PedAM

Pediatric Disease Annotations & Medicines


	gastroschisis

Disease ID	90
Disease	gastroschisis
Definition	A congenital defect with major fissure in the ABDOMINAL WALL lateral to, but not at, the UMBILICUS. This results in the extrusion of VISCERA. Unlike OMPHALOCELE, herniated structures in gastroschisis are not covered by a sac or PERITONEUM.
Synonym	congenital fissure of the abdominal cavity gastroschises gastroschisis (disorder) gastroschisis [disease/finding]
Orphanet	ORPHANET:2368
OMIM	OMIM:230750
DOID	DOID:11044
ICD10	ICD10CM:Q79.3
UMLS	C0265706
MeSH	D020139
SNOMED-CT	SNOMEDCT_US_2016_09_01:72951007
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:10) C0021828 \| intestinal atresia \| 7 C0036992 \| short bowel syndrome \| 2 C0795690 \| omphalocele \| 2 C0042961 \| intestinal volvulus \| 1 C0021843 \| bowel obstruction \| 1 C0039538 \| teratoma \| 1 C0042961 \| volvulus \| 1 C0038353 \| gastric dilation \| 1 C0019569 \| hirschsprung's disease \| 1 C0036439 \| scoliosis \| 1
Curated Gene	(Waiting for update.)
Inferring Gene	Entrez_id \| Symbol \| Resource(Total Genes:4) 118 \| ADD1 \| infer 3383 \| ICAM1 \| infer 4846 \| NOS3 \| infer 4878 \| NPPA \| infer
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:75) 4830 \| NME1 \| DISEASES 4826 \| NNAT \| DISEASES 7087 \| ICAM5 \| DISEASES 3199 \| HOXA2 \| DISEASES 165 \| AEBP1 \| DISEASES 6783 \| SULT1E1 \| DISEASES 2784 \| GNB3 \| DISEASES 5948 \| RBP2 \| DISEASES 7043 \| TGFB3 \| DISEASES 3215 \| HOXB5 \| DISEASES 7291 \| TWIST1 \| DISEASES 2670 \| GFAP \| DISEASES 1401 \| CRP \| DISEASES 29969 \| MDFIC \| DISEASES 3569 \| IL6 \| DISEASES 6496 \| SIX3 \| DISEASES 23314 \| SATB2 \| DISEASES 25939 \| SAMHD1 \| DISEASES 6855 \| SYP \| DISEASES 3938 \| LCT \| DISEASES 590 \| BCHE \| DISEASES 118 \| ADD1 \| DISEASES 2252 \| FGF7 \| DISEASES 409 \| ARRB2 \| DISEASES 3756 \| KCNH1 \| DISEASES 5047 \| PAEP \| DISEASES 23643 \| LY96 \| DISEASES 1836 \| SLC26A2 \| DISEASES 4838 \| NODAL \| DISEASES 3815 \| KIT \| DISEASES 7203 \| CCT3 \| DISEASES 213 \| ALB \| DISEASES 116844 \| LRG1 \| DISEASES 140738 \| TMEM37 \| DISEASES 43 \| ACHE \| DISEASES 2525 \| FUT3 \| DISEASES 649 \| BMP1 \| DISEASES 8490 \| RGS5 \| DISEASES 137814 \| NKX2-6 \| DISEASES 10611 \| PDLIM5 \| DISEASES 6817 \| SULT1A1 \| DISEASES 5034 \| P4HB \| DISEASES 5069 \| PAPPA \| DISEASES 29940 \| DSE \| DISEASES 27445 \| PCLO \| DISEASES 4987 \| OPRL1 \| DISEASES 3266 \| ERAS \| DISEASES 445329 \| SULT1A4 \| DISEASES 3386 \| ICAM4 \| DISEASES 6818 \| SULT1A3 \| DISEASES 23481 \| PES1 \| DISEASES 1717 \| DHCR7 \| DISEASES 26503 \| SLC17A5 \| DISEASES 23513 \| SCRIB \| DISEASES 871 \| SERPINH1 \| DISEASES 9937 \| DCLRE1A \| DISEASES 9118 \| INA \| DISEASES 55361 \| PI4K2A \| DISEASES 23413 \| NCS1 \| DISEASES 2934 \| GSN \| DISEASES 26190 \| FBXW2 \| DISEASES 4878 \| NPPA \| DISEASES 54897 \| CASZ1 \| DISEASES 6439 \| SFTPB \| DISEASES 174 \| AFP \| DISEASES 2950 \| GSTP1 \| DISEASES 146713 \| RBFOX3 \| DISEASES 1719 \| DHFR \| DISEASES 7439 \| BEST1 \| DISEASES 79827 \| CLMP \| DISEASES 408 \| ARRB1 \| DISEASES 3712 \| IVD \| DISEASES 23741 \| EID1 \| DISEASES 26298 \| EHF \| DISEASES 9 \| NAT1 \| DISEASES
Locus	(Waiting for update.)

Disease ID	90
Disease	gastroschisis
Integrated Phenotype	HPO \| Name(Total Integrated Phenotypes:3) HP:0100016 \| Abnormality of the mesentery HP:0001543 \| Gastroschisis HP:0011100 \| Intestinal atresia
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:21) HP:0011100 \| Intestinal atresia \| 5 HP:0000078 \| Genital abnormalities \| 3 HP:0010448 \| Large intestinal atresia \| 2 HP:0001539 \| Omphalocele \| 2 HP:0001622 \| Premature delivery \| 2 HP:0010866 \| Congenital anterior abdominal wall defect \| 1 HP:0002580 \| Volvulus \| 1 HP:0001518 \| Small for gestational age \| 1 HP:0030770 \| Craniorachischisis \| 1 HP:0000010 \| Frequent urinary tract infections \| 1 HP:0002566 \| Intestinal malrotation \| 1 HP:0000028 \| Cryptorchidism \| 1 HP:0002650 \| Scoliosis \| 1 HP:0009792 \| Teratoma \| 1 HP:0011968 \| Feeding difficulties \| 1 HP:0000322 \| Short philtrum \| 1 HP:0030736 \| Sacrococcygeal teratoma \| 1 HP:0005235 \| Jejunal atresia \| 1 HP:0002089 \| Hypoplastic lungs \| 1 HP:0001511 \| Prenatal onset growth retardation \| 1 HP:0001683 \| Ectopia cordis \| 1

Disease ID	90
Disease	gastroschisis
Manually Symptom	UMLS \| Name(Total Manually Symptoms:15) C2707258 \| infections C1963165 \| malabsorption C0860204 \| cholestatic liver disease C0795690 \| omphalocele C0268059 \| neonatal haemochromatosis C0079924 \| oligohydramnios C0036992 \| short bowel syndrome C0031154 \| peritonitis C0021828 \| intestinal atresia C0021308 \| infarction C0020598 \| hypocalcemia C0013418 \| dystocia C0009492 \| compartment syndrome C0008732 \| chylous ascites C0008370 \| cholestasis
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:4) C0021828 \| intestinal atresia \| 5 C0036992 \| short bowel syndrome \| 2 C0795690 \| omphalocele \| 2 C0021311 \| infections \| 1

Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)

All Snps(Total Genotypes:12)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs1799969	17051589	118	ADD1	umls:C0265706	BeFree	In logistic regression, controlling for maternal ethnicity, and using the homozygote wild-type as referent, the following gene polymorphisms were associated with an increased risk for a gastroschisis for heterozygotes: ICAM1 gly241arg (odds ratio [OR], 1.9; 95% confidence interval [CI], 1.1 -3.4); NOS3 glu298asp (OR, 1.9; 95% CI, 1.1-3.4); NPPA 2238T > C (OR, 1.9; 95% CI, 1.0-3.4); and ADD1 gly460trp (OR, 1.5; 95% CI, 0.8-2.8).	0.002638474	2006	ICAM1;LOC105372272	19	10284116	G	A
rs1799969	17051589	4846	NOS3	umls:C0265706	BeFree	In logistic regression, controlling for maternal ethnicity, and using the homozygote wild-type as referent, the following gene polymorphisms were associated with an increased risk for a gastroschisis for heterozygotes: ICAM1 gly241arg (odds ratio [OR], 1.9; 95% confidence interval [CI], 1.1 -3.4); NOS3 glu298asp (OR, 1.9; 95% CI, 1.1-3.4); NPPA 2238T > C (OR, 1.9; 95% CI, 1.0-3.4); and ADD1 gly460trp (OR, 1.5; 95% CI, 0.8-2.8).	0.002909916	2006	ICAM1;LOC105372272	19	10284116	G	A
rs1799969	17051589	3383	ICAM1	umls:C0265706	BeFree	In logistic regression, controlling for maternal ethnicity, and using the homozygote wild-type as referent, the following gene polymorphisms were associated with an increased risk for a gastroschisis for heterozygotes: ICAM1 gly241arg (odds ratio [OR], 1.9; 95% confidence interval [CI], 1.1 -3.4); NOS3 glu298asp (OR, 1.9; 95% CI, 1.1-3.4); NPPA 2238T > C (OR, 1.9; 95% CI, 1.0-3.4); and ADD1 gly460trp (OR, 1.5; 95% CI, 0.8-2.8).	0.002638474	2006	ICAM1;LOC105372272	19	10284116	G	A
rs1799969	17051589	4878	NPPA	umls:C0265706	BeFree	In logistic regression, controlling for maternal ethnicity, and using the homozygote wild-type as referent, the following gene polymorphisms were associated with an increased risk for a gastroschisis for heterozygotes: ICAM1 gly241arg (odds ratio [OR], 1.9; 95% confidence interval [CI], 1.1 -3.4); NOS3 glu298asp (OR, 1.9; 95% CI, 1.1-3.4); NPPA 2238T > C (OR, 1.9; 95% CI, 1.0-3.4); and ADD1 gly460trp (OR, 1.5; 95% CI, 0.8-2.8).	0.002638474	2006	ICAM1;LOC105372272	19	10284116	G	A
rs1799983	17051589	118	ADD1	umls:C0265706	BeFree	In logistic regression, controlling for maternal ethnicity, and using the homozygote wild-type as referent, the following gene polymorphisms were associated with an increased risk for a gastroschisis for heterozygotes: ICAM1 gly241arg (odds ratio [OR], 1.9; 95% confidence interval [CI], 1.1 -3.4); NOS3 glu298asp (OR, 1.9; 95% CI, 1.1-3.4); NPPA 2238T > C (OR, 1.9; 95% CI, 1.0-3.4); and ADD1 gly460trp (OR, 1.5; 95% CI, 0.8-2.8).	0.002638474	2006	NOS3	7	150999023	T	G
rs1799983	17051589	4878	NPPA	umls:C0265706	BeFree	In logistic regression, controlling for maternal ethnicity, and using the homozygote wild-type as referent, the following gene polymorphisms were associated with an increased risk for a gastroschisis for heterozygotes: ICAM1 gly241arg (odds ratio [OR], 1.9; 95% confidence interval [CI], 1.1 -3.4); NOS3 glu298asp (OR, 1.9; 95% CI, 1.1-3.4); NPPA 2238T > C (OR, 1.9; 95% CI, 1.0-3.4); and ADD1 gly460trp (OR, 1.5; 95% CI, 0.8-2.8).	0.002638474	2006	NOS3	7	150999023	T	G
rs1799983	17051589	4846	NOS3	umls:C0265706	BeFree	In logistic regression, controlling for maternal ethnicity, and using the homozygote wild-type as referent, the following gene polymorphisms were associated with an increased risk for a gastroschisis for heterozygotes: ICAM1 gly241arg (odds ratio [OR], 1.9; 95% confidence interval [CI], 1.1 -3.4); NOS3 glu298asp (OR, 1.9; 95% CI, 1.1-3.4); NPPA 2238T > C (OR, 1.9; 95% CI, 1.0-3.4); and ADD1 gly460trp (OR, 1.5; 95% CI, 0.8-2.8).	0.002909916	2006	NOS3	7	150999023	T	G
rs1799983	17051589	3383	ICAM1	umls:C0265706	BeFree	In logistic regression, controlling for maternal ethnicity, and using the homozygote wild-type as referent, the following gene polymorphisms were associated with an increased risk for a gastroschisis for heterozygotes: ICAM1 gly241arg (odds ratio [OR], 1.9; 95% confidence interval [CI], 1.1 -3.4); NOS3 glu298asp (OR, 1.9; 95% CI, 1.1-3.4); NPPA 2238T > C (OR, 1.9; 95% CI, 1.0-3.4); and ADD1 gly460trp (OR, 1.5; 95% CI, 0.8-2.8).	0.002638474	2006	NOS3	7	150999023	T	G
rs4961	17051589	3383	ICAM1	umls:C0265706	BeFree	In logistic regression, controlling for maternal ethnicity, and using the homozygote wild-type as referent, the following gene polymorphisms were associated with an increased risk for a gastroschisis for heterozygotes: ICAM1 gly241arg (odds ratio [OR], 1.9; 95% confidence interval [CI], 1.1 -3.4); NOS3 glu298asp (OR, 1.9; 95% CI, 1.1-3.4); NPPA 2238T > C (OR, 1.9; 95% CI, 1.0-3.4); and ADD1 gly460trp (OR, 1.5; 95% CI, 0.8-2.8).	0.002638474	2006	ADD1	4	2904980	G	T
rs4961	17051589	118	ADD1	umls:C0265706	BeFree	In logistic regression, controlling for maternal ethnicity, and using the homozygote wild-type as referent, the following gene polymorphisms were associated with an increased risk for a gastroschisis for heterozygotes: ICAM1 gly241arg (odds ratio [OR], 1.9; 95% confidence interval [CI], 1.1 -3.4); NOS3 glu298asp (OR, 1.9; 95% CI, 1.1-3.4); NPPA 2238T > C (OR, 1.9; 95% CI, 1.0-3.4); and ADD1 gly460trp (OR, 1.5; 95% CI, 0.8-2.8).	0.002638474	2006	ADD1	4	2904980	G	T
rs4961	17051589	4846	NOS3	umls:C0265706	BeFree	In logistic regression, controlling for maternal ethnicity, and using the homozygote wild-type as referent, the following gene polymorphisms were associated with an increased risk for a gastroschisis for heterozygotes: ICAM1 gly241arg (odds ratio [OR], 1.9; 95% confidence interval [CI], 1.1 -3.4); NOS3 glu298asp (OR, 1.9; 95% CI, 1.1-3.4); NPPA 2238T > C (OR, 1.9; 95% CI, 1.0-3.4); and ADD1 gly460trp (OR, 1.5; 95% CI, 0.8-2.8).	0.002909916	2006	ADD1	4	2904980	G	T
rs4961	17051589	4878	NPPA	umls:C0265706	BeFree	In logistic regression, controlling for maternal ethnicity, and using the homozygote wild-type as referent, the following gene polymorphisms were associated with an increased risk for a gastroschisis for heterozygotes: ICAM1 gly241arg (odds ratio [OR], 1.9; 95% confidence interval [CI], 1.1 -3.4); NOS3 glu298asp (OR, 1.9; 95% CI, 1.1-3.4); NPPA 2238T > C (OR, 1.9; 95% CI, 1.0-3.4); and ADD1 gly460trp (OR, 1.5; 95% CI, 0.8-2.8).	0.002638474	2006	ADD1	4	2904980	G	T

GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)

GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)

Mapped by lexical matching(Total Items:0)
(Waiting for update.)

Mapped by homologous gene(Total Items:0)
(Waiting for update.)

Chemical(Total Drugs:1)
CUI	ChemicalName	ChemicalID	CasRN	DiseaseName	DiseaseID	DirectEvidence	PubMedIDs
C0265706	thalidomide	D013792	50-35-1	gastroschisis	MESH:D020139	marker/mechanism	21505091

FDA approved drug and dosage information(Total Drugs:0)
(Waiting for update.)

FDA labeling changes(Total Drugs:0)
(Waiting for update.)

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