Aliases & Classifications for Omphalocele

MalaCards integrated aliases for Omphalocele:

Name: Omphalocele 12 55 28 51 14
Congenital Omphalocele 69
Omphalocoele 12

Characteristics:

Orphanet epidemiological data:

55
omphalocele
Inheritance: Not applicable; Prevalence: 1-5/10000 (Europe),1-5/10000 (Austria),1-5/10000 (Belgium),1-5/10000 (Croatia),1-5/10000 (Denmark),1-5/10000 (France),1-5/10000 (Germany),1-9/100000 (Hungary),1-5/10000 (Ireland),1-5/10000 (Italy),1-5/10000 (Malta),1-5/10000 (Netherlands),1-5/10000 (Norway),1-5/10000 (Poland),1-9/100000 (Spain),1-5/10000 (Switzerland),1-5/10000 (United Kingdom),1-5/10000 (Ukraine),1-5/10000 (United States); Age of onset: Antenatal,Neonatal; Age of death: any age;

Classifications:



External Ids:

Disease Ontology 12 DOID:0060327
ICD10 32 Q79.2
ICD9CM 34 756.72
MeSH 41 D006554
NCIt 46 C98997
Orphanet 55 ORPHA660
UMLS via Orphanet 70 C0795690
ICD10 via Orphanet 33 Q79.2
SNOMED-CT via HPO 65 282020008 367494004 49550006

Summaries for Omphalocele

Disease Ontology : 12 A physical disorder characterized by a defect in the development of the abdominal wall muscles, resulting in the intestines, liver and other organs to remain outside of the abdomen in a sac.

MalaCards based summary : Omphalocele, also known as congenital omphalocele, is related to abdominal wall defect and beckwith-wiedemann syndrome, and has symptoms including premature birth An important gene associated with Omphalocele is PLOD1 (Procollagen-Lysine,2-Oxoglutarate 5-Dioxygenase 1), and among its related pathways/superpathways are Metabolism of water-soluble vitamins and cofactors and Endochondral Ossification. The drugs leucovorin and Folic Acid have been mentioned in the context of this disorder. Affiliated tissues include liver, skin and heart, and related phenotypes are growth/size/body region and mortality/aging

Related Diseases for Omphalocele

Diseases in the Omphalocele family:

Omphalocele, Autosomal

Diseases related to Omphalocele via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 137)
# Related Disease Score Top Affiliating Genes
1 abdominal wall defect 32.2 GJB2 PLOD1
2 beckwith-wiedemann syndrome 31.7 AFP CDKN1C KCNQ1OT1
3 anus, imperforate 30.3 GLI3 MNX1
4 neural tube defects 28.4 AFP MNX1 MTHFD1 SLC19A1 TCN2 ZIC3
5 shprintzen omphalocele syndrome 12.4
6 omphalocele-cleft palate syndrome, lethal 12.4
7 omphalocele, exstrophy of the cloaca, imperforate anus, and spinal defects complex 12.3
8 omphalocele, autosomal 12.3
9 omphalocele, diaphragmatic hernia, and radial ray defects 12.0
10 omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome 12.0
11 omphalocele, x-linked 11.8
12 diaphragmatic agenesis radial aplasia omphalocele 11.8
13 familial omphalocele syndrome with facial dysmorphism 11.8
14 gastroschisis 11.5
15 oeis complex 11.4
16 pagod syndrome 11.4
17 game friedman paradice syndrome 11.4
18 exstrophy of bladder 11.3
19 brachial amelia, cleft lip, and holoprosencephaly 11.2
20 otopalatodigital syndrome, type ii 11.1
21 manitoba oculotrichoanal syndrome 10.9
22 hypertelorism, teebi type 10.8
23 acrocephalopolydactylous dysplasia 10.8
24 donnai-barrow syndrome 10.8
25 3mc syndrome 3 10.8
26 3mc syndrome 1 10.8
27 3mc syndrome 2 10.8
28 fibrochondrogenesis 10.8
29 froster-huch syndrome 10.8
30 ichthyosis follicularis atrichia photophobia syndrome 10.8
31 methimazole antenatal exposure 10.8
32 schisis association 10.8
33 hemihyperplasia, isolated 10.3 CDKN1C KCNQ1OT1
34 spastic paraplegia 17, autosomal dominant 10.2 CDKN1C KCNQ1OT1
35 vitamin metabolic disorder 10.2 CD320 TCN2
36 sacrococcygeal teratoma 10.1 AFP MNX1
37 diaphragmatic hernia, congenital 10.1
38 neural tube defects, folate-sensitive 10.0
39 mercury poisoning 10.0
40 germ cell and embryonal cancer 9.9 AFP CDKN1C MNX1
41 down syndrome 9.9
42 anencephaly 9.9
43 pulmonary hypertension 9.9
44 hepatitis 9.9
45 esophagitis 9.9
46 ventricular septal defect 9.9
47 ectopia cordis 9.9
48 cleft palate, isolated 9.8
49 macroglossia 9.8
50 cryptorchidism, unilateral or bilateral 9.8

Graphical network of the top 20 diseases related to Omphalocele:



Diseases related to Omphalocele

Symptoms & Phenotypes for Omphalocele

Human phenotypes related to Omphalocele:

55 31
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 omphalocele 55 31 hallmark (90%) Very frequent (99-80%) HP:0001539
2 premature birth 55 31 hallmark (90%) Very frequent (99-80%) HP:0001622

MGI Mouse Phenotypes related to Omphalocele:

43 (show all 16)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.29 ALX4 BMP1 BMPR1A FLNA FREM1 GJB2
2 mortality/aging MP:0010768 10.28 GLI3 MNX1 MTHFD1 NUAK1 PLOD1 SLC19A1
3 cardiovascular system MP:0005385 10.26 BMPR1A CD320 FLNA GJB2 GLI3 MNX1
4 homeostasis/metabolism MP:0005376 10.24 MNX1 MTHFD1 NUAK1 SLC19A1 AFP BMP1
5 craniofacial MP:0005382 10.2 ALX4 BMP1 BMPR1A FLNA FREM1 GJB2
6 embryo MP:0005380 10.18 MTHFD1 NUAK1 SLC19A1 ZIC3 BMPR1A GJB2
7 digestive/alimentary MP:0005381 10.14 ALX4 BMP1 FLNA FREM1 GLI3 MNX1
8 limbs/digits/tail MP:0005371 10.11 ALX4 BMP1 BMPR1A FREM1 GJB2 GLI3
9 nervous system MP:0003631 10.07 ALX4 BMPR1A FLNA FREM1 GJB2 GLI3
10 integument MP:0010771 10.02 ALX4 BMPR1A FREM1 GJB2 GLI3 PLOD1
11 muscle MP:0005369 9.95 ALX4 BMP1 BMPR1A FREM1 MNX1 NUAK1
12 normal MP:0002873 9.92 FREM1 GJB2 GLI3 ALX4 BMPR1A FLNA
13 reproductive system MP:0005389 9.91 AFP BMPR1A CD320 FLNA FREM1 GJB2
14 respiratory system MP:0005388 9.7 ALX4 BMPR1A FLNA FREM1 GLI3 MNX1
15 skeleton MP:0005390 9.65 ALX4 BMP1 BMPR1A FLNA FREM1 GJB2
16 vision/eye MP:0005391 9.28 ALX4 BMPR1A CD320 FLNA FREM1 GJB2

Drugs & Therapeutics for Omphalocele

Drugs for Omphalocele (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 11)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
leucovorin Approved, Nutraceutical Phase 3 58-05-9 143 6006
2
Folic Acid Approved, Nutraceutical, Vet_approved Phase 3 59-30-3 6037
3 Micronutrients Phase 3
4 Trace Elements Phase 3
5 Hematinics Phase 3
6 Vitamin B Complex Phase 3
7 Vitamins Phase 3
8 Folate Nutraceutical Phase 3
9 Vitamin B9 Nutraceutical Phase 3
10 Pharmaceutical Solutions
11 lysine Nutraceutical

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Prophylaxis of Ileostomy Closure Site Hernia by Placing Mesh Recruiting NCT02226887 Phase 4
2 Folic Acid Dosage and Malformations Reduction Unknown status NCT01244347 Phase 3 folic acid;folic acid
3 Elemental Formula in Neonates Post Small Bowel Resection: Improved Weaning From Total Parenteral Nutrition? Unknown status NCT01891279
4 ProLOVE - Prospective Randomized Study of Midline Incisional Hernia Treatment Completed NCT00472537
5 Determination of Lysine Requirement in the Parenterally Fed Neonate Completed NCT00779753
6 Genetic Analysis of Congenital Diaphragmatic Disorders Recruiting NCT01243229
7 Interest of the Manual Exploration as a Supplement to the Coelioscopy in the Evaluation of the Resectability of Peritoneal Carcinosis Recruiting NCT02493972
8 Primary Fascial Closure With Laparoscopic Ventral Hernia Repair: A Randomized Controlled Trial Active, not recruiting NCT02363790
9 Impact of the Systematic Closure of the Epigastric Trocar on Postoperative Incisional Hernia After Sleeve Gastrectomy Rate of First Intention. Monocentric Study, Before / After Prospective. Not yet recruiting NCT02973009

Search NIH Clinical Center for Omphalocele

Genetic Tests for Omphalocele

Genetic tests related to Omphalocele:

# Genetic test Affiliating Genes
1 Omphalocele 28

Anatomical Context for Omphalocele

MalaCards organs/tissues related to Omphalocele:

38
Liver, Skin, Heart, Small Intestine, Lung, Spleen, Kidney

Publications for Omphalocele

Articles related to Omphalocele:

(show top 50) (show all 582)
# Title Authors Year
1
Patent Omphalomesenteric Duct with Protruding Bowels through a Ruptured Omphalocele. ( 29400311 )
2018
2
Diagnosis and management of a fatal case of sepsis caused by<i>Candida parapsilosis sensu stricto</i>in a neonate with omphalocele. ( 29348997 )
2018
3
Omphalocele, exstrophy of cloaca, imperforate anus, and spinal defect complex, multiple major reconstructive surgeries needed. ( 29416290 )
2018
4
Omphalocele and Gastroschisis in Newborns: Over 16 Years of Experience from a Single Clinic. ( 28770124 )
2017
5
Prenatal diagnosis of caudal regression syndrome and omphalocele in a fetus of a diabetic mother. ( 28904658 )
2017
6
The Upturned Superior Mesenteric Artery Sign for First-Trimester Detection of Congenital Diaphragmatic Hernia and Omphalocele. ( 28150314 )
2017
7
Not gastroschisis or omphalocele or anything in between: a novel congenital abdominal wall defect. ( 28271155 )
2017
8
A rare case of OEIS complex - newer approach to diagnosis of exstrophy bladder by color doppler and its differentiation from simple omphalocele. ( 29379239 )
2017
9
The use of ECMO for gastroschisis and omphalocele: Two decades of experience. ( 28410786 )
2017
10
Staged closure of a giant omphalocele with amnion preservation, modified technique. ( 28397950 )
2017
11
High Prevalence of Pulmonary Hypertension Complicates the Care of Infants with Omphalocele. ( 28704835 )
2017
12
Pentalogy of Cantrell in a monozygotic twin with a giant omphalocele firmly attached to the amniotic membrane: successful prenatal diagnosis and cesarean delivery. ( 28686315 )
2017
13
Does omphalocele major undergo spontaneous closure? ( 28928917 )
2017
14
Sequence variants identification at the KCNQ1OT1:TSS differentially Methylated region in isolated omphalocele cases. ( 29047350 )
2017
15
A Rare Case of Genital Malformation with Omphalocele, Exstrophy of Bladder, Imperforate Anus and Spinal Defect Complex-Autopsy Findings. ( 28892921 )
2017
16
Occurrence of Synpolydactyly and Omphalocele in a Fetus with a HOXD13 Mutation. ( 28794915 )
2017
17
Rare combination of left-sided congenital diaphragmatic hernia and omphalocele. ( 28790097 )
2017
18
Umbilical cord sparing technique for repair of congenital hernia into the cord and small omphalocele. ( 27837991 )
2017
19
Giant Omphalocele Complicated by Postoperative Duodenal Obstruction. ( 28164002 )
2017
20
Pulmonary hypertension predicts mortality in infants with omphalocele. ( 26836821 )
2016
21
The Impact of Breast Milk, Respiratory Insufficiency and GERD on Enteral Feeding in Infants with Omphalocele. ( 27820755 )
2016
22
Thoracic heteropagus conjoined twins associated to an omphalocele: Report of a case and complete review of the literature. ( 28051055 )
2016
23
Negative pressure wound therapy for initial management of giant omphalocele. ( 26778271 )
2016
24
Correction: Prevalence of Gastroschisis, Omphalocele, Spina Bifida and Orofacial Clefts of Neonates from January 2000 to December 2010 in Leipzig, Saxony, Saxony-Anhalt and Germany. ( 27533496 )
2016
25
Repair of Postoperative Abdominal Hernia in a Child with Congenital Omphalocele Using Porcine Dermal Matrix. ( 27110247 )
2016
26
Congenital omphalocele and cleft palate in two fetuses. ( 26867152 )
2016
27
HDlive imaging of a giant omphalocele. ( 27299988 )
2016
28
Omphalocele-Exstrophy-Imperforate Anus-Spinal Defects Complex: Associated Malformations in 12 New Cases. ( 27160889 )
2016
29
Herniated liver mimicking an intracardiac mass in a newborn with omphalocele. ( 27720185 )
2016
30
Topical Iodine-Induced Thyrotoxicosis in a Newborn with a Giant Omphalocele. ( 27551578 )
2016
31
Concomitant omphalocele, anencephaly and arthrogryposis associated with trisomy 18. ( 26043511 )
2015
32
Correspondence surveillance of gastroschisis and omphalocele: ICD-9 and ICD-10 codes! ( 25546284 )
2015
33
Registry analysis supports different mechanisms for gastroschisis and omphalocele within shared developmental fields. ( 26138114 )
2015
34
GAD65/GAD67 double knockout mice exhibit intermediate severity in both cleft palate and omphalocele compared with GAD67 knockout and VGAT knockout mice. ( 25545713 )
2015
35
Extended Component Separation for Repair of High Ventral Hernia in Pediatric Omphalocele. ( 26495216 )
2015
36
Giant Omphalocele in an Adolescent Boy. ( 26139974 )
2015
37
First-trimester diagnosis of recurrent omphalocele associated with fetal trisomy 18 but without parental mosaicism. ( 25951728 )
2015
38
CO-OCCURRENCE OF NEURAL TUBE DEFECT, THORACAL DEFECT AND OMPHALOCELE: A RARE CASE AND REVIEW OF THE LITERATURE. ( 26349198 )
2015
39
Frequency and complications of inguinal hernia repair in giant omphalocele. ( 26078212 )
2015
40
Use of small intestinal submucosal and acellular dermal matrix grafts in giant omphaloceles in neonates and a rabbit abdominal wall defect model. ( 26364879 )
2015
41
Omphalocele major with absent lower limb. ( 25829718 )
2015
42
Prenatal Prediction of the Type of Omphalocele Closure by Different Medical Consultants. ( 26066620 )
2015
43
Antenatal diagnosis of isolated omphalocele. ( 26523175 )
2015
44
Large Hernia of Umbilical Cord Misdiagnosed as Omphalocele. ( 26290818 )
2015
45
Systemic hypertension in giant omphalocele: An underappreciated association. ( 25783355 )
2015
46
Septo-optic Dysplasia Complex with Omphalocele, Pre-maxillary Agenesis and Encephalocele. ( 25848158 )
2015
47
Can omphalocele ratio predict postnatal outcomes? ( 26541312 )
2015
48
Prevalence, Correlates, and Outcomes of Omphalocele in the United States, 1995-2005. ( 26241416 )
2015
49
Interrupted inferior vena cava in fetuses with omphalocele. Case series of fetuses referred for fetal echocardiography and review of the literature. ( 25460249 )
2015
50
Are all pulmonary hypoplasias the same? A comparison of pulmonary outcomes in neonates with congenital diaphragmatic hernia, omphalocele and congenital lung malformation. ( 25598093 )
2015

Variations for Omphalocele

ClinVar genetic disease variations for Omphalocele:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 GJB2 NM_004004.5(GJB2): c.269T> C (p.Leu90Pro) single nucleotide variant Pathogenic rs80338945 GRCh37 Chromosome 13, 20763452: 20763452
2 PLOD1 NM_000302.3(PLOD1): c.1562G> A (p.Trp521Ter) single nucleotide variant Pathogenic rs1057518879 GRCh38 Chromosome 1, 11965571: 11965571

Copy number variations for Omphalocele from CNVD:

7
# CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 137137 2 138750000 144750000 Deletion ARHGAP15 Omphalocele
2 137141 2 138750000 144750000 Deletion GTDC1 Omphalocele
3 137145 2 138750000 144750000 Deletion HNMT Omphalocele
4 137149 2 138750000 144750000 Deletion KYNU Omphalocele
5 137153 2 138750000 144750000 Deletion LOC64702 Omphalocele
6 137157 2 138750000 144750000 Deletion LRP1B Omphalocele
7 137161 2 138750000 144750000 Deletion NXPH2 Omphalocele
8 137165 2 138750000 144750000 Deletion SPOPL Omphalocele

Expression for Omphalocele

Search GEO for disease gene expression data for Omphalocele.

GO Terms for Omphalocele

Biological processes related to Omphalocele according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 lung development GO:0030324 9.58 BMPR1A GLI3 ZIC3
2 palate development GO:0060021 9.54 ALX4 BMPR1A GLI3
3 limb morphogenesis GO:0035108 9.49 ALX4 GLI3
4 cobalamin metabolic process GO:0009235 9.48 CD320 TCN2
5 folic acid metabolic process GO:0046655 9.46 MTHFD1 SLC19A1
6 embryonic morphogenesis GO:0048598 9.43 BMPR1A GLI3
7 embryonic digit morphogenesis GO:0042733 9.33 ALX4 BMPR1A GLI3
8 regulation of cellular senescence GO:2000772 9.32 BMPR1A NUAK1
9 cobalamin transport GO:0015889 9.26 CD320 TCN2
10 anterior/posterior pattern specification GO:0009952 9.26 ALX4 BMPR1A GLI3 ZIC3
11 pattern specification process GO:0007389 8.92 ALX4 BMPR1A GLI3 ZIC3

Molecular functions related to Omphalocele according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 metal ion binding GO:0046872 9.65 AFP BMP1 BMPR1A CD320 FREM1 GLI3
2 cobalamin binding GO:0031419 8.62 CD320 TCN2

Sources for Omphalocele

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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