ORPHA:2138
46,XX ovotesticular difference of sex development
Synonyms: 46,XX ovotesticular DSD · 46,XX ovotesticular disorder of sex development
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant, Autosomal recessive
- Age of onset
- Adolescent, Antenatal, Neonatal
- Status
- active
A rare difference of sex development (DSD) characterized by histologically confirmed testicular and ovarian tissue in an individual with a 46,XX karyotype.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | 46,XX ovotesticular difference of sex development | 46,XX ovotesticular DSD · 46,XX ovotesticular disorder of sex development |
| fr | Différence ovotesticulaire du développement sexuel 46,XX | ADS ovotesticulaire 46,XX · Anomalie ovotesticulaire du développement sexuel 46,XX · DSD 46,XX ovotesticulaire |
| de | Störung der Geschlechtsentwicklung 46,XX, ovotestikuläre | 46,XX-DSD, ovotestikuläre |
| es | Desarrollo sexual diferente 46,XX ovotesticular | DSD 46,XX ovotesticular · Trastorno del desarrollo sexual 46,XX ovotesticular |
| it | Disturbo ovotesticolare dello sviluppo sessuale 46,XX | DSD ovotesticolare 46,XX · Ermafroditismo vero |
| nl | 46,XX ovotesticulaire geslachtsontwikkelingsstoornis | 46,XX ovotesticulaire DSD |
| pt | Doença do desenvolvimento sexual 46,XX ovotesticular | Hermafroditismo verdadeiro |
| pl | Jajnikowo-jądrowe zaburzenie różnicowania płci z kariotypem 46,XX | 46,XX jajnikowo-jądrowe ZRP · Hermafrodytyzm prawdziwy |
| cs | 46,XX ovotestikulární poruchy sexuálního vývoje | 46, XX ovotestikulární DSD · Pravý hermafroditismus |
| uk | 46,XX овотестикулярне порушення статевої диференціації | 46,XX овотестикулярний розлад статевого розвитку · 46,XX овотестикулярна DSD |
| zh | 46,XX 卵睾两性畸形 | 46,XX卵睾型DSD |
| tr | 46, XX ovotestiküler cinsiyet gelişim bozukluğu | 46, XX ovotestiküler DSD |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 400045 | NTBT | validated | |
| OMIM | 617480 | BTNT | validated | |
| OMIM | 618901 | BTNT | validated | |
| ICD-10 | Q56.0 | NTBT | attributed | validated |
| ICD-11 | LD2A.Y | NTBT | index | validated |
| MONDO | 0016281 | E | validated | |
| MeSH | D050090 | E | validated | |
| UMLS | C5679613 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (4):
- ORPHA:32505546,XX disorder of gonadal development
rare developmental anomalies during embryogenesis; rare genetic diseases; rare urogenital diseases; rare endocrine diseases - ORPHA:98074Gonadal dysgenesis of gynecological interest
rare genetic diseases; rare gynecological and obstetric diseases - ORPHA:506213Rare disorder potentially indicated for kidney transplant
rare transplant-related disorders - ORPHA:399877Rare female infertility due to gonadal dysgenesis
rare genetic diseases; rare infertility disorders
No children.
4
Genes
3 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| NR5A1 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:7983 | ENSG00000136931 | 184757 | 9q33.3 | nuclear receptor subfamily 5 group A member 1 | 27490115[PMID] |
| SOX9 | Disease-causing germline mutation(s) in | Assessed | HGNC:11204 | ENSG00000125398 | 608160 | 17q24.3 | SRY-box transcription factor 9 | 22051515[PMID] |
| SRY | Disease-causing germline mutation(s) in | Assessed | HGNC:11311 | ENSG00000184895 | 480000 | Yp11.2 | sex determining region Y | 1740318[PMID]_11912443[PMID] |
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Prevalence and incidence
3 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 500 cases | Worldwide | Case(s) | Validated | [EXPERT]_23926413[PMID] | |
| Prevalence at birth | 1-9 / 100 000 | 2.5 / 100 000 | Worldwide | Value and class | Validated | [EXPERT] |
| Point prevalence | 1-9 / 100 000 | — | Europe | Class only | Validated | ORPHANET_[EXPERT] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
14 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000008 | Abnormal morphology of female internal genitalia | |
| HP:0012856 | Abnormal scrotal rugation | |
| HP:0000022 | Abnormality of male internal genitalia | |
| HP:0000130 | Abnormality of the uterus | |
| HP:0000062 | Ambiguous genitalia | |
| HP:0000048 | Bifid scrotum | |
| HP:0000028 | Cryptorchidism | |
| HP:0000144 | Decreased fertility | |
| HP:0008736 | Hypoplasia of penis | |
| HP:0000047 | Hypospadias | |
| HP:0000147 | Polycystic ovaries | |
| HP:0000046 | Small scrotum | |
| HP:0010459 | True hermaphroditism | |
| HP:0100779 | Urogenital sinus anomaly | |
Run the differential on the 12 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2138
- This record as JSON: /data/d/2138.json