ORPHA:488191
Female infertility due to oocyte meiotic arrest
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Adolescent, Adult
- Status
- active
A rare genetic female infertility characterized by oocyte maturation arrest during any of the various stages of meiosis I or II. In some patients, first polar body oocytes may be retrieved, but these either show fertilization failure or early embryonic arrest. Affected women have regular menstrual cycles.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Female infertility due to oocyte meiotic arrest | |
| fr | Infertilité féminine due à un blocage en méiose | Infertilité féminine due à un blocage méiotique |
| de | Infertilität, weibliche, durch Stillstand der meiotischen Eizellreifung | |
| es | Infertilidad femenina por arresto meiótico del ovocito | |
| it | Infertilità femminile da arresto meiotico degli ovociti | |
| nl | Vrouwelijke infertiliteit door meiotisch arrest van oöcyt | |
| pt | Infertilidade feminina por paragem meiótica do oócito | |
| pl | Niepłodność żeńska z powodu zatrzymania oocytu w mejozie | |
| cs | Ženská neplodnost způsobená zástavou meiózy oocytů | |
| uk | Жіноче безпліддя, зумовлене зупинкою мейозу ооцитів | |
| zh | 卵母细胞减数分裂停滞引起的女性不育 | |
| tr | Oosit mayotik tutukluğa bağlı kadın infertilitesi |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 616780 | BTNT | validated | |
| OMIM | 616814 | BTNT | validated | |
| OMIM | 617234 | BTNT | validated | |
| OMIM | 617743 | BTNT | validated | |
| OMIM | 617996 | BTNT | validated | |
| OMIM | 618550 | BTNT | validated | |
| OMIM | 619009 | BTNT | validated | |
| OMIM | 619011 | BTNT | validated | |
| OMIM | 619176 | BTNT | validated | |
| OMIM | 619697 | BTNT | validated | |
| OMIM | 620154 | BTNT | validated | |
| OMIM | 620319 | BTNT | validated | |
| OMIM | 620332 | BTNT | validated | |
| OMIM | 620333 | BTNT | validated | |
| OMIM | 620383 | BTNT | validated | |
| OMIM | 620610 | BTNT | validated | |
| OMIM | 621471 | BTNT | validated | |
| ICD-10 | N97.8 | NTBT | attributed | validated |
| ICD-11 | GA31.0Y | NTBT | attributed | validated |
| MONDO | 0044626 | E | validated | |
| UMLS | C5567489 | 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:404469Rare female infertility due to oocyte maturation defect
rare genetic diseases; rare infertility disorders
No children.
4
Genes
15 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| PANX1 | Disease-causing germline mutation(s) (gain of function) in | Assessed | HGNC:8599 | ENSG00000110218 | 608420 | 11q21 | pannexin 1 | 33495594[PMID] |
| PATL2 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:33630 | ENSG00000229474 | 614661 | 15q21.1 | PAT1 homolog 2 | 28965849[PMID] |
| WEE2 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:19684 | ENSG00000214102 | 614084 | 7q34 | WEE2 oocyte meiosis inhibiting kinase | 29606300[PMID] |
| CDC20 | Disease-causing germline mutation(s) in | Assessed | HGNC:1723 | ENSG00000117399 | 603618 | 1p34.2 | cell division cycle 20 | 32666501[PMID]_33683667[PMID] |
| CHEK1 | Disease-causing germline mutation(s) in | Assessed | HGNC:1925 | ENSG00000149554 | 603078 | 11q24.2 | checkpoint kinase 1 | 33953335[PMID] |
| FBXO43 | Disease-causing germline mutation(s) in | Assessed | HGNC:28521 | ENSG00000156509 | 609110 | 8q22.2 | F-box protein 43 | 34052850[PMID] |
| KPNA7 | Disease-causing germline mutation(s) in | Assessed | HGNC:21839 | ENSG00000185467 | 614107 | 7q22.1 | karyopherin subunit alpha 7 | 36647821[PMID] |
| MOS | Disease-causing germline mutation(s) in | Assessed | HGNC:7199 | ENSG00000172680 | 190060 | 8q12.1 | MOS proto-oncogene, serine/threonine kinase | 34779126[PMID]_34997960[PMID] |
| NLRP2 | Disease-causing germline mutation(s) in | Assessed | HGNC:22948 | ENSG00000022556 | 609364 | 19q13.42 | NLR family pyrin domain containing 2 | 30877238[PMID] |
| NLRP5 | Disease-causing germline mutation(s) in | Assessed | HGNC:21269 | ENSG00000171487 | 609658 | 19q13.43 | NLR family pyrin domain containing 5 | 35946397[PMID] |
| NLRP7 | Disease-causing germline mutation(s) in | Assessed | HGNC:22947 | ENSG00000167634 | 609661 | 19q13.42 | NLR family pyrin domain containing 7 | 37148315[PMID] |
| PADI6 | Disease-causing germline mutation(s) in | Assessed | HGNC:20449 | 1p36.13 | peptidyl arginine deiminase 6 | 27545678[PMID] | ||
| TLE6 | Disease-causing germline mutation(s) in | Assessed | HGNC:30788 | ENSG00000104953 | 612399 | 19p13.3 | TLE family member 6, subcortical maternal complex member | 26537248[PMID] |
| TUBB8 | Disease-causing germline mutation(s) in | Assessed | HGNC:20773 | ENSG00000261456 | 616768 | 10p15.3 | tubulin beta 8 class VIII | 26789871[PMID] |
| ZFP36L2 | Disease-causing germline mutation(s) in | Assessed | HGNC:1108 | ENSG00000152518 | 612053 | 2p21 | ZFP36 like 2 zinc finger CCCH-type | 34611029[PMID] |
5
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 16 cases | Worldwide | Case(s) | Validated | 27273344[PMID] | |
| Point prevalence | Unknown | — | Worldwide | Class only | Validated | ORPHANET_27273344[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.
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HPO phenotypes
6 annotations · validated 2021-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Obligate (100%) | ||
| HP:0031515 | Abnormal meiosis | |
| HP:0008222 | Female infertility | |
| Frequent (79-30%) | ||
| HP:0031516 | Oocyte arrest at metaphase I | |
| Occasional (29-5%) | ||
| HP:0020155 | Abnormal oocyte morphology | |
| Excluded (0%) | ||
| HP:0008669 | Abnormal spermatogenesis | |
| HP:0000147 | Polycystic ovaries | |
Run the differential on the 2 obligate / very frequent terms
Annotation source: 20378111[PMID]_28965844[PMID]_26789871[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/488191
- This record as JSON: /data/d/488191.json