{"orpha":1387,"name":"Cataract-intellectual disability-hypogonadism syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Martsolf syndrome"],"definition":"A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by congenital cataract, mild-to-severe intellectual disability and characteristic facial dysmorphism including ptosis, deep-set eyes, wide nasal bridge, macrotia and micrognathia. Common clinical features include brain abnormalities, microcephaly, short stature, hypogonadism, external genital hypoplasia and skeletal abnormalities. Spastic diplegia can sometimes occur.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1387/","orphanet_url":"https://www.orpha.net/en/disease/detail/1387","names":{"fr":{"name":"Syndrome de cataracte-déficience intellectuelle-hypogonadisme","synonyms":["Syndrome de Martsolf"],"definition":"Anomalies congénitales multiples/syndrome dysmorphique rare d'origine génétique caractérisé par une cataracte congénitale, une déficience intellectuelle légère à sévère et une dysmorphie faciale caractéristique comprenant un ptosis, des yeux enfoncés dans les orbites, un pont nasal large, une macrotie et une micrognathie. Les signes cliniques courants comprennent des anomalies cérébrales, une microcéphalie, une petite taille, un hypogonadisme, une hypoplasie des organes génitaux externes et des anomalies squelettiques. Une diplégie spastique est parfois observée."},"de":{"name":"Katarakt-Intelligenzminderung-Hypogonadismus-Syndrom","synonyms":["Martsolf-Syndrom"],"definition":"Ein seltenes Fehlbildungssyndrom mit multiplen kongenitalen Anomalien-/Dysmorphien, das durch kongenitale Katarakt, leichte bis schwere Intelligenzminderung und charakteristische Gesichtsdysmorphien wie Ptosis, tiefliegende Augen, breite Nasenrücken, Makrotie und Mikrognathie gekennzeichnet ist. Zu den häufigen klinischen Merkmalen gehören Gehirnanomalien, Mikrozephalie, Kleinwuchs, Hypogonadismus, Hypoplasie der äußeren Genitalien und Skelettanomalien. Manchmal kann eine spastische Diplegie auftreten."},"es":{"name":"Síndrome de catarata-discapacidad intelectual-hipogonadismo","synonyms":["Síndrome de Martsolf"],"definition":"Es un síndrome dismórfico/de múltiples anomalías congénitas, de origen genético y poco frecuente, caracterizado por cataratas congénitas, discapacidad intelectual de leve a grave y dismorfia facial característica que incluye ptosis, ojos hundidos, puente nasal ancho, macrotia y micrognatia. Las características clínicas comunes incluyen anomalías cerebrales, microcefalia, talla baja, hipogonadismo, hipoplasia genital externa y anomalías esqueléticas. Ocasionalmente puede asociar diplejía espástica."},"it":{"name":"Sindrome cataratta-disabilità intellettiva-ipogonadismo","synonyms":["Sindrome di Marsolf"]},"nl":{"name":"Cataract - intellectuele achterstand - hypogonadisme-syndroom","synonyms":["Syndroom van Martsolf"],"definition":"Een zeldzaam genetisch syndroom met multipele congenitale anomalieën/dysmorfie, gekenmerkt door congenitaal cataract, milde tot ernstige intellectuele achterstand en typische faciale dysmorfie met ptosis, diepliggende ogen, brede neusbrug, macrotie en micrognathie. Gangbare klinische kenmerken zijn hersenafwijkingen, microcefalie, kleine gestalte, hypogonadisme, hypoplasie van uitwendige geslachtsorganen en skeletafwijkingen. Spastische diplegie kan soms voorkomen."},"pt":{"name":"Síndrome de catarata-perturbação do desenvolvimento intelectual-hipogonadismo","synonyms":["Síndrome Martsolf"],"definition":"Esta síndrome é caracterizada pela associação de perturbação do desenvolvimento intelectual, catarata congénita e hipogonadismo hipogonadotrópico."},"pl":{"name":"Zaćma - niepełnosprawność intelektualna - hipogonadyzm","synonyms":["Zespół Martsolfa"]},"cs":{"name":"Syndrom zahrnující kataraktu, mentální retardaci a hypogonadismus","synonyms":["Martsolfův syndrom"]},"uk":{"name":"Синдром катаракти - інтелектуальної недостатності - гіпогонадизму","synonyms":["Синдром Марцольфа"],"definition":"This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism."},"zh":{"name":"白内障-智力障碍-性腺功能减退综合征","synonyms":["Martsolf综合征"]},"tr":{"name":"Katarakt-zihinsel yetersizlik-hipogonadizm sendromu","synonyms":["Martsolf sendromu"]}},"xrefs":[{"source":"OMIM","code":"212720","qualifier":"E","icd_relation":null,"validated":true},{"source":"OMIM","code":"619420","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5A61.0","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"702011756"},{"source":"MeSH","code":"C536028","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0796037","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"3406","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":611327,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[156]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]},{"orpha":181387,"name":"Rare disorder with multisystemic involvement and congenital hypogonadotropic hypogonadism","classifications":[156,193,201,205]},{"orpha":98641,"name":"Syndromic cataract","classifications":[189]},{"orpha":522548,"name":"Syndromic genetic cataract","classifications":[156]}],"children":[],"genes":[{"symbol":"RAB3GAP1","name":"RAB3 GTPase activating protein catalytic subunit 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"23420520[PMID]","hgnc":"17063","ensembl":"ENSG00000115839","omim":"602536","loci":["2q21.3"]},{"symbol":"RAB3GAP2","name":"RAB3 GTPase activating non-catalytic protein subunit 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"23420520[PMID]","hgnc":"17168","ensembl":"ENSG00000118873","omim":"609275","loci":["1q41"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":20.0,"area":"Worldwide","status":"Validated","source":"23420520[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":"2016-06-01","source":null,"terms":[{"hpo":"HP:0007477","label":"Abnormal dermatoglyphics","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000518","label":"Cataract","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000232","label":"Everted lower lip vermilion","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008872","label":"Feeding difficulties in infancy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000221","label":"Furrowed tongue","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000044","label":"Hypogonadotropic hypogonadism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002162","label":"Low posterior hairline","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000272","label":"Malar flattening","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011800","label":"Midface retrusion","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007495","label":"Prematurely aged appearance","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000322","label":"Short philtrum","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009832","label":"Abnormal distal phalanx morphology of finger","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008388","label":"Abnormal toenail morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001155","label":"Abnormality of the hand","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000248","label":"Brachycephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005280","label":"Depressed nasal bridge","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000218","label":"High palate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003307","label":"Hyperlordosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000601","label":"Hypotelorism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000358","label":"Posteriorly rotated ears","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000692","label":"Tooth malposition","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009465","label":"Ulnar deviation of finger","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009738","label":"Abnormality of the antihelix","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002120","label":"Cerebral cortical atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Occasional (29-5%)","criteria":null}]}}