MCID: OMP004
MIFTS: 52

Omphalocele malady

Categories: Fetal diseases, Rare diseases

Aliases & Classifications for Omphalocele

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Sources:
10Disease Ontology, 47Novoseek, 12DISEASES, 51Orphanet, 65UMLS, 27ICD10, 29ICD9CM, 36MeSH, 42NCIt, 59SNOMED-CT, 28ICD10 via Orphanet, 66UMLS via Orphanet, 61The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Omphalocele:

Name: Omphalocele 10 47 12 51
Congenital Omphalocele 65
 
Omphalocoele 10

Characteristics:

Orphanet epidemiological data:

51
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:

61


Classifications:



External Ids:

Disease Ontology10 DOID:0060327
ICD1027 Q79.2
ICD9CM29 756.72
MeSH36 D006554
NCIt42 C98997
Orphanet51 660
ICD10 via Orphanet28 Q79.2
UMLS via Orphanet66 C0795690
UMLS65 C0795690, C1306503

Summaries for Omphalocele

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Disease Ontology:10 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 omphalocele, exstrophy of the cloaca, imperforate anus, and spinal defects complex, 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, t cells and prostate, and related mouse phenotypes are respiratory system and vision/eye.

Wikipedia:68 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 103)
idRelated DiseaseScoreTop Affiliating Genes
1neural tube defects28.5MTHFD1, SLC19A1, TCN2, ZIC3
2omphalocele, exstrophy of the cloaca, imperforate anus, and spinal defects complex12.2
3shprintzen omphalocele syndrome12.1
4omphalocele cleft palate syndrome lethal12.0
5diaphragmatic agenesis radial aplasia omphalocele11.9
6familial omphalocele syndrome with facial dysmorphism11.9
7gershoni-baruch syndrome11.3
8brachial amelia, forebrain defects and facial clefts10.9
9game friedman paradice syndrome10.9
10pagod syndrome10.9
11abdominal wall defect10.7
12gastroschisis10.7
13beckwith-wiedemann syndrome10.6
14otopalatodigital syndrome, type ii10.4
15imperforate anus10.3
16cerebral folate receptor alpha deficiency10.0CD320, TCN2
17manitoba oculotrichoanal syndrome10.0
18congenital diaphragmatic hernia10.0
19mercury poisoning10.0
20anencephaly9.9
21hepatitis9.9
22esophagitis9.9
23down syndrome9.9
24ventricular septal defect9.9
25ectopia cordis9.9
26basal cell nevus syndrome9.9BMPR1A, GLI3
273mc syndrome 29.9
28donnai-barrow syndrome9.9
293mc syndrome 19.9
30cryptorchidism9.9
31pulmonary hypertension9.9
32heart disease9.9
33congenital heart disease9.9
34macroglossia9.9
35prune belly syndrome9.8
36apert syndrome9.8
37craniorachischisis9.8
38holoprosencephaly9.8
39hypoplastic left heart syndrome9.8
40inguinal hernia9.8
41esophageal atresia9.8
42intestinal atresia9.8
43turner syndrome9.8
44polyhydramnios9.8
45duodenitis9.8
46hypoglycemia9.8
47encephalocele9.8
48pentalogy of cantrell9.8
49sirenomelia9.8
50acute lymphocytic leukemia9.7MTHFD1, SLC19A1

Graphical network of the top 20 diseases related to Omphalocele:



Diseases related to omphalocele

Symptoms for Omphalocele

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Symptoms:

 51
  • omphalocele/exomphalos
  • autosomal dominant inheritance
  • stillbirth/neonatal death
  • prematurity

HPO human phenotypes related to Omphalocele:

id Description Frequency HPO Source Accession
1 omphalocele hallmark (90%) HP:0001539
2 premature birth hallmark (90%) HP:0001622
3 omphalocele HP:0001539

UMLS symptoms related to Omphalocele:


disorder of umbilicus

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, nutraceuticalPhase 3292459-30-36037
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
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
2VitaminsPhase 33857
3MicronutrientsPhase 33901
4Trace ElementsPhase 33900
5HematinicsPhase 31121
6Vitamin B ComplexPhase 32847
7Folinic AcidNutraceuticalPhase 32604
8Vitamin B9NutraceuticalPhase 32924
9FolateNutraceuticalPhase 32924
10Pharmaceutical Solutions7004
11lysineNutraceutical77

Interventional clinical trials:

idNameStatusNCT IDPhase
1Folic Acid Dosage and Malformations ReductionActive, not recruitingNCT01244347Phase 3
2Determination of Lysine Requirement in the Parenterally Fed NeonateCompletedNCT00779753
3Elemental Formula in Neonates Post Small Bowel Resection: Improved Weaning From Total Parenteral Nutrition?RecruitingNCT01891279

Search NIH Clinical Center for Omphalocele

Genetic Tests for Omphalocele

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Anatomical Context for Omphalocele

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MalaCards organs/tissues related to Omphalocele:

33
Liver, T cells, Prostate, Endothelial, Lung, Thyroid, Breast

Animal Models for Omphalocele or affiliated genes

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MGI Mouse Phenotypes related to Omphalocele:

38 (show all 13)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053888.6ALX4, BMPR1A, FLNA, FREM1, GLI3, ZIC3
2MP:00053917.9ALX4, BMPR1A, CD320, FLNA, FREM1, GLI3
3MP:00053717.7ALX4, BMP1, BMPR1A, FREM1, GLI3, MTHFD1
4MP:00053897.7BMPR1A, CD320, FLNA, FREM1, GLI3, SLC19A1
5MP:00036317.6ALX4, BMPR1A, FLNA, FREM1, GLI3, MTHFD1
6MP:00053907.6ALX4, BMP1, BMPR1A, FLNA, FREM1, GLI3
7MP:00053817.5ALX4, BMP1, FLNA, FREM1, GLI3, SLC19A1
8MP:00053827.4ALX4, BMP1, BMPR1A, FLNA, FREM1, GLI3
9MP:00053857.2BMP1, BMPR1A, CD320, FLNA, GLI3, MTHFD1
10MP:00053806.9ALX4, BMP1, BMPR1A, GLI3, MTHFD1, NUAK1
11MP:00053976.6BMP1, BMPR1A, CD320, FLNA, MTHFD1, SLC19A1
12MP:00107686.0ALX4, BMP1, BMPR1A, FLNA, FREM1, GLI3
13MP:00053786.0ALX4, BMP1, BMPR1A, FLNA, FREM1, GLI3

Publications for Omphalocele

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Articles related to Omphalocele:

(show top 50)    (show all 558)
idTitleAuthorsYear
1
Septo-optic Dysplasia Complex with Omphalocele, Pre-maxillary Agenesis and Encephalocele. (25848158)
2015
2
Prenatal examination and postmortem findings in fetuses with gastroschisis and omphalocele. (24604302)
2014
3
Anomalies associated with gastroschisis and omphalocele: analysis of 2825 cases from the Texas Birth Defects Registry. (24726103)
2014
4
Gastroschisis, omphalocele or something else? (23531629)
2014
5
Past and present in omphalocele treatment in Romania. (25149614)
2014
6
Prenatal imaging of a fetus with the rare combination of a right congenital diaphragmatic hernia and a giant omphalocele. (25059273)
2014
7
Esophageal atresia, small omphalocele and ileal prolapse through a patent omphalomesenteric duct: a methamizole embryopathy? (23845657)
2013
8
Functional, motor developmental, and long-term outcome after the component separation technique in children with giant omphalocele: a case control study. (23480906)
2013
9
Urological outcomes in the omphalocele exstrophy imperforate anus spinal defects (OEIS) complex: experience with 80 patients. (22640865)
2013
10
Disturbance of SHH signalling pathway during early embryogenesis in the cadmium-induced omphalocele chick model. (23124188)
2013
11
Presenilin genes are downregulated during somitogenesis in the cadmium-induced omphalocele chick model. (21986620)
2012
12
Prenatal findings of omphalocele-exstrophy of the bladder-imperforate anus-spinal defects (OEIS) complex. (22925220)
2012
13
Omphalocele management using goal-oriented classification in African centre with limited resources. (20923791)
2011
14
Progression of a giant omphalocele in utero: ultrasound and fetal magnetic resonance imaging findings. (20956851)
2010
15
Discordant omphalocele-exstrophy-imperforate anus-spinal defects (OEIS) complex and cardiac malformations in monochorionic twins. (19842883)
2009
16
Esophageal obstruction and intracardiac "mass" in association with omphalocele closure. (19231555)
2009
17
Mechanical compression with secondary ischemia as a possible cause of atresias associated with omphalocele. (20006004)
2009
18
Omphalocele minor associated with complete absence of the large bowel. (19517123)
2009
19
Ruptured omphalocele in thoracoomphalopagus conjoined twins. (20187515)
2009
20
Delayed three-stage closure of giant omphalocele using pericard patch. (17628735)
2008
21
Ruptured omphalocele with extracorporeal intestines mimicking gastroschisis in a fetus with Turner syndrome. (17694577)
2007
22
The use of human acellular dermis in the operative management of giant omphalocele. (16410136)
2006
23
Use of sterile adhesive film and polypropylene mesh in the construction of a temporary silo in the treatment of omphalocele. (16034555)
2005
24
Omphalocele: clinical review and surgical experience using dura patch grafts. (12152643)
2002
25
Management of neglected giant omphalocele with Gore-tex in a child aged 8 years. (12244283)
2002
26
Association between multiple intestinal atresia and omphalocele: a case report. (11486351)
2001
27
Omphalocele, colonic atresia, and Hirschsprung's disease: an unusual cluster of malformations in a single patient. (11315294)
2001
28
Perforation of small intestine inside an internal omphalocele after blunt trauma: case report and review of the literature. (11242304)
2001
29
Monosomy X and omphalocele. (9110374)
1997
30
Respiratory insufficiency at birth: a predictor of mortality for infants with omphalocele. (8863240)
1996
31
Omphalocele and gastroschisis in Europe: a survey of 3 million births 1980-1990. EUROCAT Working Group. (8533813)
1995
32
Down syndrome and omphalocele: an underrecognized association. (8115219)
1994
33
A fetus with sirenomelia, omphalocele, and meningomyelocele, but normal kidneys. (7801305)
1994
34
Genetic-epidemiologic study of omphalocele and gastroschisis: evidence for heterogeneity. (1481831)
1992
35
Omphalocele at 15 weeks. (2668810)
1989
36
Sonographic diagnosis of omphalocele in the first trimester of fetal gestation. (3279232)
1988
37
Abdominal wall defects: omphalocele and gastroschisis (continuing education credit). (2961975)
1987
38
Simultaneous superior and inferior vena cava pressure recordings in giant omphalocele repair--a possible guideline for prevention of postoperative circulatory complications. (4090743)
1985
39
Omphalocele, hernia of the umbilical cord and gastroschisis. (6232916)
1983
40
Omphalocele and multiple severe congenital anomalies associated with osteodysplasty (Melnick-Needles syndrome). (7158644)
1982
41
Congenital abdominal wall defects: gastroschisis and omphalocele. (6211335)
1982
42
Treatment of gastroschisis and omphalocele. (6212638)
1982
43
Etiological study of omphalocele. (7327560)
1981
44
Immediate permanent fascial prosthesis for gastroschisis and massive omphalocele. (6454268)
1981
45
Antenatal diagnosis of omphalocele by ultrasound: case report with a brief review of the literature. (7252945)
1981
46
Omphalocele and partial trisomy 1q syndrome. (535894)
1979
47
Perinatal aspects of omphalocele and gastroschisis. (930890)
1977
48
Omphalocele. (136050)
1976
49
Polyhydramnios and omphalocele. (132570)
1976
50

Variations for Omphalocele

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Expression for genes affiliated with Omphalocele

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Search GEO for disease gene expression data for Omphalocele.

GO Terms for genes affiliated with Omphalocele

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

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1limb morphogenesisGO:003510810.3ALX4, GLI3
2embryonic skeletal system morphogenesisGO:004870410.2ALX4, GLI3
3embryonic digit morphogenesisGO:004273310.0BMPR1A, GLI3
4developmental growthGO:00485899.9BMPR1A, GLI3
5folic acid metabolic processGO:00466559.6MTHFD1, SLC19A1
6anterior/posterior pattern specificationGO:00099529.3BMPR1A, GLI3, ZIC3
7pattern specification processGO:00073899.1ALX4, BMPR1A, ZIC3
8positive regulation of transcription, DNA-templatedGO:00458938.8BMPR1A, CDKN1C, GLI3, ZIC3
9water-soluble vitamin metabolic processGO:00067678.4CD320, MTHFD1, SLC19A1, TCN2

Sources for Omphalocele

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet