-hipoplasia do esmalte-defeitos ungueais","synonyms":["Síndrome Heimler","Síndrome de perda auditiva-hipoplasia do esmalte-defeitos ungueais"]},"pl":{"name":"Głuchota - hipoplazja szkliwa - wady paznokci","synonyms":["Zespół Heimlera"]},"cs":{"name":"Syndrom zahrnující hluchotu, hypoplázii skloviny a defekty nehtů","synonyms":["Heimlerův syndrom"]},"uk":{"name":"Синдром глухоти-гіпоплазії емалі-дефектів нігтів","synonyms":["Синдром втрати слуху-гіпоплазії емалі-дефектів нігтів","Синдром Геймлера"],"definition":"A rare genetic disease characterized by sensorineural hearing loss, abnormalities in the secondary dentition (such as enamel hypoplasia, taurodontism, or dental overcrowding), and nail abnormalities (including leukonychia and presence of transverse ridges). Association with macular dystrophy has also been reported."},"zh":{"name":"耳聋-牙釉质发育不全-指甲缺损综合征","synonyms":["听力丧失-牙釉质发育不全-甲缺损综合征"]},"tr":{"name":"Sağırlık-mine hipoplazisi-tırnak defektleri sendromu","synonyms":["Heimler sendromu","İşitme kaybı-enamel hipoplazisi-tırnak defektleri sendromu"]}},"xrefs":[{"source":"OMIM","code":"234580","qualifier":"E","icd_relation":null,"validated":true},{"source":"OMIM","code":"616617","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q82.4","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD27.0Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1277620176"},{"source":"MONDO","code":"0100229","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535994","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1856186","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"1687","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":79373,"name":"Ectodermal dysplasia syndrome","classifications":[147,156,187]},{"orpha":183580,"name":"Genetic malformation syndrome with odontal and/or periodontal component","classifications":[156]},{"orpha":139042,"name":"Malformation syndrome with odontal and/or periodontal component","classifications":[147,197]},{"orpha":90642,"name":"Rare syndromic genetic deafness","classifications":[147,156,200]}],"children":[],"genes":[{"symbol":"PEX1","name":"peroxisomal biogenesis factor 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"26387595[PMID]","hgnc":"8850","ensembl":"ENSG00000127980","omim":"602136","loci":["7q21.2"]},{"symbol":"PEX6","name":"peroxisomal biogenesis factor 6","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"26387595[PMID]","hgnc":"8859","ensembl":"ENSG00000124587","omim":"601498","loci":["6p21.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_26387595[PMID]_27633571[PMID]_27302843[PMID]"},{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":15.0,"area":"Worldwide","status":"Validated","source":"26387595[PMID]_27633571[PMID]_27302843[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-10-12","source":"2063923[PMID]","terms":[{"hpo":"HP:0000534","label":"Abnormal eyebrow morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000492","label":"Abnormal eyelid morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001231","label":"Abnormal fingernail morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011362","label":"Abnormal hair quantity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000614","label":"Abnormal nasolacrimal system morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008388","label":"Abnormal toenail morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000682","label":"Abnormality of dental enamel","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100643","label":"Abnormality of nail color","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000164","label":"Abnormality of the dentition","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000819","label":"Diabetes mellitus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003241","label":"External genital hypoplasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000135","label":"Hypogonadism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003777","label":"Pili torti","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000407","label":"Sensorineural hearing impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000679","label":"Taurodontia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0045074","label":"Thin eyebrow","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011675","label":"Arrhythmia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001176","label":"Large hands","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000786","label":"Primary amenorrhea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000311","label":"Round face","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000956","label":"Acanthosis nigricans","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100490","label":"Camptodactyly of finger","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002514","label":"Cerebral calcification","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002750","label":"Delayed skeletal maturation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009890","label":"High anterior hairline","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001265","label":"Hyporeflexia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008064","label":"Ichthyosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010547","label":"Muscle flaccidity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009830","label":"Peripheral neuropathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000763","label":"Sensory neuropathy","frequency":"Occasional (29-5%)","criteria":null}]}}