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

Aliases & Classifications for Diaphragmatic Hernia 3

MalaCards integrated aliases for Diaphragmatic Hernia 3:

Name: Diaphragmatic Hernia 3 ⁵⁷ ⁷³ ²⁸ ¹² ⁵

Dih3 ⁵⁷ ⁷³

Hernia, Diaphragmatic, Type 3 ³⁸

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

OMIM Phenotypic Series ⁵⁷ PS142340

MedGen ⁴⁰ C1857781

SNOMED-CT via HPO ⁶⁹ 17190001

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Summaries for Diaphragmatic Hernia 3

UniProtKB/Swiss-Prot: ⁷³ 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 diaphragmatic hernia, congenital and enterocele. An important gene associated with Diaphragmatic Hernia 3 is ZFPM2 (Zinc Finger Protein, FOG Family Member 2). Affiliated tissues include trachea and lung, and related phenotype is congenital diaphragmatic hernia.

More information from OMIM: 610187 PS142340

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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	diaphragmatic hernia, congenital	10.1
2	enterocele	10.1
3	kidney cancer	10.0
4	46,xy sex reversal 9	9.6	ZFPM2-AS1 ZFPM2
5	double outlet right ventricle	9.6	ZFPM2-AS1 ZFPM2
6	tetralogy of fallot	9.5	ZFPM2-AS1 ZFPM2

Graphical network of the top 20 diseases related to Diaphragmatic Hernia 3:

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Symptoms & Phenotypes for Diaphragmatic Hernia 3

Human phenotypes related to Diaphragmatic Hernia 3:

³⁰

#	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	congenital diaphragmatic hernia ³⁰			HP:0000776

Clinical features from OMIM®:

610187 (Updated 08-Dec-2022)

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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 ²⁸	ZFPM2

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Anatomical Context for Diaphragmatic Hernia 3

Organs/tissues related to Diaphragmatic Hernia 3:

MalaCards : Trachea, Lung

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Publications for Diaphragmatic Hernia 3

Articles related to Diaphragmatic Hernia 3:

(show all 19)

#	Title	Authors	PMID	Year
1	Prevalence and penetrance of ZFPM2 mutations and deletions causing congenital diaphragmatic hernia. ⁵⁷ ⁵	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. ⁵⁷ ⁵	Bleyl SB...Slavotinek AM	17568391	2007
3	Fog2 is required for normal diaphragm and lung development in mice and humans. ⁵⁷ ⁵	Ackerman KG...Beier DR	16103912	2005
4	Novel ZFPM2/FOG2 variants in patients with double outlet right ventricle. ⁵	Tan ZP...Yang YF	21919901	2012
5	New mutations in ZFPM2/FOG2 gene in tetralogy of Fallot and double outlet right ventricle. ⁵	De Luca A...Dallapiccola B	20807224	2011
6	Genomic alterations that contribute to the development of isolated and non-isolated congenital diaphragmatic hernia. ⁵⁷	Wat MJ...Scott DA	21525063	2011
7	Mutations of ZFPM2/FOG2 gene in sporadic cases of tetralogy of Fallot. ⁵	Pizzuti A...Dallapiccola B	14517948	2003
8	Diaphragmatic herniae and translocations involving 8q22 in two patients. ⁵⁷	Temple IK...Burge D	7815446	1994
9	Replacement of a 5-cm Intrathoracic Trachea With a Tissue-Engineered Prosthesis in a Canine Model. ⁶²	Ueda Y...Date H	34186094	2022
10	Surgical gastrointestinal anomalies including diaphragmatic hernia: Does type of anomaly affect neurodevelopmental outcome? ⁶²	Bevilacqua F...Aite L	23616072	2014
11	Recurrent diaphragmatic hernia 3 years after initial repair for traumatic diaphragmatic rupture: a case report. ⁶²	Kitada M...Sasajima T	21057446	2010
12	[Diaphragmatic hernia 3 years after the nephrectomy]. ⁶²	Ishibe R...Sakamoto K	19522210	2009
13	Congenital lung malformations in the second trimester: prenatal ultrasound diagnosis and pathologic findings. ⁶²	Harmath A...Papp Z	17373682	2007
14	Abdominal complications after lung transplantation. ⁶²	Smith PC...Bolman RM	7727475	1995
15	Major surgical intervention during extracorporeal membrane oxygenation. ⁶²	Atkinson JB...Humphries B	1432528	1992
16	Diagnosis-related criteria in the consideration of extracorporeal membrane oxygenation in neonates previously treated with high-frequency jet ventilation. ⁶²	Baumgart S...Spitzer AR	1741226	1992
17	Diagnosis of ruptured diaphragm following blunt trauma: results from 85 cases. ⁶²	Smithers BM...Strong RW	1929972	1991
18	Prenatal ultrasonic diagnosis of fetal thoracic and intrathoracic abnormalities. ⁶²	Meizner I...Insler V	3528048	1986
19	[Strangulated or impacted diaphragmatic hernias. Treatment of six cases (author's transl)]. ⁶²	Couraud L...Zimmermann JM	219506	1978

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Genes for Diaphragmatic Hernia 3

Genes related to Diaphragmatic Hernia 3 (2 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	ZFPM2	Zinc Finger Protein, FOG Family Member 2	Protein Coding	1007.85	Molecular basis known ⁵⁷ Pathogenic ⁵ Genetic Tests ²⁸ GeneCards inferred via : Disorders (show sections)	14517948 16103912 17568391 (more) 20807224 24702427
2	ZFPM2-AS1	ZFPM2 Antisense RNA 1	RNA Gene	400	Pathogenic ⁵	17568391

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Variations for Diaphragmatic Hernia 3

ClinVar genetic disease variations for Diaphragmatic Hernia 3:

⁵

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	ZFPM2	NM_012082.4(ZFPM2):c.334C>T (p.Arg112Ter)	SNV	Pathogenic	6129	rs121908602	GRCh37: 8:106573623-106573623 GRCh38: 8:105561395-105561395
2	ZFPM2-AS1, ZFPM2	NM_012082.4(ZFPM2):c.2527A>G (p.Thr843Ala)	SNV	Pathogenic	6131	rs121908604	GRCh37: 8:106814837-106814837 GRCh38: 8:105802609-105802609
3	ZFPM2-AS1, ZFPM2	NM_012082.4(ZFPM2):c.757_761dup (p.Cys255fs)	DUP	Pathogenic	987903	rs1813907455	GRCh37: 8:106810967-106810968 GRCh38: 8:105798739-105798740
4	ZFPM2-AS1, ZFPM2	NM_012082.4(ZFPM2):c.1396_1399dup (p.Tyr467fs)	DUP	Pathogenic	987904	rs1814012663	GRCh37: 8:106813703-106813704 GRCh38: 8:105801475-105801476
5	ZFPM2	NM_012082.4(ZFPM2):c.89A>G (p.Glu30Gly)	SNV	Pathogenic	6128	rs121908601	GRCh37: 8:106431420-106431420 GRCh38: 8:105419192-105419192
6	ZFPM2	NM_012082.4(ZFPM2):c.349C>T (p.Arg117Ter)	SNV	Pathogenic	1706571		GRCh37: 8:106573638-106573638 GRCh38: 8:105561410-105561410
7	ZFPM2-AS1, ZFPM2	NM_012082.4(ZFPM2):c.2107A>C (p.Met703Leu)	SNV	Conflicting Interpretations Of Pathogenicity	6130	rs121908603	GRCh37: 8:106814417-106814417 GRCh38: 8:105802189-105802189
8	ZFPM2	NM_012082.4(ZFPM2):c.130G>A (p.Glu44Lys)	SNV	Uncertain Significance	633465	rs569356297	GRCh37: 8:106431461-106431461 GRCh38: 8:105419233-105419233
9	ZFPM2-AS1, ZFPM2	NM_012082.4(ZFPM2):c.1168A>C (p.Lys390Gln)	SNV	Uncertain Significance	633466	rs536096943	GRCh37: 8:106813478-106813478 GRCh38: 8:105801250-105801250
10	ZFPM2-AS1, ZFPM2	NM_012082.4(ZFPM2):c.3335G>A (p.Ser1112Asn)	SNV	Uncertain Significance	982981	rs763181942	GRCh37: 8:106815645-106815645 GRCh38: 8:105803417-105803417

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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

¹ BitterDB

² CDC

³ Cell Signaling Technology

⁴ ClinicalTrials

⁵ ClinVar

⁶ CNVD

⁷ Cochrane Library

⁸ Cosmic

⁹ dbSNP

¹⁰ DGIdb

¹¹ Disease Ontology

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¹⁵ DrugBank

¹⁶ EFO

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¹⁸ FMA

¹⁹ GARD

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ GenomeRNAi

²⁶ GEO DataSets

²⁷ GO

²⁸ GTR

²⁹ HMDB

³⁰ HPO

³¹ ICD10

³² ICD10 via Orphanet

³³ ICD11

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ LifeMap

³⁷ LncRNADisease

³⁸ LOVD

³⁹ MalaCards

⁴⁰ MedGen

⁴¹ MedlinePlus

⁴² MedlinePlus Genetics

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NINDS

⁵³ Novoseek

⁵⁴ Novus Biologicals

⁵⁵ ODiseA

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 08-Dec-2022)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubChem

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ WikiPathways

⁷⁵ Wikipedia

DIH3 MCID: DPH016 MIFTS: 24	Diaphragmatic Hernia 3 (DIH3) Categories: Fetal diseases, Gastrointestinal diseases, Genetic diseases, Muscle diseases, Rare diseases, Respiratory diseases	Data Licensing For inquiries, contact: [email protected]
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Expand all tables

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:

Graphical network of the top 20 diseases related to Diaphragmatic Hernia 3:

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

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 (2 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