HYDM2
MCID: HYD041
MIFTS: 23

Hydatidiform Mole, Recurrent, 2 (HYDM2)

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

Aliases & Classifications for Hydatidiform Mole, Recurrent, 2

MalaCards integrated aliases for Hydatidiform Mole, Recurrent, 2:

Name: Hydatidiform Mole, Recurrent, 2 56 73 29 13 6 71
Hydm2 56 73
Mole, Hydatidiform, Recurrent, Type 2 39
Hydatidiform Mole, Complete 56
Hydatidiform Mole Complete 73

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive


HPO:

31
hydatidiform mole, recurrent, 2:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 56 614293
OMIM Phenotypic Series 56 PS231090
MeSH 43 D006828
SNOMED-CT via HPO 68 258211005
UMLS 71 C3280352

Summaries for Hydatidiform Mole, Recurrent, 2

OMIM : 56 A hydatidiform mole is an abnormal pregnancy characterized by hydropic placental villi, trophoblastic hyperplasia, and poor fetal development. Familial recurrent hydatidiform mole is an autosomal recessive condition in which women experience recurrent pregnancy losses, predominantly complete hydatidiform mole (CHM). However, unlike sporadic CHMs, which are androgenetic with 2 paternal chromosome complements, CHMs associated with familial recurrence are genetically biparental in origin with both a maternal and a paternal contribution to the genome. Other pregnancy losses in this condition include partial hydatidiform mole, stillbirths, ectopic pregnancies, early neonatal deaths, and miscarriages, some of which may be undiagnosed molar pregnancies. Normal pregnancies are extremely rare in families with this condition (summary by Fallahian et al., 2013). For a discussion of genetic heterogeneity of recurrent hydatidiform mole, see HYDM1 (231090). (614293)

MalaCards based summary : Hydatidiform Mole, Recurrent, 2, also known as hydm2, is related to hydatidiform mole, recurrent, 1 and gestational trophoblastic neoplasm. An important gene associated with Hydatidiform Mole, Recurrent, 2 is KHDC3L (KH Domain Containing 3 Like, Subcortical Maternal Complex Member). Affiliated tissues include uterus, and related phenotype is hydatidiform mole.

UniProtKB/Swiss-Prot : 73 Hydatidiform mole, recurrent, 2: 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, 2

Diseases in the Recurrent Hydatidiform Mole family:

Hydatidiform Mole, Recurrent, 1 Hydatidiform Mole, Recurrent, 2
Hydatidiform Mole, Recurrent, 3 Hydatidiform Mole, Recurrent, 4

Diseases related to Hydatidiform Mole, Recurrent, 2 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 hydatidiform mole, recurrent, 1 11.7
2 gestational trophoblastic neoplasm 10.8
3 trophoblastic neoplasm 10.3
4 hyperthyroidism 10.3
5 placenta praevia 10.2
6 partial hydatidiform mole 10.2

Graphical network of the top 20 diseases related to Hydatidiform Mole, Recurrent, 2:



Diseases related to Hydatidiform Mole, Recurrent, 2

Symptoms & Phenotypes for Hydatidiform Mole, Recurrent, 2

Human phenotypes related to Hydatidiform Mole, Recurrent, 2:

31
# Description HPO Frequency HPO Source Accession
1 hydatidiform mole 31 very rare (1%) HP:0032192

Symptoms via clinical synopsis from OMIM:

56
Prenatal Manifestations Placenta And Umbilical Cord:
gestational trophoblastic disease
hydatidiform mole, biparental complete

Clinical features from OMIM:

614293

Drugs & Therapeutics for Hydatidiform Mole, Recurrent, 2

Search Clinical Trials , NIH Clinical Center for Hydatidiform Mole, Recurrent, 2

Genetic Tests for Hydatidiform Mole, Recurrent, 2

Genetic tests related to Hydatidiform Mole, Recurrent, 2:

# Genetic test Affiliating Genes
1 Hydatidiform Mole, Recurrent, 2 29 KHDC3L

Anatomical Context for Hydatidiform Mole, Recurrent, 2

MalaCards organs/tissues related to Hydatidiform Mole, Recurrent, 2:

40
Uterus

Publications for Hydatidiform Mole, Recurrent, 2

Articles related to Hydatidiform Mole, Recurrent, 2:

# Title Authors PMID Year
1
Report of four new patients with protein-truncating mutations in C6orf221/KHDC3L and colocalization with NLRP7. 56 6
23232697 2013
2
Mutations in NLRP7 and KHDC3L confer a complete hydatidiform mole phenotype on digynic triploid conceptions. 56 6
23125094 2013
3
Mutations causing familial biparental hydatidiform mole implicate c6orf221 as a possible regulator of genomic imprinting in the human oocyte. 6 56
21885028 2011
4
Screening for NLRP7 mutations in familial and sporadic recurrent hydatidiform moles: report of 2 Tunisian families. 6 56
21623199 2011
5
Identification of 13 novel NLRP7 mutations in 20 families with recurrent hydatidiform mole; missense mutations cluster in the leucine-rich region. 6 56
19246479 2009
6
A global disorder of imprinting in the human female germ line. 56 6
11932746 2002
7
Clinical and genetic-epignetic aspects of recurrent hydatidiform mole: A review of literature. 61
29458875 2018

Variations for Hydatidiform Mole, Recurrent, 2

ClinVar genetic disease variations for Hydatidiform Mole, Recurrent, 2:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 KHDC3L NM_001017361.3(KHDC3L):c.3G>T (p.Met1Ile)SNV Pathogenic 30926 rs606231233 6:74072455-74072455 6:73362732-73362732
2 KHDC3L NM_001017361.3(KHDC3L):c.322_325del (p.Asp108fs)deletion Pathogenic 30927 rs606231234 6:74072968-74072971 6:73363245-73363248
3 KHDC3L NM_001017361.3(KHDC3L):c.1A>G (p.Met1Val)SNV Pathogenic 30928 rs606231235 6:74072453-74072453 6:73362730-73362730
4 KHDC3L NM_001017361.3(KHDC3L):c.299_302del (p.Ile100fs)deletion Pathogenic 157611 rs606231286 6:74072944-74072947 6:73363221-73363224
5 KHDC3L NM_001017361.3(KHDC3L):c.334C>T (p.Gln112Ter)SNV Likely pathogenic 208592 rs745776920 6:74072982-74072982 6:73363259-73363259

Expression for Hydatidiform Mole, Recurrent, 2

Search GEO for disease gene expression data for Hydatidiform Mole, Recurrent, 2.

Pathways for Hydatidiform Mole, Recurrent, 2

GO Terms for Hydatidiform Mole, Recurrent, 2

Sources for Hydatidiform Mole, Recurrent, 2

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68 SNOMED-CT via HPO
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72 UMLS via Orphanet
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