HYDM2
MCID: HYD041
MIFTS: 21

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 58 76 30 13 6 74
Hydm2 58 76
Mole, Hydatidiform, Recurrent, Type 2 41
Hydatidiform Mole, Complete 58
Hydatidiform Mole Complete 76

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive


HPO:

33
hydatidiform mole, recurrent, 2:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 58 614293
MeSH 45 D006828
SNOMED-CT via HPO 70 258211005
UMLS 74 C3280352

Summaries for Hydatidiform Mole, Recurrent, 2

OMIM : 58 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.

UniProtKB/Swiss-Prot : 76 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 11.5
2 gestational trophoblastic neoplasm 10.8
3 partial hydatidiform mole 10.1

Symptoms & Phenotypes for Hydatidiform Mole, Recurrent, 2

Symptoms via clinical synopsis from OMIM:

58
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 30 KHDC3L

Anatomical Context for Hydatidiform Mole, Recurrent, 2

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

42
Uterus

Publications for Hydatidiform Mole, Recurrent, 2

Articles related to Hydatidiform Mole, Recurrent, 2:

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

Variations for Hydatidiform Mole, Recurrent, 2

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 KHDC3L NM_001017361.2(KHDC3L): c.3G> T (p.Met1Ile) single nucleotide variant Pathogenic rs606231233 GRCh38 Chromosome 6, 73362732: 73362732
2 KHDC3L NM_001017361.2(KHDC3L): c.3G> T (p.Met1Ile) single nucleotide variant Pathogenic rs606231233 GRCh37 Chromosome 6, 74072455: 74072455
3 KHDC3L NM_001017361.2(KHDC3L): c.322_325delGACT (p.Asp108Ilefs) deletion Pathogenic rs606231234 GRCh38 Chromosome 6, 73363247: 73363250
4 KHDC3L NM_001017361.2(KHDC3L): c.322_325delGACT (p.Asp108Ilefs) deletion Pathogenic rs606231234 GRCh37 Chromosome 6, 74072970: 74072973
5 KHDC3L NM_001017361.2(KHDC3L): c.1A> G (p.Met1Val) single nucleotide variant Pathogenic rs606231235 GRCh38 Chromosome 6, 73362730: 73362730
6 KHDC3L NM_001017361.2(KHDC3L): c.1A> G (p.Met1Val) single nucleotide variant Pathogenic rs606231235 GRCh37 Chromosome 6, 74072453: 74072453
7 KHDC3L NM_001017361.2(KHDC3L): c.299_302delTCAA (p.Ile100Argfs) deletion Pathogenic rs606231286 GRCh38 Chromosome 6, 73363224: 73363227
8 KHDC3L NM_001017361.2(KHDC3L): c.299_302delTCAA (p.Ile100Argfs) deletion Pathogenic rs606231286 GRCh37 Chromosome 6, 74072947: 74072950
9 KHDC3L NM_001017361.2(KHDC3L): c.334C> T (p.Gln112Ter) single nucleotide variant Likely pathogenic rs745776920 GRCh37 Chromosome 6, 74072982: 74072982
10 KHDC3L NM_001017361.2(KHDC3L): c.334C> T (p.Gln112Ter) single nucleotide variant Likely pathogenic rs745776920 GRCh38 Chromosome 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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75 UMLS via Orphanet
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