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 ⁵⁷ ⁷⁵ ²⁹ ¹³ ⁶

Dih3 ⁵⁷ ⁷⁵

Hernia, Diaphragmatic, Type 3 ⁴⁰

Classifications:

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

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁷ 610187

MedGen ⁴² C1857781

SNOMED-CT via HPO ⁶⁹ 17190001

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Summaries for Diaphragmatic Hernia 3

UniProtKB/Swiss-Prot : ⁷⁵ 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). 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	9.3	ZFPM2 ZFPM2-AS1
2	double outlet right ventricle	9.2	ZFPM2 ZFPM2-AS1
3	tetralogy of fallot	9.0	ZFPM2 ZFPM2-AS1

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Symptoms & Phenotypes for Diaphragmatic Hernia 3

Clinical features from OMIM:

610187

Human phenotypes related to Diaphragmatic Hernia 3:

³²

#	Description	HPO Frequency	HPO Source Accession
1	congenital diaphragmatic hernia ³²		HP:0000776

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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 ²⁹	ZFPM2

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Anatomical Context for Diaphragmatic Hernia 3

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Publications for Diaphragmatic Hernia 3

Articles related to Diaphragmatic Hernia 3:

#	Title	Authors	Year
1	Recurrent diaphragmatic hernia 3 years after initial repair for traumatic diaphragmatic rupture: a case report. ( 21057446 )	Kitada M....Sasajima T.	2010

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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	1028	Molecular basis known ⁵⁷ Pathogenic ⁶ Genetic Tests ²⁹ GeneCards inferred via : Disorders Variants (show sections)	16103912 14517948 20807224 (more) 24702427
2	ZFPM2-AS1	ZFPM2 Antisense RNA 1	RNA Gene	8	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.334C> T (p.Arg112Ter)	single nucleotide variant	Pathogenic	rs121908602	GRCh37	Chromosome 8, 106573623: 106573623
2	ZFPM2	NM_012082.3(ZFPM2): c.334C> T (p.Arg112Ter)	single nucleotide variant	Pathogenic	rs121908602	GRCh38	Chromosome 8, 105561395: 105561395
3	ZFPM2	NM_012082.3(ZFPM2): c.2107A> C (p.Met703Leu)	single nucleotide variant	Pathogenic	rs121908603	GRCh37	Chromosome 8, 106814417: 106814417
4	ZFPM2	NM_012082.3(ZFPM2): c.2107A> C (p.Met703Leu)	single nucleotide variant	Pathogenic	rs121908603	GRCh38	Chromosome 8, 105802189: 105802189
5	ZFPM2	NM_012082.3(ZFPM2): c.2527A> G (p.Thr843Ala)	single nucleotide variant	Pathogenic	rs121908604	GRCh37	Chromosome 8, 106814837: 106814837
6	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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Sources for Diaphragmatic Hernia 3

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