MCID: OMP004
MIFTS: 47

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 omphalocele, exstrophy of the cloaca, imperforate anus, and spinal defects complex 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, lung and t cells, 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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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

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

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Genetic Tests for Omphalocele

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Anatomical Context for Omphalocele

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MalaCards organs/tissues related to Omphalocele:

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

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 549)
idTitleAuthorsYear
1
Singer K, Bornstein FP, Wile SA. Thrombotic thrombocytopenic purpura. Blood. 1947;2(6):542-554. (26769767)
2016
2
Dysregulated microRNA-224/apelin axis associated with aggressive progression and poor prognosis in patients with prostate cancer. (25532941)
2015
3
Critical role of miR-10b in transforming growth factor-I^1-induced epithelial-mesenchymal transition in breast cancer. (24457988)
2014
4
Elevated MMP-9 in the lumbar cord early after thoracic spinal cord injury impedes motor relearning in mice. (23926264)
2013
5
Rituximab use in the catastrophic antiphospholipid syndrome: Descriptive analysis of the CAPS registry patients receiving rituximab. (23777822)
2013
6
Human pathogenic fungus Trichophyton schoenleinii activates the NLRP3 inflammasome. (23686720)
2013
7
Complexities of CYP2D6 gene analysis and interpretation. (24151800)
2013
8
Living from day to day - qualitative study on borderline personality disorder in adolescence. (24223047)
2013
9
Further replication studies of the EVE Consortium meta-analysis identifies 2 asthma risk loci in European Americans. (23040885)
2012
10
Neuromyelitis optica lesions may inform multiple sclerosis heterogeneity debate. (23034911)
2012
11
Interaction of dental erosion and bruxism: the amplification of tooth wear. (21675679)
2011
12
Killing a killer: what next for smallpox? (20126444)
2010
13
All patients with 'idiopathic' hypopituitarism should be screened for hemochromatosis. (18270843)
2009
14
The colorectal cancer risk at 18q21 is caused by a novel variant altering SMAD7 expression. (19395656)
2009
15
MCP-1 and CCR2 gene polymorphisms in Czech patients with allergic disorders. (19055601)
2009
16
Low prevalence of NPHS2 mutations in African American children with steroid-resistant nephrotic syndrome. (18543005)
2008
17
Mechanical signals modulated vascular endothelial growth factor-A (VEGF-A) alternative splicing in osteoblastic cells through actin polymerisation. (18374641)
2008
18
The heterodimeric assembly of the CD94-NKG2 receptor family and implications for human leukocyte antigen-E recognition. (18083576)
2007
19
Anticholinesterase activity of plastoquinones from Sargassum sagamianum: lead compounds for Alzheimer's disease therapy. (17236179)
2007
20
Comparative genomics search for losses of long-established genes on the human lineage. (18085818)
2007
21
A quartet of lateral sinus thrombosis, extradural abscess, subdural abscess and occipital abscess: complications of acute mastoiditis in a pre-adolescent child. (16859571)
2006
22
Aldose reductase inhibitors improve myocardial reperfusion injury in mice by a dual mechanism. (16936455)
2006
23
Clinical and genetic variability of oculodentodigital dysplasia. (16813608)
2006
24
A genome-wide screen reveals functional gene clusters in the cancer genome and identifies EphA2 as a mitogen in glioblastoma. (17090523)
2006
25
DNA hypermethylation of tumor-related genes in gastric carcinoma. (15831994)
2005
26
The implications of the upregulation of ICAM-1/VCAM-1 expression of corneal fibroblasts on the pathogenesis of allergic keratopathy. (16303942)
2005
27
Levels of plasma ACTH in men from infertile couples. (16136011)
2005
28
Lack of correlation between the levels of soluble cytotoxic T-lymphocyte associated antigen-4 (CTLA-4) and the CT-60 genotypes. (16259622)
2005
29
Increased total number but impaired migratory activity and adhesion of endothelial progenitor cells in patients on long-term hemodialysis. (15492950)
2004
30
Concurrent sino-orbital aspergillosis and cerebral nocardiosis. (15179067)
2004
31
A historical aspect of lysinuric protein intolerance in a northern part of Iwate, Japan. (12713148)
2003
32
Spontaneous chromosome loss and colcemid resistance in lymphocytes from patients with myotonic dystrophy type 1. (14526184)
2003
33
Immunoglobulin subclasses and HLA alleles in immunoglobulin A deficiency. (12841399)
2003
34
Comparison of immunohistochemistry with reverse transcription-PCR for the detection of micrometastatic prostate cancer in lymph nodes. (12907647)
2003
35
Filippi syndrome: a specific MCA/MR complex within the spectrum of so called "craniodigital syndromes". Report of an additional patient with a peculiar mpp and review of the literature. (12416644)
2002
36
Developmental expression of catenins and associated proteins during submucosal gland morphogenesis in the airway. (11258801)
2001
37
Phosphorylation of eIF-4E on Ser 209 in response to mitogenic and inflammatory stimuli is faithfully detected by specific antibodies. (10891393)
2000
38
Interferon regulatory factor 1 mediates the interferon-gamma induction of the human immunoproteasome subunit multicatalytic endopeptidase complex-like 1. (10575004)
1999
39
The activation of platelet function, coagulation, and fibrinolysis during radiofrequency catheter ablation in heparinized patients. (10355691)
1999
40
Increased levels of IL-5 positive peripheral blood eosinophils and lymphocytes in mild asthmatics after allergen inhalation provocation. (10231318)
1999
41
Controversies in the approach to ophthalmia neonatorum. (9063327)
1997
42
Heparin neutralization by recombinant platelet factor 4 and protamine. (7598278)
1995
43
Home treatment with intravenous enzyme replacement therapy for Gaucher disease: an international collaborative study of 33 patients. (8353277)
1993
44
Correlation between serum immunoglobulin A concentrations and allergic manifestations in infants. (1625088)
1992
45
Normal human chromosome 5, on which a familial adenomatous polyposis gene is located, has tumor suppressive activity. (1846539)
1991
46
Lung cancer risk among pneumoconiosis patients in Japan, with special reference to silicotics. (2164508)
1990
47
Ocular skew deviation in hepatic coma. (7264698)
1981
48
Acute obstructive suppurative cholangitis. (5782750)
1969
49
Contributions to the study of intrarachidian localisation of distoma (paragonimiasis). (13497624)
1957
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