Hypospadias

Symptom Information:

Symptom ID: HPO:0000047
Synonyms:
Hypospadias (disorder) [Orphanet:39280]
Hypospadias, penile (disorder) [Orphanet:39280]
Hypospadias [Orphanet:39280]
Penile hypospadias [Orphanet:39280]
Hypospadias [OMIM:Hypospadias]
Hypospadias/epispadias/bent penis [Orphanet:39280]
Hypospadias [MedDRA:10021093]
Hypospadias and epispadias [MedDRA:10021093]
Hypospadias (50%) [OMIM:Hypospadias (50%)]
Hypospadias (rare) [OMIM:Hypospadias (rare)]
Hypospadias (reported in 1 patient) [OMIM:Hypospadias (reported in 1 patient)]
Hypospadias, penile [OMIM:Hypospadias, penile]
Quality:
Cross references:
Orphanet:39280 "Hypospadias/epispadias/bent penis" [Orphanet:39280]
OMIM: "Hypospadias" [OMIM:Hypospadias]
OMIM: "Hypospadias (50%)" [OMIM:Hypospadias (50%)]
OMIM: "Hypospadias (rare)" [OMIM:Hypospadias (rare)]
OMIM: "Hypospadias (reported in 1 patient)" [OMIM:Hypospadias (reported in 1 patient)]
OMIM: "Hypospadias, penile" [OMIM:Hypospadias, penile]
UMLS:C0848558 "Hypospadias" [HPO:0000047]
UMLS:C0848558 "Hypospadias" [Orphanet:39280]
UMLS:C1691215 "Penile hypospadias" [Orphanet:39280]
Is a (Direct Parents):
HPO         Displacement of the external urethral meatus
Orphanet Epispadias
MedDRA Male reproductive tract disorders congenital
Orphanet Abnormality of the penis
HPO         Scrotal hypospadias
HPO         Midshaft hypospadias
Is a (Whole tree): HPO:
All(HPO:0000001)
    Phenotypic abnormality(HPO:0000118)
       Abnormality of the genitourinary system(HPO:0000119)
          Abnormality of the urinary system(HPO:0000079)
             Abnormality of the lower urinary tract(HPO:0010936)
                Abnormality of the urethra(HPO:0000795)
                   Displacement of the external urethral meatus(HPO:0100627)
                      Hypospadias(HPO:0000047)
          Abnormality of the genital system(HPO:0000078)
             Abnormal genital system morphology(HPO:0012243)
                Abnormality of the male genitalia(HPO:0010461)
                   Abnormality of male external genitalia(HPO:0000032)
                      Abnormality of the penis(HPO:0000036)
                         Displacement of the external urethral meatus(HPO:0100627)
                            Hypospadias(HPO:0000047)
                      Abnormality of the urethra(HPO:0000795)
                         Displacement of the external urethral meatus(HPO:0100627)
                            Hypospadias(HPO:0000047)
                Abnormal external genitalia(HPO:0000811)
                   Abnormality of male external genitalia(HPO:0000032)
                      Abnormality of the penis(HPO:0000036)
                         Displacement of the external urethral meatus(HPO:0100627)
                            Hypospadias(HPO:0000047)
                      Abnormality of the urethra(HPO:0000795)
                         Displacement of the external urethral meatus(HPO:0100627)
                            Hypospadias(HPO:0000047)
MedDRA:
Congenital, familial and genetic disorders(MedDRA:10010331)
    Reproductive tract and breast disorders congenital(MedDRA:10038608)
       Male reproductive tract disorders congenital(MedDRA:10025517)
          Hypospadias(HPO:0000047)
Database Frequency: 250 / 7739
Resource:

All diseases associated with this symptom:

10q22.3q23.3 microduplication syndrome (Orphanet:276422)
15q24 microdeletion syndrome (Orphanet:94065)
16p11.2p12.2 microduplication syndrome (Orphanet:261204)
19p13.12 microdeletion syndrome (Orphanet:254346)
19q13.11 microdeletion syndrome (Orphanet:217346)
1p36 deletion syndrome (Orphanet:1606)
1q21.1 microduplication syndrome (Orphanet:250994)
1q44 microdeletion syndrome (Orphanet:238769)
22q11.2 deletion syndrome (Orphanet:567)
22q11.2 microduplication syndrome (Orphanet:1727)
3C syndrome (Orphanet:7)
3M syndrome (Orphanet:2616)
3q29 microdeletion syndrome (Orphanet:65286)
46,XX disorder of sex development - anorectal anomalies (Orphanet:2973)
46,XX ovotesticular disorder of sex development (Orphanet:2138)
46,XY SEX REVERSAL 6 (OMIM:613762)
46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency (Orphanet:753)
46,XY partial gonadal dysgenesis (Orphanet:251510)
8p23.1 microdeletion syndrome (Orphanet:251071)
ACRODYSOSTOSIS 2 WITH OR WITHOUT HORMONE RESISTANCE (OMIM:614613)
ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS (OMIM:201750)
ANUS, IMPERFORATE (OMIM:301800)
AXENFELD-RIEGER SYNDROME, TYPE 1 (OMIM:180500)
AXENFELD-RIEGER SYNDROME, TYPE 2 (OMIM:601499)
Abruzzo-Erickson syndrome (Orphanet:921)
Acro-cardio-facial syndrome (Orphanet:2008)
Acro-pectoro-renal dysplasia (Orphanet:956)
Acrocallosal syndrome (Orphanet:36)
Acrofacial dysostosis, Catania type (Orphanet:1786)
Acroosteolysis, dominant type (Orphanet:955)
Alpha-thalassemia - X-linked intellectual deficit syndrome (Orphanet:847)
Alpha-thalassemia - intellectual deficit syndrome linked to chromosome 16 (Orphanet:98791)
Ankyloblepharon - ectodermal defects - cleft lip/palate (Orphanet:1071)
Anophthalmia/microphthalmia - esophageal atresia (Orphanet:77298)
Antecubital pterygium syndrome (Orphanet:2987)
Autosomal dominant Opitz G/BBB syndrome (Orphanet:306588)
Autosomal dominant Robinow syndrome (Orphanet:3107)
Autosomal dominant omodysplasia (Orphanet:93328)
Autosomal recessive multiple pterygium syndrome (Orphanet:2990)
Autosomal recessive spondylocostal dysostosis (Orphanet:2311)
Axenfeld-Rieger syndrome (Orphanet:782)
BOWEN SYNDROME OF MULTIPLE MALFORMATIONS (OMIM:211200)
BRACHYPHALANGY, POLYDACTYLY, AND TIBIAL APLASIA/HYPOPLASIA (OMIM:609945)
Bardet-Biedl syndrome 12 (OMIM:615989)
Beckwith-Wiedemann syndrome due to CDKN1C mutation (Orphanet:231120)
Bladder exstrophy (Orphanet:93930)
Blepharophimosis-intellectual deficit syndrome, Verloes type (Orphanet:293725)
Brachydactyly - nystagmus - cerebellar ataxia (Orphanet:1246)
Branchio-oculo-facial syndrome (Orphanet:1297)
COFFIN-SIRIS SYNDROME (OMIM:135900)
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iy (OMIM:300934)
CRANIOSYNOSTOSIS-MENTAL RETARDATION SYNDROME OF LIN AND GETTIG (OMIM:218649)
CREE MENTAL RETARDATION SYNDROME (OMIM:606851)
Cabezas syndrome (Orphanet:85293)
Cantrell pentalogy (Orphanet:1335)
Carey-Fineman-Ziter syndrome (Orphanet:1358)
Carpenter-Waziri syndrome (Orphanet:93973)
Cataract - intellectual deficit - anal atresia - urinary defects (Orphanet:1381)
Cerebro-facio-articular syndrome (Orphanet:314679)
Chudley-Lowry-Hoar syndrome (Orphanet:93971)
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency (Orphanet:90794)
Cleft palate - large ears - small head (Orphanet:2013)
Coffin-Siris syndrome (Orphanet:1465)
Congenital adrenal hyperplasia (Orphanet:418)
Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency (Orphanet:90791)
Congenital lipoid adrenal hyperplasia due to STAR deficency (Orphanet:90790)
Congenital short bowel syndrome (Orphanet:2301)
Cornelia de Lange syndrome (Orphanet:199)
Craniofacial dyssynostosis (Orphanet:1516)
Craniofrontonasal dysplasia (Orphanet:1520)
Craniosynostosis - anal anomalies - porokeratosis (Orphanet:85199)
Craniosynostosis - hydrocephalus - Chiari I malformation - radioulnar synostosis (Orphanet:171839)
Cryptorchidism - arachnodactyly - intellectual deficit (Orphanet:1548)
Currarino triad (Orphanet:1552)
Cutis marmorata telangiectatica congenita (Orphanet:1556)
Cystic fibrosis - gastritis - megaloblastic anemia (Orphanet:2575)
DIAMOND-BLACKFAN ANEMIA 5 (OMIM:612528)
Deafness - genital anomalies - metacarpal and metatarsal synostosis (Orphanet:3224)
Diabetic embryopathy (Orphanet:1926)
Dilated cardiomyopathy with ataxia (Orphanet:66634)
Distal monosomy 15q (Orphanet:1596)
Distal monosomy 9p (Orphanet:1642)
Dubowitz syndrome (Orphanet:235)
Dyskeratosis congenita (Orphanet:1775)
Dysmorphism - short stature - deafness - disorder of sex development (Orphanet:2282)
ECTODERMAL DYSPLASIA, SENSORINEURAL HEARING LOSS, AND DISTINCTIVEFACIAL FEATURES (OMIM:609944)
EEC syndrome (Orphanet:1896)
Ear-patella-short stature syndrome (Orphanet:2554)
Ectodermal dysplasia, Berlin type (Orphanet:1816)
Ehlers-Danlos syndrome, vascular type (Orphanet:286)
Ellis Van Creveld syndrome (Orphanet:289)
Endocrine-cerebro-osteodysplasia syndrome (Orphanet:199332)
Epispadias (Orphanet:93928)
Familial hypospadias (Orphanet:440)
Fanconi anemia (Orphanet:84)
Fetal trimethadione syndrome (Orphanet:1913)
Floating-Harbor syndrome (Orphanet:2044)
Fraser syndrome (Orphanet:2052)
Fryns syndrome (Orphanet:2059)
Fukuda-Miyanomae-Nakata syndrome (Orphanet:2060)
Genito-palato-cardiac syndrome (Orphanet:2075)
German syndrome (Orphanet:2077)
Goldberg-Shprintzen megacolon syndrome (Orphanet:66629)
Greig cephalopolysyndactyly syndrome (Orphanet:380)
Guttmacher syndrome (Orphanet:2957)
HAJDU-CHENEY SYNDROME (OMIM:102500)
HUNTER-MACDONALD SYNDROME (OMIM:611962)
HYDROLETHALUS SYNDROME 1 (OMIM:236680)
HYPERTELORISM AND TETRALOGY OF FALLOT (OMIM:239711)
HYPOGONADISM, MALEHYPOGONADISM AND TESTICULAR ATROPHY, INCLUDED (OMIM:241100)
HYPOSPADIAS 3, AUTOSOMAL (OMIM:146450)
Hand-foot-genital syndrome (Orphanet:2438)
Harrod syndrome (Orphanet:2115)
Hartsfield-Bixler-Demyer syndrome (Orphanet:2117)
Heart defect - round face - congenital developmental delay (Orphanet:1355)
Hepatoencephalopathy due to combined oxidative phosphorylation deficiency type 1 (Orphanet:137681)
Holmes-Gang syndrome (Orphanet:93970)
Holoprosencephaly - postaxial polydactyly (Orphanet:2166)
Hoyeraal-Hreidarsson syndrome (Orphanet:3322)
Hydrolethalus (Orphanet:2189)
Hypertelorism - hypospadias - polysyndactyly syndrome (Orphanet:2211)
Hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome (Orphanet:293864)
Hypospadias - hypertelorism - coloboma and deafness (Orphanet:157788)
Hypospadias - intellectual deficit, Goldblatt type (Orphanet:2261)
Hypotonia with lactic acidemia and hyperammonemia (Orphanet:137908)
IMAGe syndrome (Orphanet:85173)
Intellectual deficit, Buenos-Aires type (Orphanet:3079)
Intellectual deficit, Wolff type (Orphanet:3080)
Intellectual deficit, X-linked - craniofacioskeletal syndrome (Orphanet:163979)
Intellectual deficit, X-linked, Wittwer type (Orphanet:85291)
Isolated ATP synthase deficiency (Orphanet:254913)
Jacobsen syndrome (Orphanet:2308)
Johanson-Blizzard syndrome (Orphanet:2315)
Juberg-Hayward syndrome (Orphanet:2319)
Juberg-Marsidi syndrome (Orphanet:93972)
Kabuki syndrome (Orphanet:2322)
Kleefstra syndrome (Orphanet:261494)
Koolen-De Vries syndrome (Orphanet:96169)
LEOPARD SYNDROME 1 (OMIM:151100)
Lacrimo-auriculo-dento-digital syndrome (Orphanet:2363)
Lambert syndrome (Orphanet:1296)
Laurence-Moon syndrome (Orphanet:2377)
Lenz-Majewski hyperostotic dwarfism (Orphanet:2658)
Lethal hemolytic anemia - genital anomalies (Orphanet:1046)
Lethal restrictive dermopathy (Orphanet:1662)
Leukoencephalopathy - thalamus and brainstem anomalies - high lactate (Orphanet:314051)
Lower limb deficiency - hypospadias (Orphanet:2487)
Lowry-MacLean syndrome (Orphanet:2409)
MENTAL RETARDATION, AUTOSOMAL DOMINANT 23 (OMIM:615761)
MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE III (OMIM:210730)
MICROPHTHALMIA, SYNDROMIC 1 (OMIM:309800)
MICROPHTHALMIA, SYNDROMIC 14 (OMIM:615877)
MICROPHTHALMIA, SYNDROMIC 7 (OMIM:309801)
MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 1 (OMIM:604273)
MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1 (OMIM:257300)
MOVED TO 614732 (OMIM:300290)
Marden-Walker syndrome (Orphanet:2461)
McKusick-Kaufman syndrome (Orphanet:2473)
Methimazole embryofetopathy (Orphanet:1923)
Micrencephaly - corpus callosum agenesis - abnormal genitalia (Orphanet:2508)
Microcephalic osteodysplastic primordial dwarfism type 2 (Orphanet:2637)
Microcephaly - cervical spine fusion anomalies (Orphanet:2522)
Microphthalmia with brain and digit anomalies (Orphanet:139471)
Microphthalmia with linear skin defects syndrome (Orphanet:2556)
Microphthalmia, Lenz type (Orphanet:568)
Mikati-Najjar-Sahli syndrome (Orphanet:2558)
Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies (Orphanet:369897)
Mitochondrial encephalo-cardio-myopathy due to TMEM70 deficiency (Orphanet:1194)
Monosomy 18q (Orphanet:1600)
Monosomy 5p (Orphanet:281)
Monosomy 9p (Orphanet:261112)
Mosaic trisomy 14 (Orphanet:1703)
Mosaic variegated aneuploidy syndrome (Orphanet:1052)
Mowat-Wilson syndrome (Orphanet:2152)
Multiple benign circumferential skin creases on limbs (Orphanet:2505)
Myhre syndrome (Orphanet:2588)
Myopathy - growth delay - intellectual deficit - hypospadias (Orphanet:2601)
N syndrome (Orphanet:2608)
Noonan syndrome with multiple lentigines (Orphanet:500)
OPITZ-KAVEGGIA SYNDROME (OMIM:305450)
Oculofaciocardiodental syndrome (Orphanet:2712)
Omodysplasia (Orphanet:2733)
Opitz G/BBB syndrome (Orphanet:2745)
Osteocraniostenosis (Orphanet:2763)
Osteoglophonic dwarfism (Orphanet:2645)
Otopalatodigital syndrome (Orphanet:669)
Otopalatodigital syndrome type 2 (Orphanet:90652)
PELVIS syndrome (Orphanet:83628)
PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER) (OMIM:214100)
Partial androgen insensitivity syndrome (Orphanet:90797)
Penoscrotal transposition (Orphanet:2842)
Peters-plus syndrome (Orphanet:709)
Phocomelia, Schinzel type (Orphanet:2879)
Primordial short stature - microdontia - opalescent and rootless teeth (Orphanet:46658)
Progeria - short stature - pigmented nevi (Orphanet:2959)
RAPP-HODGKIN SYNDROME (OMIM:129400)
ROBERTS SYNDROME (OMIM:268300)
Radial hypoplasia - triphalangeal thumbs - hypospadias - maxillary diastema (Orphanet:2252)
Radius absent - anogenital anomalies (Orphanet:3016)
Renal cysts and diabetes syndrome (Orphanet:93111)
Renier-Gabreels-Jasper syndrome (Orphanet:93975)
Renpenning syndrome (Orphanet:3242)
Roberts syndrome (Orphanet:3103)
Rubinstein-Taybi syndrome due to CREBBP mutations (Orphanet:353277)
SCARF syndrome (Orphanet:3134)
SECKEL SYNDROME 1 (OMIM:210600)
SECKEL SYNDROME 2 (OMIM:606744)
SILVER-RUSSELL SYNDROME (OMIM:180860)
Schilbach-Rott syndrome (Orphanet:2353)
Schinzel-Giedion syndrome (Orphanet:798)
Seckel syndrome (Orphanet:808)
Short rib-polydactyly syndrome (Orphanet:1505)
Short rib-polydactyly syndrome, Verma-Naumoff type (Orphanet:93271)
Short stature - craniofacial anomalies - genital hypoplasia (Orphanet:2994)
Short stature - wormian bones - dextrocardia (Orphanet:2863)
Short-rib thoracic dysplasia 7 with or without polydactyly (OMIM:614091)
Silver-Russell syndrome (Orphanet:813)
Simpson-Golabi-Behmel syndrome (Orphanet:373)
Smith-Fineman-Myers syndrome (Orphanet:93974)
Smith-Lemli-Opitz syndrome (Orphanet:818)
Sotos syndrome (Orphanet:821)
Spina bifida - hypospadias (Orphanet:3176)
THREE M SYNDROME 1 (OMIM:273750)
Telecanthus - hypertelorism - strabismus - pes cavus (Orphanet:3293)
Tetrasomy 12p (Orphanet:884)
Toriello-Carey syndrome (Orphanet:3338)
Toriello-Lacassie-Droste syndrome (Orphanet:3339)
Townes-Brocks syndrome (Orphanet:857)
Tracheo-esophageal fistula - hypospadias (Orphanet:2042)
Tricho-retino-dento-digital syndrome (Orphanet:1264)
Triploidy (Orphanet:3376)
Trisomy 13 (Orphanet:3378)
Trisomy 20p (Orphanet:261318)
Trisomy 4p (Orphanet:1738)
Trisomy 8q (Orphanet:1752)
VACTERL/VATER association (Orphanet:887)
VAN MALDERGEM SYNDROME 1 (OMIM:601390)
VAN MALDERGEM SYNDROME 2 (OMIM:615546)
Van Regemorter-Pierquin-Vamos syndrome (Orphanet:3419)
Vici syndrome (Orphanet:1493)
W syndrome (Orphanet:2804)
WAGR syndrome (Orphanet:893)
WILMS TUMOR, ANIRIDIA, GENITOURINARY ANOMALIES, AND MENTAL RETARDATIONSYNDROME (OMIM:194072)
Wiedemann-Rautenstrauch syndrome (Orphanet:3455)
Wolf-Hirschhorn syndrome (Orphanet:280)
X-linked Opitz G/BBB syndrome (Orphanet:306597)
X-linked distal arthrogryposis multiplex congenita (Orphanet:1145)
X-linked intellectual deficit - hypotonic face (Orphanet:73220)
Yunis-Varon syndrome (Orphanet:3472)
Zellweger syndrome (Orphanet:912)