Hydatidiform mole
Synonyms: Molar pregnancy
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive, Not applicable
- Age of onset
- Adolescent, Adult
- Status
- active
A rare, benign gestational trophoblastic disease that develops during pregnancy and is characterized by the abnormal fertilization, trophoblastic proliferation, and abnormal or absent embryo development. Hydatidiform moles can be either complete or partial.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Hydatidiform mole | Molar pregnancy |
| fr | Môle hydatiforme | Grossesse môlaire |
| de | Mola hydatidosa | Blasenmole |
| es | Mola hidatiforme | Embarazo molar |
| it | Mola idatiforme | Gravidanza molare |
| nl | Mola hydatidosa | Mola-zwangerschap · Molaire zwangerschap · Molazwangerschap |
| pt | Mola hidatidiforme | |
| pl | Zaśniad groniasty | Zaśniad ciążowy |
| cs | Hydatiformní mola | Molární těhotenství |
| uk | Гідатидоподібна родимка | Молярна вагітність |
| zh | 葡萄胎 | 葡萄胎妊娠 |
| tr | Hidatidiform mol | Molar gebelik |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 231090 | BTNT | validated | |
| OMIM | 614293 | BTNT | validated | |
| ICD-10 | O01.0 | BTNT | specific | validated |
| ICD-10 | O01.1 | BTNT | specific | validated |
| ICD-10 | O01.9 | BTNT | specific | validated |
| ICD-11 | JA02 | E | specific | validated |
| MONDO | 0006248 | E | validated | |
| MeSH | D006828 | E | validated | |
| UMLS | C0020217 | E | validated | |
| GARD | 10263 | E | validated | |
| MedDRA | 10020481 | 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:254685Gestational trophoblastic disease
rare neoplastic diseases; rare gynecological and obstetric diseases
Genes
0 direct · 6 via subtypesOrphanet records no gene directly on this code.
Recorded by Orphanet on subtypes of this disorder:
| Gene | Subtype | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|---|
| KHDC3L | ORPHA:254688Complete hydatidiform mole | 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] |
| KHDC3L | ORPHA:254693Partial hydatidiform mole | Disease-causing germline mutation(s) in | Assessed | HGNC:33699 | ENSG00000203908 | 611687 | 6q13 | KH domain containing 3 like, subcortical maternal complex member | 24533231[PMID] |
| MEI1 | ORPHA:254688Complete hydatidiform mole | Disease-causing germline mutation(s) in | Assessed | HGNC:28613 | ENSG00000167077 | 608797 | 22q13.2 | meiotic double-stranded break formation protein 1 | 30388401[PMID] |
| NLRP7 | ORPHA:254688Complete hydatidiform mole | Disease-causing germline mutation(s) in | Assessed | HGNC:22947 | ENSG00000167634 | 609661 | 19q13.42 | NLR family pyrin domain containing 7 | 19246479[PMID]_24533231[PMID] |
| NLRP7 | ORPHA:254693Partial hydatidiform mole | Disease-causing germline mutation(s) in | Assessed | HGNC:22947 | ENSG00000167634 | 609661 | 19q13.42 | NLR family pyrin domain containing 7 | 19246479[PMID]_24533231[PMID] |
| TOP6BL | ORPHA:254688Complete hydatidiform mole | 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
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Validated | ORPHANET |
| Annual incidence | Unknown | — | Worldwide | Class only | 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
7 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001903 | Anemia | |
| HP:0100878 | Enlarged uterus | |
| HP:0400008 | Menometrorrhagia | |
| HP:0002017 | Nausea and vomiting | |
| HP:0100602 | Preeclampsia | |
| HP:0005268 | Spontaneous abortion | |
| Occasional (29-5%) | ||
| HP:0000836 | Hyperthyroidism | |
Run the differential on the 6 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/99927
- This record as JSON: /data/d/99927.json