HYDM4
MCID: HYD068
MIFTS: 15

Hydatidiform Mole, Recurrent, 4 (HYDM4)

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

Aliases & Classifications for Hydatidiform Mole, Recurrent, 4

MalaCards integrated aliases for Hydatidiform Mole, Recurrent, 4:

Name: Hydatidiform Mole, Recurrent, 4 56 73 29 6
Hydm4 56 73

Classifications:



External Ids:

OMIM 56 618432
OMIM Phenotypic Series 56 PS231090
MeSH 43 D006828
MedGen 41 CN258389

Summaries for Hydatidiform Mole, Recurrent, 4

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). (618432)

MalaCards based summary : Hydatidiform Mole, Recurrent, 4, is also known as hydm4. An important gene associated with Hydatidiform Mole, Recurrent, 4 is C11orf80 (Chromosome 11 Open Reading Frame 80). Affiliated tissues include uterus.

UniProtKB/Swiss-Prot : 73 Hydatidiform mole, recurrent, 4: 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, 4

Symptoms & Phenotypes for Hydatidiform Mole, Recurrent, 4

Clinical features from OMIM:

618432

Drugs & Therapeutics for Hydatidiform Mole, Recurrent, 4

Search Clinical Trials , NIH Clinical Center for Hydatidiform Mole, Recurrent, 4

Genetic Tests for Hydatidiform Mole, Recurrent, 4

Genetic tests related to Hydatidiform Mole, Recurrent, 4:

# Genetic test Affiliating Genes
1 Hydatidiform Mole, Recurrent, 4 29 C11orf80

Anatomical Context for Hydatidiform Mole, Recurrent, 4

MalaCards organs/tissues related to Hydatidiform Mole, Recurrent, 4:

40
Uterus

Publications for Hydatidiform Mole, Recurrent, 4

Articles related to Hydatidiform Mole, Recurrent, 4:

# Title Authors PMID Year
1
Causative Mutations and Mechanism of Androgenetic Hydatidiform Moles. 56 6
30388401 2018

Variations for Hydatidiform Mole, Recurrent, 4

ClinVar genetic disease variations for Hydatidiform Mole, Recurrent, 4:

6 ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 C11orf80 NM_024650.3(C11orf80):c.783dup (p.Glu262Ter)duplication Pathogenic 627625 rs779402951 11:66568510-66568511 11:66801039-66801040
2 C11orf80 NM_024650.3(C11orf80):c.1501T>C (p.Ser501Pro)SNV Uncertain significance 627626 rs1449401018 11:66590077-66590077 11:66822606-66822606

Expression for Hydatidiform Mole, Recurrent, 4

Search GEO for disease gene expression data for Hydatidiform Mole, Recurrent, 4.

Pathways for Hydatidiform Mole, Recurrent, 4

GO Terms for Hydatidiform Mole, Recurrent, 4

Sources for Hydatidiform Mole, Recurrent, 4

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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