DIH3
MCID: DPH016
MIFTS: 19

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 58 76 30 13 6
Dih3 58 76
Hernia, Diaphragmatic, Type 3 41

Classifications:



External Ids:

OMIM 58 610187
MedGen 43 C1857781
SNOMED-CT via HPO 70 17190001

Summaries for Diaphragmatic Hernia 3

UniProtKB/Swiss-Prot : 76 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 46,xy sex reversal 9 and double outlet right ventricle. 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.

Description 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 46,xy sex reversal 9 9.7 ZFPM2 ZFPM2-AS1
2 double outlet right ventricle 9.6 ZFPM2 ZFPM2-AS1
3 tetralogy of fallot 9.5 ZFPM2 ZFPM2-AS1

Symptoms & Phenotypes for Diaphragmatic Hernia 3

Human phenotypes related to Diaphragmatic Hernia 3:

33
# Description HPO Frequency HPO Source Accession
1 congenital diaphragmatic hernia 33 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 30 ZFPM2

Anatomical Context for Diaphragmatic Hernia 3

MalaCards organs/tissues related to Diaphragmatic Hernia 3:

42
Lung

Publications for Diaphragmatic Hernia 3

Articles related to Diaphragmatic Hernia 3:

# Title Authors Year
1
Prevalence and penetrance of ZFPM2 mutations and deletions causing congenital diaphragmatic hernia. ( 24702427 )
2015
2
Novel ZFPM2/FOG2 variants in patients with double outlet right ventricle. ( 21919901 )
2012
3
New mutations in ZFPM2/FOG2 gene in tetralogy of Fallot and double outlet right ventricle. ( 20807224 )
2011
4
Recurrent diaphragmatic hernia 3 years after initial repair for traumatic diaphragmatic rupture: a case report. ( 21057446 )
2010
5
Candidate genes for congenital diaphragmatic hernia from animal models: sequencing of FOG2 and PDGFRalpha reveals rare variants in diaphragmatic hernia patients. ( 17568391 )
2007
6
Fog2 is required for normal diaphragm and lung development in mice and humans. ( 16103912 )
2005
7
Mutations of ZFPM2/FOG2 gene in sporadic cases of tetralogy of Fallot. ( 14517948 )
2003

Variations for Diaphragmatic Hernia 3

ClinVar genetic disease variations for Diaphragmatic Hernia 3:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 ZFPM2 NM_012082.3(ZFPM2): c.89A> G (p.Glu30Gly) single nucleotide variant Likely benign rs121908601 GRCh37 Chromosome 8, 106431420: 106431420
2 ZFPM2 NM_012082.3(ZFPM2): c.89A> G (p.Glu30Gly) single nucleotide variant Likely benign rs121908601 GRCh38 Chromosome 8, 105419192: 105419192
3 ZFPM2 NM_012082.3(ZFPM2): c.334C> T (p.Arg112Ter) single nucleotide variant Pathogenic rs121908602 GRCh37 Chromosome 8, 106573623: 106573623
4 ZFPM2 NM_012082.3(ZFPM2): c.334C> T (p.Arg112Ter) single nucleotide variant Pathogenic rs121908602 GRCh38 Chromosome 8, 105561395: 105561395
5 ZFPM2 NM_012082.3(ZFPM2): c.2107A> C (p.Met703Leu) single nucleotide variant Pathogenic rs121908603 GRCh37 Chromosome 8, 106814417: 106814417
6 ZFPM2 NM_012082.3(ZFPM2): c.2107A> C (p.Met703Leu) single nucleotide variant Pathogenic rs121908603 GRCh38 Chromosome 8, 105802189: 105802189
7 ZFPM2 NM_012082.3(ZFPM2): c.2527A> G (p.Thr843Ala) single nucleotide variant Pathogenic rs121908604 GRCh37 Chromosome 8, 106814837: 106814837
8 ZFPM2 NM_012082.3(ZFPM2): c.2527A> G (p.Thr843Ala) single nucleotide variant Pathogenic rs121908604 GRCh38 Chromosome 8, 105802609: 105802609

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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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