MCID: OMP004
MIFTS: 45

Omphalocele

Categories: Fetal diseases, Gastrointestinal diseases, Liver diseases, Rare diseases
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Aliases & Classifications for Omphalocele

MalaCards integrated aliases for Omphalocele:

Name: Omphalocele 11 58 53 5 14 75 33
Congenital Omphalocele 71
Exumbilication 33
Omphalocoele 11
Exomphalos 33

Characteristics:


Prevelance:

1-5/10000 (Europe, Europe, Austria, Austria, Belgium, Belgium, Croatia, Croatia, Denmark, Denmark, France, France, Germany, Germany, Ireland, Ireland, Italy, Italy, Malta, Malta, Netherlands, Netherlands, Norway, Norway, Poland, Poland, Switzerland, Switzerland, United Kingdom, United Kingdom, Ukraine, Ukraine, Czech Republic, China, United States, United States) 1-9/100000 (Hungary, Hungary, Spain, Spain, Japan) 58

Age Of Onset:

Antenatal 58

Classifications:

Orphanet: 58  
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 11 DOID:0060327
ICD9CM 34 756.72
MeSH 43 D006554
NCIt 49 C98997
SNOMED-CT 68 49324006 5867007
ICD10 31 Q79.2
ICD10 via Orphanet 32 Q79.2
UMLS via Orphanet 72 C0795690
Orphanet 58 ORPHA660
ICD11 33 1168696429
UMLS 71 C0795690 C1306503

Summaries for Omphalocele

Disease Ontology: 11 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 otopalatodigital syndrome, type ii and beckwith-wiedemann syndrome. An important gene associated with Omphalocele is PLOD1 (Procollagen-Lysine,2-Oxoglutarate 5-Dioxygenase 1), and among its related pathways/superpathways is Noncanonical Wnt signaling pathway. Affiliated tissues include liver, lung and heart, and related phenotypes are premature birth and omphalocele

Orphanet: 58 A rare, non-syndromic, abdominal wall malformation characterized by a hernia of the abdominal wall, centered on the umbilical cord, in which the protruding viscera are protected by a sac.

Wikipedia: 75 Omphalocele or omphalocoele also called exomphalos, is a rare abdominal wall defect. Beginning at the... more...

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 371)
# Related Disease Score Top Affiliating Genes
1 otopalatodigital syndrome, type ii 31.9 PITX2 FLNA
2 beckwith-wiedemann syndrome 31.5 NSD1 KCNQ1OT1 IGF2 GPC3 DYNC1I2 CDKN1C
3 diaphragmatic hernia, congenital 30.8 GPC3 FREM1 FOXF1
4 macroglossia 30.6 NSD1 CDKN1C
5 anencephaly 30.6 NUAK2 AFP ACHE
6 intestinal atresia 30.5 PITX2 FOXF1 AFP
7 wilms tumor 5 30.3 IGF2 GPC3 CDKN1C
8 spina bifida aperta 30.2 AFP ACHE
9 atrial heart septal defect 30.1 PITX2 NSD1 FOXF1 FLNA
10 patent ductus arteriosus 1 30.0 PITX2 NSD1 FOXF1 FLNA
11 umbilical hernia 30.0 PLOD1 PITX2 KCNQ1OT1 IGF2 DYNC1I2 CDKN1C
12 hemihyperplasia, isolated 29.9 KCNQ1OT1 IGF2 CDKN1C
13 malignant teratoma 29.9 GPC3 AFP
14 wilms tumor 1 29.8 KCNQ1OT1 IGF2 GPC3 DYNC1I2 CDKN1C AFP
15 hepatoblastoma 29.8 IGF2 GPC3 CDKN1C AFP
16 tetralogy of fallot 29.7 ROCK1 PITX2 FOXF1 FLNA
17 mature teratoma 29.7 GPC3 AFP
18 gastroschisis 11.7
19 shprintzen omphalocele syndrome 11.7
20 cloacal exstrophy 11.6
21 omphalocele, autosomal 11.6
22 omphalocele-cleft palate syndrome, lethal 11.5
23 omphalocele, diaphragmatic hernia, and radial ray defects 11.4
24 oeis complex 11.3
25 hydrocephalus with associated malformations 11.3
26 familial omphalocele syndrome with facial dysmorphism 11.3
27 manitoba oculotrichoanal syndrome 11.2
28 teebi hypertelorism syndrome 1 11.1
29 donnai-barrow syndrome 11.1
30 acrocephalopolydactylous dysplasia 11.0
31 3mc syndrome 11.0
32 fibrochondrogenesis 11.0
33 schisis association 11.0
34 bladder exstrophy and epispadias complex 11.0
35 myoectodermal gonadal dysgenesis syndrome 11.0
36 methimazole antenatal exposure 11.0
37 diaphragmatic hernia exomphalos corpus callosum agenesis 11.0
38 omphalocele, x-linked 11.0
39 pagod syndrome 10.9
40 diaphragmatic agenesis radial aplasia omphalocele 10.9
41 focal dermal hypoplasia 10.9
42 miller-dieker lissencephaly syndrome 10.9
43 boomerang dysplasia 10.9
44 3mc syndrome 3 10.9
45 chromosome 9p deletion syndrome 10.9
46 3mc syndrome 1 10.9
47 3mc syndrome 2 10.9
48 fetal encasement syndrome 10.9
49 robinow syndrome, autosomal recessive 2 10.9
50 genitourinary and/or brain malformation syndrome 10.9

Graphical network of the top 20 diseases related to Omphalocele:



Diseases related to Omphalocele

Symptoms & Phenotypes for Omphalocele

Human phenotypes related to Omphalocele:

58 30
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 premature birth 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001622
2 omphalocele 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001539

MGI Mouse Phenotypes related to Omphalocele:

45 (show all 11)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.28 ACHE ALX4 ATXN1L CDKN1C FLNA FOXF1
2 nervous system MP:0003631 10.27 ACHE ALX4 ATXN1L CDKN1C FLNA FREM1
3 muscle MP:0005369 10.18 ACHE ALX4 CDKN1C FOXF1 FREM1 IGF2
4 embryo MP:0005380 10.1 ALX4 CDKN1C FOXF1 GPC3 IGF2 KCNQ1OT1
5 craniofacial MP:0005382 10.06 ACHE ALX4 ATXN1L CDKN1C FLNA FREM1
6 respiratory system MP:0005388 10.03 ACHE ALX4 ATXN1L CDKN1C FLNA FOXF1
7 digestive/alimentary MP:0005381 10.02 ALX4 CDKN1C FLNA FOXF1 FREM1 GPC3
8 liver/biliary system MP:0005370 10 AFP FLNA FOXF1 FREM1 IGF2 KCNQ1OT1
9 skeleton MP:0005390 9.81 ALX4 ATXN1L CDKN1C FLNA FREM1 GPC3
10 vision/eye MP:0005391 9.65 ACHE ALX4 CDKN1C FLNA FREM1 IGF2
11 mortality/aging MP:0010768 9.53 ACHE ALX4 ATXN1L CDKN1C FLNA FOXF1

Drugs & Therapeutics for Omphalocele

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Health Related Quality of Life of Patients With Abdominal Wall Defects Completed NCT03960320
2 Management and Outcomes of Congenital Anomalies in Low-, Middle- and High-Income Countries: A Multi-Centre, International, Prospective Cohort Study Completed NCT03666767
3 Omphaloceles and Associated Malformations in Preterm and Term Newborns Recruiting NCT04126863
4 A Prospective Tolerability and Safety Study of a Powdered Human Milk-based Breastmilk Fortifier (Neokare) in Neonates With Gastrointestinal Problems Recruiting NCT05293353
5 Functional Magnetic Resonance Imaging - Blood Oxygenation Level Dependent (MRI-BOLD) of the Feta Lung in Congenital Diaphragmatic and Parietal Malformations Withdrawn NCT04186039

Search NIH Clinical Center for Omphalocele

Genetic Tests for Omphalocele

Anatomical Context for Omphalocele

Organs/tissues related to Omphalocele:

MalaCards : Liver, Lung, Heart, Placenta, Skin, Uterus, Adrenal Cortex

Publications for Omphalocele

Articles related to Omphalocele:

(show top 50) (show all 2541)
# Title Authors PMID Year
1
CDKN1C (p57(Kip2)) analysis in Beckwith-Wiedemann syndrome (BWS) patients: Genotype-phenotype correlations, novel mutations, and polymorphisms. 53 62
20503313 2010
2
Familial Beckwith-Wiedemann syndrome due to CDKN1C mutation manifesting with recurring omphalocele. 53 62
18395877 2008
3
Syndromes and disorders associated with omphalocele (I): Beckwith-Wiedemann syndrome. 53 62
17638616 2007
4
Mouse mutant embryos overexpressing IGF-II exhibit phenotypic features of the Beckwith-Wiedemann and Simpson-Golabi-Behmel syndromes. 53 62
9389646 1997
5
Second-trimester maternal serum alpha-fetoprotein, unconjugated estriol, and hCG levels in pregnancies with ventral wall defects. 53 62
7524003 1994
6
Amniotic fluid acetylcholinesterase is found in gastroschisis but not omphalocele. 53 62
8240688 1993
7
High levels of maternal serum alpha-fetoprotein and human chorionic gonadotrophins leading to the diagnosis of combined neural tube defect and partial mole. 53 62
1377390 1992
8
OEIS complex-using MRI in diagnostic: Two case reports. 62
36411851 2023
9
Assessing associations between residential proximity to greenspace and birth defects in the National Birth Defects Prevention Study. 62
36356662 2023
10
Detection rates of a national fetal anomaly screening programme: A national cohort study. 62
36054171 2023
11
Ultrasound and molecular prenatal diagnosis of Beckwith-Wiedemann syndrome: Two case reports. 62
36281281 2022
12
"Is anemia frequently recognized in gastroschisis compared to omphalocele? A multicenter retrospective study in southern Japan" by Sugita, K et al. 62
36454276 2022
13
Abdominal Wall Defects: A Review of Current Practice Guidelines. 62
36328609 2022
14
Meeting in the middle: pediatric abdominal wall reconstruction for omphalocele. 62
36153778 2022
15
Can perinatal outcomes of fetal omphalocele be improved at a tertiary center in South China? 62
34496712 2022
16
Bovine omphalocele: errors in embryonic development, veterinarian importance, and the way forward. 62
36107281 2022
17
Quantitative assessment of coat-hanger ribs detected on three-dimensional ultrasound for prenatal diagnosis of Kagami-Ogata syndrome. 62
36087043 2022
18
Pediculated Accessory Liver Lobe with Gallbladder in a Preterm with Umbilical Cord Hernia. 62
36421203 2022
19
Successful device closure by Amplatzer vascular plug II of a rare celiacomesenteric trunk-to-right atrium fistula in a repaired giant omphalocele. 62
36373332 2022
20
Combined negative pressure wound therapy with irrigation and dwell time and artificial dermis prevents infection and promotes granulation formation in a ruptured giant omphalocele: a case report. 62
36435753 2022
21
Anatomy and embryology of abdominal wall defects. 62
36446303 2022
22
Prenatal Diagnosis of Bladder Exstrophy and OEIS over 20 Years. 62
36460061 2022
23
Beckwith-Wiedemann syndrome with long QT caused by a deletion involving KCNQ1 but not KCNQ1OT1:TSS-DMR. 62
36402267 2022
24
Fetal Omphalocele: Review of Predictive Factors Important for Antenatal Counseling? 62
36345106 2022
25
Outcomes of patients with exomphalos and associated congenital heart diseases. 62
36441283 2022
26
Management of Abdominal Wall Defects. 62
36209747 2022
27
Operative Volume of Newborn Surgery in German University Hospitals: High Volume Versus Low Volume Centers. 62
35026856 2022
28
Comparative Study between Acacia Nilotica versus Povidone Iodine in Topical Treatment of Omphalocele Major. 62
36189534 2022
29
Nutritional Management of Infants With A Giant Ruptured Omphalocele: Clinical Observations From A Single Institution Case Series. 62
36302247 2022
30
Systemic Inflammation Is Associated with Pulmonary Hypertension in Isolated Giant Omphalocele: A Population-Based Study. 62
36292445 2022
31
Prenatal diagnosis of fetal ectopia cordis by fetal cardiovascular magnetic resonance imaging. 62
36307940 2022
32
Prevention of Tracheo-Innominate Artery Fistula Formation as a Complication of Tracheostomy: Two Case Reports. 62
36360331 2022
33
Prenatal diagnosis of rare cloacal exstrophy: A case report. 62
36147113 2022
34
Abnormal inferior vena cava course mimicking inferior vena cava interruption with azygos continuation in the postoperative patient with omphalocele. 62
36129632 2022
35
Current Challenges in the Treatment of the Omphalocele-Experience of a Tertiary Center from Romania. 62
36233585 2022
36
Surgical approach and etiopathogenetic considerations to the umbilical tumefactions in cattle: Case review in twenty years (2000/2020). 62
35784586 2022
37
How late in pregnancy can fetal physiological omphalocele be seen? Nationwide study of cases in Denmark over 4-year period. 62
35561105 2022
38
The association of nausea and vomiting of pregnancy, its treatments, and select birth defects: Findings from the National Birth Defect Prevention Study. 62
36168701 2022
39
Pattern Recognition of Abdominal Vasculature on Color Doppler in the Fetus as a Tool for Early Diagnosis of Bladder Exstrophy in the First and Early-Second Trimester: Initial Observations. 62
36177283 2022
40
A case of congenital cloacal exstrophy/omphalocele-exstrophy-imperforate anus-spinal defects syndrome and a successful pregnancy. 62
36097738 2022
41
Is anemia frequently recognized in gastroschisis compared to omphalocele? A multicenter retrospective study in southern Japan. 62
35764762 2022
42
Coexisting gastrointestinal and hepatobiliary tract anomalies in omphalocele and gastroschisis: A twenty-year experience in a single tertiary medical center. 62
35641386 2022
43
NAD+ deficiency in human congenital malformations and miscarriage: A new model of pleiotropy. 62
35484986 2022
44
Non-Isolated Neural Tube Defects with Comorbid Malformations Are Responsive to Population-Level Folic Acid Supplementation in Northern China. 62
36138850 2022
45
Influenza vaccination during pregnancy and risk of selected major structural noncardiac birth defects, National Birth Defects Prevention Study 2006-2011. 62
35366035 2022
46
Correlation between estimated fetal weight and weight at birth in infants with gastroschisis and omphalocele. 62
32814485 2022
47
An infant with patau syndrome associated with congenital heart defects. 62
36045789 2022
48
Clinical Spectrum and Tumour Risk Analysis in Patients with Beckwith-Wiedemann Syndrome Due to CDKN1C Pathogenic Variants. 62
35954470 2022
49
A Method of Conservative Management of Giant Omphalocele Useful in Preventing Rupture of Sac. 62
36057973 2022
50
Ruptured omphalocele with ischemic bowels. 62
35396198 2022

Variations for Omphalocele

ClinVar genetic disease variations for Omphalocele:

5
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PLOD1 NM_000302.4(PLOD1):c.1562G>A (p.Trp521Ter) SNV Pathogenic
374077 rs1057518879 GRCh37: 1:12025628-12025628
GRCh38: 1:11965571-11965571
2 PGAP2 NM_014489.4(PGAP2):c.97G>A (p.Ala33Thr) SNV Uncertain Significance
816936 rs1564998996 GRCh37: 11:3832586-3832586
GRCh38: 11:3811356-3811356
3 FLNA NM_001110556.2(FLNA):c.571G>T (p.Asp191Tyr) SNV Uncertain Significance
1683530 GRCh37: X:153596261-153596261
GRCh38: X:154367893-154367893
4 NEK9 NM_033116.6(NEK9):c.326ACA[1] (p.Asn110del) MICROSAT Uncertain Significance
1683733 GRCh37: 14:75590815-75590817
GRCh38: 14:75124112-75124114
5 overlap with 3 genes GRCh37/hg19 17p13.3(chr17:468095-661692)x1 CN LOSS Uncertain Significance
1704314 GRCh37: 17:468095-661692
GRCh38:
6 PTCH1 NM_000264.5(PTCH1):c.945+5G>T SNV Uncertain Significance
1700703 GRCh37: 9:98242667-98242667
GRCh38: 9:95480385-95480385
7 SPECC1L-ADORA2A, SPECC1L NM_015330.6(SPECC1L):c.1024A>G (p.Met342Val) SNV Uncertain Significance
1708334 GRCh37: 22:24717972-24717972
GRCh38: 22:24322004-24322004
8 LAMA5 NM_005560.6(LAMA5):c.857G>T (p.Arg286Leu) SNV Uncertain Significance
986382 rs962267864 GRCh37: 20:60926966-60926966
GRCh38: 20:62351910-62351910

Copy number variations for Omphalocele from CNVD:

6
# CNVD ID Chromosome 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 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:

# Super pathways Score Top Affiliating Genes
1 10.04 ROCK1 FLNA

GO Terms for Omphalocele

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

# Name GO ID Score Top Affiliating Genes
1 embryonic placenta morphogenesis GO:0060669 8.92 IGF2 CDKN1C

Sources for Omphalocele

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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