HYDM3
MCID: HYD067
MIFTS: 15

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 57 74 29 6
Hydm3 57 74

Classifications:



External Ids:

MeSH 44 D006828
MedGen 42 CN258388

Summaries for Hydatidiform Mole, Recurrent, 3

OMIM : 57 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). Affiliated tissues include uterus.

UniProtKB/Swiss-Prot : 74 Hydatidiform mole, recurrent, 3: A disorder characterized by excessive trophoblast development that produces a growing mass of tissue inside the uterus at the beginning of a pregnancy. It leads to abnormal pregnancies with no embryo, and cystic degeneration of the chorionic villi.

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

Genetic tests related to Hydatidiform Mole, Recurrent, 3:

# Genetic test Affiliating Genes
1 Hydatidiform Mole, Recurrent, 3 29 MEI1

Anatomical Context for Hydatidiform Mole, Recurrent, 3

MalaCards organs/tissues related to Hydatidiform Mole, Recurrent, 3:

41
Uterus

Publications for Hydatidiform Mole, Recurrent, 3

Articles related to Hydatidiform Mole, Recurrent, 3:

# Title Authors PMID Year
1
Causative Mutations and Mechanism of Androgenetic Hydatidiform Moles. 8 71
30388401 2018

Variations for Hydatidiform Mole, Recurrent, 3

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

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 MEI1 NM_152513.4(MEI1): c.3452G> A (p.Trp1151Ter) single nucleotide variant Pathogenic rs749779829 22:42190399-42190399 22:41794395-41794395
2 MEI1 NM_152513.4(MEI1): c.1196+1G> A single nucleotide variant Pathogenic 22:42128349-42128349 22:41732345-41732345
3 MEI1 NM_152513.4(MEI1): c.2206del (p.Val736fs) deletion Pathogenic 22:42159263-42159263 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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
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44 MeSH
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58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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