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 57 74 29 6
Hydm4 57 74

Classifications:



External Ids:

MeSH 44 D006828
MedGen 42 CN258389

Summaries for Hydatidiform Mole, Recurrent, 4

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). (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 : 74 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:

41
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. 8 71
30388401 2018

Variations for Hydatidiform Mole, Recurrent, 4

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

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 C11orf80 NM_024650.3(C11orf80): c.783dup (p.Glu262Ter) duplication Pathogenic 11:66568511-66568511 11:66801040-66801040
2 C11orf80 NM_024650.3(C11orf80): c.1501T> C (p.Ser501Pro) single nucleotide variant Pathogenic 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 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
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36 IUPHAR
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38 LifeMap
40 LOVD
42 MedGen
44 MeSH
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46 MGI
49 NCI
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51 NDF-RT
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57 OMIM
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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