Isolated splenogonadal fusion
Synonyms: SGF
- Type
- Morphological anomaly
- Group
- Disorder
- Inheritance
- No data available
- Age of onset
- Antenatal, Neonatal
- Status
- active
A rare, non-syndromic visceral malformation characterized by an abnormal, continuous or discontinuous attachment of the spleen to the gonad, epididymis or vas. Continuous type has a direct connection between spleen and the gonad, whereas discontinuous type indicates gonadal tissue fused with an accessory spleen or ectopic spleen tissue without connection to the principal spleen. Males typically present with a scrotal mass or as an incidental finding during the management of cryptorchidism, testicular tumors or inguinal hernia. In females this is usually an incidental finding during laparotomy.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Isolated splenogonadal fusion | SGF |
| fr | Fusion splénogonadique isolée | = en |
| de | Splenogonadale Fusion, isolierte | = en |
| es | Fusión esplenogonadal aislada | = en |
| it | Fusione splenogonadica isolata | |
| nl | Geïsoleerde splenogonadale fusie | = en |
| pt | Fusão esplenogonadal isolada | |
| pl | Izolowane połączenie śledzionowo-mosznowe | = en |
| cs | Izolovaná splenogonadální fúze | = en |
| uk | Ізольоване спленогонадальне зєднання | = en |
| zh | 单发脾生殖腺融合 | = en |
| tr | İzole splenogonadal füzyon | = en |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q89.0 | NTBT | attributed | validated |
| MONDO | 0018703 | E | validated | |
| UMLS | C0266636 | 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 (1):
- ORPHA:108971Non-syndromic visceral malformation of the liver, biliary tract, pancreas or spleen
rare developmental anomalies during embryogenesis; rare abdominal surgical 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 | 145 cases | Worldwide | Case(s) | Validated | 15349548[PMID] | |
| Point prevalence | Unknown | — | Worldwide | Class only | Validated | ORPHANET_15349548[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
13 annotations · validated 2021-05-26| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000045 | Abnormality of the scrotum | |
| Frequent (79-30%) | ||
| HP:0032404 | Testicular mass | |
| HP:0012741 | Unilateral cryptorchidism | |
| Occasional (29-5%) | ||
| HP:0009714 | Abnormality of the epididymis | |
| HP:0008689 | Bilateral cryptorchidism | |
| HP:0010452 | Ectopia of the spleen | |
| HP:0000034 | Hydrocele testis | |
| HP:0000023 | Inguinal hernia | |
| HP:0001748 | Polysplenia | |
| Very rare (<4-1%) | ||
| HP:0000036 | Abnormality of the penis | |
| Excluded (0%) | ||
| HP:0045040 | Abnormal lactate dehydrogenase activity | |
| HP:0006254 | Elevated alpha-fetoprotein | |
| HP:0000837 | Increased circulating gonadotropin level | |
Run the differential on the 1 obligate / very frequent terms
Annotation source: 26952691[PMID]_18971159[PMID]_32063996[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/457083
- This record as JSON: /data/d/457083.json