Aliases & Classifications for Omphalocele

About this section
Sources:
11Disease Ontology, 13DISEASES, 52Orphanet, 25GTR, 48Novoseek, 66UMLS, 28ICD10, 30ICD9CM, 37MeSH, 43NCIt, 29ICD10 via Orphanet, 67UMLS via Orphanet, 60SNOMED-CT, 62The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Omphalocele:

Name: Omphalocele 11 13 52 25 48
Congenital Omphalocele 66
 
Omphalocoele 11

Characteristics:

Orphanet epidemiological data:

52
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:

62


Classifications:



External Ids:

Disease Ontology11 DOID:0060327
ICD1028 Q79.2
ICD9CM30 756.72
MeSH37 D006554
NCIt43 C98997
Orphanet52 ORPHA660
ICD10 via Orphanet29 Q79.2
UMLS via Orphanet67 C0795690
UMLS66 C0795690, C1306503

Summaries for Omphalocele

About this section
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 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 FLNA (Filamin A), and among its related pathways are Cobalamin (Cbl, vitamin B12) transport and metabolism and Vitamin digestion and absorption. Affiliated tissues include liver, skin and heart, and related mouse phenotypes are respiratory system and muscle.

Wikipedia:69 An omphalocele (British English: omphalocoele) is a rare abdominal wall defect in which the intestines,... more...

Related Diseases for Omphalocele

About this section

Diseases related to Omphalocele via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 113)
idRelated DiseaseScoreTop Affiliating Genes
1neural tube defects29.2MNX1, MTHFD1, SLC19A1, TCN2
2omphalocele, exstrophy of the cloaca, imperforate anus, and spinal defects complex12.1
3shprintzen omphalocele syndrome12.1
4omphalocele-cleft palate syndrome, lethal12.0
5diaphragmatic agenesis radial aplasia omphalocele11.9
6familial omphalocele syndrome with facial dysmorphism11.9
7abdominal wall defect11.6
8oeis complex11.5
9gershoni-baruch syndrome11.3
10pagod syndrome10.9
11brachial amelia, forebrain defects and facial clefts10.9
12game friedman paradice syndrome10.9
13gastroschisis10.7
14beckwith-wiedemann syndrome10.6
15otopalatodigital syndrome, type ii10.4
16imperforate anus10.3
17serine deficiency10.2CD320, TCN2
18exostosis10.1MTHFD1, SLC19A1
19gastroschisis abdominal wall defects, included10.1
20familial nephrotic syndrome10.1BMP1, FREM1
21manitoba oculotrichoanal syndrome10.0
22exstrophy of bladder bladder exstrophy and epispadias complex, included10.0
23congenital diaphragmatic hernia10.0
24birth defects10.0
25mercury poisoning10.0
26anencephaly9.9
27hepatitis9.9
28esophagitis9.9
29down syndrome9.9
30ventricular septal defect9.9
31ectopia cordis9.9
32hajdu-cheney syndrome9.9FLNA, GLI3
333mc syndrome 29.9
34donnai-barrow syndrome9.9
353mc syndrome 19.9
36cryptorchidism9.9
37macroglossia9.9
38pulmonary hypertension9.9
39heart disease9.9
40congenital heart disease9.9
41prune belly syndrome9.8
42apert syndrome9.8
43craniorachischisis9.8
44holoprosencephaly9.8
45hypoplastic left heart syndrome9.8
46inguinal hernia9.8
47esophageal atresia9.8
48intestinal atresia9.8
49turner syndrome9.8
50polyhydramnios9.8

Graphical network of the top 20 diseases related to Omphalocele:



Diseases related to omphalocele

Symptoms for Omphalocele

About this section

Symptoms:

 52
  • omphalocele
  • premature birth

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

About this section

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

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1FolateNutraceuticalPhase 34143
2
Folic AcidNutraceuticalPhase 3414359-30-36037
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
3lysineNutraceutical81

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

About this section

Genetic tests related to Omphalocele:

id Genetic test Affiliating Genes
1 Omphalocele25

Anatomical Context for Omphalocele

About this section

MalaCards organs/tissues related to Omphalocele:

34
Liver, Skin, Heart, Small intestine, Lung, Spleen, Kidney

Animal Models for Omphalocele or affiliated genes

About this section

MGI Mouse Phenotypes related to Omphalocele:

39 (show all 13)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053888.6ALX4, BMPR1A, FLNA, FREM1, GLI3, MNX1
2MP:00053698.4ALX4, BMP1, BMPR1A, FREM1, MNX1, NUAK1
3MP:00053828.2ALX4, BMP1, BMPR1A, FLNA, FREM1, GLI3
4MP:00053918.0ALX4, BMPR1A, CD320, FLNA, FREM1, GLI3
5MP:00053907.7ALX4, BMP1, BMPR1A, FLNA, FREM1, GLI3
6MP:00053817.7ALX4, BMP1, FLNA, FREM1, GLI3, MNX1
7MP:00053717.4ALX4, BMP1, BMPR1A, FREM1, GLI3, MTHFD1
8MP:00053857.4BMP1, BMPR1A, CD320, FLNA, GLI3, MNX1
9MP:00036317.4ALX4, BMPR1A, FLNA, FREM1, GLI3, MNX1
10MP:00053807.2ALX4, BMP1, BMPR1A, GLI3, MTHFD1, NUAK1
11MP:00107686.1ALX4, BMP1, BMPR1A, FLNA, FREM1, GLI3
12MP:00053766.0BMP1, BMPR1A, CD320, FLNA, GLI3, MNX1
13MP:00053785.9ALX4, BMP1, BMPR1A, FLNA, FREM1, GLI3

Publications for Omphalocele

About this section

Articles related to Omphalocele:

(show top 50)    (show all 560)
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

About this section

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

About this section
Search GEO for disease gene expression data for Omphalocele.

GO Terms for genes affiliated with Omphalocele

About this section

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

(show all 16)
idNameGO IDScoreTop Affiliating Genes
1cobalamin metabolic processGO:000923510.2CD320, TCN2
2cobalamin transportGO:001588910.2CD320, TCN2
3limb morphogenesisGO:003510810.2ALX4, GLI3
4regulation of cellular senescenceGO:200077210.2BMPR1A, NUAK1
5embryonic morphogenesisGO:004859810.0BMPR1A, GLI3
6positive regulation of pathway-restricted SMAD protein phosphorylationGO:00108629.8BMP1, BMPR1A
7developmental growthGO:00485899.8BMPR1A, GLI3
8embryonic digit morphogenesisGO:00427339.6ALX4, BMPR1A, GLI3
9anterior/posterior pattern specificationGO:00099529.5ALX4, BMPR1A, GLI3
10regulation of apoptotic processGO:00429819.5ALX4, BMP1, GLI3
11dorsal/ventral pattern formationGO:00099539.5BMPR1A, GLI3
12skeletal system developmentGO:00015019.4ALX4, BMP1, CDKN1C
13pattern specification processGO:00073899.4ALX4, BMPR1A, GLI3
14palate developmentGO:00600219.3ALX4, BMPR1A, GLI3
15folic acid metabolic processGO:00466559.3MTHFD1, SLC19A1
16heart developmentGO:00075078.6BMPR1A, GLI3, MTHFD1

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

idNameGO IDScoreTop Affiliating Genes
1cobalamin bindingGO:00314199.8CD320, TCN2

Sources for Omphalocele

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet