Female infertility due to zona pellucida defect
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant, Autosomal recessive
- Age of onset
- Adult
- Status
- active
Female infertility due to zona pellucida defect is a rare, genetic, female infertility disorder characterized by the presence of abnormal oocytes that lack a zona pellucida. Affected individuals are unable to conceive despite having normal menstrual cycles and sex hormone levels, as well as no obstructions in the fallopian tubes or defects of the uterus or adnexa.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Female infertility due to zona pellucida defect | |
| fr | Infertilité féminine par défaut de la zone pellucide | |
| de | Weibliche Infertilität durch Zona pellucida-Defekt | |
| es | Infertilidad femenina por un defecto de la zona pelúcida | |
| it | Infertilità femminile da difetto della zona pellucida | |
| nl | Vrouwelijke infertiliteit door defect van zona pellucida | |
| pt | Infertilidade feminina por anomalias da zona pelúcida | |
| pl | Niepłodność żeńska z powodu wady osłonki przejrzystej | |
| cs | Ženská neplodnost způsobená defektem zona pellucida | |
| uk | Жіноче безпліддя, зумовлене дефектом зони pellucida | |
| zh | 透明带缺损导致的女性不育 | |
| tr | Zona pellusida defektine bağlı kadın infertilitesi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 615774 | BTNT | validated | |
| OMIM | 617712 | BTNT | validated | |
| OMIM | 618353 | BTNT | validated | |
| ICD-10 | N97.8 | NTBT | attributed | validated |
| ICD-11 | GA31.0Y | NTBT | attributed | validated |
| MONDO | 0014342 | E | validated | |
| UMLS | C4749433 | 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:404469Rare female infertility due to oocyte maturation defect
rare genetic diseases; rare infertility disorders
No children.
Genes
3 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ZP3 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:13189 | ENSG00000188372 | 182889 | 7q11.23 | zona pellucida glycoprotein 3 | 28886340[PMID] |
| ZP1 | Disease-causing germline mutation(s) in | Assessed | HGNC:13187 | ENSG00000149506 | 195000 | 11q12.2 | zona pellucida glycoprotein 1 | 24670168[PMID] |
| ZP2 | Disease-causing germline mutation(s) in | Assessed | HGNC:13188 | ENSG00000103310 | 182888 | 16p12.3-p12.2 | zona pellucida glycoprotein 2 | 28646452[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 4 cases | Worldwide | Case(s) | Validated | 24670168[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_24670168[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
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/404466
- This record as JSON: /data/d/404466.json