DIH3
MCID: DPH016
MIFTS: 24

Diaphragmatic Hernia 3 (DIH3)

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



External Ids:

OMIM® 57 610187
OMIM Phenotypic Series 57 PS142340
MedGen 40 C1857781
SNOMED-CT via HPO 69 17190001

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

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:



Diseases related to Diaphragmatic Hernia 3

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)

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 28 ZFPM2

Anatomical Context for Diaphragmatic Hernia 3

Organs/tissues related to Diaphragmatic Hernia 3:

MalaCards : Trachea, Lung

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
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
17568391 2007
3
Fog2 is required for normal diaphragm and lung development in mice and humans. 57 5
16103912 2005
4
Novel ZFPM2/FOG2 variants in patients with double outlet right ventricle. 5
21919901 2012
5
New mutations in ZFPM2/FOG2 gene in tetralogy of Fallot and double outlet right ventricle. 5
20807224 2011
6
Genomic alterations that contribute to the development of isolated and non-isolated congenital diaphragmatic hernia. 57
21525063 2011
7
Mutations of ZFPM2/FOG2 gene in sporadic cases of tetralogy of Fallot. 5
14517948 2003
8
Diaphragmatic herniae and translocations involving 8q22 in two patients. 57
7815446 1994
9
Replacement of a 5-cm Intrathoracic Trachea With a Tissue-Engineered Prosthesis in a Canine Model. 62
34186094 2022
10
Surgical gastrointestinal anomalies including diaphragmatic hernia: Does type of anomaly affect neurodevelopmental outcome? 62
23616072 2014
11
Recurrent diaphragmatic hernia 3 years after initial repair for traumatic diaphragmatic rupture: a case report. 62
21057446 2010
12
[Diaphragmatic hernia 3 years after the nephrectomy]. 62
19522210 2009
13
Congenital lung malformations in the second trimester: prenatal ultrasound diagnosis and pathologic findings. 62
17373682 2007
14
Abdominal complications after lung transplantation. 62
7727475 1995
15
Major surgical intervention during extracorporeal membrane oxygenation. 62
1432528 1992
16
Diagnosis-related criteria in the consideration of extracorporeal membrane oxygenation in neonates previously treated with high-frequency jet ventilation. 62
1741226 1992
17
Diagnosis of ruptured diaphragm following blunt trauma: results from 85 cases. 62
1929972 1991
18
Prenatal ultrasonic diagnosis of fetal thoracic and intrathoracic abnormalities. 62
3528048 1986
19
[Strangulated or impacted diaphragmatic hernias. Treatment of six cases (author's transl)]. 62
219506 1978

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

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

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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