ORPHA:98798
Isochromosomy Yq syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Age of onset
- Adolescent, Adult
- Status
- active
A rare sex-chromosome anomaly with a variable phenotype including a female phenotype with sexual development delay, streak gonads, short stature and Turner syndrome features, and a male phenotype with infertility due to azoospermia.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Isochromosomy Yq syndrome | |
| fr | Syndrome d'isochromosomie yp | |
| de | Isochromosom Yq | |
| es | Síndrome de isocromosoma Yq | |
| it | Sindrome isocromosomia Yq | |
| nl | Isochromosomie Yq-syndroom | |
| pt | Síndrome de isocromossoma Yq | |
| pl | Zespół izochromosomu Yq | |
| cs | Izochromozom Yq | |
| uk | Ізохромосома Yq | |
| zh | 长臂等臂Y染色体 | |
| tr | İzokromozomi Yq |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q98.6 | NTBT | attributed | validated |
| MONDO | 0020305 | E | validated | |
| UMLS | C4749291 | 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:96325Isochromosome Y syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases
No children.
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Genes
0 directOrphanet records no gene directly on this code.
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Prevalence and incidence
0 recordsNo prevalence record in this release.
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HPO phenotypes
8 annotations · validated 2015-12-16| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000027 | Azoospermia | |
| HP:0008734 | Decreased testicular size | |
| HP:0003251 | Male infertility | |
| HP:0008193 | Primary gonadal insufficiency | |
| Frequent (79-30%) | ||
| HP:0000062 | Ambiguous genitalia | |
| HP:0000771 | Gynecomastia | |
| HP:0012871 | Varicocele | |
| Occasional (29-5%) | ||
| HP:0003248 | Gonadal tissue inappropriate for external genitalia or chromosomal sex | |
Run the differential on the 4 obligate / very frequent terms
Annotation source: 3972415[PMID]_4751309[PMID]_1466561[PMID]_15150784[PMID]_6859108[PMID]_2265826[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/98798
- This record as JSON: /data/d/98798.json