Aliases & Classifications for Omphalocele

Aliases & Descriptions for Omphalocele:

Name: Omphalocele 12 56 29 52 14
Congenital Omphalocele 69
Omphalocoele 12

Characteristics:

Orphanet epidemiological data:

56
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;

HPO:

32
omphalocele:
Inheritance x-linked inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0060327
ICD10 33 Q79.2
ICD9CM 35 756.72
MeSH 42 D006554
NCIt 47 C98997
Orphanet 56 ORPHA660
ICD10 via Orphanet 34 Q79.2
UMLS via Orphanet 70 C0795690

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 omphalocele, exstrophy of the cloaca, imperforate anus, and spinal defects complex and shprintzen omphalocele syndrome, and has symptoms including premature birth An important gene associated with Omphalocele is GJB2 (Gap Junction Protein Beta 2), and among its related pathways/superpathways are Endochondral Ossification and Cobalamin (Cbl, vitamin B12) transport and metabolism. The drugs Folic Acid and leucovorin have been mentioned in the context of this disorder. Affiliated tissues include liver, skin and heart, and related phenotypes are cardiovascular system and craniofacial

Wikipedia : 71 Omphalocele, also spelled omphalocoele, is a rare abdominal wall defect in which the intestines, liver,... more...

Related Diseases for Omphalocele

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

(show top 50) (show all 114)
id Related Disease Score Top Affiliating Genes
1 omphalocele, exstrophy of the cloaca, imperforate anus, and spinal defects complex 12.1
2 shprintzen omphalocele syndrome 11.9
3 omphalocele-cleft palate syndrome, lethal 11.9
4 diaphragmatic agenesis radial aplasia omphalocele 11.7
5 familial omphalocele syndrome with facial dysmorphism 11.7
6 abdominal wall defect 11.7
7 oeis complex 11.3
8 beckwith-wiedemann syndrome 11.2
9 gershoni-baruch syndrome 11.2
10 otopalatodigital syndrome, type ii 11.1
11 gastroschisis abdominal wall defects, included 11.0
12 exstrophy of bladder bladder exstrophy and epispadias complex, included 10.9
13 manitoba oculotrichoanal syndrome 10.9
14 3mc syndrome 2 10.7
15 donnai-barrow syndrome 10.7
16 3mc syndrome 1 10.7
17 brachial amelia, forebrain defects and facial clefts 10.7
18 pagod syndrome 10.7
19 game friedman paradice syndrome 10.7
20 gastroschisis 10.5
21 imperforate anus 10.2
22 coenzyme q10 deficiency disease 10.1 CD320 TCN2
23 seizures, benign familial infantile, 3 10.0 BMP1 BMPR1A
24 severe combined immunodeficiency 9.9 AFP MNX1
25 dressler's syndrome 9.9 GLI3 MNX1
26 mucositis 9.9 AFP MNX1
27 birth defects 9.9
28 neural tube defects 9.9
29 congenital diaphragmatic hernia 9.9
30 mercury poisoning 9.8
31 hepatitis 9.8
32 esophagitis 9.8
33 ectopia cordis 9.8
34 bladder exstrophy 9.8
35 down syndrome 9.8
36 ventricular septal defect 9.8
37 anencephaly 9.8
38 cryptorchidism 9.7
39 pulmonary hypertension 9.7
40 heart disease 9.7
41 macroglossia 9.7
42 toxascariasis 9.7 AFP CDKN1C MNX1
43 fibrous dysplasia 9.7 AFP FLNA GLI3 MNX1
44 apert syndrome 9.6
45 pentalogy of cantrell 9.6
46 hypoglycemia 9.6
47 sirenomelia 9.6
48 craniorachischisis 9.6
49 prune belly syndrome 9.6
50 holoprosencephaly 9.6

Graphical network of the top 20 diseases related to Omphalocele:



Diseases related to Omphalocele

Symptoms & Phenotypes for Omphalocele

Human phenotypes related to Omphalocele:

56 32
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 omphalocele 56 32 Very frequent (99-80%) HP:0001539
2 premature birth 56 32 Very frequent (99-80%) HP:0001622

MGI Mouse Phenotypes related to Omphalocele:

44 (show all 14)
id Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.14 BMP1 BMPR1A CD320 FLNA GJB2 GLI3
2 craniofacial MP:0005382 10.13 GJB2 GLI3 NUAK1 ZIC3 ALX4 BMP1
3 growth/size/body region MP:0005378 10.13 ALX4 BMP1 BMPR1A FLNA GJB2 GLI3
4 homeostasis/metabolism MP:0005376 10.11 AFP BMP1 BMPR1A CD320 FLNA GJB2
5 mortality/aging MP:0010768 10.1 AFP ALX4 BMP1 BMPR1A FLNA GJB2
6 embryo MP:0005380 10.04 GJB2 GLI3 NUAK1 ZIC3 ALX4 BMP1
7 digestive/alimentary MP:0005381 9.99 ALX4 BMP1 FLNA GLI3 MNX1 ZIC3
8 nervous system MP:0003631 9.97 ALX4 BMPR1A FLNA GJB2 GLI3 MNX1
9 limbs/digits/tail MP:0005371 9.91 ALX4 BMP1 BMPR1A GJB2 GLI3 ZIC3
10 normal MP:0002873 9.87 ALX4 ZIC3 BMPR1A FLNA GJB2 GLI3
11 reproductive system MP:0005389 9.8 ZIC3 AFP BMPR1A CD320 FLNA GJB2
12 respiratory system MP:0005388 9.63 ALX4 BMPR1A FLNA GLI3 MNX1 ZIC3
13 skeleton MP:0005390 9.56 ALX4 BMP1 BMPR1A FLNA GJB2 GLI3
14 vision/eye MP:0005391 9.23 ALX4 BMPR1A CD320 FLNA GJB2 GLI3

Drugs & Therapeutics for Omphalocele

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

(show all 11)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Folic Acid Approved, Nutraceutical, Vet_approved Phase 3 59-30-3 6037
2
leucovorin Approved, Nutraceutical Phase 3 58-05-9 54575, 6560146 143
3 Hematinics Phase 3
4 Micronutrients Phase 3
5 Trace Elements 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:


id Name Status NCT ID Phase
1 Folic Acid Dosage and Malformations Reduction Unknown status NCT01244347 Phase 3
2 Elemental Formula in Neonates Post Small Bowel Resection: Improved Weaning From Total Parenteral Nutrition? Unknown status NCT01891279
3 Determination of Lysine Requirement in the Parenterally Fed Neonate Completed NCT00779753

Search NIH Clinical Center for Omphalocele

Genetic Tests for Omphalocele

Genetic tests related to Omphalocele:

id Genetic test Affiliating Genes
1 Omphalocele 29

Anatomical Context for Omphalocele

MalaCards organs/tissues related to Omphalocele:

39
Liver, Skin, Heart, Lung, Small Intestine, Kidney, Spleen

Publications for Omphalocele

Articles related to Omphalocele:

(show top 50) (show all 564)
id Title Authors Year
1
Umbilical cord sparing technique for repair of congenital hernia into the cord and small omphalocele. ( 27837991 )
2017
2
Not gastroschisis or omphalocele or anything in between: a novel congenital abdominal wall defect. ( 28271155 )
2017
3
Omphalocele-Exstrophy-Imperforate Anus-Spinal Defects Complex: Associated Malformations in 12 New Cases. ( 27160889 )
2016
4
Pulmonary hypertension predicts mortality in infants with omphalocele. ( 26836821 )
2016
5
The Impact of Breast Milk, Respiratory Insufficiency and GERD on Enteral Feeding in Infants with Omphalocele. ( 27820755 )
2016
6
Repair of Postoperative Abdominal Hernia in a Child with Congenital Omphalocele Using Porcine Dermal Matrix. ( 27110247 )
2016
7
Herniated liver mimicking an intracardiac mass in a newborn with omphalocele. ( 27720185 )
2016
8
Topical Iodine-Induced Thyrotoxicosis in a Newborn with a Giant Omphalocele. ( 27551578 )
2016
9
Congenital omphalocele and cleft palate in two fetuses. ( 26867152 )
2016
10
HDlive imaging of a giant omphalocele. ( 27299988 )
2016
11
Thoracic heteropagus conjoined twins associated to an omphalocele: Report of a case and complete review of the literature. ( 28051055 )
2016
12
Negative pressure wound therapy for initial management of giant omphalocele. ( 26778271 )
2016
13
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
14
GAD65/GAD67 double knockout mice exhibit intermediate severity in both cleft palate and omphalocele compared with GAD67 knockout and VGAT knockout mice. ( 25545713 )
2015
15
Antenatal diagnosis of isolated omphalocele. ( 26523175 )
2015
16
Prevalence, Correlates, and Outcomes of Omphalocele in the United States, 1995-2005. ( 26241416 )
2015
17
Use of small intestinal submucosal and acellular dermal matrix grafts in giant omphaloceles in neonates and a rabbit abdominal wall defect model. ( 26364879 )
2015
18
Omphalocele major with absent lower limb. ( 25829718 )
2015
19
Long-term trends and seasonality of omphalocele during 1996-2010 in China: a retrospective analysis based on the hospital-based birth defects surveillance system. ( 25909955 )
2015
20
First-trimester diagnosis of recurrent omphalocele associated with fetal trisomy 18 but without parental mosaicism. ( 25951728 )
2015
21
Multilayered Flap Technique: A Method for Delayed Closure of Giant Omphalocele. ( 26207550 )
2015
22
Extended Component Separation for Repair of High Ventral Hernia in Pediatric Omphalocele. ( 26495216 )
2015
23
Patient characteristics are important determinants of neurodevelopmental outcome during infancy in giant omphalocele. ( 25676186 )
2015
24
Septo-optic Dysplasia Complex with Omphalocele, Pre-maxillary Agenesis and Encephalocele. ( 25848158 )
2015
25
Giant Omphalocele in an Adolescent Boy. ( 26139974 )
2015
26
Management of a Giant Omphalocele with Non-Cross-Linked Intact Porcine-Derived Acellular Dermal Matrix (Strattice) Combined with Vacuum Therapy. ( 26788448 )
2015
27
Interrupted inferior vena cava in fetuses with omphalocele. Case series of fetuses referred for fetal echocardiography and review of the literature. ( 25460249 )
2015
28
Omphalocele, Inguino-scrotal Hernia and Primary Pulmonary Hypertension: A Rare Combination in a Neonate. ( 26138579 )
2015
29
Registry analysis supports different mechanisms for gastroschisis and omphalocele within shared developmental fields. ( 26138114 )
2015
30
Frequency and complications of inguinal hernia repair in giant omphalocele. ( 26078212 )
2015
31
Can omphalocele ratio predict postnatal outcomes? ( 26541312 )
2015
32
Concomitant omphalocele, anencephaly and arthrogryposis associated with trisomy 18. ( 26043511 )
2015
33
Systemic hypertension in giant omphalocele: An underappreciated association. ( 25783355 )
2015
34
Prenatal Prediction of the Type of Omphalocele Closure by Different Medical Consultants. ( 26066620 )
2015
35
CO-OCCURRENCE OF NEURAL TUBE DEFECT, THORACAL DEFECT AND OMPHALOCELE: A RARE CASE AND REVIEW OF THE LITERATURE. ( 26349198 )
2015
36
Correspondence surveillance of gastroschisis and omphalocele: ICD-9 and ICD-10 codes! ( 25546284 )
2015
37
Large Hernia of Umbilical Cord Misdiagnosed as Omphalocele. ( 26290818 )
2015
38
Are all pulmonary hypoplasias the same? A comparison of pulmonary outcomes in neonates with congenital diaphragmatic hernia, omphalocele and congenital lung malformation. ( 25598093 )
2015
39
Non-operative management of a rare diagnosis of splenic torsion in a child with a history of giant omphalocele: a case report and literature review. ( 24602190 )
2014
40
Omphalocele, exstrophy of cloaca, imperforate anus and spinal defect (OEIS Complex) with overlapping features of body stalk anomaly (limb body wall complex). ( 25400352 )
2014
41
Liver agenesis with omphalocele: a report of two human embryos using serial histological sections. ( 25133969 )
2014
42
Pulmonary hypertension in giant omphalocele infants. ( 25487480 )
2014
43
Perinatal mortality in pregnancies with omphalocele: data from the Chinese national birth defects monitoring network, 1996-2006. ( 24953381 )
2014
44
Is treatment futile for an extremely premature infant with giant omphalocele? ( 24366996 )
2014
45
Predicting fetal karyotype in fetuses with omphalocele: The current role of ultrasound. ( 24815707 )
2014
46
Prenatal imaging of a fetus with the rare combination of a right congenital diaphragmatic hernia and a giant omphalocele. ( 25059273 )
2014
47
Gastroschisis, omphalocele or something else? ( 23531629 )
2014
48
Liver developed entirely outside the abdominal cavity in adult omphalocele. ( 24869988 )
2014
49
Ruptured omphalocele mimicking gastroschisis in a fetus with edwards syndrome. ( 24132880 )
2014
50
Staged Closure of Giant Omphalocele using Synthetic Mesh. ( 25374794 )
2014

Variations for Omphalocele

ClinVar genetic disease variations for Omphalocele:

6
id 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 GRCh37 Chromosome 1, 12025628: 12025628

Copy number variations for Omphalocele from CNVD:

7
id 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.

Pathways for Omphalocele

Pathways related to Omphalocele according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1 10.61 BMPR1A CDKN1C GLI3
2 10.3 CD320 TCN2

GO Terms for Omphalocele

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

(show all 15)
id Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription, DNA-templated GO:0045893 9.84 BMPR1A CDKN1C GLI3 ZIC3
2 skeletal system development GO:0001501 9.65 ALX4 BMP1 CDKN1C
3 lung development GO:0030324 9.58 BMPR1A GLI3 ZIC3
4 dorsal/ventral pattern formation GO:0009953 9.55 BMPR1A GLI3
5 embryonic organ development GO:0048568 9.52 BMPR1A GLI3
6 developmental growth GO:0048589 9.51 BMPR1A GLI3
7 palate development GO:0060021 9.5 ALX4 BMPR1A GLI3
8 limb morphogenesis GO:0035108 9.49 ALX4 GLI3
9 cobalamin metabolic process GO:0009235 9.46 CD320 TCN2
10 embryonic morphogenesis GO:0048598 9.43 BMPR1A GLI3
11 regulation of cellular senescence GO:2000772 9.37 BMPR1A NUAK1
12 embryonic digit morphogenesis GO:0042733 9.33 ALX4 BMPR1A GLI3
13 cobalamin transport GO:0015889 9.26 CD320 TCN2
14 anterior/posterior pattern specification GO:0009952 9.26 ALX4 BMPR1A GLI3 ZIC3
15 pattern specification process GO:0007389 8.92 ALX4 BMPR1A GLI3 ZIC3

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

id Name GO ID Score Top Affiliating Genes
1 sequence-specific DNA binding GO:0043565 9.26 ALX4 GLI3 MNX1 ZIC3
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
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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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