Omphalocele disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Omphalocele

MalaCards integrated aliases for Omphalocele:

Name: Omphalocele ¹¹ ⁵⁸ ⁵³ ⁵ ¹⁴ ⁷⁵ ³³

Congenital Omphalocele ⁷¹

Exumbilication ³³

Omphalocoele ¹¹

Exomphalos ³³

Characteristics:

Prevelance:

1-5/10000 (Europe, Europe, Austria, Austria, Belgium, Belgium, Croatia, Croatia, Denmark, Denmark, France, France, Germany, Germany, Ireland, Ireland, Italy, Italy, Malta, Malta, Netherlands, Netherlands, Norway, Norway, Poland, Poland, Switzerland, Switzerland, United Kingdom, United Kingdom, Ukraine, Ukraine, Czech Republic, China, United States, United States) 1-9/100000 (Hungary, Hungary, Spain, Spain, Japan) ⁵⁸

Age Of Onset:

Antenatal ⁵⁸

Classifications:

MalaCards categories:
Global: Fetal diseases Rare diseases
Anatomical: Gastrointestinal diseases Liver diseases

See all MalaCards categories (disease lists)

ICD10: ³¹ ³²

Congenital malformations, deformations and chromosomal abnormalities

Congenital malformations and deformations of the musculoskeletal system

Congenital malformations of the musculoskeletal system, not elsewhere classified

Exomphalos

ICD11: ³³

Developmental anomalies

Structural developmental anomalies primarily affecting one body system

Structural developmental anomalies of the diaphragm, abdominal wall or umbilical cord

Omphalocele

Orphanet: ⁵⁸

Developmental anomalies during embryogenesis

External Ids:

Disease Ontology ¹¹ DOID:0060327

ICD9CM ³⁴ 756.72

MeSH ⁴³ D006554

NCIt ⁴⁹ C98997

SNOMED-CT ⁶⁸ 49324006 5867007

ICD10 ³¹ Q79.2

ICD10 via Orphanet ³² Q79.2

UMLS via Orphanet ⁷² C0795690

Orphanet ⁵⁸ ORPHA660

SNOMED-CT via HPO ⁶⁹ 18735004 282020008 367494004 more

ICD11 ³³ 1168696429

UMLS ⁷¹ C0795690 C1306503

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Summaries for Omphalocele

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 otopalatodigital syndrome, type ii and beckwith-wiedemann syndrome. An important gene associated with Omphalocele is PLOD1 (Procollagen-Lysine,2-Oxoglutarate 5-Dioxygenase 1), and among its related pathways/superpathways is Noncanonical Wnt signaling pathway. Affiliated tissues include liver, lung and heart, and related phenotypes are premature birth and omphalocele

Orphanet: ⁵⁸ A rare, non-syndromic, abdominal wall malformation characterized by a hernia of the abdominal wall, centered on the umbilical cord, in which the protruding viscera are protected by a sac.

Wikipedia: ⁷⁵ Omphalocele or omphalocoele also called exomphalos, is a rare abdominal wall defect. Beginning at the... more...

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Related Diseases for Omphalocele

Diseases in the Omphalocele family:

Omphalocele, Autosomal

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

(show top 50) (show all 371)

#	Related Disease	Score	Top Affiliating Genes
1	otopalatodigital syndrome, type ii	31.9	PITX2 FLNA
2	beckwith-wiedemann syndrome	31.5	NSD1 KCNQ1OT1 IGF2 GPC3 DYNC1I2 CDKN1C
3	diaphragmatic hernia, congenital	30.8	GPC3 FREM1 FOXF1
4	macroglossia	30.6	NSD1 CDKN1C
5	anencephaly	30.6	NUAK2 AFP ACHE
6	intestinal atresia	30.5	PITX2 FOXF1 AFP
7	wilms tumor 5	30.3	IGF2 GPC3 CDKN1C
8	spina bifida aperta	30.2	AFP ACHE
9	atrial heart septal defect	30.1	PITX2 NSD1 FOXF1 FLNA
10	patent ductus arteriosus 1	30.0	PITX2 NSD1 FOXF1 FLNA
11	umbilical hernia	30.0	PLOD1 PITX2 KCNQ1OT1 IGF2 DYNC1I2 CDKN1C
12	hemihyperplasia, isolated	29.9	KCNQ1OT1 IGF2 CDKN1C
13	malignant teratoma	29.9	GPC3 AFP
14	wilms tumor 1	29.8	KCNQ1OT1 IGF2 GPC3 DYNC1I2 CDKN1C AFP
15	hepatoblastoma	29.8	IGF2 GPC3 CDKN1C AFP
16	tetralogy of fallot	29.7	ROCK1 PITX2 FOXF1 FLNA
17	mature teratoma	29.7	GPC3 AFP
18	gastroschisis	11.7
19	shprintzen omphalocele syndrome	11.7
20	cloacal exstrophy	11.6
21	omphalocele, autosomal	11.6
22	omphalocele-cleft palate syndrome, lethal	11.5
23	omphalocele, diaphragmatic hernia, and radial ray defects	11.4
24	oeis complex	11.3
25	hydrocephalus with associated malformations	11.3
26	familial omphalocele syndrome with facial dysmorphism	11.3
27	manitoba oculotrichoanal syndrome	11.2
28	teebi hypertelorism syndrome 1	11.1
29	donnai-barrow syndrome	11.1
30	acrocephalopolydactylous dysplasia	11.0
31	3mc syndrome	11.0
32	fibrochondrogenesis	11.0
33	schisis association	11.0
34	bladder exstrophy and epispadias complex	11.0
35	myoectodermal gonadal dysgenesis syndrome	11.0
36	methimazole antenatal exposure	11.0
37	diaphragmatic hernia exomphalos corpus callosum agenesis	11.0
38	omphalocele, x-linked	11.0
39	pagod syndrome	10.9
40	diaphragmatic agenesis radial aplasia omphalocele	10.9
41	focal dermal hypoplasia	10.9
42	miller-dieker lissencephaly syndrome	10.9
43	boomerang dysplasia	10.9
44	3mc syndrome 3	10.9
45	chromosome 9p deletion syndrome	10.9
46	3mc syndrome 1	10.9
47	3mc syndrome 2	10.9
48	fetal encasement syndrome	10.9
49	robinow syndrome, autosomal recessive 2	10.9
50	genitourinary and/or brain malformation syndrome	10.9

Graphical network of the top 20 diseases related to Omphalocele:

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Symptoms & Phenotypes for Omphalocele

Human phenotypes related to Omphalocele:

⁵⁸ ³⁰

#	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	premature birth ⁵⁸ ³⁰	Hallmark (90%)	Very frequent (99-80%)	HP:0001622
2	omphalocele ⁵⁸ ³⁰	Hallmark (90%)	Very frequent (99-80%)	HP:0001539

MGI Mouse Phenotypes related to Omphalocele:

⁴⁵ (show all 11)

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	growth/size/body region	MP:0005378	10.28	ACHE ALX4 ATXN1L CDKN1C FLNA FOXF1
2	nervous system	MP:0003631	10.27	ACHE ALX4 ATXN1L CDKN1C FLNA FREM1
3	muscle	MP:0005369	10.18	ACHE ALX4 CDKN1C FOXF1 FREM1 IGF2
4	embryo	MP:0005380	10.1	ALX4 CDKN1C FOXF1 GPC3 IGF2 KCNQ1OT1
5	craniofacial	MP:0005382	10.06	ACHE ALX4 ATXN1L CDKN1C FLNA FREM1
6	respiratory system	MP:0005388	10.03	ACHE ALX4 ATXN1L CDKN1C FLNA FOXF1
7	digestive/alimentary	MP:0005381	10.02	ALX4 CDKN1C FLNA FOXF1 FREM1 GPC3
8	liver/biliary system	MP:0005370	10	AFP FLNA FOXF1 FREM1 IGF2 KCNQ1OT1
9	skeleton	MP:0005390	9.81	ALX4 ATXN1L CDKN1C FLNA FREM1 GPC3
10	vision/eye	MP:0005391	9.65	ACHE ALX4 CDKN1C FLNA FREM1 IGF2
11	mortality/aging	MP:0010768	9.53	ACHE ALX4 ATXN1L CDKN1C FLNA FOXF1

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Drugs & Therapeutics for Omphalocele

Interventional clinical trials:

#	Name	Status	NCT ID
1	Health Related Quality of Life of Patients With Abdominal Wall Defects	Completed	NCT03960320
2	Management and Outcomes of Congenital Anomalies in Low-, Middle- and High-Income Countries: A Multi-Centre, International, Prospective Cohort Study	Completed	NCT03666767
3	Omphaloceles and Associated Malformations in Preterm and Term Newborns	Recruiting	NCT04126863
4	A Prospective Tolerability and Safety Study of a Powdered Human Milk-based Breastmilk Fortifier (Neokare) in Neonates With Gastrointestinal Problems	Recruiting	NCT05293353
5	Functional Magnetic Resonance Imaging - Blood Oxygenation Level Dependent (MRI-BOLD) of the Feta Lung in Congenital Diaphragmatic and Parietal Malformations	Withdrawn	NCT04186039

Search NIH Clinical Center for Omphalocele

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Genetic Tests for Omphalocele

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Anatomical Context for Omphalocele

Organs/tissues related to Omphalocele:

MalaCards : Liver, Lung, Heart, Placenta, Skin, Uterus, Adrenal Cortex

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Publications for Omphalocele

Articles related to Omphalocele:

(show top 50) (show all 2541)

#	Title	Authors	PMID	Year
1	CDKN1C (p57(Kip2)) analysis in Beckwith-Wiedemann syndrome (BWS) patients: Genotype-phenotype correlations, novel mutations, and polymorphisms. ⁵³ ⁶²	Romanelli V...Lapunzina P	20503313	2010
2	Familial Beckwith-Wiedemann syndrome due to CDKN1C mutation manifesting with recurring omphalocele. ⁵³ ⁶²	Percesepe A...Forabosco A	18395877	2008
3	Syndromes and disorders associated with omphalocele (I): Beckwith-Wiedemann syndrome. ⁵³ ⁶²	Chen CP	17638616	2007
4	Mouse mutant embryos overexpressing IGF-II exhibit phenotypic features of the Beckwith-Wiedemann and Simpson-Golabi-Behmel syndromes. ⁵³ ⁶²	Eggenschwiler J...Efstratiadis A	9389646	1997
5	Second-trimester maternal serum alpha-fetoprotein, unconjugated estriol, and hCG levels in pregnancies with ventral wall defects. ⁵³ ⁶²	Saller DN...Haddow JE	7524003	1994
6	Amniotic fluid acetylcholinesterase is found in gastroschisis but not omphalocele. ⁵³ ⁶²	Saleh AA...Evans MI	8240688	1993
7	High levels of maternal serum alpha-fetoprotein and human chorionic gonadotrophins leading to the diagnosis of combined neural tube defect and partial mole. ⁵³ ⁶²	Zalel Y...Shalev E	1377390	1992
8	OEIS complex-using MRI in diagnostic: Two case reports. ⁶²	Bursac D...Horvat M	36411851	2023
9	Assessing associations between residential proximity to greenspace and birth defects in the National Birth Defects Prevention Study. ⁶²	Weber KA...National Birth Defects Prevention Study	36356662	2023
10	Detection rates of a national fetal anomaly screening programme: A national cohort study. ⁶²	Aldridge N...Stevens S	36054171	2023
11	Ultrasound and molecular prenatal diagnosis of Beckwith-Wiedemann syndrome: Two case reports. ⁶²	de Vasconcelos Gaspar A...Ramos F	36281281	2022
12	"Is anemia frequently recognized in gastroschisis compared to omphalocele? A multicenter retrospective study in southern Japan" by Sugita, K et al. ⁶²	Govani DJ...Patel RV	36454276	2022
13	Abdominal Wall Defects: A Review of Current Practice Guidelines. ⁶²	Mowrer AR...Wagner AJ	36328609	2022
14	Meeting in the middle: pediatric abdominal wall reconstruction for omphalocele. ⁶²	Kondra K...Hammoudeh JA	36153778	2022
15	Can perinatal outcomes of fetal omphalocele be improved at a tertiary center in South China? ⁶²	Xu ST...Li DZ	34496712	2022
16	Bovine omphalocele: errors in embryonic development, veterinarian importance, and the way forward. ⁶²	Boripun R...Sumretprasong J	36107281	2022
17	Quantitative assessment of coat-hanger ribs detected on three-dimensional ultrasound for prenatal diagnosis of Kagami-Ogata syndrome. ⁶²	Kuriki A...Sago H	36087043	2022
18	Pediculated Accessory Liver Lobe with Gallbladder in a Preterm with Umbilical Cord Hernia. ⁶²	Brandtner MG...Metzger R	36421203	2022
19	Successful device closure by Amplatzer vascular plug II of a rare celiacomesenteric trunk-to-right atrium fistula in a repaired giant omphalocele. ⁶²	Chen YH...Hung WL	36373332	2022
20	Combined negative pressure wound therapy with irrigation and dwell time and artificial dermis prevents infection and promotes granulation formation in a ruptured giant omphalocele: a case report. ⁶²	Nakagawa Y...Gohda Y	36435753	2022
21	Anatomy and embryology of abdominal wall defects. ⁶²	Khan FA...Islam S	36446303	2022
22	Prenatal Diagnosis of Bladder Exstrophy and OEIS over 20 Years. ⁶²	Lee T...Borer JG	36460061	2022
23	Beckwith-Wiedemann syndrome with long QT caused by a deletion involving KCNQ1 but not KCNQ1OT1:TSS-DMR. ⁶²	Urakawa T...Kagami M	36402267	2022
24	Fetal Omphalocele: Review of Predictive Factors Important for Antenatal Counseling? ⁶²	Rieder W...Baud D	36345106	2022
25	Outcomes of patients with exomphalos and associated congenital heart diseases. ⁶²	Elhedai H...Seale AN	36441283	2022
26	Management of Abdominal Wall Defects. ⁶²	Staab V	36209747	2022
27	Operative Volume of Newborn Surgery in German University Hospitals: High Volume Versus Low Volume Centers. ⁶²	Lacher M...Rolle U	35026856	2022
28	Comparative Study between Acacia Nilotica versus Povidone Iodine in Topical Treatment of Omphalocele Major. ⁶²	Ali MS...Mokarabin M	36189534	2022
29	Nutritional Management of Infants With A Giant Ruptured Omphalocele: Clinical Observations From A Single Institution Case Series. ⁶²	Burke S...Vu LT	36302247	2022
30	Systemic Inflammation Is Associated with Pulmonary Hypertension in Isolated Giant Omphalocele: A Population-Based Study. ⁶²	Teillet B...Le Duc K	36292445	2022
31	Prenatal diagnosis of fetal ectopia cordis by fetal cardiovascular magnetic resonance imaging. ⁶²	Liu K...Dong SZ	36307940	2022
32	Prevention of Tracheo-Innominate Artery Fistula Formation as a Complication of Tracheostomy: Two Case Reports. ⁶²	Yoo B...Kwak JG	36360331	2022
33	Prenatal diagnosis of rare cloacal exstrophy: A case report. ⁶²	Febriani...Aziz MA	36147113	2022
34	Abnormal inferior vena cava course mimicking inferior vena cava interruption with azygos continuation in the postoperative patient with omphalocele. ⁶²	Takahashi T...Akasaka M	36129632	2022
35	Current Challenges in the Treatment of the Omphalocele-Experience of a Tertiary Center from Romania. ⁶²	Tarca E...Tarca V	36233585	2022
36	Surgical approach and etiopathogenetic considerations to the umbilical tumefactions in cattle: Case review in twenty years (2000/2020). ⁶²	Spadola F...Cascone G	35784586	2022
37	How late in pregnancy can fetal physiological omphalocele be seen? Nationwide study of cases in Denmark over 4-year period. ⁶²	Hornstrup LS...Jorgensen FS	35561105	2022
38	The association of nausea and vomiting of pregnancy, its treatments, and select birth defects: Findings from the National Birth Defect Prevention Study. ⁶²	Schrager NL...For The National Birth Defects Prevention Study	36168701	2022
39	Pattern Recognition of Abdominal Vasculature on Color Doppler in the Fetus as a Tool for Early Diagnosis of Bladder Exstrophy in the First and Early-Second Trimester: Initial Observations. ⁶²	Aneja K...Deshmukh MS	36177283	2022
40	A case of congenital cloacal exstrophy/omphalocele-exstrophy-imperforate anus-spinal defects syndrome and a successful pregnancy. ⁶²	Seat M...Goodwin G	36097738	2022
41	Is anemia frequently recognized in gastroschisis compared to omphalocele? A multicenter retrospective study in southern Japan. ⁶²	Sugita K...Ieiri S	35764762	2022
42	Coexisting gastrointestinal and hepatobiliary tract anomalies in omphalocele and gastroschisis: A twenty-year experience in a single tertiary medical center. ⁶²	Wen CC...Tseng YJ	35641386	2022
43	NAD+ deficiency in human congenital malformations and miscarriage: A new model of pleiotropy. ⁶²	Mark PR	35484986	2022
44	Non-Isolated Neural Tube Defects with Comorbid Malformations Are Responsive to Population-Level Folic Acid Supplementation in Northern China. ⁶²	Che X...Li Z	36138850	2022
45	Influenza vaccination during pregnancy and risk of selected major structural noncardiac birth defects, National Birth Defects Prevention Study 2006-2011. ⁶²	Palmsten K...National Birth Defects Prevention Study	35366035	2022
46	Correlation between estimated fetal weight and weight at birth in infants with gastroschisis and omphalocele. ⁶²	Boute T...Rolo LC	32814485	2022
47	An infant with patau syndrome associated with congenital heart defects. ⁶²	Khan U...Abiddin ZU	36045789	2022
48	Clinical Spectrum and Tumour Risk Analysis in Patients with Beckwith-Wiedemann Syndrome Due to CDKN1C Pathogenic Variants. ⁶²	Cardoso LCA...Lapunzina P	35954470	2022
49	A Method of Conservative Management of Giant Omphalocele Useful in Preventing Rupture of Sac. ⁶²	Odion-Obomhense HK...Onyeaso S	36057973	2022
50	Ruptured omphalocele with ischemic bowels. ⁶²	Cheng CY...Huang HC	35396198	2022

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Genes for Omphalocele

Genes related to Omphalocele (1 elite genes):

(show all 28)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	PLOD1	Procollagen-Lysine,2-Oxoglutarate 5-Dioxygenase 1	Protein Coding	400	Pathogenic ⁵
2	CDKN1C	Cyclin Dependent Kinase Inhibitor 1C	Protein Coding	22.07	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Disorders (show sections)	17638616 20503313 18395877
3	FLNA	Filamin A	Protein Coding	19.92	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications (show sections)
4	FREM1	FRAS1 Related Extracellular Matrix 1	Protein Coding	12.32	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders (show sections)
5	GPC3	Glypican 3	Protein Coding	11.87	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders (show sections)
6	PPP2R3C	Protein Phosphatase 2 Regulatory Subunit B''Gamma	Protein Coding	11.75	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders (show sections)
7	AFP	Alpha Fetoprotein	Protein Coding	11.28	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	7524003 1377390
8	NSD1	Nuclear Receptor Binding SET Domain Protein 1	Protein Coding	11.24	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders (show sections)
9	NUAK1	NUAK Family Kinase 1	Protein Coding	11.07	DISEASES inferred ¹⁴ GeneCards inferred via : Gene name (show sections)
10	NUAK2	NUAK Family Kinase 2	Protein Coding	10.66	DISEASES inferred ¹⁴ GeneCards inferred via : Gene name (show sections)
11	IGF2	Insulin Like Growth Factor 2	Protein Coding	10.02	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	9389646
12	OPHLC	Omphalocele Due To Duplication Of 1p31.3	Genetic Locus	7.74	GeneCards inferred via : Gene name (show sections)
13	ACHE	Acetylcholinesterase (Cartwright Blood Group)	Protein Coding	7.54	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	8240688
14	DYNC1I2	Dynein Cytoplasmic 1 Intermediate Chain 2	Protein Coding	7.14	DISEASES inferred ¹⁴
15	KCNQ1OT1	KCNQ1 Opposite Strand/Antisense Transcript 1	RNA Gene	6.86	DISEASES inferred ¹⁴
16	FOXF1	Forkhead Box F1	Protein Coding	6	DISEASES inferred ¹⁴
17	ROCK1	Rho Associated Coiled-Coil Containing Protein Kinase 1	Protein Coding	5.8	DISEASES inferred ¹⁴
18	ALX4	ALX Homeobox 4	Protein Coding	5.73	DISEASES inferred ¹⁴
19	PITX2	Paired Like Homeodomain 2	Protein Coding	5.72	DISEASES inferred ¹⁴
20	ATXN1L	Ataxin 1 Like	Protein Coding	5.7	DISEASES inferred ¹⁴
21	KCNQ1	Potassium Voltage-Gated Channel Subfamily Q Member 1	Protein Coding	5.66	DISEASES inferred ¹⁴
22	FENDRR	FOXF1 Adjacent Non-Coding Developmental Regulatory RNA	RNA Gene	5.64	DISEASES inferred ¹⁴
23	SHH	Sonic Hedgehog Signaling Molecule	Protein Coding	5.61	DISEASES inferred ¹⁴
24	SPECC1L	Sperm Antigen With Calponin Homology And Coiled-Coil Domains 1 Like	Protein Coding	5.46	DISEASES inferred ¹⁴
25	MNX1	Motor Neuron And Pancreas Homeobox 1	Protein Coding	5.44	DISEASES inferred ¹⁴
26	TGM1	Transglutaminase 1	Protein Coding	5.4	DISEASES inferred ¹⁴
27	MSX1	Msh Homeobox 1	Protein Coding	5.4	DISEASES inferred ¹⁴
28	SLC32A1	Solute Carrier Family 32 Member 1	Protein Coding	5.36	DISEASES inferred ¹⁴

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Variations for Omphalocele

ClinVar genetic disease variations for Omphalocele:

⁵

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	PLOD1	NM_000302.4(PLOD1):c.1562G>A (p.Trp521Ter)	SNV	Pathogenic	374077	rs1057518879	GRCh37: 1:12025628-12025628 GRCh38: 1:11965571-11965571
2	PGAP2	NM_014489.4(PGAP2):c.97G>A (p.Ala33Thr)	SNV	Uncertain Significance	816936	rs1564998996	GRCh37: 11:3832586-3832586 GRCh38: 11:3811356-3811356
3	FLNA	NM_001110556.2(FLNA):c.571G>T (p.Asp191Tyr)	SNV	Uncertain Significance	1683530		GRCh37: X:153596261-153596261 GRCh38: X:154367893-154367893
4	NEK9	NM_033116.6(NEK9):c.326ACA[1] (p.Asn110del)	MICROSAT	Uncertain Significance	1683733		GRCh37: 14:75590815-75590817 GRCh38: 14:75124112-75124114
5	overlap with 3 genes	GRCh37/hg19 17p13.3(chr17:468095-661692)x1	CN LOSS	Uncertain Significance	1704314		GRCh37: 17:468095-661692 GRCh38:
6	PTCH1	NM_000264.5(PTCH1):c.945+5G>T	SNV	Uncertain Significance	1700703		GRCh37: 9:98242667-98242667 GRCh38: 9:95480385-95480385
7	SPECC1L-ADORA2A, SPECC1L	NM_015330.6(SPECC1L):c.1024A>G (p.Met342Val)	SNV	Uncertain Significance	1708334		GRCh37: 22:24717972-24717972 GRCh38: 22:24322004-24322004
8	LAMA5	NM_005560.6(LAMA5):c.857G>T (p.Arg286Leu)	SNV	Uncertain Significance	986382	rs962267864	GRCh37: 20:60926966-60926966 GRCh38: 20:62351910-62351910

Copy number variations for Omphalocele from CNVD:

⁶

#	CNVD ID	Chromosome	Start	End	Type	Gene Symbol	CNVD Disease
1	137137	2	138750000	144750000	Deletion	ARHGAP15	Omphalocele
2	137141	2	138750000	144750000	Deletion	GTDC1	Omphalocele
3	137145	2	138750000	144750000	Deletion	HNMT	Omphalocele
4	137149	2	138750000	144750000	Deletion	KYNU	Omphalocele
5	137153	2	138750000	144750000	Deletion		Omphalocele
6	137157	2	138750000	144750000	Deletion	LRP1B	Omphalocele
7	137161	2	138750000	144750000	Deletion	NXPH2	Omphalocele
8	137165	2	138750000	144750000	Deletion	SPOPL	Omphalocele

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Expression for Omphalocele

Search GEO for disease gene expression data for Omphalocele.

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Pathways for Omphalocele

Pathways related to Omphalocele according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	Noncanonical Wnt signaling pathway ⁶¹	10.04	ROCK1 FLNA

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GO Terms for Omphalocele

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

#	Name	GO ID	Score	Top Affiliating Genes
1	embryonic placenta morphogenesis	GO:0060669	8.92	IGF2 CDKN1C

Sources

Sources for Omphalocele

¹ BitterDB

² CDC

³ Cell Signaling Technology

⁴ ClinicalTrials

⁵ ClinVar

⁶ CNVD

⁷ Cochrane Library

⁸ Cosmic

⁹ dbSNP

¹⁰ DGIdb

¹¹ Disease Ontology

¹² diseasecard

¹³ DiseaseEnhancer

¹⁴ DISEASES

¹⁵ DrugBank

¹⁶ EFO

¹⁷ ExPASy

¹⁸ FMA

¹⁹ GARD

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ GenomeRNAi

²⁶ GEO DataSets

²⁷ GO

²⁸ GTR

²⁹ HMDB

³⁰ HPO

³¹ ICD10

³² ICD10 via Orphanet

³³ ICD11

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ LifeMap

³⁷ LncRNADisease

³⁸ LOVD

³⁹ MalaCards

⁴⁰ MedGen

⁴¹ MedlinePlus

⁴² MedlinePlus Genetics

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NINDS

⁵³ Novoseek

⁵⁴ Novus Biologicals

⁵⁵ ODiseA

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 08-Dec-2022)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubChem

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ WikiPathways

⁷⁵ Wikipedia

MCID: OMP004 MIFTS: 45	Omphalocele Categories: Fetal diseases, Gastrointestinal diseases, Liver diseases, Rare diseases	Data Licensing For inquiries, contact: [email protected]
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