DIH2
MCID: DPH025
MIFTS: 17

Diaphragmatic Hernia 2 (DIH2)

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

Aliases & Classifications for Diaphragmatic Hernia 2

MalaCards integrated aliases for Diaphragmatic Hernia 2:

Name: Diaphragmatic Hernia 2 57 29
Hernia, Congenital Diaphragmatic 2 57 13
Hernia, Diaphragmatic, Type 2 39
Dih2 57

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive vs. multifactorial


HPO:

31
diaphragmatic hernia 2:
Inheritance autosomal recessive inheritance multifactorial inheritance


Classifications:



External Ids:

OMIM® 57 222400
MedGen 41 C1857284

Summaries for Diaphragmatic Hernia 2

MalaCards based summary : Diaphragmatic Hernia 2, is also known as hernia, congenital diaphragmatic 2. An important gene associated with Diaphragmatic Hernia 2 is DIH2 (Hernia, Congenital Diaphragmatic 2). Affiliated tissues include lung, and related phenotypes are congenital diaphragmatic hernia and agenesis of the diaphragm

More information from OMIM: 222400

Related Diseases for Diaphragmatic Hernia 2

Symptoms & Phenotypes for Diaphragmatic Hernia 2

Human phenotypes related to Diaphragmatic Hernia 2:

31
# Description HPO Frequency HPO Source Accession
1 congenital diaphragmatic hernia 31 HP:0000776
2 agenesis of the diaphragm 31 HP:0008986

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Muscle:
agenesis of the diaphragm

Clinical features from OMIM®:

222400 (Updated 05-Apr-2021)

Drugs & Therapeutics for Diaphragmatic Hernia 2

Search Clinical Trials , NIH Clinical Center for Diaphragmatic Hernia 2

Genetic Tests for Diaphragmatic Hernia 2

Genetic tests related to Diaphragmatic Hernia 2:

# Genetic test Affiliating Genes
1 Diaphragmatic Hernia 2 29

Anatomical Context for Diaphragmatic Hernia 2

MalaCards organs/tissues related to Diaphragmatic Hernia 2:

40
Lung

Publications for Diaphragmatic Hernia 2

Articles related to Diaphragmatic Hernia 2:

(show all 19)
# Title Authors PMID Year
1
Fryns syndrome phenotype caused by chromosome microdeletions at 15q26.2 and 8p23.1. 57
16141010 2005
2
Molecular characterization of del(8)(p23.1p23.1) in a case of congenital diaphragmatic hernia. 57
15937941 2005
3
Congenital diaphragmatic hernia and chromosomal anomalies: autopsy study. 57
15255033 2004
4
Prenatal diagnosis of an 8p23.1 deletion in a fetus with a diaphragmatic hernia and review of the literature. 57
9826897 1998
5
Deficiency of distal 8p--report of two cases and review of the literature. 57
2190718 1990
6
Growth patterns and associated risk factors of congenital malformations in twins. 61
32448339 2020
7
[Massive Morgagni Hernia as a Reason for Lung Function Impairment]. 61
28841740 2018
8
Assessment of paediatric thoracic robotic surgery. 61
25476460 2015
9
[Diaphragmatic hernia complicated with diaphragmatic resection by automatic stapling device]. 61
25292370 2014
10
Diaphragmatic hernia following coronary artery bypass surgery with the right gastroepiploic artery: case report and literature review. 61
22566251 2012
11
Extra-cardiac findings on coronary computed tomography scanning. 61
19070293 2008
12
Volume contrast imaging: A new approach to identify fetal thoracic structures. 61
15055788 2004
13
[Traumatic diaphragmatic hernia. 2 case reports and review of the literature]. 61
14768323 2000
14
ECMO in evolution: the impact of changing patient demographics and alternative therapies on ECMO. 61
8863246 1996
15
Complications of neonatal extracorporeal membrane oxygenation. Collective experience from the Extracorporeal Life Support Organization. 61
8127113 1994
16
Clinical responses to prolonged treatment of persistent pulmonary hypertension of the newborn with low doses of inhaled nitric oxide. 61
8320602 1993
17
Surgical repair of pectus excavatum. 61
3204460 1988
18
Delineation of the male phenotype in carniofrontonasal syndrome. 61
3631134 1987
19
[Gammagraphic diagnosis of diaphragmatic abnormalities in children]. 61
626649 1978

Variations for Diaphragmatic Hernia 2

Expression for Diaphragmatic Hernia 2

Search GEO for disease gene expression data for Diaphragmatic Hernia 2.

Pathways for Diaphragmatic Hernia 2

GO Terms for Diaphragmatic Hernia 2

Sources for Diaphragmatic Hernia 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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