MCID: OMP004
MIFTS: 52

Omphalocele malady

Fetal diseases, Rare diseases categories
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Summaries for Omphalocele

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Wikipedia:65 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/exomphalos, autosomal dominant inheritance and stillbirth/neonatal death. 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.

Descriptions from OMIM:46 164750,310980

Aliases & Classifications for Omphalocele

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Sources:
48Orphanet, 46OMIM, 62UMLS, 26ICD10 via Orphanet, 63UMLS via Orphanet
See all sources

Omphalocele, Aliases & Descriptions:

Name: Omphalocele 48 46
 
Congenital Omphalocele 62


Classifications:

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


Characteristics (Orphanet epidemiological data):

48
omphalocele:
Inheritance: Sporadic; Prevalence: 1-5/10000; Age of onset: Neonatal/infancy; Age of death: Any age


External Ids:

ICD10 via Orphanet26 Q79.2
UMLS via Orphanet63 C0795690

Related Diseases for Omphalocele

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Diseases in the Omphalocele family:

Omphalocele Due to Duplication of 1p31.3

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

(show top 50)    (show all 147)
idRelated DiseaseScoreTop Affiliating Genes
1gastroschisis31.3ACHE, AFP
2beckwith-wiedemann syndrome30.6IGF2, CDKN1C
3neural tube defects30.2AFP, ACHE
4anencephaly30.1ACHE, AFP
5hypoglycemia30.1CDKN1C, IGF2
6teratoma30.0MNX1, AFP
7down syndrome30.0AFP, ACHE
8imperforate anus10.6
9omphalocele exstrophy imperforate anus10.5
10shprintzen omphalocele syndrome10.5
11abdominal wall defect10.4
12omphalocele cleft palate syndrome lethal10.3
13mercury poisoning10.2
14hepatitis10.2
15congenital diaphragmatic hernia10.2
16esophagitis10.2
17ventricular septal defect10.2
18cloacal exstrophy10.2
19hemihypertrophy10.2IGF2, CDKN1C
20adrenal adenoma10.1IGF2, CDKN1C
21silver-russell syndrome10.1IGF2, CDKN1C
22gestational trophoblastic neoplasm10.1CDKN1C, IGF2
23craniorachischisis10.1
24edwards syndrome10.1
25cryptorchidism10.1
26congenital heart disease10.1
27diaphragmatic agenesis radial aplasia omphalocele10.1
28gershoni-baruch syndrome10.1
29macroglossia10.1
30pentalogy of cantrell10.1
31adrenocortical carcinoma10.1IGF2, CDKN1C
32adrenal cortical adenoma10.1IGF2, CDKN1C
33seminoma10.0IGF2, AFP
34holoprosencephaly10.0
35hypoplastic left heart syndrome10.0
36focal dermal hypoplasia10.0
37polyhydramnios10.0
38esophageal atresia10.0
39intestinal atresia10.0
40duodenitis10.0
41turner syndrome10.0
42donnai-barrow syndrome10.0
43colonic atresia10.0
44exstrophy of the bladder10.0
45melnick-needles syndrome10.0
46miller-dieker syndrome10.0
47oto-palato-digital syndrome type 210.0
48pagod syndrome10.0
49prune belly syndrome10.0
50sirenomelia10.0

Graphical network of the top 20 diseases related to Omphalocele:



Diseases related to omphalocele

Symptoms for Omphalocele

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Symptoms by clinical synopsis from OMIM:

164750

Clinical features from OMIM:

164750,310980

Symptoms:

48
  • omphalocele/exomphalos
  • autosomal dominant inheritance
  • stillbirth/neonatal death
  • prematurity

HPO human phenotypes related to Omphalocele:

(show all 7)
id Description Frequency HPO Source Accession
1 omphalocele hallmark (90%) HP:0001539
2 premature birth hallmark (90%) HP:0001622
3 autosomal dominant inheritance HP:0000006
4 inguinal hernia HP:0000023
5 omphalocele HP:0001539
6 x-linked inheritance HP:0001417
7 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:

32
Liver, Skin, Heart, Spleen, Brain, Small intestine, Kidney, Lung, 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 516)
idTitleAuthorsYear
1
Anomalies associated with gastroschisis and omphalocele: analysis of 2825 cases from the Texas Birth Defects Registry. (24726103)
2014
2
Gastroschisis, omphalocele or something else? (23531629)
2014
3
Past and present in omphalocele treatment in Romania. (25149614)
2014
4
Prenatal imaging of a fetus with the rare combination of a right congenital diaphragmatic hernia and a giant omphalocele. (25059273)
2014
5
Esophageal atresia, small omphalocele and ileal prolapse through a patent omphalomesenteric duct: a methamizole embryopathy? (23845657)
2013
6
Functional, motor developmental, and long-term outcome after the component separation technique in children with giant omphalocele: a case control study. (23480906)
2013
7
Urological outcomes in the omphalocele exstrophy imperforate anus spinal defects (OEIS) complex: experience with 80 patients. (22640865)
2013
8
Disturbance of SHH signalling pathway during early embryogenesis in the cadmium-induced omphalocele chick model. (23124188)
2013
9
Major omphalocele with liver protrusion. Liver dysmorphism. A case study. (23771092)
2013
10
Presenilin genes are downregulated during somitogenesis in the cadmium-induced omphalocele chick model. (21986620)
2012
11
Prenatal findings of omphalocele-exstrophy of the bladder-imperforate anus-spinal defects (OEIS) complex. (22925220)
2012
12
Omphalocele management using goal-oriented classification in African centre with limited resources. (20923791)
2011
13
Progression of a giant omphalocele in utero: ultrasound and fetal magnetic resonance imaging findings. (20956851)
2010
14
Discordant omphalocele-exstrophy-imperforate anus-spinal defects (OEIS) complex and cardiac malformations in monochorionic twins. (19842883)
2009
15
Esophageal obstruction and intracardiac "mass" in association with omphalocele closure. (19231555)
2009
16
Mechanical compression with secondary ischemia as a possible cause of atresias associated with omphalocele. (20006004)
2009
17
Omphalocele minor associated with complete absence of the large bowel. (19517123)
2009
18
Ruptured omphalocele in thoracoomphalopagus conjoined twins. (20187515)
2009
19
Delayed three-stage closure of giant omphalocele using pericard patch. (17628735)
2008
20
Ruptured omphalocele with extracorporeal intestines mimicking gastroschisis in a fetus with Turner syndrome. (17694577)
2007
21
The use of human acellular dermis in the operative management of giant omphalocele. (16410136)
2006
22
Use of sterile adhesive film and polypropylene mesh in the construction of a temporary silo in the treatment of omphalocele. (16034555)
2005
23
Omphalocele: clinical review and surgical experience using dura patch grafts. (12152643)
2002
24
Management of neglected giant omphalocele with Gore-tex in a child aged 8 years. (12244283)
2002
25
Cardiac diverticulum and omphalocele: Cantrell's pentalogy or syndrome. (11924596)
2002
26
Association between multiple intestinal atresia and omphalocele: a case report. (11486351)
2001
27
Omphalocele, colonic atresia, and Hirschsprung's disease: an unusual cluster of malformations in a single patient. (11315294)
2001
28
Perforation of small intestine inside an internal omphalocele after blunt trauma: case report and review of the literature. (11242304)
2001
29
Monosomy X and omphalocele. (9110374)
1997
30
Respiratory insufficiency at birth: a predictor of mortality for infants with omphalocele. (8863240)
1996
31
Omphalocele and gastroschisis in Europe: a survey of 3 million births 1980-1990. EUROCAT Working Group. (8533813)
1995
32
Down syndrome and omphalocele: an underrecognized association. (8115219)
1994
33
A fetus with sirenomelia, omphalocele, and meningomyelocele, but normal kidneys. (7801305)
1994
34
Genetic-epidemiologic study of omphalocele and gastroschisis: evidence for heterogeneity. (1481831)
1992
35
Omphalocele at 15 weeks. (2668810)
1989
36
Sonographic diagnosis of omphalocele in the first trimester of fetal gestation. (3279232)
1988
37
Abdominal wall defects: omphalocele and gastroschisis (continuing education credit). (2961975)
1987
38
Simultaneous superior and inferior vena cava pressure recordings in giant omphalocele repair--a possible guideline for prevention of postoperative circulatory complications. (4090743)
1985
39
Omphalocele, hernia of the umbilical cord and gastroschisis. (6232916)
1983
40
Omphalocele and multiple severe congenital anomalies associated with osteodysplasty (Melnick-Needles syndrome). (7158644)
1982
41
Congenital abdominal wall defects: gastroschisis and omphalocele. (6211335)
1982
42
Treatment of gastroschisis and omphalocele. (6212638)
1982
43
Etiological study of omphalocele. (7327560)
1981
44
Immediate permanent fascial prosthesis for gastroschisis and massive omphalocele. (6454268)
1981
45
Antenatal diagnosis of omphalocele by ultrasound: case report with a brief review of the literature. (7252945)
1981
46
Antenatal detection of omphalocele by ultrasound. (6110587)
1980
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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Expression patterns in normal tissues for genes affiliated with Omphalocele

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/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.4CDKN1C, IGF2

Compounds for genes affiliated with Omphalocele

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Sources:
44Novoseek, 2BitterDB, 50PharmGKB, 11DrugBank, 28IUPHAR, 24HMDB
See all sources

Compounds related to Omphalocele according to GeneCards/GeneDecks:

(show all 15)
idCompoundScoreTop Affiliating Genes
1polyethylene glycol449.6IGF2, AFP
2azathioprine44 2 50 1112.6IGF2, AFP
3estrone44 28 24 1112.6AFP, IGF2
4tgf beta1449.5IGF2, AFP
5thyroxine44 2410.5IGF2, AFP
65-aza-2deoxycytidine449.5CDKN1C, IGF2
7folate449.4IGF2, AFP
8valine449.3IGF2, AFP
9acth449.3IGF2, CDKN1C
105fluorouracil449.3IGF2, AFP
11alanine449.1IGF2, AFP, MNX1
12nacl449.0AFP, IGF2
13retinoic acid44 2410.0MNX1, IGF2, AFP
14irinotecan44 50 1110.8IGF2, AFP, ACHE
15glutamate448.7AFP, IGF2, ACHE

GO Terms for genes affiliated with Omphalocele

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Cellular components related to Omphalocele according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1extracellular spaceGO:0056158.5ACHE, AFP, IGF2

Products for genes affiliated with Omphalocele

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  • Antibodies
  • Proteins
  • Lysates

Sources for Omphalocele

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet