Ring chromosome Y syndrome
Synonyms: Ring chromosome Y · r(Y)
- Type
- Malformation syndrome
- Group
- Disorder
- Age of onset
- Neonatal
- Status
- active
A rare chromosome Y structural anomaly, with a highly variable phenotype, mostly characterized by short stature, partial to total gonadal failure, sexual infantilism, genital anomalies (e.g. ambiguous genitalia, hypospadias, cryptorchidism), and azoospermia or oligozoospermia. Additional reported features include speech delay, obesity, and acanthosis nigricans. Gender dysphoria and comorbid bipolar disorder have also been observed.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Ring chromosome Y syndrome | Ring chromosome Y · r(Y) |
| fr | Syndrome du chromosome Y en anneau | Chromosome Y en anneau · r(Y) |
| de | Ringchromosom-Y-Syndrom | Ringchromosom Y · r(Y) |
| es | Síndrome del cromosoma Y en anillo | Cromosoma Y en anillo · r(Y) |
| it | Cromosoma Y ad anello | r(Y) |
| nl | Ringchromosoom Y-syndroom | Ringchromosoom Y · r(Y) |
| pt | Síndrome de cromossoma Y em anel | |
| pl | Chromosom pierścieniowy Y | r(Y) |
| cs | Ring chromozom Y | r(Y) |
| uk | Синдром кільцевої хромосоми Y | r(Y) · Кільцева хромосома Y |
| zh | 环状Y染色体综合征 | 环状Y染色体 |
| tr | Halka Y kromozom sendromu | r (Y) · Halka kromozomu Y |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q98.6 | NTBT | attributed | validated |
| ICD-11 | LD53 | NTBT | index | validated |
| MONDO | 0016853 | E | validated | |
| UMLS | C4706450 | 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 (1):
- ORPHA:98158Chromosome Y structural anomaly syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
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.
HPO phenotypes
22 annotations · validated 2015-11-16| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0008669 | Abnormal spermatogenesis | |
| HP:0000027 | Azoospermia | |
| HP:0000028 | Cryptorchidism | |
| HP:0008222 | Female infertility | |
| HP:0000026 | Male hypogonadism | |
| HP:0003251 | Male infertility | |
| Frequent (79-30%) | ||
| HP:0010460 | Abnormality of the female genitalia | |
| HP:0010461 | Abnormality of the male genitalia | |
| HP:0000062 | Ambiguous genitalia | |
| HP:0000061 | Ambiguous genitalia, female | |
| HP:0000033 | Ambiguous genitalia, male | |
| HP:0000133 | Gonadal dysgenesis | |
| HP:0000047 | Hypospadias | |
| HP:0004322 | Short stature | |
| HP:0012741 | Unilateral cryptorchidism | |
| HP:0100779 | Urogenital sinus anomaly | |
| Occasional (29-5%) | ||
| HP:0000048 | Bifid scrotum | |
| HP:0000150 | Gonadoblastoma | |
| HP:0000771 | Gynecomastia | |
| HP:0001513 | Obesity | |
| HP:0000051 | Perineal hypospadias | |
| HP:0010464 | Streak ovary | |
Run the differential on the 6 obligate / very frequent terms
Annotation source: 18555994[PMID]_25381945[PMID]_965013[PMID]_649173[PMID]_16359976[PMID]_24052714[PMID]_10424817[PMID]_16359976[PMID]_ISBN-13: 978-3110116076[OTHER]_24052714[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/261529
- This record as JSON: /data/d/261529.json