MCID: OMP004
MIFTS: 46

Omphalocele malady

Fetal diseases, Rare diseases categories

Aliases & Classifications for Omphalocele

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Sources:
10Disease Ontology, 47Novoseek, 12DISEASES, 51Orphanet, 65UMLS, 36MeSH, 29ICD9CM, 66UMLS via Orphanet, 28ICD10 via Orphanet
See all sources

Aliases & Descriptions for Omphalocele:

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


Classifications:



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


External Ids:

Disease Ontology10 DOID:0060327
MeSH36 D006554
ICD9CM29 756.89
Orphanet51 660
UMLS via Orphanet66 C0795690
ICD10 via Orphanet28 Q79.2

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 inguinal hernia, and has symptoms including omphalocele, premature birth and x-linked inheritance. An important gene associated with Omphalocele is CDKN1C (Cyclin-Dependent Kinase Inhibitor 1C (P57, Kip2)), and among its related pathways are Cobalamin (Cbl, vitamin B12) transport and metabolism and Endochondral Ossification. Affiliated tissues include liver, cortex and skin, and related mouse phenotypes are normal and limbs/digits/tail.

Wikipedia:68 An omphalocele (British English: omphalocoele) is a type of abdominal wall defect in which the... 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 160)
idRelated DiseaseScoreTop Affiliating Genes
1neural tube defects30.2AFP, MTHFD1, TCN2
2inguinal hernia27.4AFP, ALX4, BMP1, BMPR1A, CD320, CDKN1C
3gastroschisis10.9
4omphalocele exstrophy imperforate anus10.6
5imperforate anus10.6
6shprintzen omphalocele syndrome10.5
7abdominal wall defect10.4
8beckwith-wiedemann syndrome10.4
9omphalocele cleft palate syndrome lethal10.4
10congenital diaphragmatic hernia10.3
11otopalatodigital syndrome, type ii10.2
12mercury poisoning10.2
13donnai-barrow syndrome10.2
14c syndrome10.2
15focal dermal hypoplasia10.2
16anencephaly10.2
17craniorachischisis10.2
18hepatitis10.2
19holoprosencephaly10.2
20edwards syndrome10.2
21down syndrome10.2
22esophagitis10.2
23ventricular septal defect10.2
24cloacal exstrophy10.2
25diaphragmatic agenesis radial aplasia omphalocele10.2
26manitoba oculotrichoanal syndrome10.1
27apert syndrome10.1
28cryptorchidism10.1
29melnick-needles syndrome10.1
30congenital heart disease10.1
31colonic atresia10.1
32gershoni-baruch syndrome10.1
33macroglossia10.1
34pagod syndrome10.1
35pentalogy of cantrell10.1
36familial omphalocele syndrome with facial dysmorphism10.1
37otopalatodigital syndrome10.1
38vitreous disease10.1CD320, TCN2
39parietal foramina 110.1ALX4, MNX1
40scar contracture10.1AFP, MNX1
41prune belly syndrome10.1
42ablepharon-macrostomia syndrome10.1
433mc syndrome 110.1
44charge syndrome10.1
45short-rib thoracic dysplasia 3 with or without polydactyly10.1
46caudal duplication anomaly10.1
47miller-dieker lissencephaly syndrome10.1
48thoracoabdominal syndrome10.1
49pulmonary hypertension10.1
50hypoplastic left heart syndrome10.1

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 x-linked inheritance HP:0001417
4 omphalocele HP:0001539

Drugs & Therapeutics for Omphalocele

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

(show all 6)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Folic Acidapproved, nutraceuticalPhase 3285159-30-36037
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
2Vitamin B ComplexPhase 32775
3Vitamin B9NutraceuticalPhase 32851
4Folinic AcidNutraceuticalPhase 32498
5FolateNutraceuticalPhase 32851
6lysineNutraceutical70

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, Cortex, Skin, Heart, Lung, Small intestine, Kidney

Animal Models for Omphalocele or affiliated genes

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MGI Mouse Phenotypes related to Omphalocele:

38 (show all 16)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00028738.8ALX4, BMPR1A, CDKN1C, FLNA, FREM1, MNX1
2MP:00053718.7ALX4, BMPR1A, CDKN1C, FREM1, GLI3, MTHFD1
3MP:00053698.6ALX4, BMPR1A, CDKN1C, FREM1, MNX1, NUAK1
4MP:00053888.1ALX4, BMPR1A, CDKN1C, FLNA, FREM1, GLI3
5MP:00053818.0ALX4, BMP1, CDKN1C, FLNA, FREM1, GLI3
6MP:00053918.0ALX4, BMPR1A, CD320, CDKN1C, FLNA, FREM1
7MP:00053798.0AFP, BMPR1A, CDKN1C, FREM1, GLI3, MNX1
8MP:00053827.8ALX4, BMP1, BMPR1A, CDKN1C, FLNA, FREM1
9MP:00053807.7ALX4, BMP1, BMPR1A, CDKN1C, GLI3, MTHFD1
10MP:00053907.6ALX4, BMP1, BMPR1A, CDKN1C, FLNA, FREM1
11MP:00053897.5AFP, BMPR1A, CD320, CDKN1C, FLNA, FREM1
12MP:00036317.2ALX4, BMPR1A, CDKN1C, FLNA, FREM1, GLI3
13MP:00053857.1BMP1, BMPR1A, CD320, CDKN1C, FLNA, GLI3
14MP:00053766.6AFP, BMPR1A, CD320, CDKN1C, FLNA, GLI3
15MP:00053786.5ALX4, BMP1, BMPR1A, CDKN1C, FLNA, FREM1
16MP:00107686.0AFP, ALX4, BMP1, BMPR1A, CDKN1C, FLNA

Publications for Omphalocele

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Articles related to Omphalocele:

(show top 50)    (show all 540)
idTitleAuthorsYear
1
Septo-optic Dysplasia Complex with Omphalocele, Pre-maxillary Agenesis and Encephalocele. (25848158)
2015
2
Antenatal diagnosis of isolated omphalocele. (26523175)
2015
3
Prenatal examination and postmortem findings in fetuses with gastroschisis and omphalocele. (24604302)
2014
4
Anomalies associated with gastroschisis and omphalocele: analysis of 2825 cases from the Texas Birth Defects Registry. (24726103)
2014
5
Gastroschisis, omphalocele or something else? (23531629)
2014
6
Past and present in omphalocele treatment in Romania. (25149614)
2014
7
Prenatal imaging of a fetus with the rare combination of a right congenital diaphragmatic hernia and a giant omphalocele. (25059273)
2014
8
Esophageal atresia, small omphalocele and ileal prolapse through a patent omphalomesenteric duct: a methamizole embryopathy? (23845657)
2013
9
Functional, motor developmental, and long-term outcome after the component separation technique in children with giant omphalocele: a case control study. (23480906)
2013
10
Urological outcomes in the omphalocele exstrophy imperforate anus spinal defects (OEIS) complex: experience with 80 patients. (22640865)
2013
11
Disturbance of SHH signalling pathway during early embryogenesis in the cadmium-induced omphalocele chick model. (23124188)
2013
12
Major omphalocele with liver protrusion. Liver dysmorphism. A case study. (23771092)
2013
13
Presenilin genes are downregulated during somitogenesis in the cadmium-induced omphalocele chick model. (21986620)
2012
14
Prenatal findings of omphalocele-exstrophy of the bladder-imperforate anus-spinal defects (OEIS) complex. (22925220)
2012
15
Omphalocele management using goal-oriented classification in African centre with limited resources. (20923791)
2011
16
Progression of a giant omphalocele in utero: ultrasound and fetal magnetic resonance imaging findings. (20956851)
2010
17
Esophageal obstruction and intracardiac "mass" in association with omphalocele closure. (19231555)
2009
18
Mechanical compression with secondary ischemia as a possible cause of atresias associated with omphalocele. (20006004)
2009
19
Omphalocele minor associated with complete absence of the large bowel. (19517123)
2009
20
Ruptured omphalocele in thoracoomphalopagus conjoined twins. (20187515)
2009
21
Delayed three-stage closure of giant omphalocele using pericard patch. (17628735)
2008
22
Ruptured omphalocele with extracorporeal intestines mimicking gastroschisis in a fetus with Turner syndrome. (17694577)
2007
23
The use of human acellular dermis in the operative management of giant omphalocele. (16410136)
2006
24
Use of sterile adhesive film and polypropylene mesh in the construction of a temporary silo in the treatment of omphalocele. (16034555)
2005
25
A new case of omphalocele with absence of thumb. (15884640)
2005
26
Omphalocele: clinical review and surgical experience using dura patch grafts. (12152643)
2002
27
Management of neglected giant omphalocele with Gore-tex in a child aged 8 years. (12244283)
2002
28
Association between multiple intestinal atresia and omphalocele: a case report. (11486351)
2001
29
Omphalocele, colonic atresia, and Hirschsprung's disease: an unusual cluster of malformations in a single patient. (11315294)
2001
30
Perforation of small intestine inside an internal omphalocele after blunt trauma: case report and review of the literature. (11242304)
2001
31
Monosomy X and omphalocele. (9110374)
1997
32
Respiratory insufficiency at birth: a predictor of mortality for infants with omphalocele. (8863240)
1996
33
Omphalocele and gastroschisis in Europe: a survey of 3 million births 1980-1990. EUROCAT Working Group. (8533813)
1995
34
Down syndrome and omphalocele: an underrecognized association. (8115219)
1994
35
A fetus with sirenomelia, omphalocele, and meningomyelocele, but normal kidneys. (7801305)
1994
36
Genetic-epidemiologic study of omphalocele and gastroschisis: evidence for heterogeneity. (1481831)
1992
37
Omphalocele at 15 weeks. (2668810)
1989
38
Sonographic diagnosis of omphalocele in the first trimester of fetal gestation. (3279232)
1988
39
Abdominal wall defects: omphalocele and gastroschisis (continuing education credit). (2961975)
1987
40
Simultaneous superior and inferior vena cava pressure recordings in giant omphalocele repair--a possible guideline for prevention of postoperative circulatory complications. (4090743)
1985
41
Omphalocele, hernia of the umbilical cord and gastroschisis. (6232916)
1983
42
Congenital abdominal wall defects: gastroschisis and omphalocele. (6211335)
1982
43
Treatment of gastroschisis and omphalocele. (6212638)
1982
44
Etiological study of omphalocele. (7327560)
1981
45
Immediate permanent fascial prosthesis for gastroschisis and massive omphalocele. (6454268)
1981
46
Antenatal diagnosis of omphalocele by ultrasound: case report with a brief review of the literature. (7252945)
1981
47
Omphalocele and partial trisomy 1q syndrome. (535894)
1979
48
Perinatal aspects of omphalocele and gastroschisis. (930890)
1977
49
Omphalocele. (136050)
1976
50
Polyhydramnios and omphalocele. (132570)
1976

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.

Pathways for genes affiliated with Omphalocele

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Pathways related to Omphalocele according to GeneCards Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.7CD320, TCN2
29.4BMPR1A, 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
1regulation of cellular senescenceGO:200077210.2BMPR1A, NUAK1
2embryonic morphogenesisGO:004859810.1BMPR1A, GLI3
3cobalamin metabolic processGO:000923510.1CD320, TCN2
4dorsal/ventral pattern formationGO:000995310.1BMPR1A, GLI3
5developmental growthGO:004858910.0BMPR1A, GLI3
6pancreas developmentGO:00310169.8AFP, MNX1
7limb morphogenesisGO:00351089.8ALX4, GLI3
8pattern specification processGO:00073899.7ALX4, BMPR1A, GLI3
9embryonic digit morphogenesisGO:00427339.7ALX4, BMPR1A, GLI3
10anterior/posterior pattern specificationGO:00099529.6ALX4, BMPR1A, GLI3
11vitamin metabolic processGO:00067669.3CD320, MTHFD1, TCN2
12water-soluble vitamin metabolic processGO:00067679.3CD320, MTHFD1, TCN2
13palate developmentGO:00600219.2ALX4, BMPR1A, GLI3
14heart developmentGO:00075079.1BMPR1A, GLI3, MTHFD1
15skeletal system developmentGO:00015018.8ALX4, BMP1, CDKN1C

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

idNameGO IDScoreTop Affiliating Genes
1SMAD bindingGO:00463329.8BMPR1A, FLNA
2cobalamin bindingGO:00314199.6CD320, 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