MCID: DPH016
MIFTS: 16

Diaphragmatic Hernia 3

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

Aliases & Classifications for Diaphragmatic Hernia 3

MalaCards integrated aliases for Diaphragmatic Hernia 3:

Name: Diaphragmatic Hernia 3 57 75 29 13 6
Dih3 57 75
Hernia, Diaphragmatic, Type 3 40

Classifications:



External Ids:

OMIM 57 610187
MedGen 42 C1857781
SNOMED-CT via HPO 69 17190001

Summaries for Diaphragmatic Hernia 3

UniProtKB/Swiss-Prot : 75 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). 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 9.3 ZFPM2 ZFPM2-AS1
2 double outlet right ventricle 9.2 ZFPM2 ZFPM2-AS1
3 tetralogy of fallot 9.0 ZFPM2 ZFPM2-AS1

Symptoms & Phenotypes for Diaphragmatic Hernia 3

Clinical features from OMIM:

610187

Human phenotypes related to Diaphragmatic Hernia 3:

32
# Description HPO Frequency HPO Source Accession
1 congenital diaphragmatic hernia 32 HP:0000776

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

Publications for Diaphragmatic Hernia 3

Articles related to Diaphragmatic Hernia 3:

# Title Authors Year
1
Recurrent diaphragmatic hernia 3 years after initial repair for traumatic diaphragmatic rupture: a case report. ( 21057446 )
2010

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.334C> T (p.Arg112Ter) single nucleotide variant Pathogenic rs121908602 GRCh37 Chromosome 8, 106573623: 106573623
2 ZFPM2 NM_012082.3(ZFPM2): c.334C> T (p.Arg112Ter) single nucleotide variant Pathogenic rs121908602 GRCh38 Chromosome 8, 105561395: 105561395
3 ZFPM2 NM_012082.3(ZFPM2): c.2107A> C (p.Met703Leu) single nucleotide variant Pathogenic rs121908603 GRCh37 Chromosome 8, 106814417: 106814417
4 ZFPM2 NM_012082.3(ZFPM2): c.2107A> C (p.Met703Leu) single nucleotide variant Pathogenic rs121908603 GRCh38 Chromosome 8, 105802189: 105802189
5 ZFPM2 NM_012082.3(ZFPM2): c.2527A> G (p.Thr843Ala) single nucleotide variant Pathogenic rs121908604 GRCh37 Chromosome 8, 106814837: 106814837
6 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 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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