MCID: OMP004
MIFTS: 50

Omphalocele malady

Categories: Fetal diseases, Rare diseases

Aliases & Classifications for Omphalocele

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Sources:
11Disease Ontology, 13DISEASES, 26GTR, 29ICD10, 30ICD10 via Orphanet, 31ICD9CM, 38MeSH, 44NCIt, 49Novoseek, 53Orphanet, 61SNOMED-CT, 63The Human Phenotype Ontology, 67UMLS, 68UMLS via Orphanet
See all MalaCards sources

Aliases & Descriptions for Omphalocele:

Name: Omphalocele 11 53 26 49 13
Congenital Omphalocele 67
 
Omphalocoele 11

Characteristics:

Orphanet epidemiological data:

53
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:

63

Classifications:



External Ids:

Disease Ontology11 DOID:0060327
ICD1029 Q79.2
ICD9CM31 756.72
MeSH38 D006554
NCIt44 C98997
Orphanet53 ORPHA660
ICD10 via Orphanet30 Q79.2
UMLS via Orphanet68 C0795690
UMLS67 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:70 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 for Omphalocele

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Human phenotypes related to Omphalocele:

 63 53
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 omphalocele63 53 hallmark (90%) Very frequent (99-80%) HP:0001539
2 premature birth63 53 hallmark (90%) Very frequent (99-80%) HP:0001622

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, 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 Omphalocele26

Anatomical Context for Omphalocele

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MalaCards organs/tissues related to Omphalocele:

35
Liver, Skin, Heart, Small intestine, Lung, Spleen, Kidney

Animal Models for Omphalocele or affiliated genes

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MGI Mouse Phenotypes related to Omphalocele:

40 (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

Publications for Omphalocele

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Articles related to Omphalocele:

(show top 50)    (show all 564)
idTitleAuthorsYear
1
Antenatal diagnosis of isolated omphalocele. (26523175)
2015
2
Are all pulmonary hypoplasias the same? A comparison of pulmonary outcomes in neonates with congenital diaphragmatic hernia, omphalocele and congenital lung malformation. (25598093)
2015
3
First-trimester diagnosis of recurrent omphalocele associated with fetal trisomy 18 but without parental mosaicism. (25951728)
2015
4
Prenatal examination and postmortem findings in fetuses with gastroschisis and omphalocele. (24604302)
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
Urological outcomes in the omphalocele exstrophy imperforate anus spinal defects (OEIS) complex: experience with 80 patients. (22640865)
2013
9
Fetal omphalocele in a common bottlenose dolphin (Tursiops truncatus). (23505707)
2013
10
Prenatal findings of omphalocele-exstrophy of the bladder-imperforate anus-spinal defects (OEIS) complex. (22925220)
2012
11
Omphalocele management using goal-oriented classification in African centre with limited resources. (20923791)
2011
12
Progression of a giant omphalocele in utero: ultrasound and fetal magnetic resonance imaging findings. (20956851)
2010
13
Neuro-orthopedic manifestations of the omphalocele exstrophy imperforate anus spinal defects complex. (20728185)
2010
14
Management of a giant omphalocele with an external skin closure system. (20638510)
2010
15
Nonoperative management of a giant omphalocele using a silver impregnated hydrofiber dressing: a case report. (20638542)
2010
16
Discordant omphalocele-exstrophy-imperforate anus-spinal defects (OEIS) complex and cardiac malformations in monochorionic twins. (19842883)
2009
17
Omphalocele minor associated with complete absence of the large bowel. (19517123)
2009
18
Ruptured omphalocele in thoracoomphalopagus conjoined twins. (20187515)
2009
19
Ruptured omphalocele with extracorporeal intestines mimicking gastroschisis in a fetus with Turner syndrome. (17694577)
2007
20
Prenatal discovery of an omphalocele associated with an inner umbilical cord Meckel's diverticulum. (17674250)
2007
21
Cardiac diverticulum and omphalocele: Cantrell's pentalogy or syndrome. (11924596)
2002
22
Treatment of high imperforate anus with large omphalocele in a baby boy. (12194138)
2002
23
In utero sonographic diagnosis of a communicating enteric duplication cyst in a giant omphalocele. (11494286)
2001
24
Omphalocele in a foal. (10777041)
2000
25
Umbilicoplasty in neonates with primary omphalocele closure. (10525918)
1999
26
Monosomy X and omphalocele. (9110374)
1997
27
Respiratory insufficiency at birth: a predictor of mortality for infants with omphalocele. (8863240)
1996
28
Omphalocele and gastroschisis in Europe: a survey of 3 million births 1980-1990. EUROCAT Working Group. (8533813)
1995
29
Anomalous inferior vena cava in association with omphalocele: a case report. (7567232)
1995
30
Familial omphalocele: considerations in genetic counseling. (1481822)
1992
31
Surgical proposition for the treatment of omphalocele. (1779340)
1991
32
Fetal omphalocele: prenatal US detection of concurrent anomalies and other predictors of outcome. (2244006)
1990
33
Sonographic diagnosis of omphalocele in the first trimester of fetal gestation. (3279232)
1988
34
Neural tube defects and omphalocele in trisomy 18. (3191615)
1988
35
Abdominal wall defects: omphalocele and gastroschisis (continuing education credit). (2961975)
1987
36
Omphalocele, cryptorchidism, and brain malformations. (2889822)
1987
37
Simultaneous superior and inferior vena cava pressure recordings in giant omphalocele repair--a possible guideline for prevention of postoperative circulatory complications. (4090743)
1985
38
Antenatal diagnosis of omphalocele and planned primary closure at birth. Case reports. (4016037)
1985
39
Prenatal diagnosis of omphalocele and gastroschisis by ultrasonography. (2418434)
1985
40
Omphalocele, hernia of the umbilical cord and gastroschisis. (6232916)
1983
41
Omphalocele and multiple severe congenital anomalies associated with osteodysplasty (Melnick-Needles syndrome). (7158644)
1982
42
Congenital abdominal wall defects: gastroschisis and omphalocele. (6211335)
1982
43
Immediate permanent fascial prosthesis for gastroschisis and massive omphalocele. (6454268)
1981
44
Modern management of omphalocele and gastroschisis. (6453113)
1981
45
Omphalocele and partial trisomy 1q syndrome. (535894)
1979
46
Omphalocele and gastroschisis. (160587)
1979
47
Gastroschisis, not omphalocele. (148110)
1978
48
Perinatal aspects of omphalocele and gastroschisis. (930890)
1977
49
Omphalocele. (136050)
1976
50
Congenital omphalocele in association with cytomegalic inclusion body disease in a newborn child. (4286038)
1965

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 transportGO:001588910.2CD320, TCN2
2limb morphogenesisGO:003510810.2ALX4, GLI3
3regulation of cellular senescenceGO:200077210.2BMPR1A, NUAK1
4cobalamin metabolic processGO:000923510.2CD320, TCN2
5embryonic morphogenesisGO:004859810.0BMPR1A, GLI3
6dorsal/ventral pattern formationGO:00099539.8BMPR1A, GLI3
7embryonic digit morphogenesisGO:00427339.6ALX4, BMPR1A, GLI3
8developmental growthGO:00485899.5BMPR1A, GLI3
9palate developmentGO:00600219.4ALX4, BMPR1A, GLI3
10lung developmentGO:00303249.2BMPR1A, GLI3, ZIC3
11anterior/posterior pattern specificationGO:00099529.0ALX4, BMPR1A, GLI3, ZIC3
12skeletal system developmentGO:00015019.0ALX4, BMP1, CDKN1C
13pattern specification processGO:00073899.0ALX4, BMPR1A, GLI3, ZIC3
14regulation of apoptotic processGO:00429818.9ALX4, BMP1, GLI3
15positive regulation of transcription, DNA-templatedGO:00458938.4BMPR1A, 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:00435659.0ALX4, GLI3, MNX1, ZIC3
3metal ion bindingGO:00468727.4AFP, BMPR1A, FREM1, GLI3, NUAK1, TCN2

Sources for Omphalocele

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet