Complete hydatidiform mole
Synonyms: Complete molar pregnancy
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal recessive, Not applicable
- Age of onset
- Adult
- Status
- active
A form of hydatiform mole characterized by abnormal hyperplastic trophoblasts and hydropic villi due to fertilization of an enucleated ovocyte by one or two haploid spermatozoa that can manifest with vaginal bleeding accompanied by nausea and frequent vomiting, hyperemesis gravidarum, risk of spontaneous miscarriage, hyperthyroidism, and has the potential of developing into choriocarcinoma.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Complete hydatidiform mole | Complete molar pregnancy |
| fr | Môle hydatiforme complète | Grossesse môlaire complète |
| de | Mole, hydatiforme komplette | Blasenmole, vollständige |
| es | Mola hidatidiforme completa | Embarazo molar completo |
| it | Mola idatiforme completa | Gravidanza molare completa |
| nl | Complete mola hydatidosa | Complete mola-zwangerschap · Complete molaire zwangerschap · Complete molazwangerschap · Volledige mola hydatidosa |
| pt | Mola hidatidiforme completa | Gravidez molar completa |
| pl | Całkowity zaśniad groniasty | = en |
| cs | Kompletní hydatidiformní mola | Kompletní molární těhotenství |
| uk | Повна гідратоподібна родимка | Повна молярна вагітність |
| zh | 完全性葡萄胎 | 完全性葡萄胎妊娠 |
| tr | Tam hidatidiform mol | Tam molar gebelik |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 231090 | BTNT | validated | |
| OMIM | 614293 | BTNT | validated | |
| OMIM | 618431 | BTNT | validated | |
| OMIM | 618432 | BTNT | validated | |
| ICD-10 | O01.0 | E | specific | validated |
| ICD-11 | JA02.0 | E | specific | validated |
| MONDO | 0016785 | E | validated | |
| UMLS | C0678213 | 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:99927Hydatidiform mole
rare neoplastic diseases; rare gynecological and obstetric diseases
No children.
Genes
4 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| KHDC3L | Disease-causing germline mutation(s) in | Assessed | HGNC:33699 | ENSG00000203908 | 611687 | 6q13 | KH domain containing 3 like, subcortical maternal complex member | 21885028[PMID]_24533231[PMID] |
| MEI1 | Disease-causing germline mutation(s) in | Assessed | HGNC:28613 | ENSG00000167077 | 608797 | 22q13.2 | meiotic double-stranded break formation protein 1 | 30388401[PMID] |
| NLRP7 | Disease-causing germline mutation(s) in | Assessed | HGNC:22947 | ENSG00000167634 | 609661 | 19q13.42 | NLR family pyrin domain containing 7 | 19246479[PMID]_24533231[PMID] |
| TOP6BL | Disease-causing germline mutation(s) in | Assessed | HGNC:26197 | ENSG00000173715 | 616109 | 11q13.2 | TOP6B like initiator of meiotic double strand breaks | 30388401[PMID] |
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | 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.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/254688
- This record as JSON: /data/d/254688.json