HYDM3
MCID: HYD067
MIFTS: 18

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 56 73 29 6
Hydm3 56 73

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
based on a report of 3 sisters and an unrelated woman (last curated may 2019)


HPO:

31
hydatidiform mole, recurrent, 3:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 56 618431
OMIM Phenotypic Series 56 PS231090
MeSH 43 D006828
MedGen 41 CN258388
SNOMED-CT via HPO 68 15296000 258211005 8619003

Summaries for Hydatidiform Mole, Recurrent, 3

OMIM : 56 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, and related phenotypes are infertility and hydatidiform mole

UniProtKB/Swiss-Prot : 73 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

Human phenotypes related to Hydatidiform Mole, Recurrent, 3:

31
# Description HPO Frequency HPO Source Accession
1 infertility 31 HP:0000789
2 hydatidiform mole 31 HP:0032192

Symptoms via clinical synopsis from OMIM:

56
Genitourinary Internal Genitalia Female:
infertility

Genitourinary External Genitalia Male:
nonobstructive azoospermia (in the brother of an affected sister)

Prenatal Manifestations Placenta And Umbilical Cord:
hydatidiform mole
gestational trophoblastic disease

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

Anatomical Context for Hydatidiform Mole, Recurrent, 3

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

40
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. 6 56
30388401 2018

Variations for Hydatidiform Mole, Recurrent, 3

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

6 ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 MEI1 NM_152513.4(MEI1):c.1196+1G>ASNV Pathogenic 627577 rs1569203272 22:42128349-42128349 22:41732345-41732345
2 MEI1 NM_152513.4(MEI1):c.2206del (p.Val736fs)deletion Pathogenic 627578 rs759915989 22:42159262-42159262 22:41763258-41763258
3 MEI1 NM_152513.4(MEI1):c.3452G>A (p.Trp1151Ter)SNV Likely pathogenic 627576 rs749779829 22:42190399-42190399 22:41794395-41794395

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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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