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 ⁵⁶ ⁷³ ²⁹ ¹³ ⁶

Dih3 ⁵⁶ ⁷³

Hernia, Diaphragmatic, Type 3 ³⁹

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 ⁵⁶ 610187

MedGen ⁴¹ C1857781

SNOMED-CT via HPO ⁶⁸ 17190001

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Summaries for Diaphragmatic Hernia 3

UniProtKB/Swiss-Prot : ⁷³ 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 kidney, 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:

³¹

#	Description	HPO Frequency	HPO Source Accession
1	congenital diaphragmatic hernia ³¹		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:

⁴⁰

Lung, Kidney

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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. ⁵⁶ ⁶	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. ⁵⁶ ⁶	Bleyl SB...Slavotinek AM	17568391	2007
3	Fog2 is required for normal diaphragm and lung development in mice and humans. ⁵⁶ ⁶	Ackerman KG...Beier DR	16103912	2005
4	Novel ZFPM2/FOG2 variants in patients with double outlet right ventricle. ⁶	Tan ZP...Yang YF	21919901	2012
5	New mutations in ZFPM2/FOG2 gene in tetralogy of Fallot and double outlet right ventricle. ⁶	De Luca A...Dallapiccola B	20807224	2011
6	Genomic alterations that contribute to the development of isolated and non-isolated congenital diaphragmatic hernia. ⁵⁶	Wat MJ...Scott DA	21525063	2011
7	Mutations of ZFPM2/FOG2 gene in sporadic cases of tetralogy of Fallot. ⁶	Pizzuti A...Dallapiccola B	14517948	2003
8	Diaphragmatic herniae and translocations involving 8q22 in two patients. ⁵⁶	Temple IK...Burge D	7815446	1994
9	Surgical gastrointestinal anomalies including diaphragmatic hernia: Does type of anomaly affect neurodevelopmental outcome? ⁶¹	Bevilacqua F...Aite L	23616072	2014
10	Recurrent diaphragmatic hernia 3 years after initial repair for traumatic diaphragmatic rupture: a case report. ⁶¹	Kitada M...Sasajima T	21057446	2010
11	[Diaphragmatic hernia 3 years after the nephrectomy]. ⁶¹	Ishibe R...Sakamoto K	19522210	2009
12	Congenital lung malformations in the second trimester: prenatal ultrasound diagnosis and pathologic findings. ⁶¹	Harmath A...Papp Z	17373682	2007
13	Abdominal complications after lung transplantation. ⁶¹	Smith PC...Bolman RM	7727475	1995
14	Major surgical intervention during extracorporeal membrane oxygenation. ⁶¹	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. ⁶¹	Baumgart S...Spitzer AR	1741226	1992
16	Diagnosis of ruptured diaphragm following blunt trauma: results from 85 cases. ⁶¹	Smithers BM...Strong RW	1929972	1991
17	Prenatal ultrasonic diagnosis of fetal thoracic and intrathoracic abnormalities. ⁶¹	Meizner I...Insler V	3528048	1986
18	[Strangulated or impacted diaphragmatic hernias. Treatment of six cases (author's transl)]. ⁶¹	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	1017.92	Molecular basis known ⁵⁶ Pathogenic ⁶ Genetic Tests ²⁹ GeneCards inferred via : Disorders Variants (show sections)	16103912 21919901 20807224 (more) 24702427 14517948 17568391
2	ZFPM2-AS1	ZFPM2 Antisense RNA 1	RNA Gene	8.04	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	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	ZFPM2	NM_012082.4(ZFPM2):c.334C>T (p.Arg112Ter)	SNV	Pathogenic	6129	rs121908602	8:106573623-106573623	8:105561395-105561395
2	ZFPM2	NM_012082.4(ZFPM2):c.2527A>G (p.Thr843Ala)	SNV	Pathogenic	6131	rs121908604	8:106814837-106814837	8:105802609-105802609
3	ZFPM2	NM_012082.4(ZFPM2):c.130G>A (p.Glu44Lys)	SNV	Uncertain significance	633465	rs569356297	8:106431461-106431461	8:105419233-105419233
4	ZFPM2	NM_012082.4(ZFPM2):c.1168A>C (p.Lys390Gln)	SNV	Uncertain significance	633466	rs536096943	8:106813478-106813478	8:105801250-105801250
5	ZFPM2	NM_012082.4(ZFPM2):c.89A>G (p.Glu30Gly)	SNV	Likely benign	6128	rs121908601	8:106431420-106431420	8:105419192-105419192
6	ZFPM2	NM_012082.4(ZFPM2):c.2107A>C (p.Met703Leu)	SNV	Benign	6130	rs121908603	8:106814417-106814417	8:105802189-105802189

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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