Partial hydatidiform mole
Synonyms: Incomplete hydatidiform mole · Incomplete molar pregnancy · Partial molar pregnancy
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- 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 a normal ovocyte by two spermatozoa or one abnormal spermatozoon (allowing for some fetal development), and that manifests with vaginal bleeding accompanied by nausea and frequent vomiting, hyperemesis gravidarum, hyperthyroidism and risk of spontaneous miscarriage.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Partial hydatidiform mole | Incomplete hydatidiform mole · Incomplete molar pregnancy · Partial molar pregnancy |
| fr | Môle hydatiforme partielle | Grossesse môlaire incomplète · Grossesse môlaire partielle · Môle hydatiforme incomplète |
| de | Mole, hydatiforme partielle | Blasenmole, inkomplette |
| es | Mola hidatidiforme parcial | Embarazo molar incompleto · Embarazo molar parcial · Mola hidatidiforme incompleta |
| it | Mola idatiforme parziale | Gravidanza molare incompleta · Gravidanza molare parziale · Mola idatiforme incompleta |
| nl | Partiële mola hydatidosa | Incomplete mola hydatidosa · Partiële mola-zwangerschap · Partiële molaire zwangerschap · Partiële molazwangerschap |
| pt | Mola hidatiforme parcial | Gravidez molar parcial |
| pl | Częściowy zaśniad groniasty | = en |
| cs | Parciální hydatidiformní mola | Nekompletní hydatidiformní mola · Nekompletní molární těhotenství · Parciální molární těhotenství |
| uk | Часткова гідратоподібна родимка | Неповна гідратоподібна родимка · Неповна молярна вагітність · Часткова молярна вагітність |
| zh | 部分性葡萄胎 | 不完全性葡萄胎 |
| tr | Kısmi hidatidiform mol | Kısmi molar gebelik · Eksik molar gebelik · Eksik hidatidiform mol |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | O01.1 | E | specific | validated |
| ICD-11 | JA02.1 | E | specific | validated |
| MONDO | 0016786 | E | validated | |
| UMLS | C0334529 | 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
2 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 | 24533231[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] |
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/254693
- This record as JSON: /data/d/254693.json