HYDM4
MCID: HYD068
MIFTS: 9

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 58 6
Hydm4 58

Classifications:



External Ids:

OMIM 58 618432

Summaries for Hydatidiform Mole, Recurrent, 4

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). (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).

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

Anatomical Context for Hydatidiform Mole, Recurrent, 4

Publications for Hydatidiform Mole, Recurrent, 4

Variations for Hydatidiform Mole, Recurrent, 4

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 C11orf80 NM_024650.3(C11orf80): c.783dup (p.Glu262Terfs) duplication Pathogenic GRCh37 Chromosome 11, 66568511: 66568511
2 C11orf80 NM_024650.3(C11orf80): c.783dup (p.Glu262Terfs) duplication Pathogenic GRCh38 Chromosome 11, 66801040: 66801040
3 C11orf80 NM_024650.3(C11orf80): c.1501T> C (p.Ser501Pro) single nucleotide variant Pathogenic GRCh38 Chromosome 11, 66822606: 66822606
4 C11orf80 NM_024650.3(C11orf80): c.1501T> C (p.Ser501Pro) single nucleotide variant Pathogenic GRCh37 Chromosome 11, 66590077: 66590077

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

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