Diaphragmatic Hernia 3 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Diaphragmatic Hernia 3

MalaCards integrated aliases for Diaphragmatic Hernia 3:

Name: Diaphragmatic Hernia 3 ⁵⁸ ⁷⁶ ³⁰ ¹³ ⁶

Dih3 ⁵⁸ ⁷⁶

Hernia, Diaphragmatic, Type 3 ⁴¹

Classifications:

MalaCards categories:
Global: Genetic diseases Fetal diseases Rare diseases
Anatomical: Gastrointestinal diseases Respiratory diseases Muscle diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁸ 610187

MedGen ⁴³ C1857781

SNOMED-CT via HPO ⁷⁰ 17190001

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Summaries for Diaphragmatic Hernia 3

UniProtKB/Swiss-Prot : ⁷⁶ Diaphragmatic hernia 3: Form of congenital diaphragmatic hernia (CDH). CDH refers to a group of congenital defects in the structural integrity of the diaphragm associated with often lethal pulmonary hypoplasia and pulmonary hypertension.

MalaCards based summary : Diaphragmatic Hernia 3, also known as dih3, is related to 46,xy sex reversal 9 and double outlet right ventricle. An important gene associated with Diaphragmatic Hernia 3 is ZFPM2 (Zinc Finger Protein, FOG Family Member 2). Affiliated tissues include lung, and related phenotype is congenital diaphragmatic hernia.

Description from OMIM: 610187

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Related Diseases for Diaphragmatic Hernia 3

Diseases in the Hernia, Anterior Diaphragmatic family:

Diaphragmatic Hernia, Congenital	Diaphragmatic Hernia 2
Diaphragmatic Hernia 3

Diseases related to Diaphragmatic Hernia 3 via text searches within MalaCards or GeneCards Suite gene sharing:

#	Related Disease	Score	Top Affiliating Genes
1	46,xy sex reversal 9	9.7	ZFPM2 ZFPM2-AS1
2	double outlet right ventricle	9.6	ZFPM2 ZFPM2-AS1
3	tetralogy of fallot	9.5	ZFPM2 ZFPM2-AS1

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Symptoms & Phenotypes for Diaphragmatic Hernia 3

Human phenotypes related to Diaphragmatic Hernia 3:

³³

#	Description	HPO Frequency	HPO Source Accession
1	congenital diaphragmatic hernia ³³		HP:0000776

Clinical features from OMIM:

610187

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Drugs & Therapeutics for Diaphragmatic Hernia 3

Search Clinical Trials , NIH Clinical Center for Diaphragmatic Hernia 3

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Genetic Tests for Diaphragmatic Hernia 3

Genetic tests related to Diaphragmatic Hernia 3:

#	Genetic test	Affiliating Genes
1	Diaphragmatic Hernia 3 ³⁰	ZFPM2

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Anatomical Context for Diaphragmatic Hernia 3

MalaCards organs/tissues related to Diaphragmatic Hernia 3:

⁴²

Lung

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Publications for Diaphragmatic Hernia 3

Articles related to Diaphragmatic Hernia 3:

#	Title	Authors	Year
1	Prevalence and penetrance of ZFPM2 mutations and deletions causing congenital diaphragmatic hernia. ( 24702427 )	Longoni M...Donahoe PK	2015
2	Novel ZFPM2/FOG2 variants in patients with double outlet right ventricle. ( 21919901 )	Tan ZP...Yang YF	2012
3	New mutations in ZFPM2/FOG2 gene in tetralogy of Fallot and double outlet right ventricle. ( 20807224 )	De Luca A...Dallapiccola B	2011
4	Recurrent diaphragmatic hernia 3 years after initial repair for traumatic diaphragmatic rupture: a case report. ( 21057446 )	Kitada M...Sasajima T	2010
5	Candidate genes for congenital diaphragmatic hernia from animal models: sequencing of FOG2 and PDGFRalpha reveals rare variants in diaphragmatic hernia patients. ( 17568391 )	Bleyl SB...Slavotinek AM	2007
6	Fog2 is required for normal diaphragm and lung development in mice and humans. ( 16103912 )	Ackerman KG...Beier DR	2005
7	Mutations of ZFPM2/FOG2 gene in sporadic cases of tetralogy of Fallot. ( 14517948 )	Pizzuti A...Dallapiccola B	2003

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Genes for Diaphragmatic Hernia 3

Genes related to Diaphragmatic Hernia 3 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	ZFPM2	Zinc Finger Protein, FOG Family Member 2	Protein Coding	1027.82	Molecular basis known ⁵⁸ Pathogenic ⁶ Genetic Tests ³⁰ GeneCards inferred via : Disorders Variants (show sections)	16103912 14517948 20807224 (more) 24702427
2	ZFPM2-AS1	ZFPM2 Antisense RNA 1	RNA Gene	7.91	GeneCards inferred via : Variants (show sections)

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Variations for Diaphragmatic Hernia 3

ClinVar genetic disease variations for Diaphragmatic Hernia 3:

⁶

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	ZFPM2	NM_012082.3(ZFPM2): c.89A> G (p.Glu30Gly)	single nucleotide variant	Likely benign	rs121908601	GRCh37	Chromosome 8, 106431420: 106431420
2	ZFPM2	NM_012082.3(ZFPM2): c.89A> G (p.Glu30Gly)	single nucleotide variant	Likely benign	rs121908601	GRCh38	Chromosome 8, 105419192: 105419192
3	ZFPM2	NM_012082.3(ZFPM2): c.334C> T (p.Arg112Ter)	single nucleotide variant	Pathogenic	rs121908602	GRCh37	Chromosome 8, 106573623: 106573623
4	ZFPM2	NM_012082.3(ZFPM2): c.334C> T (p.Arg112Ter)	single nucleotide variant	Pathogenic	rs121908602	GRCh38	Chromosome 8, 105561395: 105561395
5	ZFPM2	NM_012082.3(ZFPM2): c.2107A> C (p.Met703Leu)	single nucleotide variant	Pathogenic	rs121908603	GRCh37	Chromosome 8, 106814417: 106814417
6	ZFPM2	NM_012082.3(ZFPM2): c.2107A> C (p.Met703Leu)	single nucleotide variant	Pathogenic	rs121908603	GRCh38	Chromosome 8, 105802189: 105802189
7	ZFPM2	NM_012082.3(ZFPM2): c.2527A> G (p.Thr843Ala)	single nucleotide variant	Pathogenic	rs121908604	GRCh37	Chromosome 8, 106814837: 106814837
8	ZFPM2	NM_012082.3(ZFPM2): c.2527A> G (p.Thr843Ala)	single nucleotide variant	Pathogenic	rs121908604	GRCh38	Chromosome 8, 105802609: 105802609

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Expression for Diaphragmatic Hernia 3

Search GEO for disease gene expression data for Diaphragmatic Hernia 3.

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Pathways for Diaphragmatic Hernia 3

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GO Terms for Diaphragmatic Hernia 3

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Diaphragmatic Hernia 3 (DIH3)

Aliases & Classifications for Diaphragmatic Hernia 3

MalaCards integrated aliases for Diaphragmatic Hernia 3:

Classifications:

External Ids:

Summaries for Diaphragmatic Hernia 3

Related Diseases for Diaphragmatic Hernia 3

Diseases in the Hernia, Anterior Diaphragmatic family:

Diseases related to Diaphragmatic Hernia 3 via text searches within MalaCards or GeneCards Suite gene sharing:

Symptoms & Phenotypes for Diaphragmatic Hernia 3

Human phenotypes related to Diaphragmatic Hernia 3:

Clinical features from OMIM:

Drugs & Therapeutics for Diaphragmatic Hernia 3

Genetic Tests for Diaphragmatic Hernia 3

Genetic tests related to Diaphragmatic Hernia 3:

Anatomical Context for Diaphragmatic Hernia 3

MalaCards organs/tissues related to Diaphragmatic Hernia 3:

Publications for Diaphragmatic Hernia 3

Articles related to Diaphragmatic Hernia 3:

Genes for Diaphragmatic Hernia 3

Genes related to Diaphragmatic Hernia 3 (1 elite genes):

Variations for Diaphragmatic Hernia 3

ClinVar genetic disease variations for Diaphragmatic Hernia 3:

Expression for Diaphragmatic Hernia 3

Pathways for Diaphragmatic Hernia 3

GO Terms for Diaphragmatic Hernia 3

Sources for Diaphragmatic Hernia 3