MCID: OMP004
MIFTS: 42

Omphalocele malady

Fetal diseases category

Summaries for Omphalocele

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Sources:
63Wikipedia, 46OMIM, 32MalaCards
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Wikipedia:63 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 cleft palate, 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 are Vitamin digestion and absorption and Metabolism of vitamins and cofactors. The compounds 10-formyltetrahydrofolate and cobalamin have been mentioned in the context of this disorder. Affiliated tissues include liver, and related mouse phenotypes are pigmentation and respiratory system.

Description from OMIM:46 164750,310980

Aliases & Classifications for Omphalocele

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Sources:
48Orphanet, 46OMIM, 60UMLS, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

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


Aliases & Descriptions:

omphalocele 48 46
congenital omphalocele 60


External Ids:

ICD10 via Orphanet26 Q79.2
SNOMED-CT via Orphanet57 18735004

Related Diseases for Omphalocele

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Sources:
17GeneCards, 18GeneDecks
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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 142)
idRelated DiseaseScoreTop Affiliating Genes
1gastroschisis31.2ACHE
2cleft palate29.9SLC19A1, MSX1
3cleft lip29.7MSX1, SLC19A1
4polydactyly29.7ALX4, MSX1
5spina bifida29.7SLC19A1, MTHFD1
6imperforate anus10.5
7shprintzen omphalocele syndrome10.5
8beckwith-wiedemann syndrome10.3
9omphalocele cleft palate syndrome lethal10.3
10congenital diaphragmatic hernia10.2
11omphalocele exstrophy imperforate anus10.2
12down syndrome10.1
13esophagitis10.1
14hepatitis10.1
15ventricular septal defect10.1
16cryptorchidism10.1
17edwards syndrome10.1
18cloacal exstrophy10.1
19diaphragmatic agenesis radial aplasia omphalocele10.1
20acute leukemia10.0MNX1
21parietal foramina 110.0MSX2
22bamforth-lazarus syndrome10.0HOXB2
23tooth agenesis10.0MSX1, MNX1
24hydrocephalus10.0FLNA
25hyperhomocysteinemia10.0SLC19A1
26anencephaly10.0ACHE
27enlarged parietal foramina10.0MSX2, ALX4
28ovarian cancer10.0CGB, CALB2
29gestational trophoblastic tumor10.0CDKN1C, CGB
30prostate cancer10.0CGB, FLNA
31wilms tumor10.0CDKN1C, CALB2
32teratoma10.0MNX1, CGB
33adenocarcinoma10.0CALB2, CGB, CDKN1C
34congenital heart defect10.0SLC19A1, PITX2, ZIC3
35synostosis10.0MSX1, MSX2, ALX4
36colorectal cancer10.0CGB, CDKN1C, SLC19A1
37dentin dysplasia10.0MSX1, MSX2
38intestinal pseudo-obstruction10.0ACHE
39adenoma10.0CDKN1C, CGB, PITX2, CALB2
40focal dermal hypoplasia10.0
41hypoplastic left heart syndrome10.0
42polyhydramnios10.0
43hypoglycemia10.0
44intestinal atresia10.0
45esophageal atresia10.0
46duodenitis10.0
47hepatitis a10.0
48holoprosencephaly10.0
49turner syndrome10.0
50donnai-barrow syndrome10.0

Graphical network of the top 20 diseases related to Omphalocele:



Diseases related to omphalocele

Clinical Features for Omphalocele

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Sources:
46OMIM, 48Orphanet
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Clinical features from OMIM:

164750,310980

Clinical synopsis from OMIM:

164750

Symptoms:

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

Drugs & Therapeutics for Omphalocele

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Omphalocele

Drug clinical trials:

Search ClinicalTrials for Omphalocele

Search NIH Clinical Center for Omphalocele

Search CenterWatch for Omphalocele

Genetic Tests for Omphalocele

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Anatomical Context for Omphalocele

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Sources:
32MalaCards
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MalaCards organs/tissues related to Omphalocele:

32
Liver

Animal Models for Omphalocele or affiliated genes

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Sources:
36MGI
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MGI Mouse Phenotypes related to Omphalocele:

36 (show all 19)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00011869.8MSX2, NUAK1, NUAK2, PITX2
2MP:00053889.6ZIC3, FLNA, MNX1, HOXB4, HOXB2, ALX4
3MP:00053719.6ZIC3, PITX2, CDKN1C, MSX1, MSX2, ALX4
4MP:00053779.5ZIC3, HOXB2, ACHE, MSX1, MSX2
5MP:00053799.5PITX2, MNX1, NUAK2, CDKN1C, SLC19A1, MSX2
6MP:00053699.2PITX2, MNX1, NUAK1, HOXB4, HOXB2, ACHE
7MP:00053859.2ZIC3, BMP1, PITX2, FLNA, MNX1, CDKN1C
8MP:00053809.0NUAK2, PITX2, BMP1, ZIC3, NUAK1, CDKN1C
9MP:00053819.0ZIC3, BMP1, PITX2, FLNA, MNX1, NUAK2
10MP:00053908.9ZIC3, BMP1, PITX2, FLNA, CDKN1C, HOXB4
11MP:00053868.9MNX1, FLNA, CALB2, ZIC3, CDKN1C, HOXB2
12MP:00053918.9NUAK2, FLNA, PITX2, ZIC3, NUAK1, CDKN1C
13MP:00053978.8ZIC3, PITX2, FLNA, CDKN1C, HOXB4, SLC19A1
14MP:00028738.8FLNA, PITX2, CALB2, ZIC3, MNX1, CDKN1C
15MP:00053828.8ALX4, ZIC3, BMP1, PITX2, FLNA, NUAK2
16MP:00053768.7PITX2, FLNA, MTHFD1, MNX1, NUAK2, NUAK1
17MP:00036318.5MNX1, FLNA, PITX2, CALB2, ZIC3, NUAK2
18MP:00053788.0NUAK2, MNX1, MTHFD1, FLNA, PITX2, BMP1
19MP:00107688.0NUAK2, MNX1, MTHFD1, FLNA, PITX2, BMP1

Publications for Omphalocele

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Genetic Variations for Omphalocele

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Expression for genes affiliated with Omphalocele

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Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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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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Sources:
29KEGG, 53Reactome
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Pathways related to Omphalocele according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
110.1TCN2, SLC19A1
2
Hide members
9.9TCN2, SLC19A1, MTHFD1

Compounds for genes affiliated with Omphalocele

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44Novoseek, 24HMDB
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Compounds related to Omphalocele according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
110-formyltetrahydrofolate4410.1SLC19A1, MTHFD1
2cobalamin44 2411.1TCN2, MTHFD1
3homocysteine44 2410.8TCN2, SLC19A1, MTHFD1
4cystathionine449.8TCN2, MTHFD1

GO Terms for genes affiliated with Omphalocele

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Sources:
16Gene Ontology
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Cellular components related to Omphalocele according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1nucleusGO:0056348.5ALX4, PITX2, FLNA, MNX1, NUAK1, CDKN1C

Biological processes related to Omphalocele according to GeneCards/GeneDecks:

(show all 10)
idNameGO IDScoreTop Affiliating Genes
1embryonic nail plate morphogenesisGO:03588010.4MSX2, MSX1
2osteoblast developmentGO:00207610.2MSX2, ACHE
3folic acid metabolic processGO:04665510.2MTHFD1, SLC19A1
4embryonic hindlimb morphogenesisGO:03511610.1PITX2, MSX2, ALX4
5morphogenesis of an epithelial sheetGO:00201110.1HOXB2, HOXB4
6embryonic skeletal system morphogenesisGO:0487049.9ALX4, HOXB2, HOXB4
7water-soluble vitamin metabolic processGO:0067679.9TCN2, SLC19A1, MTHFD1
8anterior/posterior pattern specificationGO:0099529.7ALX4, MSX2, HOXB2, HOXB4, ZIC3
9vitamin metabolic processGO:0067669.6TCN2, SLC19A1, MTHFD1
10negative regulation of transcription from RNA polymerase II promoterGO:0001229.5PITX2, CDKN1C, HOXB4, MSX1, MSX2

Molecular functions related to Omphalocele according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1sequence-specific DNA binding transcription factor activityGO:0037009.2PITX2, MNX1, HOXB4, HOXB2, MSX1, ALX4
2sequence-specific DNA bindingGO:0435658.9ALX4, ZIC3, MNX1, HOXB4, HOXB2, MSX1

Products for genes affiliated with Omphalocele

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet