Complete hydatidiform mole

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Complete hydatidiform mole

ORPHA:254688Clinical subtype

Also called Complete molar pregnancy

What it is

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.

Key facts

Age of onset
Adult
Inheritance
Autosomal recessive, Not applicable
Classified as
Clinical subtype

Genes

KHDC3LDisease-causing germline mutation(s)
MEI1Disease-causing germline mutation(s)
NLRP7Disease-causing germline mutation(s)
TOP6BLDisease-causing germline mutation(s)

ICD-10 codes

O01.0ICD-10 names this disease exactly — shared with 1 other rare disease

ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.

Related health topics

Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.

Cross-references

MONDO 0016785OMIM 231090OMIM 614293OMIM 618431OMIM 618432UMLS C0678213

Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.

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