ORPHA:443087
46,XY difference of sex development due to testicular 17,20-desmolase deficiency
Synonyms: 46,XY disorder of sex development due to testicular 17,20-desmolase deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Neonatal
- Status
- active
Orphadata ships no English definition for this code.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | 46,XY difference of sex development due to testicular 17,20-desmolase deficiency | 46,XY disorder of sex development due to testicular 17,20-desmolase deficiency |
| fr | Différence du développement sexuel 46,XY par déficit en 17,20-desmolase testiculaire | Anomalie du développement sexuel 46,XY par déficit en 17,20-desmolase testiculaire |
| de | Störung der Geschlechtsentwicklung 46,XY, durch testikulären 17,20-Desmolase-Mangel | |
| es | Desarrollo sexual diferente 46,XY por deficiencia testicular de 17,20-desmolasa | DSD 46,XY por deficiencia testicular de 17,20-desmolasa · Trastorno del desarrollo sexual 46,XY por deficiencia testicular de 17,20-desmolasa |
| it | Disturbo 46,XY dello sviluppo sessuale da deficit testicolare di 17,20-desmolasi | |
| nl | 46,XY-geslachtsontwikkelingsstoornis door testiculaire deficiëntie van 17,20-desmolase | |
| pt | Doença do desenvolvimento sexual 46,XY devida a deficiência da enzima 17,20-desmolase testicular | |
| pl | Zaburzenie róznicowania płci z kariotypem 46,XY z powodu niedoboru 17,20-desmolazy jądrowej | = en |
| cs | 46,XY porucha pohlavního vývoje způsobená deficitem testikulární 17,20-desmolázy | = en |
| uk | 46,XY порушення статевої диференціації, зумовлене дефіцитом 17,20-десмолази яєчок | 46,XY порушення статевого розвитку внаслідок дефіциту 17,20-десмолази яєчок |
| zh | 睾丸17,20-碳链裂解酶缺乏所致的46,XY 性发育障碍 | |
| tr | 46, testis 17,20-desmolaz eksikliğine bağlı cinsiyet gelişiminde XY bozukluğu |
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 614279 | E | validated | |
| ICD-10 | E29.1 | NTBT | attributed | validated |
| MONDO | 0013664 | E | validated | |
| UMLS | C0342473 | 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 (1):
- ORPHA:44309046,XY difference of sexual development due to dihydrotestosterone backdoor pathway biosynthesis defect
rare developmental anomalies during embryogenesis; rare genetic diseases; rare urogenital diseases; rare endocrine diseases; rare transplant-related disorders
No children.
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Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| AKR1C2 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:385 | ENSG00000151632 | 600450 | 10p15.1 | aldo-keto reductase family 1 member C2 | 21802064[PMID] |
| AKR1C4 | Modifying germline mutation in | Assessed | HGNC:387 | ENSG00000198610 | 600451 | 10p15.1 | aldo-keto reductase family 1 member C4 | 21802064[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 2 families | Worldwide | Family(ies) | Validated | 21802064[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_21802064[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.
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HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/443087
- This record as JSON: /data/d/443087.json