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

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 omphalocele, exstrophy of the cloaca, imperforate anus, and spinal defects complex and shprintzen omphalocele syndrome, and has symptoms including Array, Array and omphalocele. An important gene associated with Omphalocele is GJB2 (Gap Junction Protein Beta 2), 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 respiratory system and digestive/alimentary.

Wikipedia:71 Omphalocele, also spelled omphalocoele, is a rare abdominal wall defect in which the intestines, liver,... 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 114)
idRelated DiseaseScoreTop Affiliating Genes
1omphalocele, exstrophy of the cloaca, imperforate anus, and spinal defects complex12.1
2shprintzen omphalocele syndrome11.9
3omphalocele-cleft palate syndrome, lethal11.9
4diaphragmatic agenesis radial aplasia omphalocele11.7
5familial omphalocele syndrome with facial dysmorphism11.7
6abdominal wall defect11.7
7oeis complex11.3
8beckwith-wiedemann syndrome11.2
9gershoni-baruch syndrome11.2
10otopalatodigital syndrome, type ii11.1
11gastroschisis abdominal wall defects, included11.0
12manitoba oculotrichoanal syndrome10.9
13exstrophy of bladder bladder exstrophy and epispadias complex, included10.9
143mc syndrome 210.7
15donnai-barrow syndrome10.7
163mc syndrome 110.7
17pagod syndrome10.7
18brachial amelia, forebrain defects and facial clefts10.7
19game friedman paradice syndrome10.7
20gastroschisis10.5
21imperforate anus10.2
22coenzyme q10 deficiency disease10.1CD320, TCN2
23seizures, benign familial infantile, 310.0BMP1, BMPR1A
24severe combined immunodeficiency9.9AFP, MNX1
25dressler's syndrome9.9GLI3, MNX1
26mucositis9.9AFP, MNX1
27neural tube defects9.9
28congenital diaphragmatic hernia9.9
29birth defects9.9
30mercury poisoning9.8
31anencephaly9.8
32hepatitis9.8
33bladder exstrophy9.8
34esophagitis9.8
35down syndrome9.8
36ventricular septal defect9.8
37ectopia cordis9.8
38cryptorchidism9.7
39macroglossia9.7
40pulmonary hypertension9.7
41heart disease9.7
42toxascariasis9.7AFP, CDKN1C, MNX1
43fibrous dysplasia9.7AFP, FLNA, GLI3, MNX1
44prune belly syndrome9.6
45apert syndrome9.6
46craniorachischisis9.6
47holoprosencephaly9.6
48hypoplastic left heart syndrome9.6
49inguinal hernia9.6
50cloacal exstrophy9.6

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:

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

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

41 (show all 14)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053888.5ALX4, BMPR1A, FLNA, GLI3, MNX1, ZIC3
2MP:00053818.4ALX4, BMP1, FLNA, GLI3, MNX1, ZIC3
3MP:00053718.4ALX4, BMP1, BMPR1A, GJB2, GLI3, ZIC3
4MP:00028738.3ALX4, BMPR1A, FLNA, GJB2, GLI3, MNX1
5MP:00053808.1ALX4, BMP1, BMPR1A, GJB2, GLI3, NUAK1
6MP:00053898.0AFP, BMPR1A, CD320, FLNA, GJB2, GLI3
7MP:00036317.9ALX4, BMPR1A, FLNA, GJB2, GLI3, MNX1
8MP:00053827.8ALX4, BMP1, BMPR1A, FLNA, GJB2, GLI3
9MP:00053857.6BMP1, BMPR1A, CD320, FLNA, GJB2, GLI3
10MP:00053907.5ALX4, BMP1, BMPR1A, FLNA, GJB2, GLI3
11MP:00053767.5AFP, BMP1, BMPR1A, CD320, FLNA, GJB2
12MP:00053787.3ALX4, BMP1, BMPR1A, FLNA, GJB2, GLI3
13MP:00053917.1ALX4, BMPR1A, CD320, FLNA, GJB2, GLI3
14MP:00107686.8AFP, ALX4, BMP1, BMPR1A, FLNA, GJB2

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
leucovorinapproved, NutraceuticalPhase 3323558-05-954575, 6560146, 143
Synonyms:
(5-formyl-5,6,7,8-tetrahydropteroyl)glutamate
(6R,S)-5-Formyltetrahydrofolate
10-Formyl-7,8-dihydrofolate
10-Formyl-7,8-dihydrofolic acid
5-Formyl-5,6,7,8-tetrahydrofolate
5-Formyl-5,6,7,8-tetrahydrofolic acid
5-Formyl-5,6,7,8-tetrahydropteroyl-L-glutamic acid
5-Formyltetrahydrofolate
5-Formyltetrahydrofolic acid
5-Formyltetrahydropteroylglutamate
5-Formyltetrahydropteroylglutamic acid
5-formyltetrahydrofolic acid
Acide folinique
Calcium citrovorum factor
Calcium folinate
Citrovorum factor
Folinate
Folinic acid
Folinic acid calcium salt
 
Folinic acid calcium salt USP27
Folinic acid-SF
L(-)-5-Formyl-5,6,7,8-tetrahydrofolic acid
L-Leucovorin
L-N-[p-[[(2-Amino-5-formyl-5,6,7,8-tetrahydro-4-hydroxy-6-pteridinyl)methyl]amino]benzoyl]-Glutamic acid
L-leucovorin
Leucal
Leucovorin calcium
Leucovorin folinic acid
Leucovorinum
Leukovorin
Levoleucovorin
N-(5-formyl-5,6,7,8-tetrahydropteroyl)-L-glutamic acid
N5-Formyl-5,6,7,8-tetrahydrofolate
N5-Formyl-5,6,7,8-tetrahydrofolic acid
N5-Formyl-THF
N5-Formyltetrahydrofolate
N5-Formyltetrahydrofolic acid
Welcovorin
Wellcovorin
folinate
2
Folic Acidapproved, nutraceutical, vet_approvedPhase 3439259-30-36037
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
3Vitamin B ComplexPhase 34337
4VitaminsPhase 35282
5Trace ElementsPhase 36001
6MicronutrientsPhase 36001
7HematinicsPhase 31684
8Vitamin B9NutraceuticalPhase 34392
9FolateNutraceuticalPhase 34392
10Pharmaceutical Solutions8192
11lysineNutraceutical98

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
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

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Clinvar genetic disease variations for Omphalocele:

5
id Gene Variation Type Significance SNP ID Assembly Location
1GJB2NM_ 004004.5(GJB2): c.269T> C (p.Leu90Pro)SNVPathogenicrs80338945GRCh37Chr 13, 20763452: 20763452

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
4regulation of cellular senescenceGO:200077210.2BMPR1A, NUAK1
5developmental growthGO:004858910.2BMPR1A, GLI3
6dorsal/ventral pattern formationGO:000995310.2BMPR1A, GLI3
7embryonic morphogenesisGO:004859810.2BMPR1A, GLI3
8embryonic organ developmentGO:004856810.2BMPR1A, GLI3
9embryonic digit morphogenesisGO:00427339.9ALX4, BMPR1A, GLI3
10palate developmentGO:00600219.9ALX4, BMPR1A, GLI3
11lung developmentGO:00303249.4BMPR1A, GLI3, ZIC3
12skeletal system developmentGO:00015019.3ALX4, BMP1, CDKN1C
13anterior/posterior pattern specificationGO:00099529.1ALX4, BMPR1A, GLI3, ZIC3
14pattern specification processGO:00073899.1ALX4, BMPR1A, GLI3, ZIC3
15positive regulation of transcription, DNA-templatedGO:00458939.0BMPR1A, CDKN1C, GLI3, ZIC3

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

idNameGO IDScoreTop Affiliating Genes
1cobalamin bindingGO:003141910.4CD320, TCN2
2sequence-specific DNA bindingGO:00435658.5ALX4, GLI3, MNX1, ZIC3

Sources for Omphalocele

About this section
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