XY type gonadal dysgenesis-associated anomalies syndrome
historical
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Neonatal
- Status
- historical
A rare syndrome with 46,XY difference of sex development characterized by mild developmental delay and streak gonads associated with short stature, cardiac, renal, musculoskeletal, and ectodermal abnormalities (the latter including scalp defects and unusual hair whorls), and dysmorphic facial features (such as preauricular pits, short columella, and small nares). There have been no further descriptions in the literature since 1980.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | XY type gonadal dysgenesis-associated anomalies syndrome | |
| fr | Syndrome de dysgénésie gonadique-anomalies multiples | |
| de | Syndrom der Gonadendysgenesie vom XY-Typ mit assoziierten Fehlbildungen | XY-Gonadendysgenesie mit assoziierten Anomalien |
| es | Síndrome de disgenesia gonadal tipo XY-anomalías asociadas | |
| it | Sindrome delle anomalie associate alla disgenesia gonadica tipo XY | |
| nl | Gonadale dysgenesie, XY-type - geassocieerde anomalieën-syndroom | |
| pt | Síndrome de anomalias associadas a disgenesia gonadal tipo XY | |
| pl | Dysgenezja gonad typu XY i anomalie towarzyszące | |
| cs | Syndrom zahrnující XY typ gonadální dysgeneze a související anomálie | |
| uk | Синдром аномалій, повязаних з дисгенезією гонад за типом XY | |
| zh | XY型性腺发育不良相关异常综合征 | |
| tr | XY tipi gonadal disgenezi-ilişkili anomaliler sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 618419 | E | validated | |
| ICD-10 | Q99.1 | NTBT | attributed | validated |
| MONDO | 0009302 | E | validated | |
| MeSH | C565536 | E | validated | |
| UMLS | C1856272 | E | validated | |
| GARD | 2541 | 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 (3):
- ORPHA:506213Rare disorder potentially indicated for kidney transplant
rare transplant-related disorders - ORPHA:98087Syndrome with 46,XY difference of sex development
rare developmental anomalies during embryogenesis; rare genetic diseases; rare urogenital diseases; rare endocrine diseases - ORPHA:325638Syndrome with difference of sex development of gynecological interest
rare genetic diseases; rare gynecological and obstetric diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| PPP2R3C | Disease-causing germline mutation(s) in | Assessed | HGNC:17485 | ENSG00000092020 | 615902 | 14q13.2 | protein phosphatase 2 regulatory subunit B''gamma | 34750818[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 2 cases | Worldwide | Case(s) | Validated | 6158563[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_6158563[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
26 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0010720 | Abnormal hair pattern | |
| HP:0000069 | Abnormality of the ureter | |
| HP:0000413 | Atresia of the external auditory canal | |
| HP:0007598 | Bilateral single transverse palmar creases | |
| HP:0004422 | Biparietal narrowing | |
| HP:0001156 | Brachydactyly | |
| HP:0011304 | Broad thumb | |
| HP:0002750 | Delayed skeletal maturation | |
| HP:0000133 | Gonadal dysgenesis | |
| HP:0001256 | Intellectual disability, mild | |
| HP:0001176 | Large hands | |
| HP:0011342 | Mild global developmental delay | |
| HP:0000147 | Polycystic ovaries | |
| HP:0004467 | Preauricular pit | |
| HP:0001537 | Umbilical hernia | |
| HP:0001629 | Ventricular septal defect | |
| Frequent (79-30%) | ||
| HP:0000288 | Abnormality of the philtrum | |
| HP:0000175 | Cleft palate | |
| HP:0000494 | Downslanted palpebral fissures | |
| HP:0000286 | Epicanthus | |
| HP:0008551 | Microtia | |
| HP:0100335 | Non-midline cleft of the upper lip | |
| HP:0000358 | Posteriorly rotated ears | |
| HP:0008678 | Renal hypoplasia/aplasia | |
| HP:0002000 | Short columella | |
| HP:0004322 | Short stature | |
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1770
- This record as JSON: /data/d/1770.json