{"orpha":168563,"name":"46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome is a rare, genetic, developmental defect during embryogenesis disorder characterized by partial (unilateral testis, persistence of Müllerian duct structures) or complete (streak gonads only) gonadal dysgenesis, usually manifesting with primary amenorrhea in individuals with female phenotype but 46,XY karyotype, and sensorimotor dysmyelinating minifascicular polyneuropathy, which presents with numbness, weakness, exercise-induced muscle cramps, sensory disturbances and reduced/absent deep tendon reflexes. Germ cell tumors (seminoma, dysgerminoma, gonadoblastoma) may develop from the gonadal tissue.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-168563/","orphanet_url":"https://www.orpha.net/en/disease/detail/168563","names":{"fr":{"name":"Syndrome de dysgénésie gonadique 46,XY-neuropathie motrice et sensitive","definition":"Anomalie rare du développement embryonnaire d'origine génétique caractérisée par une dysgénésie gonadique partielle (testicule unilatéral, persistance de structures müllériennes) ou complète (stries gonadiques uniquement), se manifestant généralement par une aménorrhée primaire chez les individus présentant un phénotype féminin mais un caryotype 46,XY, et une polyneuropathie minifasciculaire dysmyélinisante sensorimotrice, se manifestant par un engourdissement, une faiblesse, des crampes musculaires induites par l'exercice, des troubles sensoriels et une réduction/absence des réflexes tendineux profonds. Les tumeurs germinales (séminome, dysgerminome, gonadoblastome) peuvent se développer à partir du tissu gonadique."},"de":{"name":"46,XY-Gonadendysgenesie mit motorisch-sensorischer Neuropathie","synonyms":["XY-Gonadendysgenesie - minifaszikuläre Neuropathie"]},"es":{"name":"Síndrome de disgenesia gonadal 46 XY-neuropatía sensitivo-motora","synonyms":["Síndrome de disgenesia gonadal 46 XY-neuropatía minifascicular"],"definition":"Es un defecto del desarrollo embrionario de origen genético y poco frecuente caracterizado por disgenesia gonadal parcial (testículo unilateral, persistencia de las estructuras del conducto de Müller) o completa (solo cintillas gonadales) que, por lo general, se manifiesta con amenorrea primaria en individuos con fenotipo femenino pero con cariotipo 46, XY y polineuropatía minifascicular desmielinizante sensitivo-motora, que se presenta con entumecimiento, debilidad, calambres musculares inducidos por el ejercicio, trastornos sensitivos y ausencia / disminución de los reflejos osteotendinosos. Los pacientes pueden desarrollar tumores de células germinales (seminoma, disgerminoma, gonadoblastoma) a partir del tejido gonadal."},"it":{"name":"Disgenesia gonadica 46,XY - neuropatia sensitivo-motoria","definition":"La sindrome che associa la disgenesia gonadica 46,XY e la neuropatia sentivo-motoria è un difetto genetico raro dello sviluppo dell'embrione, caratterizzato dalla disgenesia gonadica parziale (testicolo monolaterale, persistenza delle strutture dei dotti mülleriani) o completa (gonadi ''a striscia''). Di solito la malattia esordisce con amenorrea primaria in soggetti con fenotipo femminile a cariotipo 46,XY e con polineuropatia sensitivo-motoria minifascicolare demileinizzante, che si manifesta con insensibilità, debolezza, crampi muscolari indotti dall'esercizio fisico, deficit sensoriali e riduzione/assenza dei riflessi tendinei profondi. Dal tessuto gonadico possono svilupparsi tumori delle cellule germinali (seminoma, disgerminoma, gonadoblastoma)."},"nl":{"name":"46,XY gonadale dysgenesie - motorische en sensorische neuropathie","definition":"46,XY gonadale dysgenesie - motorische en sensorische neuropathie-syndroom is een zeldzaam, genetisch ontwikkelingsdefect tijdens de embryogenese, en wordt gekarakteriseerd door partiële (unilaterale teelbal, persisterende structuren van kanaal van Müller) of volledige (enkel 'streak'-gonaden, i.e. bindweefselstrengen zonder geslachtsklierweefsel) dysgenesie van gonaden, die zich meestal manifesteert met primaire amenorroe bij individuen met vrouwelijk fenotype maar 46,XY karyotype, en door motorische en sensorische dysmyeliniserende minifasciculaire polyneuropathie, die zich presenteert met gevoelloosheid, zwakte, inspanningsgeïnduceerde spierkrampen, zintuiglijke stoornissen en verminderde/afwezige diepe peesreflexen. Kiemceltumoren (seminoom, dysgerminoom, gonadoblastoom) kunnen ontwikkelen uit het gonadale weefsel."},"pt":{"name":"Síndrome de disgenesia gonadal 46,XY-neuropatia sensitiva e motora"},"pl":{"name":"46,XY dysgenezja gonad - ruchowa i czuciowa neuropatia"},"cs":{"name":"Syndrom zahrnující 46 XY gonadální dysgenezi a motorickou a senzorickou neuropatii"},"uk":{"name":"Синдром 46,XY дисгенезії гонад-моторної та сенсорної нейропатії","definition":"46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome is a rare, genetic, developmental defect during embryogenesis disorder characterized by partial (unilateral testis, persistence of Müllerian duct structures) or complete (streak gonads only) gonadal dysgenesis, usually manifesting with primary amenorrhea in individuals with female phenotype but 46,XY karyotype, and sensorimotor dysmyelinating minifascicular polyneuropathy, which presents with numbness, weakness, exercise-induced muscle cramps, sensory disturbances and reduced/absent deep tendon reflexes. Germ cell tumors (seminoma, dysgerminoma, gonadoblastoma) may develop from the gonadal tissue."},"zh":{"name":"46，XY性腺发育不全 - 运动和感觉神经病综合征","definition":"46，XY性腺发育障碍-运动感觉神经病变综合征是一种罕见的遗传性胚胎发育障碍疾病，其主要临床表现为部分或完全性腺发育不全，部分性腺发育不全表现为单侧睾丸、持续存在苗勒管结构，完全性腺发育不全仅表现为条纹状性腺。核型为46，XY但表型为女性的个体通常出现原发性闭经和感觉运动性髓鞘形成障碍性小型神经束型神经病变，具体表现为麻木、无力、运动诱发的肌痉挛、感觉障碍和深反射减弱或缺失。性腺组织可能会发展成生殖细胞肿瘤（如精原细胞瘤、无性细胞瘤、性腺母细胞瘤）。"},"tr":{"name":"46, XY gonadal disgenezi-motor ve duyusal nöropati sendromu"}},"xrefs":[{"source":"OMIM","code":"607080","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q56.1","qualifier":"BTNT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD2A.1","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"542811422"},{"source":"MONDO","code":"0011766","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5190810","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":506213,"name":"Rare disorder potentially indicated for kidney transplant","classifications":[233]},{"orpha":98087,"name":"Syndrome with 46,XY difference of sex development","classifications":[147,156,185,193]},{"orpha":325638,"name":"Syndrome with difference of sex development of gynecological interest","classifications":[156,205]}],"children":[],"genes":[{"symbol":"DHH","name":"desert hedgehog signaling molecule","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"11017805[PMID]","hgnc":"2865","ensembl":"ENSG00000139549","omim":"605423","loci":["12q13.12"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":5.0,"area":"Worldwide","status":"Validated","source":"22209139[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_22209139[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-05-23","source":"17768021[PMID]_17768021[PMID]_10483790[PMID]_11891836[PMID]_7076870[PMID]","terms":[{"hpo":"HP:0003130","label":"Abnormal peripheral myelination","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000055","label":"Abnormality of female external genitalia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003134","label":"Abnormality of peripheral nerve conduction","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0045010","label":"Abnormality of peripheral nerves","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000142","label":"Abnormality of the vagina","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008214","label":"Decreased serum estradiol","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0040171","label":"Decreased serum testosterone concentration","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002460","label":"Distal muscle weakness","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003409","label":"Distal sensory impairment of all modalities","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000133","label":"Gonadal dysgenesis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008723","label":"Gonadal dysgenesis with female appearance, male","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000013","label":"Hypoplasia of the uterus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000837","label":"Increased circulating gonadotropin level","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000789","label":"Infertility","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000026","label":"Male hypogonadism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001271","label":"Polyneuropathy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000786","label":"Primary amenorrhea","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001315","label":"Reduced tendon reflexes","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007141","label":"Sensorimotor neuropathy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003434","label":"Sensory ataxic neuropathy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003202","label":"Skeletal muscle atrophy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010464","label":"Streak ovary","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008715","label":"Testicular dysgenesis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000150","label":"Gonadoblastoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001761","label":"Pes cavus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003376","label":"Steppage gait","frequency":"Occasional (29-5%)","criteria":null}]}}