{"orpha":49,"name":"Penile agenesis","type":"Morphological anomaly","group":"Disorder","status":"active","flags":[],"synonyms":["Aphallia","Penis agenesis"],"definition":"Penile agenesis is a rare urogenital tract malformation characterized by complete congenital absence of the phallus. It is usually accompanied by a well-developed scrotum and presence of a skin tag at the anal verge (with or without a urethral meatal opening within it). Often, other genitourinary (e.g. cryptorchidism, renal agenesis and dysplasia, urinary reflux, prostate agenesis) as well as non-genitourinary abnormalities (including skeletal and neural disorders, anal stenosis, imperforate anus, cardiac defects) are associated.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-49/","orphanet_url":"https://www.orpha.net/en/disease/detail/49","names":{"fr":{"name":"Agénésie pénienne","synonyms":["Agénésie du pénis","Aphallia"],"definition":"Malformation urogénitale caractérisée par l'absence congénitale complète du pénis. Elle peut s'accompagner d'un scrotum bien développé et de la présence d'une excroissance cutanée sur la marge anale (avec ou sans méat urétral). D'autres anomalies génito-urinaires (cryptorchidie, agénésie et dysplasie rénales, reflux urétéral, agénésie prostatique), et non génito-urinaires (anomalies urogénitales, une sténose anale, une excroissance anale, des malformations cardiaques) peuvent être associées."},"de":{"name":"Penisagenesie"},"es":{"name":"Agenesia del pene","definition":"La agenesia del pene, es una malformación del tracto urogenital poco frecuente caracterizada por ausencia congénita completa del falo. Por lo general, se acompaña de escroto bien desarrollado y presencia de un apéndice cutáneo en el borde anal (con o sin abertura del meato uretral en su interior). A menudo, se asocian otras anomalías tanto genitourinarias (p. ej., criptorquidia, agenesia y displasia renal, reflujo urinario, agenesia de la próstata), como no genitourinarias (que incluyen trastornos esqueléticos y neuronales, estenosis anal, ano imperforado y defectos cardíacos)."},"it":{"name":"Agenesia del pene","definition":"L'agenesia del pene è una malformazione rara dell'apparato urogenitale, consistente nella completa assenza congenita del fallo. Di solito si associa ad uno scroto normalmente sviluppato e alla presenza di un'appendice cutanea sul bordo dell'ano (con o senza meato urinario al proprio interno). Spesso sono presenti altre anomalie genito-urinarie (ad esempio criptorchidismo, agenesia e displasia renale, reflusso urinario, agenesia della prostata) e non genito-urinarie (malattie scheletriche e neurologiche, stenosi anale, ano imperforato e cardiopatie)."},"nl":{"name":"Agenesie van penis","synonyms":["Aphallia"],"definition":"Agenesie van de penis is een zeldzame malformatie van het urogenitale stelsel en wordt gekarakteriseerd door volledige congenitale afwezigheid van de penis. Het gaat meestal gepaard met een goed ontwikkeld scrotum en de aanwezigheid van een huidaanhangsel aan het distale einde van het anuskanaal (met of zonder een urethrale meatusopening erin). Vaak zijn andere genito-urinaire (e.g. cryptorchidie, agenesie en dysplasie van de nieren, urinaire reflux, agenesie van de prostaat) alsook niet-genito-urinaire (waaronder stoornissen van het skelet en het zenuwstelsel, anusstenose, anusatresie, hartdefecten) anomalieën geassocieerd."},"pt":{"name":"Agenesia do pénis"},"pl":{"name":"Agnezja prącia","synonyms":["Afalia","Agenezja penisa"],"definition":"*Agenezja prącia jest rzadką wadą rozwojową dróg moczowo-płciowych, która charakteryzuje się całkowitym wrodzonym brakiem prącia. Zwykle obserwuje się dobrze rozwiniętą mosznę i obecność wyrośla skórnego na skraju odbytu (z lub bez otworu cewki moczowej). Często towarzyszą inne nieprawidłowości układu moczowo-płciowego (np. wnętrostwo, agenezja i dysplazja nerek, refluks moczowodowy, agenezja prostaty), a także inne zaburzenia nie związane z układem moczowo-płciowym (w tym zaburzenia układu kostno-nerwowego, zwężenie odbytu, zarośnięcie odbytu, wady serca)."},"cs":{"name":"Penilní ageneze","synonyms":["Afálie","Ageneze penisu"]},"uk":{"name":"Агенезія статевого члена","synonyms":["Афалія","Агенезія статевого члена"],"definition":"Penile agenesis is a rare urogenital tract malformation characterized by complete congenital absence of the phallus. It is usually accompanied by a well-developed scrotum and presence of a skin tag at the anal verge (with or without a urethral meatal opening within it). Often, other genitourinary (e.g. cryptorchidism, renal agenesis and dysplasia, urinary reflux, prostate agenesis) as well as non-genitourinary abnormalities (including skeletal and neural disorders, anal stenosis, imperforate anus, cardiac defects) are associated."},"zh":{"name":"阴茎发育不全","synonyms":["阴茎发育不全"]},"tr":{"name":"Penis agenezisi","synonyms":["Afallia","Penis agenezisi"]}},"xrefs":[{"source":"ICD-10","code":"Q55.5","qualifier":"E","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"LB50","qualifier":"NTBT","icd_relation":"specific","validated":true,"icd11_uri":"55567069"},{"source":"MONDO","code":"0018846","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536649","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4551491","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"4272","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10087156","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":98085,"name":"46,XY difference of sex development","classifications":[147,185,193]},{"orpha":182121,"name":"Non-syndromic urogenital tract malformation of male","classifications":[147,185,233]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":80.0,"area":"Worldwide","status":"Validated","source":"25786436[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_25786436[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-01-04","source":"21204662[PMID]_26673776[PMID]_16142564[PMID]_10668164[PMID]_9120985[PMID]_10069704[PMID]_25786436[PMID]_26194292[PMID]_9120985[PMID]","terms":[{"hpo":"HP:0000014","label":"Abnormality of the bladder","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0030261","label":"Absent penis","frequency":"Very frequent (99-80%)","criteria":"Pathognomonic sign"},{"hpo":"HP:0000062","label":"Ambiguous genitalia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002023","label":"Anal atresia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012732","label":"Anorectal anomaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012584","label":"Bilateral renal hypoplasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012620","label":"Cloacal abnormality","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005280","label":"Depressed nasal bridge","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010945","label":"Fetal pyelectasis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000126","label":"Hydronephrosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000072","label":"Hydroureter","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001562","label":"Oligohydramnios","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000358","label":"Posteriorly rotated ears","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002089","label":"Pulmonary hypoplasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100590","label":"Rectal fistula","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003196","label":"Short nose","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012583","label":"Unilateral renal hypoplasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010480","label":"Urethral fistula","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001631","label":"Atrial septal defect","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006827","label":"Atrophy of the spinal cord","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005944","label":"Bilateral lung agenesis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010958","label":"Bilateral renal agenesis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001776","label":"Bilateral talipes equinovarus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000800","label":"Cystic renal dysplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009800","label":"Maternal diabetes","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002575","label":"Tracheoesophageal fistula","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000052","label":"Urethral atresia, male","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001629","label":"Ventricular septal defect","frequency":"Occasional (29-5%)","criteria":null}]}}