Hydatidiform Mole, Recurrent, 2 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Hydatidiform Mole, Recurrent, 2

MalaCards integrated aliases for Hydatidiform Mole, Recurrent, 2:

Name: Hydatidiform Mole, Recurrent, 2 ⁵⁷ ⁷³ ²⁹ ¹³ ⁶ ⁷¹

Hydm2 ⁵⁷ ⁷³

Mole, Hydatidiform, Recurrent, Type 2 ³⁹

Hydatidiform Mole, Complete ⁵⁷

Hydatidiform Mole Complete ⁷³

Characteristics:

OMIM®:

⁵⁷ (Updated 05-Mar-2021)

Inheritance:
autosomal recessive

HPO:

³¹

hydatidiform mole, recurrent, 2:
Inheritance autosomal recessive inheritance

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Cancer diseases
Anatomical: Reproductive diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM® ⁵⁷ 614293

OMIM Phenotypic Series ⁵⁷ PS231090

MeSH ⁴⁴ D006828

MedGen ⁴¹ C0678213 C3280352

SNOMED-CT via HPO ⁶⁸ 258211005

UMLS ⁷¹ C3280352

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Summaries for Hydatidiform Mole, Recurrent, 2

OMIM® : ⁵⁷ 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) (Updated 05-Mar-2021)

MalaCards based summary : Hydatidiform Mole, Recurrent, 2, also known as hydm2, is related to hydatidiform mole, recurrent, 1. 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.

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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	11.4

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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®:

⁵⁷ (Updated 05-Mar-2021)

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

Clinical features from OMIM®:

614293 (Updated 05-Mar-2021)

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Drugs & Therapeutics for Hydatidiform Mole, Recurrent, 2

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

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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

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Anatomical Context for Hydatidiform Mole, Recurrent, 2

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

⁴⁰

Uterus

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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. ⁵⁷ ⁶	Reddy R...Slim R	23232697	2013
2	Mutations in NLRP7 and KHDC3L confer a complete hydatidiform mole phenotype on digynic triploid conceptions. ⁵⁷ ⁶	Fallahian M...Fisher RA	23125094	2013
3	Mutations causing familial biparental hydatidiform mole implicate c6orf221 as a possible regulator of genomic imprinting in the human oocyte. ⁵⁷ ⁶	Parry DA...Sheridan EG	21885028	2011
4	Screening for NLRP7 mutations in familial and sporadic recurrent hydatidiform moles: report of 2 Tunisian families. ⁵⁷ ⁶	Landolsi H...Yacoubi MT	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 ⁵⁷	Wang CM...Fisher RA	19246479	2009
6	A global disorder of imprinting in the human female germ line. ⁶ ⁵⁷	Judson H...Bonthron DT	11932746	2002
7	Clinical and genetic-epignetic aspects of recurrent hydatidiform mole: A review of literature. ⁶¹	Moein-Vaziri N...Anvar Z	29458875	2018

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Genes for Hydatidiform Mole, Recurrent, 2

Genes related to Hydatidiform Mole, Recurrent, 2 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	KHDC3L	KH Domain Containing 3 Like, Subcortical Maternal Complex Member	Protein Coding	1042.91	Molecular basis known ⁵⁷ Pathogenic ⁶ Genetic Tests ²⁹ Likely pathogenic ⁶ GeneCards inferred via : Disorders Variants (show sections)	11932746 21885028

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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

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Expression for Hydatidiform Mole, Recurrent, 2

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

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Pathways for Hydatidiform Mole, Recurrent, 2

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GO Terms for Hydatidiform Mole, Recurrent, 2

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Sources for Hydatidiform Mole, Recurrent, 2

¹ BioSystems

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³³ ICD10 via Orphanet

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³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

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⁴⁰ MalaCards

⁴¹ MedGen

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⁵² NIH Clinical Center

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 05-Mar-2021)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

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⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ TGDB

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia

Hydatidiform Mole, Recurrent, 2 (HYDM2)

Aliases & Classifications for Hydatidiform Mole, Recurrent, 2

MalaCards integrated aliases for Hydatidiform Mole, Recurrent, 2:

Characteristics:

OMIM®:

HPO:

Classifications:

External Ids:

Summaries for Hydatidiform Mole, Recurrent, 2

Related Diseases for Hydatidiform Mole, Recurrent, 2

Diseases in the Recurrent Hydatidiform Mole family:

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

Symptoms & Phenotypes for Hydatidiform Mole, Recurrent, 2

Human phenotypes related to Hydatidiform Mole, Recurrent, 2:

Symptoms via clinical synopsis from OMIM®:

Clinical features from OMIM®:

Drugs & Therapeutics for Hydatidiform Mole, Recurrent, 2

Genetic Tests for Hydatidiform Mole, Recurrent, 2

Genetic tests related to Hydatidiform Mole, Recurrent, 2:

Anatomical Context for Hydatidiform Mole, Recurrent, 2

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

Publications for Hydatidiform Mole, Recurrent, 2

Articles related to Hydatidiform Mole, Recurrent, 2:

Genes for Hydatidiform Mole, Recurrent, 2

Genes related to Hydatidiform Mole, Recurrent, 2 (1 elite genes):

Variations for Hydatidiform Mole, Recurrent, 2

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

Expression for Hydatidiform Mole, Recurrent, 2

Pathways for Hydatidiform Mole, Recurrent, 2

GO Terms for Hydatidiform Mole, Recurrent, 2

Sources for Hydatidiform Mole, Recurrent, 2