HYDM4
MCID: HYD068
MIFTS: 17

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 73 29 6
Hydm4 57 73

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal recessive

Miscellaneous:
based on a report of 2 unrelated women (last curated march 2020)


HPO:

31
hydatidiform mole, recurrent, 4:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM® 57 618432
OMIM Phenotypic Series 57 PS231090
MeSH 44 D006828
SNOMED-CT via HPO 68 258211005 6738008

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) (Updated 05-Mar-2021)

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, and related phenotypes are female infertility and hydatidiform mole

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

Human phenotypes related to Hydatidiform Mole, Recurrent, 4:

31
# Description HPO Frequency HPO Source Accession
1 female infertility 31 very rare (1%) HP:0008222
2 hydatidiform mole 31 very rare (1%) HP:0032192
3 recurrent spontaneous abortion 31 HP:0200067

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Genitourinary Internal Genitalia Female:
infertility

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

Prenatal Manifestations Delivery:
spontaneous abortion

Clinical features from OMIM®:

618432 (Updated 05-Mar-2021)

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. 57 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
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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