DIH3
MCID: DPH016
MIFTS: 22

Diaphragmatic Hernia 3 (DIH3)

Categories: Fetal diseases, Gastrointestinal diseases, Genetic diseases, Muscle diseases, Rare diseases, Respiratory diseases

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:



External Ids:

OMIM 57 610187
MedGen 42 C1857781

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

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

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

Drugs & Therapeutics for Diaphragmatic Hernia 3

Search Clinical Trials , NIH Clinical Center for Diaphragmatic Hernia 3

Genetic Tests for Diaphragmatic Hernia 3

Genetic tests related to Diaphragmatic Hernia 3:

# Genetic test Affiliating Genes
1 Diaphragmatic Hernia 3 29 ZFPM2

Anatomical Context for Diaphragmatic Hernia 3

MalaCards organs/tissues related to Diaphragmatic Hernia 3:

41
Lung

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
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
17568391 2007
3
Fog2 is required for normal diaphragm and lung development in mice and humans. 8 71
16103912 2005
4
Novel ZFPM2/FOG2 variants in patients with double outlet right ventricle. 71
21919901 2012
5
New mutations in ZFPM2/FOG2 gene in tetralogy of Fallot and double outlet right ventricle. 71
20807224 2011
6
Genomic alterations that contribute to the development of isolated and non-isolated congenital diaphragmatic hernia. 8
21525063 2011
7
Mutations of ZFPM2/FOG2 gene in sporadic cases of tetralogy of Fallot. 71
14517948 2003
8
Diaphragmatic herniae and translocations involving 8q22 in two patients. 8
7815446 1994
9
Surgical gastrointestinal anomalies including diaphragmatic hernia: Does type of anomaly affect neurodevelopmental outcome? 38
23616072 2014
10
Recurrent diaphragmatic hernia 3 years after initial repair for traumatic diaphragmatic rupture: a case report. 38
21057446 2010
11
[Diaphragmatic hernia 3 years after the nephrectomy]. 38
19522210 2009
12
Congenital lung malformations in the second trimester: prenatal ultrasound diagnosis and pathologic findings. 38
17373682 2007
13
Abdominal complications after lung transplantation. 38
7727475 1995
14
Major surgical intervention during extracorporeal membrane oxygenation. 38
1432528 1992
15
Diagnosis-related criteria in the consideration of extracorporeal membrane oxygenation in neonates previously treated with high-frequency jet ventilation. 38
1741226 1992
16
Diagnosis of ruptured diaphragm following blunt trauma: results from 85 cases. 38
1929972 1991
17
Prenatal ultrasonic diagnosis of fetal thoracic and intrathoracic abnormalities. 38
3528048 1986
18
[Strangulated or impacted diaphragmatic hernias. Treatment of six cases (author's transl)]. 38
219506 1978

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

Expression for Diaphragmatic Hernia 3

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

Pathways for Diaphragmatic Hernia 3

GO Terms for Diaphragmatic Hernia 3

Sources for Diaphragmatic Hernia 3

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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