Non-syndromic posterior hypospadias
Synonyms: Hypospadias, severe form · Perineal, scrotal or penoscrotal hypospadias
- Type
- Morphological anomaly
- Group
- Disorder
- Inheritance
- Multigenic/multifactorial, X-linked recessive
- Age of onset
- Antenatal, Neonatal
- Status
- active
A rare, non-syndromic, congenital, urogenital tract malformation affecting males and characterized by penoscrotal, scrotal or perineal displacement of the urethral meatus, and commonly associated with curvation of the penis. The scrotum might appear bifid in severe cases, and the boy can also have a micropenis.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Non-syndromic posterior hypospadias | Hypospadias, severe form · Perineal, scrotal or penoscrotal hypospadias |
| fr | Hypospadias postérieur non syndromique | Hypospadias périnéal, scrotal ou pénoscrotal · Hypospadias, forme sévère |
| de | Hypospadie, posteriore, nicht-syndromale | Hypospadie, schwere Form · Perineale, skrotale oder penoskrotale Hypospadie |
| es | Hipospadias posteriores | Hipospadias perineal, escrotal o penoescrotal · Hipospadias, forma grave |
| it | Ipospadia posteriore | Ipospadia perineale, scrotale o penoscrotale |
| nl | Posterieure hypospadie | Hypospadie, ernstige vorm · Perineale, scrotale of penoscrotale hypospadie |
| pt | Hipospadias, formas graves | |
| pl | Spodziectwo tylne | Spodziectwo kroczowe, mosznowe lub prąciowo-mosznowe |
| cs | Zadní hypospadie | Perineální, skrotální nebo penoskrotální hypospadie |
| uk | Несиндромні задні гіпоспадії | Гіпоспадія, важка форма · Гіпоспадія промежини, мошонки або піноскротальна гіпоспадія |
| zh | 后尿道下裂 | 会阴、阴囊或阴茎阴囊尿道下裂 |
| tr | Posterior hipospadias | Perineal, skrotal veya penoskrotal hipospadias |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 146450 | BTNT | validated | |
| OMIM | 300633 | BTNT | validated | |
| OMIM | 300758 | BTNT | validated | |
| OMIM | 300856 | BTNT | validated | |
| ICD-10 | Q54.2 | BTNT | specific | validated |
| ICD-10 | Q54.3 | BTNT | specific | validated |
| ICD-11 | LB53.2 | BTNT | specific | validated |
| ICD-11 | LB53.3 | BTNT | specific | validated |
| ICD-11 | LB53.4 | BTNT | specific | validated |
| MONDO | 0019848 | E | validated | |
| UMLS | C5231010 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:156622Genetic urogenital tract malformation
rare genetic diseases - ORPHA:182121Non-syndromic urogenital tract malformation of male
rare developmental anomalies during embryogenesis; rare urogenital diseases; rare transplant-related disorders
No children.
Codes that Orphanet moved or referred to this one:
- ORPHA:440OBSOLETE: Familial hypospadias referred to · inactive
Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| AR | Candidate gene tested in | Not yet assessed | HGNC:644 | ENSG00000169083 | 313700 | Xq12 | androgen receptor | 24722170[PMID] |
| MAMLD1 | Disease-causing germline mutation(s) in | Assessed | HGNC:2568 | ENSG00000013619 | 300120 | Xq28 | mastermind like domain containing 1 | 17086185[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Prevalence at birth | 1-5 / 10 000 | 19.25 / 100 000 | Europe | Value and class | Validated | 25712311[PMID]_26810252[PMID] |
| Point prevalence | Unknown | — | Europe | Class only | Validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
16 annotations · validated 2021-03-03| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0100627 | Displacement of the urethral meatus | |
| Frequent (79-30%) | ||
| HP:0000028 | Cryptorchidism | |
| HP:0012435 | Ventral shortening of foreskin | |
| Occasional (29-5%) | ||
| HP:0000818 | Abnormality of the endocrine system | |
| HP:0002023 | Anal atresia | |
| HP:0008226 | Androgen insufficiency | |
| HP:0000739 | Anxiety | |
| HP:0000048 | Bifid scrotum | |
| HP:0000175 | Cleft palate | |
| HP:0000776 | Congenital diaphragmatic hernia | |
| HP:0000716 | Depression | |
| HP:0002032 | Esophageal atresia | |
| HP:0000054 | Micropenis | |
| HP:0001539 | Omphalocele | |
| Very rare (<4-1%) | ||
| HP:0001518 | Small for gestational age | |
| HP:0008722 | Urethral diverticulum | |
Run the differential on the 1 obligate / very frequent terms
Annotation source: 8097257[PMID]_28081624[PMID]_29165774[PMID]_30251425[PMID]_20920735[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/95706
- This record as JSON: /data/d/95706.json