Hydatidiform mole, recurrent, 4

Summary

Hydatidiform mole is a human pregnancy with abnormal or no embryonic development and excessive trophoblastic proliferation. Partial hydatidiform moles have a triploid dispermic genome, with 2 sets of paternal chromosomes and 1 set of maternal chromosomes; complete hydatidiform moles have a diploid androgenetic genome with all chromosomes originating from 1 (monospermic) or 2 (dispermic) sperms, and no maternal chromosomes (summary by Nguyen et al., 2018). For a discussion of genetic heterogeneity of recurrent hydatidiform mole, see HYDM1 (231090). [from OMIM]

Available tests

1 test is in the database for this condition.

Clinical tests (1 available)

Molecular Genetics Tests

Sequence analysis of the entire coding region (1)

Genes See tests for all associated and related genes

Associated genes Help
Genes reported to contribute to the condition.

TOP6BL
3 tests
Also known as: C11orf80, HYDM4, TOPOVIBL, TOP6BL
Summary: TOP6B like initiator of meiotic double strand breaks

Imported from Human Phenotype Ontology (HPO)

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Abnormality of prenatal development or birth
- Hydatidiform mole
  Hydatidiform mole
  - MedGen UID: 9329
  - Concept ID: C0020217
  - Finding: Neoplastic Process
  Abnormality of prenatal development or birth
  See: Feature record | Search on this feature
Abnormality of the genitourinary system
- Female infertility
  Female infertility
  - MedGen UID: 5795
  - Concept ID: C0021361
  - Finding: Pathologic Function
  Abnormality of the genitourinary system
  See: Feature record | Search on this feature

Reviews

Clinical resources

Practice guidelines

NCCN, 2022
NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®) Gestational Trophoblastic Neoplasia, 2022

Molecular resources

Consumer resources

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