ORPHA:1646
Chromosome Y microdeletion syndrome
Synonyms: Male infertility due to chromosome Y microdeletion · Microdeletion of the AZF region on the Y chromosome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Not applicable, Y-linked
- Age of onset
- Adult
- Status
- active
A genetic male infertility characterized by azoospermia or oligozoospermia due to chromosome Y microdeletion.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Chromosome Y microdeletion syndrome | Male infertility due to chromosome Y microdeletion · Microdeletion of the AZF region on the Y chromosome |
| fr | Syndrome de microdélétion du chromosome y | Microdélétion de la région AZF du chromosome Y · Stérilité masculine par microdélétion du chromosome Y |
| de | Chromosom Y-Mikrodeletion | Mikrodeletion der AZF-Region des Y-Chromosoms · Männliche Sterilität durch Chromosom Y-Mikrodeletion |
| es | Síndrome de microdeleción del cromosoma Y | Infertilidad masculina por microdeleción del cromosoma Y · Microdeleción de la región AZF del cromosoma Y |
| it | Microdelezione parziale del cromosoma Y | Sterilità maschile da delezione del cromosoma Y · Microdelezione della regione AZF sul cromosoma Y · Sterilità maschile da delezione del cromosoma Y · MIcrodelezione della regione AZF sul cromosoma Y · Sterilità maschile da microdelezione del cromosoma Y |
| nl | Chromosoom Y-microdeletiesyndroom | Mannelijke onvruchtbaarheid door chromosoom Y-microdeletie · Microdeletie van de AZF-regio van Y-chromosoom |
| pt | Síndrome de microdeleção do cromossoma Y | Esterilidade masculina por microdeleção do cromossoma Y · Microdeleção da região AZF do cromossoma Y |
| pl | Zespół mikrodelecji chromosomu Y | Męska bezpłodność spowodowana delecją chromosomu Y · Mikrodelecja chromosomu Y |
| cs | Částečná delece chromozomu Y | Mužská sterilita způsobená delecí chromozomu Y |
| uk | Мікроделеція хромосоми Y | Чоловіче безпліддя внаслідок мікроделеції хромосоми Y · Мікроделеція ділянки AZF на Y-хромосомі |
| zh | 部分Y染色体缺失 | Y染色体缺失所致男性不育症 |
| tr | Y kromozomu kısmi delesyonu | Y kromozomunun delesyonuna bağlı erkek kısırlığı |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 400042 | BTNT | validated | |
| OMIM | 415000 | BTNT | validated | |
| ICD-10 | Q98.6 | NTBT | attributed | validated |
| ICD-11 | 5A81.1 | NTBT | index | validated |
| MONDO | 0015607 | E | validated | |
| MeSH | C536297 | E | validated | |
| UMLS | C5924994 | 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 (2):
- ORPHA:98158Chromosome Y structural anomaly syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases - ORPHA:399775Male infertility with spermatogenesis disorder
rare genetic diseases; rare infertility disorders
No children.
4
Genes
9 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| DAZ1 | Candidate gene tested in | Not yet assessed | HGNC:2682 | ENSG00000188120 | 400003 | Yq11.223 | deleted in azoospermia 1 | 20671934[PMID]_11870237[PMID] |
| DAZ2 | Candidate gene tested in | Not yet assessed | HGNC:15964 | ENSG00000205944 | 400026 | Yq11.223 | deleted in azoospermia 2 | 20671934[PMID]_11870237[PMID] |
| DAZ3 | Candidate gene tested in | Not yet assessed | HGNC:15965 | ENSG00000187191 | 400027 | Yq11.23 | deleted in azoospermia 3 | 20671934[PMID]_14639527[PMID] |
| DAZ4 | Candidate gene tested in | Not yet assessed | HGNC:15966 | ENSG00000205916 | 400048 | Yq11.23 | deleted in azoospermia 4 | 20671934[PMID]_14639527[PMID] |
| DDX3Y | Candidate gene tested in | Not yet assessed | HGNC:2699 | ENSG00000067048 | 400010 | Yq11.221 | DEAD-box helicase 3 Y-linked | 22537385[PMID]_10767340[PMID]_20671934[PMID]_20301513[PMID] |
| RBMY1A1 | Candidate gene tested in | Not yet assessed | HGNC:9912 | ENSG00000234414 | 400006 | Yq11.223 | RNA binding motif protein Y-linked family 1 member A1 | 12525536[PMID]_20671934[PMID] |
| TSPY1 | Modifying germline mutation in | Assessed | HGNC:12381 | ENSG00000258992 | 480100 | Yp11.2 | testis specific protein Y-linked 1 | 23307928[PMID] |
| AZF1 | Role in the phenotype of | Assessed | HGNC:908 | Yq11 | azoospermia factor 1 | 19246359[PMID] | ||
| USP9Y | Role in the phenotype of | Assessed | HGNC:12633 | ENSG00000114374 | 400005 | Yq11.221 | ubiquitin specific peptidase 9 Y-linked | 20301513[PMID]_10581029[PMID]_22537385[PMID]_20671934[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-5 / 10 000 | 20.8 / 100 000 | Worldwide | Value and class | Validated | ORPHANET_20301513[PMID] |
| Point prevalence | 1-5 / 10 000 | 20 / 100 000 | Europe | Value and class | Validated | [EXPERT] |
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
6 annotations · validated 2024-02-16| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0008669 | Abnormal spermatogenesis | |
| HP:0008734 | Decreased testicular size | |
| HP:0003251 | Male infertility | |
| HP:0011961 | Non-obstructive azoospermia | |
| Frequent (79-30%) | ||
| HP:0000798 | Oligozoospermia | |
| Occasional (29-5%) | ||
| HP:0000028 | Cryptorchidism | |
Run the differential on the 4 obligate / very frequent terms
Annotation source: 33214080[PMID]_19246359[PMID]_19602516[PMID]_18782837[PMID]_18807255[PMID]_16720375[PMID]_11687796[PMID]_10523011[PMID]_10523003[PMID]_17213277[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1646
- This record as JSON: /data/d/1646.json