MCID: OMP004
MIFTS: 43

Omphalocele malady

Fetal diseases, Rare diseases categories

Aliases & Classifications for Omphalocele

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Sources:
47Orphanet, 60UMLS, 26ICD10 via Orphanet, 61UMLS via Orphanet
See all sources

Omphalocele, Aliases & Descriptions:

Name: Omphalocele 47
 
Congenital Omphalocele 60


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal diseases, Rare diseases


Characteristics (Orphanet epidemiological data):

47
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:

Orphanet47 660
ICD10 via Orphanet26 Q79.2
UMLS via Orphanet61 C0795690

Summaries for Omphalocele

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Wikipedia:63 An omphalocele (British English: omphalocoele) is a type of abdominal wall defect in which the... more...

MalaCards based summary: Omphalocele, also known as congenital omphalocele, is related to gastroschisis and beckwith-wiedemann syndrome, and has symptoms including omphalocele, premature birth and x-linked inheritance. An important gene associated with Omphalocele is NUAK1 (NUAK family, SNF1-like kinase, 1), and among its related pathways is Endochondral Ossification. The compounds polyethylene glycol and azathioprine have been mentioned in the context of this disorder. Affiliated tissues include liver, skin and heart, and related mouse phenotypes are craniofacial and respiratory system.

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 155)
idRelated DiseaseScoreTop Affiliating Genes
1gastroschisis31.3AFP, ACHE
2beckwith-wiedemann syndrome30.7CDKN1C, IGF2
3neural tube defects30.2AFP, ACHE
4anencephaly30.1AFP, ACHE
5hypoglycemia30.1CDKN1C, IGF2
6teratoma29.9MNX1, AFP
7down syndrome29.9AFP, ACHE
8imperforate anus10.6
9omphalocele exstrophy imperforate anus10.6
10shprintzen omphalocele syndrome10.5
11omphalocele cleft palate syndrome lethal10.4
12abdominal wall defect10.3
13congenital diaphragmatic hernia10.3
14mercury poisoning10.2
15donnai-barrow syndrome10.2
16c syndrome10.2
17focal dermal hypoplasia10.2
18otopalatodigital syndrome, type ii10.2
19melnick-needles syndrome10.2
20craniorachischisis10.2
21hepatitis10.2
22holoprosencephaly10.2
23edwards syndrome10.2
24esophagitis10.2
25ventricular septal defect10.2
26cloacal exstrophy10.2
27diaphragmatic agenesis radial aplasia omphalocele10.2
28kennerknecht vogel syndrome10.2
29pentalogy of cantrell10.2
30hemi 3 syndrome10.2CDKN1C, IGF2
31silver-russell syndrome10.1CDKN1C, IGF2
32adrenal adenoma10.1CDKN1C, IGF2
33gestational trophoblastic neoplasm10.1CDKN1C, IGF2
34apert syndrome10.1
35fibrochondrogenesis10.1
36cryptorchidism10.1
37congenital heart disease10.1
38colonic atresia10.1
39exstrophy of the bladder10.1
40game friedman paradice syndrome10.1
41gershoni-baruch syndrome10.1
42macroglossia10.1
43miller-dieker syndrome10.1
44familial omphalocele syndrome with facial dysmorphism10.1
45otopalatodigital syndrome10.1
46adrenocortical carcinoma10.1CDKN1C, IGF2
47adrenal cortical adenoma10.1IGF2, CDKN1C
48seminoma10.0IGF2, AFP
49split-hand/foot malformation with long bone deficiency 110.0
50visceral myopathy10.0

Graphical network of the top 20 diseases related to Omphalocele:



Diseases related to omphalocele

Symptoms for Omphalocele

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Symptoms:

 47
  • 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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Drug clinical trials:

Search ClinicalTrials for Omphalocele

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:

31
Liver, Skin, Heart, Lung, Spleen, Brain, Small intestine, Kidney, Cortex, Colon, Thyroid, Placenta, Adrenal cortex

Animal Models for Omphalocele or affiliated genes

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Publications for Omphalocele

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Articles related to Omphalocele:

(show top 50)    (show all 528)
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
A new case of omphalocele with absence of thumb. (15884640)
2005
25
Omphalocele: clinical review and surgical experience using dura patch grafts. (12152643)
2002
26
Management of neglected giant omphalocele with Gore-tex in a child aged 8 years. (12244283)
2002
27
Association between multiple intestinal atresia and omphalocele: a case report. (11486351)
2001
28
Omphalocele, colonic atresia, and Hirschsprung's disease: an unusual cluster of malformations in a single patient. (11315294)
2001
29
Perforation of small intestine inside an internal omphalocele after blunt trauma: case report and review of the literature. (11242304)
2001
30
Monosomy X and omphalocele. (9110374)
1997
31
Respiratory insufficiency at birth: a predictor of mortality for infants with omphalocele. (8863240)
1996
32
Omphalocele and gastroschisis in Europe: a survey of 3 million births 1980-1990. EUROCAT Working Group. (8533813)
1995
33
Down syndrome and omphalocele: an underrecognized association. (8115219)
1994
34
A fetus with sirenomelia, omphalocele, and meningomyelocele, but normal kidneys. (7801305)
1994
35
Genetic-epidemiologic study of omphalocele and gastroschisis: evidence for heterogeneity. (1481831)
1992
36
Omphalocele at 15 weeks. (2668810)
1989
37
Sonographic diagnosis of omphalocele in the first trimester of fetal gestation. (3279232)
1988
38
Abdominal wall defects: omphalocele and gastroschisis (continuing education credit). (2961975)
1987
39
Simultaneous superior and inferior vena cava pressure recordings in giant omphalocele repair--a possible guideline for prevention of postoperative circulatory complications. (4090743)
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
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
19.4CDKN1C, IGF2

Compounds for genes affiliated with Omphalocele

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Sources:
43Novoseek, 2BitterDB, 49PharmGKB, 12DrugBank, 28IUPHAR, 24HMDB
See all sources

Compounds related to Omphalocele according to GeneCards Suite gene sharing:

(show all 15)
idCompoundScoreTop Affiliating Genes
1polyethylene glycol439.6AFP, IGF2
2azathioprine43 2 49 1212.6IGF2, AFP
3estrone43 28 24 1212.6AFP, IGF2
45-aza-2deoxycytidine439.5CDKN1C, IGF2
5tgf beta1439.5AFP, IGF2
6thyroxine43 2410.5IGF2, AFP
7folate439.4AFP, IGF2
8valine439.3IGF2, AFP
9acth439.3CDKN1C, IGF2
105fluorouracil439.3AFP, IGF2
11alanine439.1MNX1, AFP, IGF2
12nacl439.0AFP, IGF2
13retinoic acid43 2410.0MNX1, AFP, IGF2
14irinotecan43 49 1210.8ACHE, AFP, IGF2
15glutamate438.7IGF2, AFP, ACHE

GO Terms for genes affiliated with Omphalocele

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Cellular components related to Omphalocele according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1extracellular spaceGO:00056158.5ACHE, AFP, IGF2

Products for genes affiliated with Omphalocele

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Omphalocele

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet