ORPHA:251510
46,XY partial gonadal dysgenesis
Synonyms: 46,XY PGD · 46,XY partial testicular dysgenesis
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant, Autosomal recessive, X-linked recessive, Y-linked
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare disorder/difference of sex development (DSD) characterized by atypical gonadal development that results in genital ambiguity of variable degree ranging from almost female phenotype to almost male phenotype in a patient carrying a 46,XY karyotype.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | 46,XY partial gonadal dysgenesis | 46,XY PGD · 46,XY partial testicular dysgenesis |
| fr | Dysgénésie gonadique partielle 46,XY | Dysgénésie testiculaire partielle 46, XY |
| de | 46,XY-Gonadendysgenesie, partielle | 46,XY PGD · 46,XY partielle testikuläre Dysgenese |
| es | Disgenesia gonadal parcial 46,XY | 46,XY PGD · Disgenesia testicular parcial 46,XY · PGD 46,XY |
| it | Disgenesia gonadica parziale 46,XY | Disgenesia testicolare parziale 46,XY · PGD 46,XY |
| nl | 46,XY partiële gonadale dysgenesie | 46,XY PGD · 46,XY partiële testiculaire dysgenesie |
| pt | Disgenesia gonadal parcial 46,XY | PGD 46,XY |
| pl | Częściowa dysgenezja gonad z kariotypem 46,XY | 46,XY PGD · Częściowa dysgenezja jąder z kariotypem 46,XY |
| cs | 46,XY parciální gonadální dysgeneze | 46,XY PGD · 46,XY parciální testikulární dysgeneze |
| uk | 46,XY часткова дисгенезія гонад | 46,XY часткова дисгенезія яєчок · 46,XY PGD |
| zh | 46XY部分性性腺发育不全 | 46,XY部分性睾丸发育不全 |
| tr | 46, XY kısmi gonadal disgenezi | 46, XY PGD · 46, XY kısmi testis disgenezi |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 154230 | BTNT | validated | |
| OMIM | 300018 | BTNT | validated | |
| OMIM | 612965 | BTNT | validated | |
| OMIM | 613762 | BTNT | validated | |
| OMIM | 615542 | BTNT | validated | |
| OMIM | 616067 | BTNT | validated | |
| OMIM | 616425 | BTNT | validated | |
| ICD-10 | Q56.1 | NTBT | attributed | validated |
| ICD-11 | LD2A.1 | NTBT | index | validated |
| MONDO | 0016674 | E | validated | |
| UMLS | C4510744 | 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 (5):
- 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:98313Male infertility due to gonadal dysgenesis
rare genetic diseases; rare infertility disorders - 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
11 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] |
| GATA4 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:4173 | ENSG00000136574 | 600576 | 8p23.1 | GATA binding protein 4 | 21220346[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] |
| NR5A1 | Disease-causing germline mutation(s) in | Assessed | HGNC:7983 | ENSG00000136931 | 184757 | 9q33.3 | nuclear receptor subfamily 5 group A member 1 | 25580123[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 | 17493621[PMID] |
| WWOX | Disease-causing germline mutation(s) in | Assessed | HGNC:12799 | ENSG00000186153 | 605131 | 16q23.1-q23.2 | WW domain containing oxidoreductase | 22071891[PMID] |
| ZFPM2 | Disease-causing germline mutation(s) in | Assessed | HGNC:16700 | ENSG00000169946 | 603693 | 8q23 | zinc finger protein, FOG family member 2 | 24549039[PMID] |
| NR0B1 | Role in the phenotype of | Assessed | HGNC:7960 | ENSG00000169297 | 300473 | Xp21.2 | nuclear receptor subfamily 0 group B member 1 | 18384427[PMID] |
| VAMP7 | Role in the phenotype of | Assessed | HGNC:11486 | ENSG00000124333 | 300053 | Xq28 and Yq12 | vesicle associated membrane protein 7 | 24880616[PMID] |
5
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet validated | 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.
6
HPO phenotypes
43 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000812 | Abnormal internal genitalia | |
| HP:0012244 | Abnormal sex determination | |
| HP:0000058 | Abnormality of the labia | |
| HP:0000045 | Abnormality of the scrotum | |
| HP:0000142 | Abnormality of the vagina | |
| HP:0000062 | Ambiguous genitalia | |
| HP:0000027 | Azoospermia | |
| HP:0008665 | Clitoral hypertrophy | |
| HP:0000868 | Decreased fertility in females | |
| HP:0008214 | Decreased serum estradiol | |
| HP:0040171 | Decreased serum testosterone concentration | |
| HP:0008734 | Decreased testicular size | |
| HP:0008232 | Elevated circulating follicle stimulating hormone level | |
| HP:0011969 | Elevated circulating luteinizing hormone level | |
| HP:0008730 | Female external genitalia in individual with 46,XY karyotype | |
| HP:0000133 | Gonadal dysgenesis | |
| HP:0000771 | Gynecomastia | |
| HP:0000815 | Hypergonadotropic hypogonadism | |
| HP:0008736 | Hypoplasia of penis | |
| HP:0008726 | Hypoplasia of the vagina | |
| HP:0000047 | Hypospadias | |
| HP:0000837 | Increased circulating gonadotropin level | |
| HP:0003251 | Male infertility | |
| HP:0000054 | Micropenis | |
| HP:0000939 | Osteoporosis | |
| HP:0000786 | Primary amenorrhea | |
| HP:0002215 | Sparse axillary hair | |
| HP:0002225 | Sparse pubic hair | |
| HP:0010464 | Streak ovary | |
| HP:0100779 | Urogenital sinus anomaly | |
| HP:0012870 | Vanishing testis | |
| Frequent (79-30%) | ||
| HP:0000028 | Cryptorchidism | |
| HP:0000823 | Delayed puberty | |
| HP:0000150 | Gonadoblastoma | |
| Occasional (29-5%) | ||
| HP:0008187 | Absence of secondary sex characteristics | |
| HP:0000846 | Adrenal insufficiency | |
| HP:0002750 | Delayed skeletal maturation | |
| HP:0000149 | Ovarian gonadoblastoma | |
| HP:0008193 | Primary gonadal insufficiency | |
| HP:0000030 | Testicular gonadoblastoma | |
| Very rare (<4-1%) | ||
| HP:0030680 | Abnormal cardiovascular system morphology | |
| HP:0002667 | Nephroblastoma | |
| HP:0000100 | Nephrotic syndrome | |
Run the differential on the 12 obligate / very frequent terms
Annotation source: 25247647[PMID]_23044873[PMID]_20595937[PMID]_17973056[PMID]_16437021[PMID]_8240973[PMID]_9143505[PMID]_567843[PMID]_19246354[PMID]_10369247[PMID]_12786760[PMID]_21220346[PMID]_24549039[PMID]_22051515[PMID]
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/251510
- This record as JSON: /data/d/251510.json