ORPHA:48
Congenital bilateral absence of vas deferens
Synonyms: CBAVD · Congenital bilateral agenesis of vas deferens · Congenital bilateral aplasia of vas deferens
- Type
- Morphological anomaly
- Group
- Disorder
- Inheritance
- Multigenic/multifactorial
- Age of onset
- Adolescent, Adult
- Status
- active
A rare non-syndromic urogenital tract malformation characterized by improper development of the vas deferens leading to male infertility.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Congenital bilateral absence of vas deferens | CBAVD · Congenital bilateral agenesis of vas deferens · Congenital bilateral aplasia of vas deferens |
| fr | Absence congénitale bilatérale des canaux déférents | ABCD · Agénésie congénitale bilatérale des canaux déférents · Aplasie congénitale bilatérale des canaux déférents |
| de | Vas-deferens-Aplasie, bilaterale kongenitale | CBAVD · Kongenitale bilaterale Agenesie der Samenleiter |
| es | Ausencia congénita bilateral de los conductos deferentes | CBAVD · Agenesia congénita bilateral de los conductos deferentes · Aplasia congénita bilateral de los conductos deferentes |
| it | Assenza bilaterale congenita dei vasi deferenti | CBAVD · Agenesia bilaterale congenita dei vasi deferenti · Aplasia bilaterale congenita dei vasi deferenti |
| nl | Congenitale bilaterale afwezigheid van vas deferens | Congenitale bilaterale afwezigheid van zaadleider · Congenitale bilaterale agenesie van vas deferens · Congenitale bilaterale aplasie van vas deferens · CBAVD |
| pt | Aplasia dos canais deferentes bilateral congénita | |
| pl | Wrodzony brak nasieniowodów | Wrodzona obustronna aplazja nasieniowodów · Wrodzona obustronna agenezja nasieniowodów |
| cs | Vrozená oboustranná absence vas deferens | Vrozená bilatelární ageneze vas deferens · Vrozená bilatelární aplázie vas deferens · CBAVD |
| uk | Вроджена двобічна відсутність сімявивідних протоків | Вроджена двобічна агенезія сімявивідних протоків · Вроджена двостороння аплазія сімявивідних проток |
| zh | 先天性双侧输精管缺如 | 先天性双侧输精管不发育 |
| tr | Vas deferens doğumsal bilateral yokluğu | Vas deferens'in Doğumsal bilateral aplazisi · Vas deferens'in Doğumsal bilateral agenezisi |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 277180 | BTNT | validated | |
| OMIM | 300985 | BTNT | validated | |
| ICD-10 | Q55.4 | NTBT | attributed | validated |
| ICD-11 | LB57 | NTBT | attributed | validated |
| MONDO | 0018801 | E | validated | |
| MeSH | C535984 | E | validated | |
| UMLS | C0403814 | E | validated | |
| GARD | 5461 | E | validated | |
| MedDRA | 10010670 | 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 (4):
- ORPHA:156622Genetic urogenital tract malformation
rare genetic diseases - ORPHA:98343Male infertility due to obstructive azoospermia
rare infertility disorders - ORPHA:399998Male infertility due to obstructive azoospermia of genetic origin
rare genetic diseases - ORPHA:182121Non-syndromic urogenital tract malformation of male
rare developmental anomalies during embryogenesis; rare urogenital diseases; rare transplant-related disorders
No children.
4
Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ADGRG2 | Disease-causing germline mutation(s) in | Assessed | HGNC:4516 | ENSG00000173698 | 300572 | Xp22.13 | adhesion G protein-coupled receptor G2 | 27476656[PMID] |
| CFTR | Disease-causing germline mutation(s) in | Assessed | HGNC:1884 | ENSG00000001626 | 602421 | 7q31.2 | CF transmembrane conductance regulator | 7539342[PMID]_10651488[PMID] |
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Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-5 / 10 000 | 50 / 100 000 | Europe | Value and class | 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.
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HPO phenotypes
7 annotations · validated 2024-02-22| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0012873 | Absent vas deferens | |
| HP:0003251 | Male infertility | |
| HP:0011962 | Obstructive azoospermia | |
| Frequent (79-30%) | ||
| HP:0430121 | Seminal vesicle agenesis | |
| HP:0000122 | Unilateral renal agenesis | |
| Occasional (29-5%) | ||
| HP:0012210 | Abnormal renal morphology | |
| HP:0000798 | Oligozoospermia | |
Run the differential on the 3 obligate / very frequent terms
Annotation source: 24839497[PMID]_32025909[PMID]_30136289[PMID]_8697849[PMID]_9302172[PMID]_8916686[PMID]_5656994[PMID]_24286764[PMID]_7823702[PMID]_7739684[PMID]_7968122[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/48
- This record as JSON: /data/d/48.json