Aliases & Classifications for Omphalocele

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Sources:
11Disease Ontology, 13DISEASES, 27GTR, 30ICD10, 31ICD10 via Orphanet, 32ICD9CM, 39MeSH, 45NCIt, 50Novoseek, 54Orphanet, 62SNOMED-CT, 64The Human Phenotype Ontology, 68UMLS, 69UMLS via Orphanet
See all MalaCards sources

Aliases & Descriptions for Omphalocele:

Name: Omphalocele 11 54 27 50 13
Congenital Omphalocele 68
 
Omphalocoele 11

Characteristics:

Orphanet epidemiological data:

54
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:

64

Classifications:



External Ids:

Disease Ontology11 DOID:0060327
ICD1030 Q79.2
ICD9CM32 756.72
MeSH39 D006554
NCIt45 C98997
Orphanet54 ORPHA660
ICD10 via Orphanet31 Q79.2
UMLS via Orphanet69 C0795690
UMLS68 C0795690, C1306503

Summaries for Omphalocele

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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 neural tube defects and shprintzen omphalocele syndrome, and has symptoms including omphalocele, premature birth and omphalocele. An important gene associated with Omphalocele is CDKN1C (Cyclin Dependent Kinase Inhibitor 1C), and among its related pathways are Cobalamin (Cbl, vitamin B12) transport and metabolism and Endochondral Ossification. Affiliated tissues include liver, skin and heart, and related mouse phenotypes are normal and muscle.

Wikipedia:71 An omphalocele (British English: omphalocoele) is a rare abdominal wall defect in which the intestines,... more...

Related Diseases for Omphalocele

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

(show top 50)    (show all 111)
idRelated DiseaseScoreTop Affiliating Genes
1neural tube defects28.3AFP, MNX1, TCN2, ZIC3
2shprintzen omphalocele syndrome11.9
3omphalocele-cleft palate syndrome, lethal11.9
4omphalocele, exstrophy of the cloaca, imperforate anus, and spinal defects complex11.9
5diaphragmatic agenesis radial aplasia omphalocele11.7
6familial omphalocele syndrome with facial dysmorphism11.7
7abdominal wall defect11.7
8oeis complex11.3
9beckwith-wiedemann syndrome11.2
10gershoni-baruch syndrome11.2
11otopalatodigital syndrome, type ii11.1
12gastroschisis abdominal wall defects, included11.0
13manitoba oculotrichoanal syndrome10.9
14exstrophy of bladder bladder exstrophy and epispadias complex, included10.9
153mc syndrome 210.7
16donnai-barrow syndrome10.7
173mc syndrome 110.7
18pagod syndrome10.7
19brachial amelia, forebrain defects and facial clefts10.7
20game friedman paradice syndrome10.7
21gastroschisis10.5
22imperforate anus10.2
23serine deficiency10.1CD320, TCN2
24sertoli cell-only syndrome10.0AFP, MNX1
25mediastinum teratoma9.9AFP, MNX1
26congenital diaphragmatic hernia9.9
27birth defects9.9
28mercury poisoning9.8
29familial nephrotic syndrome9.8BMP1, FREM1
30hajdu-cheney syndrome9.8FLNA, GLI3
31small cell sarcoma9.8AFP, CDKN1C, MNX1
32anencephaly9.8
33hepatitis9.8
34esophagitis9.8
35down syndrome9.8
36ventricular septal defect9.8
37ectopia cordis9.8
38cryptorchidism9.7
39macroglossia9.7
40pulmonary hypertension9.7
41heart disease9.7
42fibrodysplasia ossificans progressiva9.7BMP1, BMPR1A
43prune belly syndrome9.6
44apert syndrome9.6
45craniorachischisis9.6
46holoprosencephaly9.6
47hypoplastic left heart syndrome9.6
48inguinal hernia9.6
49esophageal atresia9.6
50intestinal atresia9.6

Graphical network of the top 20 diseases related to Omphalocele:



Diseases related to omphalocele

Symptoms & Phenotypes for Omphalocele

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Human phenotypes related to Omphalocele:

 64 54
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 omphalocele64 54 hallmark (90%) Very frequent (99-80%) HP:0001539
2 premature birth64 54 hallmark (90%) Very frequent (99-80%) HP:0001622

UMLS symptoms related to Omphalocele:


disorder of umbilicus

MGI Mouse Phenotypes related to Omphalocele according to GeneCards Suite gene sharing:

41 (show all 14)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00028739.0ALX4, BMPR1A, FLNA, FREM1, MNX1, ZIC3
2MP:00053698.6ALX4, BMP1, BMPR1A, FREM1, MNX1, NUAK1
3MP:00053888.5ALX4, BMPR1A, FLNA, FREM1, GLI3, MNX1
4MP:00053718.4ALX4, BMP1, BMPR1A, FREM1, GLI3, ZIC3
5MP:00053808.4ALX4, BMP1, BMPR1A, GLI3, NUAK1, ZIC3
6MP:00053818.3ALX4, BMP1, FLNA, FREM1, GLI3, MNX1
7MP:00053898.2AFP, BMPR1A, CD320, FLNA, FREM1, GLI3
8MP:00036318.2ALX4, BMPR1A, FLNA, FREM1, GLI3, MNX1
9MP:00053858.0BMP1, BMPR1A, CD320, FLNA, GLI3, MNX1
10MP:00053827.8ALX4, BMP1, BMPR1A, FLNA, FREM1, GLI3
11MP:00053907.6ALX4, BMP1, BMPR1A, FLNA, FREM1, GLI3
12MP:00053917.4ALX4, BMPR1A, CD320, FLNA, FREM1, GLI3
13MP:00053787.4ALX4, BMP1, BMPR1A, FLNA, FREM1, GLI3
14MP:00107686.8AFP, ALX4, BMP1, BMPR1A, FLNA, FREM1

Drugs & Therapeutics for Omphalocele

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

(show all 11)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Folic Acidapproved, nutraceutical, vet_approvedPhase 3427959-30-36037
Synonyms:
(2S)-2-[[4-[(2-amino-4-oxo-1H-pteridin-6-yl)methylamino]benzoyl]amino]pentanedioic acid
01769_FLUKA
2d0k
33609-88-0
36653-55-1 (mono-potassium salt)
59-30-3
6484-89-5 (mono-hydrochloride salt)
AC-11682
AC1L1LNX
AI3-26387
AKOS000503224
ARONIS014410
Acfol (Spain)
Acide folique
Acide folique [INN-French]
Acido folico
Acido folico [INN-Spanish]
Acidum folicum
Acidum folicum [INN-Latin]
Acifolic
Antianemia factor
Apo-Folic
BIDD:ER0563
BIDD:GT0641
BIF0608
BPBio1_000654
BSPBio_000594
BSPBio_002338
C00504
C20H20N6O6
CAS-59-30-3
CCRIS 666
CHEBI:27470
CHEMBL1622
CID6037
CPD000471860
Cytofol
D00070
DB00158
DivK1c_000494
Dosfolat B activ
EINECS 200-419-0
F0043
F7876_SIAL
F7876_SIGMA
F8758_SIGMA
F8798_SIAL
F8890_SIGMA
FOL
Facid
Factor U
Folacid
Folacin
Folaemin
Folaemin [Netherlands]
Folan
Folasic (Australia)
Folate
Folbal
Folcidin
Folcidin (VAN)
Folcysteine
Foldine
Foldine [France]
Folettes
Foliamin
Folic
Folic acid
Folic acid (JP15/USP/INN)
Folic acid (TN)
Folic acid [BAN:INN:JAN]
Folic acid [INN:BAN:JAN]
Folic acid dihydrate
Folicet
Folicet (TN)
Folico
Folico (Italy)
Folina
Folina (Italy)
Folipac
Folsaeure
 
Folsan
Folsaure
Folsav
Folvite
Folvron
Glutamic acid, N-(p-(((2-amino-4-hydroxypyrimido(4,5-b)pyrazin-6-yl)methyl)amino)benzoyl)-, L
HMS1921D20
HMS2092N17
HMS501I16
HSDB 2002
IDI1_000494
InChI=1/C19H19N7O6/c20-19-25-15-14(17(30)26-19)23-11(8-22-15)7-21-10-3-1-9(2-4-10)16(29)24-12(18(31)32)5-6-13(27)28/h1-4,8,12,21H,5-7H2,(H,24,29)(H,27,28)(H,31,32)(H3,20,22,25,26,30)/t12-/m0/s
Incafolic
KBio1_000494
KBio2_001861
KBio2_004429
KBio2_006997
KBio3_001558
KBioGR_002222
KBioSS_001861
Kyselina listova
Kyselina listova [Czech]
LS-2157
Liver Lactobacillus casei factor
MLS001304016
MLS001335861
Millafol
Mission prenatal
Mittafol
MolPort-004-285-551
N-(4-(((2-Amino-1,4-dihydro-4-oxo-6-pteridinyl)methyl)amino)benzo- yl)-L-glutamic acid
N-(4-((2-Amino-1,4-dihydro-4-oxo-6-pteridinyl)methyl)amino)benzoyl)-L-glutamic acid
N-(4-{[(2-Amino-4-oxo-3,4-dihydropteridin-6-yl)methyl]amino}benzoyl)-L-glutamic acid
N-(4-{[(2-amino-4-oxo-1,4-dihydropteridin-6-yl)methyl]amino}benzoyl)-L-glutamic acid
N-(p-(((2-Amino-4-hydroxy-6-pteridinyl)methyl)amino)benzoyl)-L-glutamic acid
N-Pteroyl-L-glutamic acid
N-[(4-{[(2-Amino-4-oxo-1,4-dihydropteridin-6-yl)methyl]amino}phenyl)carbonyl]-L-glutamic acid
N-[(4-{[(2-amino-4-oxo-1,4-dihydropteridin-6-yl)methyl]amino}phenyl)carbonyl]-L-glutamic acid
N-[4-[[(2-Amino-3,4-dihydro-4-oxo-6-pteridinyl)methyl]amino]benzoyl]-L-glutamic acid
NCGC00016265-01
NCGC00142391-01
NINDS_000494
NSC 3073
Nifolin
Nifolin [Denmark]
Novofolacid
Novofolacid [Canada]
PGA
PGA (VAN)
Prestwick3_000627
Prestwick_230
PteGlu
Pteroyl-L-glutamate
Pteroyl-L-glutamic acid
Pteroyl-L-monoglutamate
Pteroyl-L-monoglutamic acid
Pteroylglutamate
Pteroylglutamic acid
Pteroylmonoglutamate
Pteroylmonoglutamic acid
SAM002264616
SDCCGMLS-0066738.P001
SMP2_000137
SMR000471860
SPBio_001357
SPECTRUM1502020
Serum Folate Level
Spectrum2_001459
Spectrum3_000749
Spectrum4_001751
Spectrum5_000602
Spectrum_001381
UNII-935E97BOY8
Usaf cb-13
Vitamin B11
Vitamin B9
Vitamin Bc
Vitamin Be
Vitamin M
bmse000299
folic acid
nchembio.108-comp10
2Vitamin B ComplexPhase 34229
3VitaminsPhase 35095
4MicronutrientsPhase 35802
5Trace ElementsPhase 35802
6HematinicsPhase 31630
7Folinic AcidNutraceuticalPhase 33150
8Vitamin B9NutraceuticalPhase 34279
9FolateNutraceuticalPhase 34279
10Pharmaceutical Solutions7793
11lysineNutraceutical90

Interventional clinical trials:

idNameStatusNCT IDPhase
1Folic Acid Dosage and Malformations ReductionUnknown statusNCT01244347Phase 3
2Elemental Formula in Neonates Post Small Bowel Resection: Improved Weaning From Total Parenteral Nutrition?Unknown statusNCT01891279
3Determination of Lysine Requirement in the Parenterally Fed NeonateCompletedNCT00779753

Search NIH Clinical Center for Omphalocele

Genetic Tests for Omphalocele

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Genetic tests related to Omphalocele:

id Genetic test Affiliating Genes
1 Omphalocele27

Anatomical Context for Omphalocele

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MalaCards organs/tissues related to Omphalocele:

36
Liver, Skin, Heart, Small intestine, Lung, Spleen, Kidney

Publications for Omphalocele

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Articles related to Omphalocele:

(show top 50)    (show all 564)
idTitleAuthorsYear
1
Umbilical cord sparing technique for repair of congenital hernia into the cord and small omphalocele. (27837991)
2017
2
HDlive imaging of a giant omphalocele. (27299988)
2016
3
Topical Iodine-Induced Thyrotoxicosis in a Newborn with a Giant Omphalocele. (27551578)
2016
4
Thoracic heteropagus conjoined twins associated to an omphalocele: Report of a case and complete review of the literature. (28051055)
2016
5
Congenital omphalocele and cleft palate in two fetuses. (26867152)
2016
6
Omphalocele-Exstrophy-Imperforate Anus-Spinal Defects Complex: Associated Malformations in 12 New Cases. (27160889)
2016
7
Negative pressure wound therapy for initial management of giant omphalocele. (26778271)
2016
8
Repair of Postoperative Abdominal Hernia in a Child with Congenital Omphalocele Using Porcine Dermal Matrix. (27110247)
2016
9
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
10
Pulmonary hypertension predicts mortality in infants with omphalocele. (26836821)
2016
11
Herniated liver mimicking an intracardiac mass in a newborn with omphalocele. (27720185)
2016
12
The Impact of Breast Milk, Respiratory Insufficiency and GERD on Enteral Feeding in Infants with Omphalocele. (27820755)
2016
13
Antenatal diagnosis of isolated omphalocele. (26523175)
2015
14
Are all pulmonary hypoplasias the same? A comparison of pulmonary outcomes in neonates with congenital diaphragmatic hernia, omphalocele and congenital lung malformation. (25598093)
2015
15
First-trimester diagnosis of recurrent omphalocele associated with fetal trisomy 18 but without parental mosaicism. (25951728)
2015
16
Correspondence surveillance of gastroschisis and omphalocele: ICD-9 and ICD-10 codes! (25546284)
2015
17
Giant Omphalocele in an Adolescent Boy. (26139974)
2015
18
Extended Component Separation for Repair of High Ventral Hernia in Pediatric Omphalocele. (26495216)
2015
19
Systemic hypertension in giant omphalocele: An underappreciated association. (25783355)
2015
20
Patient characteristics are important determinants of neurodevelopmental outcome during infancy in giant omphalocele. (25676186)
2015
21
Can omphalocele ratio predict postnatal outcomes? (26541312)
2015
22
Frequency and complications of inguinal hernia repair in giant omphalocele. (26078212)
2015
23
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
24
Prenatal Prediction of the Type of Omphalocele Closure by Different Medical Consultants. (26066620)
2015
25
Septo-optic Dysplasia Complex with Omphalocele, Pre-maxillary Agenesis and Encephalocele. (25848158)
2015
26
Omphalocele major with absent lower limb. (25829718)
2015
27
Omphalocele, Inguino-scrotal Hernia and Primary Pulmonary Hypertension: A Rare Combination in a Neonate. (26138579)
2015
28
Registry analysis supports different mechanisms for gastroschisis and omphalocele within shared developmental fields. (26138114)
2015
29
Concomitant omphalocele, anencephaly and arthrogryposis associated with trisomy 18. (26043511)
2015
30
GAD65/GAD67 double knockout mice exhibit intermediate severity in both cleft palate and omphalocele compared with GAD67 knockout and VGAT knockout mice. (25545713)
2015
31
Multilayered Flap Technique: A Method for Delayed Closure of Giant Omphalocele. (26207550)
2015
32
Interrupted inferior vena cava in fetuses with omphalocele. Case series of fetuses referred for fetal echocardiography and review of the literature. (25460249)
2015
33
Prevalence, Correlates, and Outcomes of Omphalocele in the United States, 1995-2005. (26241416)
2015
34
Use of small intestinal submucosal and acellular dermal matrix grafts in giant omphaloceles in neonates and a rabbit abdominal wall defect model. (26364879)
2015
35
CO-OCCURRENCE OF NEURAL TUBE DEFECT, THORACAL DEFECT AND OMPHALOCELE: A RARE CASE AND REVIEW OF THE LITERATURE. (26349198)
2015
36
Large Hernia of Umbilical Cord Misdiagnosed as Omphalocele. (26290818)
2015
37
Management of a Giant Omphalocele with Non-Cross-Linked Intact Porcine-Derived Acellular Dermal Matrix (Strattice) Combined with Vacuum Therapy. (26788448)
2015
38
Prenatal examination and postmortem findings in fetuses with gastroschisis and omphalocele. (24604302)
2014
39
Gastroschisis, omphalocele or something else? (23531629)
2014
40
Past and present in omphalocele treatment in Romania. (25149614)
2014
41
Prenatal imaging of a fetus with the rare combination of a right congenital diaphragmatic hernia and a giant omphalocele. (25059273)
2014
42
Apert syndrome with omphalocele: a case report. (25045033)
2014
43
Perinatal mortality in pregnancies with omphalocele: data from the Chinese national birth defects monitoring network, 1996-2006. (24953381)
2014
44
Upper Urinary Tract Abnormalities: AA Case of Bilateral Kidneys Within a Left-sided Omphalocele. (25239257)
2014
45
Ruptured omphalocele mimicking gastroschisis in a fetus with edwards syndrome. (24132880)
2014
46
Differential diagnosis of abdominal wall defects - omphalocele versus gastroschisis. (24524464)
2014
47
A newborn with omphalocele and umbilical cord cyst: an interesting entity. (25755870)
2014
48
Pulmonary hypertension in giant omphalocele infants. (25487480)
2014
49
Re: Urological outcomes in the omphalocele exstrophy imperforate anus spinal defects (OEIS) complex: experience with 80 patients. (24703152)
2014
50
Liver developed entirely outside the abdominal cavity in adult omphalocele. (24869988)
2014

Variations for Omphalocele

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Copy number variations for Omphalocele from CNVD:

6
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
11371372138750000144750000DeletionARHGAP15Omphalocele
21371412138750000144750000DeletionGTDC1Omphalocele
31371452138750000144750000DeletionHNMTOmphalocele
41371492138750000144750000DeletionKYNUOmphalocele
51371532138750000144750000DeletionLOC64702Omphalocele
61371572138750000144750000DeletionLRP1BOmphalocele
71371612138750000144750000DeletionNXPH2Omphalocele
81371652138750000144750000DeletionSPOPLOmphalocele

Expression for genes affiliated with Omphalocele

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Search GEO for disease gene expression data for Omphalocele.

Pathways for genes affiliated with Omphalocele

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Pathways related to Omphalocele according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
19.8CD320, TCN2
29.2BMPR1A, CDKN1C, GLI3

GO Terms for genes affiliated with Omphalocele

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

(show all 15)
idNameGO IDScoreTop Affiliating Genes
1cobalamin metabolic processGO:000923510.5CD320, TCN2
2cobalamin transportGO:001588910.5CD320, TCN2
3limb morphogenesisGO:003510810.4ALX4, GLI3
4developmental growthGO:004858910.2BMPR1A, GLI3
5dorsal/ventral pattern formationGO:000995310.2BMPR1A, GLI3
6embryonic morphogenesisGO:004859810.2BMPR1A, GLI3
7regulation of cellular senescenceGO:200077210.2BMPR1A, NUAK1
8embryonic digit morphogenesisGO:00427339.9ALX4, BMPR1A, GLI3
9palate developmentGO:00600219.9ALX4, BMPR1A, GLI3
10lung developmentGO:00303249.7BMPR1A, GLI3, ZIC3
11regulation of apoptotic processGO:00429819.5ALX4, BMP1, GLI3
12anterior/posterior pattern specificationGO:00099529.4ALX4, BMPR1A, GLI3, ZIC3
13pattern specification processGO:00073899.4ALX4, BMPR1A, GLI3, ZIC3
14positive regulation of transcription, DNA-templatedGO:00458939.4BMPR1A, CDKN1C, GLI3, ZIC3
15skeletal system developmentGO:00015019.1ALX4, BMP1, CDKN1C

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

idNameGO IDScoreTop Affiliating Genes
1cobalamin bindingGO:003141910.6CD320, TCN2
2sequence-specific DNA bindingGO:00435658.8ALX4, GLI3, MNX1, ZIC3
3metal ion bindingGO:00468728.1AFP, BMPR1A, FREM1, GLI3, NUAK1, TCN2

Sources for Omphalocele

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet