MCID: OMP004
MIFTS: 52

Omphalocele malady

Fetal diseases, Rare diseases categories
Download this MalaCard

Summaries for Omphalocele

About this section
Sources:
65Wikipedia, 47OMIM, 33MalaCards
See all sources

Fully expand this MalaCard
Wikipedia:65 An omphalocele (British English: omphalocoele) is a type of abdominal wall defect in which the... more...

MalaCards: Omphalocele, also known as congenital omphalocele, is related to gastroschisis and beckwith-wiedemann syndrome, and has symptoms including omphalocele/exomphalos, prematurity 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.

Description from OMIM:47 164750,310980

Aliases & Classifications for Omphalocele

About this section
Sources:
49Orphanet, 47OMIM, 62UMLS, 63UMLS via Orphanet, 26ICD10 via Orphanet, 59SNOMED-CT via Orphanet
See all sources

Classifications:

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


Characteristics (Orphanet epidemiological data):

49
omphalocele:
Inheritance: Sporadic; Prevalence: 1-5/10000; Age of onset: Neonatal/infancy; Age of death: Any age


Aliases & Descriptions:

omphalocele 49 47
congenital omphalocele 62


External Ids:

UMLS via Orphanet63 C0795690
ICD10 via Orphanet26 Q79.2
SNOMED-CT via Orphanet59 18735004

Related Diseases for Omphalocele

About this section
Sources:
17GeneCards, 18GeneDecks
See all sources

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 146)
idRelated DiseaseScoreTop Affiliating Genes
1gastroschisis31.3AFP, ACHE
2beckwith-wiedemann syndrome30.5CDKN1C, IGF2
3neural tube defects30.3AFP, ACHE
4down syndrome30.2AFP, ACHE
5anencephaly30.1AFP, ACHE
6hypoglycemia30.0CDKN1C, IGF2
7teratoma29.8MNX1, AFP
8imperforate anus10.5
9omphalocele exstrophy imperforate anus10.5
10shprintzen omphalocele syndrome10.5
11omphalocele cleft palate syndrome lethal10.3
12abdominal wall defect10.3
13cloacal exstrophy10.2
14mercury poisoning10.2
15esophagitis10.2
16hepatitis10.2
17ventricular septal defect10.2
18edwards syndrome10.1
19cryptorchidism10.1
20congenital diaphragmatic hernia10.1
21congenital heart disease10.1
22craniorachischisis10.1
23diaphragmatic agenesis radial aplasia omphalocele10.1
24macroglossia10.1
25pentalogy of cantrell10.1
26hemihypertrophy10.0CDKN1C, IGF2
27silver-russell syndrome10.0CDKN1C, IGF2
28gestational trophoblastic neoplasm10.0CDKN1C, IGF2
29adrenocortical carcinoma10.0CDKN1C, IGF2
30adrenal adenoma10.0IGF2, CDKN1C
31focal dermal hypoplasia10.0
32hypoplastic left heart syndrome10.0
33polyhydramnios10.0
34intestinal atresia10.0
35esophageal atresia10.0
36duodenitis10.0
37holoprosencephaly10.0
38turner syndrome10.0
39donnai-barrow syndrome10.0
40colonic atresia10.0
41exstrophy of the bladder10.0
42gershoni-baruch syndrome10.0
43melnick-needles syndrome10.0
44pagod syndrome10.0
45prune belly syndrome10.0
46sirenomelia10.0
47omphalocele due to duplication of 1p31.310.0
48exstrophy-epispadias complex10.0
49familial omphalocele syndrome with facial dysmorphism10.0
50seminoma10.0IGF2, AFP

Graphical network of the top 20 diseases related to Omphalocele:



Diseases related to omphalocele

Symptoms for Omphalocele

About this section
Sources:
47OMIM, 49Orphanet
See all sources

Symptoms by clinical synopsis from OMIM:

164750

Clinical features from OMIM:

164750,310980

Symptoms:

49
  • omphalocele/exomphalos
  • prematurity
  • stillbirth/neonatal death
  • autosomal dominant inheritance

Drugs & Therapeutics for Omphalocele

About this section
Sources:
42NIH Clinical Center, 6ClinicalTrials
See all sources

Drug clinical trials:

Search ClinicalTrials for Omphalocele

Search NIH Clinical Center for Omphalocele

Genetic Tests for Omphalocele

About this section

Anatomical Context for Omphalocele

About this section
Sources:
33MalaCards
See all sources

MalaCards organs/tissues related to Omphalocele:

33
Liver, Skin, Heart, Small intestine, Brain, Spleen, Lung, Placenta, Cortex, Thyroid, Adrenal cortex, Colon, Kidney

Animal Models for Omphalocele or affiliated genes

About this section
Sources:
37MGI
See all sources

Publications for Omphalocele

About this section
Sources:
52PubMed
See all sources

Articles related to Omphalocele:

(show top 50)    (show all 498)
idTitleAuthorsYear
1
Gastroschisis, omphalocele or something else? (23531629)
2014
2
Esophageal atresia, small omphalocele and ileal prolapse through a patent omphalomesenteric duct: a methamizole embryopathy? (23845657)
2013
3
Functional, motor developmental, and long-term outcome after the component separation technique in children with giant omphalocele: a case control study. (23480906)
2013
4
Urological outcomes in the omphalocele exstrophy imperforate anus spinal defects (OEIS) complex: experience with 80 patients. (22640865)
2013
5
Disturbance of SHH signalling pathway during early embryogenesis in the cadmium-induced omphalocele chick model. (23124188)
2013
6
Major omphalocele with liver protrusion. Liver dysmorphism. A case study. (23771092)
2013
7
Presenilin genes are downregulated during somitogenesis in the cadmium-induced omphalocele chick model. (21986620)
2012
8
Prenatal findings of omphalocele-exstrophy of the bladder-imperforate anus-spinal defects (OEIS) complex. (22925220)
2012
9
Omphalocele management using goal-oriented classification in African centre with limited resources. (20923791)
2011
10
Progression of a giant omphalocele in utero: ultrasound and fetal magnetic resonance imaging findings. (20956851)
2010
11
Omphalocele: comparison of outcome following prenatal or postnatal diagnosis. (20509138)
2010
12
Discordant omphalocele-exstrophy-imperforate anus-spinal defects (OEIS) complex and cardiac malformations in monochorionic twins. (19842883)
2009
13
Esophageal obstruction and intracardiac "mass" in association with omphalocele closure. (19231555)
2009
14
Mechanical compression with secondary ischemia as a possible cause of atresias associated with omphalocele. (20006004)
2009
15
Omphalocele minor associated with complete absence of the large bowel. (19517123)
2009
16
Ruptured omphalocele in thoracoomphalopagus conjoined twins. (20187515)
2009
17
Delayed three-stage closure of giant omphalocele using pericard patch. (17628735)
2008
18
Ruptured omphalocele with extracorporeal intestines mimicking gastroschisis in a fetus with Turner syndrome. (17694577)
2007
19
The use of human acellular dermis in the operative management of giant omphalocele. (16410136)
2006
20
Use of sterile adhesive film and polypropylene mesh in the construction of a temporary silo in the treatment of omphalocele. (16034555)
2005
21
A new case of omphalocele with absence of thumb. (15884640)
2005
22
Omphalocele: clinical review and surgical experience using dura patch grafts. (12152643)
2002
23
Management of neglected giant omphalocele with Gore-tex in a child aged 8 years. (12244283)
2002
24
Cardiac diverticulum and omphalocele: Cantrell's pentalogy or syndrome. (11924596)
2002
25
Association between multiple intestinal atresia and omphalocele: a case report. (11486351)
2001
26
Omphalocele, colonic atresia, and Hirschsprung's disease: an unusual cluster of malformations in a single patient. (11315294)
2001
27
Perforation of small intestine inside an internal omphalocele after blunt trauma: case report and review of the literature. (11242304)
2001
28
Monosomy X and omphalocele. (9110374)
1997
29
Respiratory insufficiency at birth: a predictor of mortality for infants with omphalocele. (8863240)
1996
30
Omphalocele and gastroschisis in Europe: a survey of 3 million births 1980-1990. EUROCAT Working Group. (8533813)
1995
31
Down syndrome and omphalocele: an underrecognized association. (8115219)
1994
32
A fetus with sirenomelia, omphalocele, and meningomyelocele, but normal kidneys. (7801305)
1994
33
Genetic-epidemiologic study of omphalocele and gastroschisis: evidence for heterogeneity. (1481831)
1992
34
Omphalocele at 15 weeks. (2668810)
1989
35
Sonographic diagnosis of omphalocele in the first trimester of fetal gestation. (3279232)
1988
36
Abdominal wall defects: omphalocele and gastroschisis (continuing education credit). (2961975)
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
Exstrophy of cloaca with omphalocele: two cases. (6507527)
1984
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

About this section

Expression for genes affiliated with Omphalocele

About this section
Sources:
2BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

About this section
Sources:
50PathCards, 38NCBI BioSystems Database
See all sources

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

About this section
Sources:
45Novoseek, 3BitterDB, 51PharmGKB, 11DrugBank, 29IUPHAR, 24HMDB
See all sources

Compounds related to Omphalocele according to GeneCards/GeneDecks:

(show all 15)
idCompoundScoreTop Affiliating Genes
1polyethylene glycol459.6AFP, IGF2
2azathioprine45 3 51 1112.6IGF2, AFP
3estrone45 29 24 1112.6AFP, IGF2
45-aza-2deoxycytidine459.5CDKN1C, IGF2
5tgf beta1459.5AFP, IGF2
6thyroxine45 2410.5IGF2, AFP
7folate459.4AFP, IGF2
8valine459.3IGF2, AFP
9acth459.3CDKN1C, IGF2
105fluorouracil459.3AFP, IGF2
11alanine459.1MNX1, AFP, IGF2
12nacl459.0AFP, IGF2
13retinoic acid45 2410.0MNX1, AFP, IGF2
14irinotecan45 51 1110.8ACHE, AFP, IGF2
15glutamate458.7IGF2, AFP, ACHE

GO Terms for genes affiliated with Omphalocele

About this section
Sources:
16Gene Ontology
See all sources

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

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Omphalocele

About this section
4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet