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 ⁷⁴ ²⁹ ¹³ ⁶

Dih3 ⁵⁷ ⁷⁴

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

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Summaries for Diaphragmatic Hernia 3

UniProtKB/Swiss-Prot : ⁷⁴ 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 kidney cancer and 46,xy sex reversal 9. 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.

More information 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	kidney cancer	9.9
2	46,xy sex reversal 9	9.5	ZFPM2-AS1 ZFPM2
3	double outlet right ventricle	9.4	ZFPM2-AS1 ZFPM2
4	tetralogy of fallot	9.2	ZFPM2-AS1 ZFPM2

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Symptoms & Phenotypes for Diaphragmatic Hernia 3

Human phenotypes related to Diaphragmatic Hernia 3:

³²

#	Description	HPO Frequency	HPO Source Accession
1	congenital diaphragmatic hernia ³²		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 ²⁹	ZFPM2

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Anatomical Context for Diaphragmatic Hernia 3

MalaCards organs/tissues related to Diaphragmatic Hernia 3:

⁴¹

Lung

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Publications for Diaphragmatic Hernia 3

Articles related to Diaphragmatic Hernia 3:

(show all 18)

#	Title	Authors	PMID	Year
1	Prevalence and penetrance of ZFPM2 mutations and deletions causing congenital diaphragmatic hernia. ⁸ ⁷¹	Longoni M...Donahoe PK	24702427	2015
2	Candidate genes for congenital diaphragmatic hernia from animal models: sequencing of FOG2 and PDGFRalpha reveals rare variants in diaphragmatic hernia patients. ⁸ ⁷¹	Bleyl SB...Slavotinek AM	17568391	2007
3	Fog2 is required for normal diaphragm and lung development in mice and humans. ⁸ ⁷¹	Ackerman KG...Beier DR	16103912	2005
4	Novel ZFPM2/FOG2 variants in patients with double outlet right ventricle. ⁷¹	Tan ZP...Yang YF	21919901	2012
5	New mutations in ZFPM2/FOG2 gene in tetralogy of Fallot and double outlet right ventricle. ⁷¹	De Luca A...Dallapiccola B	20807224	2011
6	Genomic alterations that contribute to the development of isolated and non-isolated congenital diaphragmatic hernia. ⁸	Wat MJ...Scott DA	21525063	2011
7	Mutations of ZFPM2/FOG2 gene in sporadic cases of tetralogy of Fallot. ⁷¹	Pizzuti A...Dallapiccola B	14517948	2003
8	Diaphragmatic herniae and translocations involving 8q22 in two patients. ⁸	Temple IK...Burge D	7815446	1994
9	Surgical gastrointestinal anomalies including diaphragmatic hernia: Does type of anomaly affect neurodevelopmental outcome? ³⁸	Bevilacqua F...Aite L	23616072	2014
10	Recurrent diaphragmatic hernia 3 years after initial repair for traumatic diaphragmatic rupture: a case report. ³⁸	Kitada M...Sasajima T	21057446	2010
11	[Diaphragmatic hernia 3 years after the nephrectomy]. ³⁸	Ishibe R...Sakamoto K	19522210	2009
12	Congenital lung malformations in the second trimester: prenatal ultrasound diagnosis and pathologic findings. ³⁸	Harmath A...Papp Z	17373682	2007
13	Abdominal complications after lung transplantation. ³⁸	Smith PC...Bolman RM	7727475	1995
14	Major surgical intervention during extracorporeal membrane oxygenation. ³⁸	Atkinson JB...Humphries B	1432528	1992
15	Diagnosis-related criteria in the consideration of extracorporeal membrane oxygenation in neonates previously treated with high-frequency jet ventilation. ³⁸	Baumgart S...Spitzer AR	1741226	1992
16	Diagnosis of ruptured diaphragm following blunt trauma: results from 85 cases. ³⁸	Smithers BM...Strong RW	1929972	1991
17	Prenatal ultrasonic diagnosis of fetal thoracic and intrathoracic abnormalities. ³⁸	Meizner I...Insler V	3528048	1986
18	[Strangulated or impacted diaphragmatic hernias. Treatment of six cases (author's transl)]. ³⁸	Couraud L...Zimmermann JM	219506	1978

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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	1027.94	Molecular basis known ⁵⁷ Pathogenic ⁶ Genetic Tests ²⁹ GeneCards inferred via : Disorders Variants (show sections)	24702427 16103912 20807224 (more) 14517948
2	ZFPM2-AS1	ZFPM2 Antisense RNA 1	RNA Gene	8.05	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	GRCh37 Pos	GRCh38 Pos
1	ZFPM2	NM_012082.4(ZFPM2): c.334C> T (p.Arg112Ter)	single nucleotide variant	Pathogenic	rs121908602	8:106573623-106573623	8:105561395-105561395
2	ZFPM2	NM_012082.4(ZFPM2): c.2107A> C (p.Met703Leu)	single nucleotide variant	Pathogenic	rs121908603	8:106814417-106814417	8:105802189-105802189
3	ZFPM2	NM_012082.4(ZFPM2): c.2527A> G (p.Thr843Ala)	single nucleotide variant	Pathogenic	rs121908604	8:106814837-106814837	8:105802609-105802609
4	ZFPM2	NM_012082.4(ZFPM2): c.130G> A (p.Glu44Lys)	single nucleotide variant	Uncertain significance		8:106431461-106431461	8:105419233-105419233
5	ZFPM2	NM_012082.4(ZFPM2): c.1168A> C (p.Lys390Gln)	single nucleotide variant	Uncertain significance		8:106813478-106813478	8:105801250-105801250
6	ZFPM2	NM_012082.4(ZFPM2): c.89A> G (p.Glu30Gly)	single nucleotide variant	Likely benign	rs121908601	8:106431420-106431420	8:105419192-105419192

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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