HYDM3
MCID: HYD067
MIFTS: 9

Hydatidiform Mole, Recurrent, 3 (HYDM3)

Categories: Cancer diseases, Fetal diseases, Genetic diseases, Rare diseases, Reproductive diseases

Aliases & Classifications for Hydatidiform Mole, Recurrent, 3

MalaCards integrated aliases for Hydatidiform Mole, Recurrent, 3:

Name: Hydatidiform Mole, Recurrent, 3 58 6
Hydm3 58

Classifications:



External Ids:

OMIM 58 618431

Summaries for Hydatidiform Mole, Recurrent, 3

OMIM : 58 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). (618431)

MalaCards based summary : Hydatidiform Mole, Recurrent, 3, is also known as hydm3. An important gene associated with Hydatidiform Mole, Recurrent, 3 is MEI1 (Meiotic Double-Stranded Break Formation Protein 1).

Related Diseases for Hydatidiform Mole, Recurrent, 3

Symptoms & Phenotypes for Hydatidiform Mole, Recurrent, 3

Clinical features from OMIM:

618431

Drugs & Therapeutics for Hydatidiform Mole, Recurrent, 3

Search Clinical Trials , NIH Clinical Center for Hydatidiform Mole, Recurrent, 3

Genetic Tests for Hydatidiform Mole, Recurrent, 3

Anatomical Context for Hydatidiform Mole, Recurrent, 3

Publications for Hydatidiform Mole, Recurrent, 3

Variations for Hydatidiform Mole, Recurrent, 3

ClinVar genetic disease variations for Hydatidiform Mole, Recurrent, 3:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 MEI1 NM_152513.4(MEI1): c.3452G> A (p.Trp1151Ter) single nucleotide variant Pathogenic rs749779829 GRCh38 Chromosome 22, 41794395: 41794395
2 MEI1 NM_152513.4(MEI1): c.3452G> A (p.Trp1151Ter) single nucleotide variant Pathogenic rs749779829 GRCh37 Chromosome 22, 42190399: 42190399
3 MEI1 NM_152513.4(MEI1): c.1196+1G> A single nucleotide variant Pathogenic GRCh38 Chromosome 22, 41732345: 41732345
4 MEI1 NM_152513.4(MEI1): c.1196+1G> A single nucleotide variant Pathogenic GRCh37 Chromosome 22, 42128349: 42128349
5 MEI1 NM_152513.4(MEI1): c.2206del (p.Val736Serfs) deletion Pathogenic GRCh37 Chromosome 22, 42159263: 42159263
6 MEI1 NM_152513.4(MEI1): c.2206del (p.Val736Serfs) deletion Pathogenic GRCh38 Chromosome 22, 41763259: 41763259

Expression for Hydatidiform Mole, Recurrent, 3

Search GEO for disease gene expression data for Hydatidiform Mole, Recurrent, 3.

Pathways for Hydatidiform Mole, Recurrent, 3

GO Terms for Hydatidiform Mole, Recurrent, 3

Sources for Hydatidiform Mole, Recurrent, 3

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