{"orpha":3473,"name":"Zimmermann-Laband syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Gingival fibromatosis-hepatosplenomegaly-other anomalies syndrome","Laband syndrome"],"definition":"A rare genetic multiple congenital anomalies syndrome characterized by gingival fibromatosis, coarse facial appearance, and absence or hypoplasia of nails or terminal phalanges of hands and feet.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-3473/","orphanet_url":"https://www.orpha.net/en/disease/detail/3473","names":{"fr":{"name":"Syndrome de Zimmermann-Laband","synonyms":["Syndrome de Laband","Syndrome de fibromatose gingivale-hépatosplénomégalie-autres anomalies"],"definition":"Syndrome génétique rare d'anomalies congénitales multiples, caractérisé par une fibromatose gingivale, une dysmorphie faciale et une absence ou une hypoplasie des ongles ou des phalanges terminales au niveau des mains et des pieds."},"de":{"name":"Zimmerman-Laband-Syndrom","synonyms":["Laband-Syndrom"],"definition":"Ein seltenes genetisches Syndrom mit multiplen kongenitalen Anomalien, das durch Zahnfleischfibromatose, vergröberte Gesichtszüge und das Fehlen oder die Hypoplasie von Nägeln oder Endgliedern der Hände und Füße gekennzeichnet ist."},"es":{"name":"Síndrome de Zimmermann-Laband","synonyms":["Fibromatosis gingival-hepatosplenomegalia-otras anomalías","Síndrome de Laband"],"definition":"Es un síndrome genético poco frecuente de anomalías congénitas múltiples caracterizado por fibromatosis gingival, aspecto facial tosco y ausencia o hipoplasia de las uñas o de las falanges distales de las manos y de los pies."},"it":{"name":"Sindrome di Zimmermann-Laband","synonyms":["Fibromatosi gengivale - epatosplenomegalia - altre anomalie","Sindrome di Laband"],"definition":"La sindrome di Zimmerman-Laband (ZLS) è una malattia genetica rara da anomalie congenite multiple, caratterizzata da fibromatosi gengivale, aspetto grossolano del viso, e agenesia o ipoplasia delle unghie o delle falangi terminali delle mani e dei piedi."},"nl":{"name":"Syndroom van Zimmermann-Laband","synonyms":["Gingivale fibromatose - hepatosplenomegalie - andere anomalieën-syndroom","Syndroom van Laband"],"definition":"Een zeldzaam, genetisch syndroom met multipele congenitale anomalieën, gekenmerkt door fibromatose van tandvlees, ruwe gelaatstrekken, en afwezigheid of hypoplasie van nagels of terminale falangen van handen en voeten."},"pt":{"name":"Síndrome Zimmerman-Laband","synonyms":["Síndrome de fibromatose gengival-hepatosplenomegalia-outras anomalias","Síndrome Laband"],"definition":"A síndrome de Zimmermann-Laband (ZLS) é uma patologia rara caracterizada por fibromatose gengival, aparência facial grosseira e ausência ou hipoplasia das unhas ou falanges terminais das mãos e dos pés."},"pl":{"name":"Zespół Zimmermanna i Labanda","synonyms":["Fibromatoza dziąseł - hepatosplenomegalia - inne wady","Zespół Labanda"]},"cs":{"name":"Labandův-Zimmermannův syndrom","synonyms":["Syndrom zahrnující fibromatózu dásní, hepatosplenomegalii a další anomálie","Labandův syndrom","Laband-Zimmermannův syndrom"]},"uk":{"name":"Синдром Циммермана-Лабанда","synonyms":["Синдром фіброматозу ясен-гепатоспленомегалії-інших аномалій","Синдром Лабанда"],"definition":"A rare genetic multiple congenital anomalies syndrome characterized by gingival fibromatosis, coarse facial appearance, and absence or hypoplasia of nails or terminal phalanges of hands and feet."},"zh":{"name":"Zimmermann-Laband综合征","synonyms":["牙龈纤维瘤病-肝脾肿大-其它畸形综合征"]},"tr":{"name":"Zimmermann-Laband sendromu","synonyms":["Laband sendromu","Gingival fibromatoz-hepatosplenomegali-diğer anomaliler sendromu"]}},"xrefs":[{"source":"OMIM","code":"135500","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"616455","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"618658","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"618729","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD2F.1Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"8285962"},{"source":"MONDO","code":"0000200","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536725","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0796013","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"385","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10081859","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":183580,"name":"Genetic malformation syndrome with odontal and/or periodontal component","classifications":[156]},{"orpha":611327,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[156]},{"orpha":139042,"name":"Malformation syndrome with odontal and/or periodontal component","classifications":[147,197]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]}],"children":[],"genes":[{"symbol":"KCNN3","name":"potassium calcium-activated channel subfamily N member 3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (gain of function) in","status":"Assessed","source":"31155282[PMID]","hgnc":"6292","ensembl":"ENSG00000143603","omim":"602983","loci":["1q21.3"]},{"symbol":"ATP6V1B2","name":"ATPase H+ transporting V1 subunit B2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"25915598[PMID]","hgnc":"854","ensembl":"ENSG00000147416","omim":"606939","loci":["8p21.3"]},{"symbol":"KCNH1","name":"potassium voltage-gated channel subfamily H member 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"25915598[PMID]","hgnc":"6250","ensembl":"ENSG00000143473","omim":"603305","loci":["1q32.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":52.0,"area":"Worldwide","status":"Validated","source":"23994350[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"23994350[PMID]_ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-03-19","source":"27282200[PMID]_23994350[PMID]_26818898[PMID]","terms":[{"hpo":"HP:0000169","label":"Gingival fibromatosis","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0001817","label":"Absent fingernail","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009102","label":"Anterior open-bite malocclusion","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000414","label":"Bulbous nose","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004554","label":"Generalized hypertrichosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001804","label":"Hypoplastic fingernail","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001382","label":"Joint hypermobility","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002265","label":"Large fleshy ears","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009894","label":"Thickened ears","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000154","label":"Wide mouth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000445","label":"Wide nose","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030680","label":"Abnormal cardiovascular system morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000811","label":"Abnormal external genitalia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000193","label":"Bifid uvula","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000518","label":"Cataract","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000175","label":"Cleft palate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000494","label":"Downslanted palpebral fissures","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002219","label":"Facial hypertrichosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008947","label":"Floppy infant","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001510","label":"Growth delay","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001822","label":"Hallux valgus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002240","label":"Hepatomegaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000218","label":"High palate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000668","label":"Hypodontia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000527","label":"Long eyelashes","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000158","label":"Macroglossia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001761","label":"Pes cavus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001763","label":"Pes planus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000470","label":"Short neck","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000977","label":"Soft skin","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001744","label":"Splenomegaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011069","label":"Supernumerary tooth","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000506","label":"Telecanthus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000574","label":"Thick eyebrow","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006191","label":"Deep palmar crease","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001869","label":"Deep plantar creases","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0007440","label":"Generalized hyperpigmentation","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0006391","label":"Overtubulated long bones","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000407","label":"Sensorineural hearing impairment","frequency":"Very rare (<4-1%)","criteria":null}]}}