{"orpha":284339,"name":"Pontocerebellar hypoplasia type 7","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["PCH7","Pontocerebellar hypoplasia-46,XY disorder of sex development syndrome"],"definition":"Pontocerebellar hypoplasia type 7 (PCH7) is a novel very rare form of pontocerebellar hypoplasia with unknown etiology and poor prognosis reported in four patients and is characterized clinically during the neonatal period by hypotonia, no palpable gonads, micropenis and from infancy by progressive microcephaly, apneic episodes, poor feeding, seizures and regression of penis. MRI demonstrates a pontocerebellar hypoplasia. PCH7 is expressed as PCH with 46,XY disorder of sex development in individuals with XY karyotype, and may be expressed as PCH only in individuals with XX karyotype.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-284339/","orphanet_url":"https://www.orpha.net/en/disease/detail/284339","names":{"fr":{"name":"Hypoplasie pontocérébelleuse type 7","synonyms":["HPC7","PCH7","Syndrome d'hypoplasie pontocérébelleuse-anomalie du développement sexuel 46,XY"],"definition":"Nouvelle forme très rare d'hypoplasie pontocérébelleuse d'étiologie inconnue et de pronostic défavorable, rapportée chez quatre patients. Sur le plan clinique, pendant la période néonatale la maladie se caractérise par une hypotonie, une absence de gonades palpables, un micropénis, et dès la petite enfance, par une microcéphalie progressive, des épisodes d'apnée, des troubles alimentaires, des crises convulsives et une régression du pénis. L'IRM met en évidence une hypoplasie pontocérébelleuse. La PCH7 se manifeste sous forme de PCH avec anomalie du développement sexuel 46,XY chez les individus présentant un caryotype XY, et peut se manifester sous forme de PCH seule chez les individus présentant un caryotype XX."},"de":{"name":"Pontozerebelläre Hypoplasie Typ 7","synonyms":["PCH7","Pontozerebelläre Hypoplasie - Störung der Geschlechtsentwicklung 46,XY"]},"es":{"name":"Hipoplasia pontocerebelosa tipo 7","synonyms":["HPC7","Hipoplasia pontocerebelosa-trastorno del desarrollo sexual 46,XY"],"definition":"Es una forma muy poco frecuente de hipoplasia pontocerebelosa de etiología desconocida y mal pronóstico descrita en cuatro pacientes. Se caracteriza clínicamente durante el período neonatal en base a la hipotonía, ausencia de gónadas palpables, micropene y, desde la lactancia, por microcefalia progresiva, episodios de apnea, mala alimentación, crisis y regresión del pene. La RM evidencia una hipoplasia pontocerebelosa. El trastorno se expresa como HPC con trastorno del desarrollo sexual 46,XY en individuos con cariotipo XY, y puede expresarse únicamente como PCH en individuos con cariotipo XX."},"it":{"name":"Ipoplasia pontocerebellare, tipo 7","synonyms":["Ipoplasia pontocerebellare - disturbo dello sviluppo sessuale 46,XY","PCH7"]},"nl":{"name":"Pontocerebellaire hypoplasie type 7","synonyms":["PCH7","Pontocerebellaire hypoplasie - 46,XY-geslachtsontwikkelingsstoornis-syndroom"],"definition":"Pontocerebellaire hypoplasie type 7 (PCH7) is een nieuwe, zeer zeldzame vorm van pontocerebellaire hypoplasie (zie deze term) met onbekende etiologie en ongunstige prognose, gerapporteerd in vier patiënten, en wordt klinisch gekenmerkt door hypotonie, geen tastbare gonaden en micropenis tijdens de neonatale periode en door progressieve microcefalie, episodes van apnoe, voedingsproblemen, insulten en regressie van de penis vanaf de eerste kinderjaren. MRI toont een pontocerebellaire hypoplasie aan. PCH7 wordt uitgedrukt als PCH met 46,XY-geslachtsontwikkelingsstoornis (zie deze term) in individuen met XY-karyotype en kan uitgedrukt worden als enkel PCH in individuen met XX-karyotype."},"pt":{"name":"Hipoplasia pontocerebelosa tipo 7"},"pl":{"name":"Hipoplazja mostowo-móżdżkowa typu 7","synonyms":["Hipoplazja mostowo-móżdżkowa-zaburzenie różnicowania płci o kariotypie 46,XY","PCH7"]},"cs":{"name":"Pontocerebelární hypoplázie, typ 7","synonyms":["PCH7","Syndrom zahrnující pontocerebelární hypoplázii a 46,XY poruchu sexuálního vývoje"]},"uk":{"name":"Гіпоплазія мозочка, тип 7","synonyms":["PCH7","Понтоцеребелярна гіпоплазія-46,XY синдром порушення статевого розвитку"],"definition":"Pontocerebellar hypoplasia type 7 (PCH7) is a novel very rare form of pontocerebellar hypoplasia (see this term) with unknown etiology and poor prognosis reported in four patients and is characterized clinically during the neonatal period by hypotonia, no palpable gonads, micropenis and from infancy by progressive microcephaly, apneic episodes, poor feeding, seizures and regression of penis. MRI demonstrates a pontocerebellar hypoplasia. PCH7 is expressed as PCH with 46,XY disorder of sex development (see this term) in individuals with XY karyotype, and may be expressed as PCH only in individuals with XX karyotype."},"zh":{"name":"桥小脑发育不全7型","synonyms":["桥小脑发育不良-46，XY-性发育障碍综合征"],"definition":"脑桥小脑发育不全7型（PCH7）是一种新的非常罕见的脑桥小脑发育不全（见本术语），病因不明，在四例患者中报道预后不良。新生儿期表现为肌张力低下，无性腺、小阴茎，婴儿期开始的进行性小头畸形、呼吸暂停，喂养困难，癫痫发作和阴茎退化。MRI显示脑桥小脑发育不全。PCH7在XY核型个体中表现为46，XY性发育障碍（见本术语）的PCH，并可能仅在XX核型个体中表示为PCH。"},"tr":{"name":"Pontoserebellar hipoplazi tip 7","synonyms":["PCH7","Pontoserebellar hipoplazi-46, XY cinsiyet gelişim bozukluğu sendromu"]}},"xrefs":[{"source":"OMIM","code":"614969","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q04.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0013993","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C3554226","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":98523,"name":"Pontocerebellar hypoplasia","classifications":[147,156,181]}],"children":[],"genes":[{"symbol":"TOE1","name":"target of EGR1, exonuclease","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"28092684[PMID]","hgnc":"15954","ensembl":"ENSG00000132773","omim":"613931","loci":["1p34.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":4.0,"area":"Worldwide","status":"Validated","source":"21594990[PMID]_[EXPERT]"},{"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":"2019-07-30","source":"21594990[PMID]_11068172[PMID]_23686794[PMID]_28092684[PMID]","terms":[{"hpo":"HP:0002060","label":"Abnormal cerebral morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002500","label":"Abnormal cerebral white matter morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000062","label":"Ambiguous genitalia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000286","label":"Epicanthus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002380","label":"Fasciculations","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030197","label":"Fatigable weakness of skeletal muscles","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000218","label":"High palate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001276","label":"Hypertonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002365","label":"Hypoplasia of the brainstem","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002079","label":"Hypoplasia of the corpus callosum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000400","label":"Macrotia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006955","label":"Olivopontocerebellar hypoplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003202","label":"Skeletal muscle atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000215","label":"Thick upper lip vermilion","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000431","label":"Wide nasal bridge","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012856","label":"Abnormal scrotal rugation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030261","label":"Absent penis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000151","label":"Aplasia of the uterus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008665","label":"Clitoral hypertrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005280","label":"Depressed nasal bridge","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000133","label":"Gonadal dysgenesis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001347","label":"Hyperreflexia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004305","label":"Involuntary movements","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000054","label":"Micropenis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030260","label":"Microphallus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001336","label":"Myoclonus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000648","label":"Optic atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001257","label":"Spasticity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000582","label":"Upslanted palpebral fissure","frequency":"Occasional (29-5%)","criteria":null}]}}