ORPHA:242
46,XY complete gonadal dysgenesis
Synonyms: 46,XY CGD · 46,XY pure gonadal dysgenesis · Swyer syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant, Autosomal recessive, X-linked recessive, Y-linked
- Age of onset
- Adolescent, Adult
- Status
- active
A rare disorder/difference of sex development (DSD) associated with absence in gonadal development that results in the presence of female appearing external and internal genitalia in presence of a 46,XY karyotype.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | 46,XY complete gonadal dysgenesis | 46,XY CGD · 46,XY pure gonadal dysgenesis · Swyer syndrome |
| fr | Dysgénésie gonadique complète 46,XY | Dysgénésie gonadique pure 46,XY · Syndrome de Swyer |
| de | 46,XY-Gonadendysgenesie, vollständige | 46,XY reine Gonadendysgenesie · 46,XY-CGD · Swyer-Syndrom |
| es | Disgenesia gonadal completa 46,XY | CGD 46,XY · Disgenesia gonadal pura 46,XY · Síndrome de Swyer |
| it | Disgenesia gonadica completa 46,XY | CGD 46,XY · Disgenesia gonadica pura 46,XY · PGD 46,XY · Sindrome di Swyer |
| nl | 46,XY totale gonadale dysgenesie | 46,XY CGD · 46,XY zuivere gonadale dysgenesie · Syndroom van Swyer |
| pt | Disgenesia gonadal completa 46,XY | CGD 46,XY |
| pl | Całkowita dysgenezja gonad 46,XY | 46,XY CGD · 46,XY czysta dysgenezja gonad · Zespół Swyera |
| cs | 46,XY kompletní gonadální dysgeneze | 46,XY CGD · 46,XY syndrom čisté gonadální dysgeneze · Swyerův syndrom |
| uk | 46,XY повна дисгенезія гонад | 46,XY CGD · 46,XY чиста дисгенезія гонад · Синдром Свейєра |
| zh | 46，XY完全性腺发育不全 | 46,XY单纯性性腺发育不全 |
| tr | 46, XY tam gonadal disgenezi | 46, XY CGD · Swyer sendromu · 46, XY saf gonadal disgenezi |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 154230 | BTNT | validated | |
| OMIM | 233420 | BTNT | validated | |
| OMIM | 300018 | BTNT | validated | |
| OMIM | 400044 | E | validated | |
| OMIM | 612965 | BTNT | validated | |
| OMIM | 613080 | BTNT | validated | |
| OMIM | 613762 | BTNT | validated | |
| OMIM | 616425 | BTNT | validated | |
| ICD-10 | Q99.1 | NTBT | inclusion | validated |
| ICD-11 | LD2A.1 | NTBT | index | validated |
| MONDO | 0010765 | E | validated | |
| UMLS | C2936694 | E | validated | |
| GARD | 5068 | E | validated | |
| MedDRA | 10084327 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (3):
- ORPHA:32511846,XY 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
No children.
4
Genes
10 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| WT1 | Candidate gene tested in | Not yet assessed | HGNC:12796 | ENSG00000184937 | 607102 | 11p13 | WT1 transcription factor | 25613702[PMID]_21384108[PMID]_21314844[PMID] |
| CBX2 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:1552 | ENSG00000173894 | 602770 | 17q25.3 | chromobox 2 | 19361780[PMID] |
| SRY | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:11311 | ENSG00000184895 | 480000 | Yp11.2 | sex determining region Y | 20301714[PMID] |
| DHH | Disease-causing germline mutation(s) in | Assessed | HGNC:2865 | ENSG00000139549 | 605423 | 12q13.12 | desert hedgehog signaling molecule | 20301714[PMID] |
| DHX37 | Disease-causing germline mutation(s) in | Assessed | HGNC:17210 | ENSG00000150990 | 617362 | 12q24.31 | DEAH-box helicase 37 | 31337883[PMID] |
| MAP3K1 | Disease-causing germline mutation(s) in | Assessed | HGNC:6848 | ENSG00000095015 | 600982 | 5q11.2 | mitogen-activated protein kinase kinase kinase 1 | 21129722[PMID] |
| NR0B1 | Disease-causing germline mutation(s) in | Assessed | HGNC:7960 | ENSG00000169297 | 300473 | Xp21.2 | nuclear receptor subfamily 0 group B member 1 | 30879272[PMID] |
| NR5A1 | Disease-causing germline mutation(s) in | Assessed | HGNC:7983 | ENSG00000136931 | 184757 | 9q33.3 | nuclear receptor subfamily 5 group A member 1 | 20301714[PMID] |
| SOX9 | Disease-causing germline mutation(s) in | Assessed | HGNC:11204 | ENSG00000125398 | 608160 | 17q24.3 | SRY-box transcription factor 9 | 22051515[PMID] |
| DMRT1 | Role in the phenotype of | Assessed | HGNC:2934 | ENSG00000137090 | 602424 | 9p24.3 | doublesex and mab-3 related transcription factor 1 | 20685758[PMID] |
5
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Validated | 18410658[PMID]_27603905[PMID]_ORPHANET |
| Prevalence at birth | Unknown | — | Worldwide | Class only | Validated | 18410658[PMID]_27603905[PMID]_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.
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HPO phenotypes
4 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000044 | Hypogonadotropic hypogonadism | |
| HP:0000037 | Male pseudohermaphroditism | |
| HP:0000147 | Polycystic ovaries | |
| HP:0008715 | Testicular dysgenesis | |
Run the differential on the 4 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/242
- This record as JSON: /data/d/242.json