Penile agenesis
Synonyms: Aphallia · Penis agenesis
- Type
- Morphological anomaly
- Group
- Disorder
- Age of onset
- Antenatal, Neonatal
- Status
- active
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.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Penile agenesis | Aphallia · Penis agenesis |
| fr | Agénésie pénienne | Agénésie du pénis · Aphallia |
| de | Penisagenesie | |
| es | Agenesia del pene | |
| it | Agenesia del pene | |
| nl | Agenesie van penis | Aphallia |
| pt | Agenesia do pénis | |
| pl | Agnezja prącia | Afalia · Agenezja penisa |
| cs | Penilní ageneze | Afálie · Ageneze penisu |
| uk | Агенезія статевого члена | Афалія · Агенезія статевого члена |
| zh | 阴茎发育不全 | 阴茎发育不全 |
| tr | Penis agenezisi | Afallia · Penis agenezisi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q55.5 | E | specific | validated |
| ICD-11 | LB50 | NTBT | specific | validated |
| MONDO | 0018846 | E | validated | |
| MeSH | C536649 | E | validated | |
| UMLS | C4551491 | E | validated | |
| GARD | 4272 | E | validated | |
| MedDRA | 10087156 | 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:9808546,XY difference of sex development
rare developmental anomalies during embryogenesis; rare urogenital diseases; rare endocrine diseases - ORPHA:182121Non-syndromic urogenital tract malformation of male
rare developmental anomalies during embryogenesis; rare urogenital diseases; rare transplant-related disorders
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 80 cases | Worldwide | Case(s) | Validated | 25786436[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_25786436[PMID] |
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
29 annotations · validated 2016-01-04| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000014 | Abnormality of the bladder | |
| HP:0030261 | Absent penis | Pathognomonic sign |
| HP:0000062 | Ambiguous genitalia | |
| HP:0002023 | Anal atresia | |
| HP:0012732 | Anorectal anomaly | |
| HP:0012584 | Bilateral renal hypoplasia | |
| HP:0012620 | Cloacal abnormality | |
| HP:0005280 | Depressed nasal bridge | |
| HP:0010945 | Fetal pyelectasis | |
| HP:0000126 | Hydronephrosis | |
| HP:0000072 | Hydroureter | |
| HP:0001562 | Oligohydramnios | |
| HP:0000358 | Posteriorly rotated ears | |
| HP:0002089 | Pulmonary hypoplasia | |
| HP:0100590 | Rectal fistula | |
| HP:0003196 | Short nose | |
| HP:0012583 | Unilateral renal hypoplasia | |
| HP:0010480 | Urethral fistula | |
| Occasional (29-5%) | ||
| HP:0001631 | Atrial septal defect | |
| HP:0006827 | Atrophy of the spinal cord | |
| HP:0005944 | Bilateral lung agenesis | |
| HP:0010958 | Bilateral renal agenesis | |
| HP:0001776 | Bilateral talipes equinovarus | |
| HP:0000028 | Cryptorchidism | |
| HP:0000800 | Cystic renal dysplasia | |
| HP:0009800 | Maternal diabetes | |
| HP:0002575 | Tracheoesophageal fistula | |
| HP:0000052 | Urethral atresia, male | |
| HP:0001629 | Ventricular septal defect | |
Run the differential on the 12 obligate / very frequent terms
Annotation source: 21204662[PMID]_26673776[PMID]_16142564[PMID]_10668164[PMID]_9120985[PMID]_10069704[PMID]_25786436[PMID]_26194292[PMID]_9120985[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/49
- This record as JSON: /data/d/49.json