Gastroschisis malady

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Disease Ontology11 DOID:11044 ICD1030 Q79.3 ICD9CM32 756.73 SNOMED-CT62 72951007

MeSH39 D020139 NCIt45 C84725 UMLS68 C0265706

NIH Rare Diseases:⁴⁸ Gastroschisis is a birth defect that occurs when a baby's intestines extend outside of the body through a hole next to the belly button. this type of defect is known as an abdominal wall defect. sometimes other organs are also involved.   the exact cause of a gastroschisis is usually not known, but it is more common in babies born to young mothers or to mothers who may have used alcohol or tobacco during their pregnancies. gastroschisis is typically diagnosed on routine ultrasound examinations before a baby is born. these babies may need to be born in hospitals with specialists who are experienced in treating gastroschisis. treatment includes a special kind of surgery that gradually returns the intestines to the abdomen (silo repair). prognosis depends primarily on the degree of injury to the bowel, and on the presence of other birth defects. though long-term outcomes for babies born with simple gastroschisis are generally good, some children may have problems with digestion later in life. complications from gastroschisis can include intestinal problems, breathing difficulties, and infection. some cases of gastroschisis may resolve in utero, with closure of the hole of the abdominal wall, resulting in strangulation and destruction of the herniated bowel (vanishing gastroschisis or vanishing gut syndrome), and very short-bowel syndrome. other complications include incomplete bowel (atresia), destruction (necrosis), perforation or twisting (volvulos). the prognosis of these cases is poor, but detecting these problems during pregnancy (antenatal diagnosis) and having fetal intervention may improve the outcome in the future. last updated: 11/21/2016

MalaCards based summary: Gastroschisis, also known as congenital fissure of the abdominal cavity, is related to gastroschisis abdominal wall defects, included and abdominal wall defect, and has symptoms including gastroschisis, intestinal atresia and abnormality of mesentery morphology. An important gene associated with Gastroschisis is AEBP1 (AE Binding Protein 1), and among its related pathways are Differentiation Pathway and IL-9 Signaling Pathways and their Primary Biological Effects in Different Immune Cell Types. Affiliated tissues include skin, liver and small intestine, and related mouse phenotypes are hematopoietic system and homeostasis/metabolism.

Wikipedia:⁷¹ Gastroschisis represents a congenital defect characterised by a defect in the anterior abdominal wall... more...

MGI Mouse Phenotypes related to Gastroschisis according to GeneCards Suite gene sharing:

⁴¹

id	Description	MGI Source Accession	Score	Top Affiliating Genes
1	hematopoietic system	MP:0005397	8.3	ACHE, ADD1, BMP1, IL6, MMP3, NPPA
2	homeostasis/metabolism	MP:0005376	5.8	ACHE, ADD1, AEBP1, BMP1, IL6, MMP1

Search GEO for disease gene expression data for Gastroschisis.