eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| megacystis-microcolon-intestinal hypoperistalsis syndrome | ||||
| Disease ID | 1097 |
|---|---|
| Disease | megacystis-microcolon-intestinal hypoperistalsis syndrome |
| Definition | A rare syndrome characterized by the presence of an enlarged and weak bladder (megacystis), a very small large intestine (microcolon), and weak small intestine that does not function properly (hypoperistalsis). It is caused by a disorder of the smooth muscles of the abdomen and gastrointestinal tract. |
| Synonym | berdon syndrome megacystis microcolon intestinal hypoperistalsis syndrome megacystis, microcolon, hypoperistalsis syndrome megacystis, microcolon, hypoperistalsis syndrome (disorder) megacystis, microcolon, intestinal hypoperistalsis syndrome mmih mmih syndrome |
| Orphanet | |
| OMIM | |
| UMLS | C1608393 |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:2) |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:2) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:13) 800 | CALD1 | 2.071 | DISEASES 1137 | CHRNA4 | 1.536 | DISEASES 1719 | DHFR | 2.126 | DISEASES 1756 | DMD | 1.174 | DISEASES 1995 | ELAVL3 | 2.369 | DISEASES 80333 | KCNIP4 | 3.589 | DISEASES 54900 | LAX1 | 3.31 | DISEASES 25802 | LMOD1 | 4.215 | DISEASES 4629 | MYH11 | 3.623 | DISEASES 4638 | MYLK | 2.48 | DISEASES 6525 | SMTN | 3.164 | DISEASES 7453 | WARS | 4.879 | DISEASES 81030 | ZBP1 | 3.186 | DISEASES |
| Locus | Symbol | Locus(Total Locus:2) |
| Disease ID | 1097 |
|---|---|
| Disease | megacystis-microcolon-intestinal hypoperistalsis syndrome |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:17) HP:0000028 | Cryptorchidism HP:0003270 | Abdominal distention HP:0100771 | Hypoperistalsis HP:0000003 | Multicystic kidney dysplasia HP:0100806 | Sepsis HP:0001537 | Umbilical hernia HP:0002564 | Malformation of the heart and great vessels HP:0000072 | Hydroureter HP:0001539 | Omphalocele HP:0002017 | Nausea and vomiting HP:0001522 | Death in infancy HP:0001561 | Polyhydramnios HP:0002566 | Intestinal malrotation HP:0004388 | Microcolon HP:0011024 | Abnormality of the gastrointestinal tract HP:0100544 | Neoplasm of the heart HP:0000021 | Megacystis |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:4) HP:0004392 | Prune belly | 2 HP:0002014 | Diarrhea | 1 HP:0011499 | Mydriasis | 1 HP:0001543 | Gastroschisis | 1 |
| Disease ID | 1097 |
|---|---|
| Disease | megacystis-microcolon-intestinal hypoperistalsis syndrome |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:3) |
| Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:5) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0100544 | Neoplasm of the heart | MP:0011205 | excessive folding of visceral yolk sac | the appearance of wrinkles or folds on the surface of the visceral yolk sac |
| HP:0002017 | Nausea and vomiting | MP:0010426 | abnormal heart and great artery attachment | any anomaly in the in the position or pattern of the connection site of the heart to any of the great arteries, including the pulmonary artery and aorta |
| HP:0001537 | Umbilical hernia | MP:0010146 | umbilical hernia | an outward bulging (protrusion) of the abdominal lining or part of the abdominal organ(s) through the area around the umbilicus; occurs when the muscle through which blood vessels pass to feed the developing fetus fails to completely close |
| HP:0001522 | Death in infancy | MP:0000790 | abnormal stratification in cerebral cortex | abnormal formation or pattern of the layers of the cerebral cortex |
| HP:0000003 | Multicystic kidney dysplasia | MP:0011376 | abnormal kidney corticomedullary boundary morphology | any structural anomaly of the region demarcating the renal medulla from the surrounding cortex; end-stage renal failure may be associated with loss of the normal corticomedullary boundary |
Mapped by homologous gene(Total Items:15) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0000003 | Multicystic kidney dysplasia | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000021 | Megacystis | MP:0012125 | decreased bronchoconstrictive response | reduction in the expected bronchoconstrictive response to provocation challenge with lipopolysaccharide, bradykinin, histamine or other antigen/allergen or agent, often measured by plethysmography |
| HP:0100806 | Sepsis | MP:0011708 | decreased fibroblast cell migration | reduced frequency of or less rapid fibroblast cell migration that is accomplished by extension and retraction of a fibroblast pseudopodium |
| HP:0001561 | Polyhydramnios | MP:0020214 | susceptible to malignant hyperthermia | increased susceptibility to hyperthermia triggered by exposure to certain drugs used for general anesthesia, specifically the volatile anesthetic agents and the neuromuscular blocking agent, succinylcholine |
| HP:0001537 | Umbilical hernia | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP:0003270 | Abdominal distention | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0000028 | Cryptorchidism | MP:3000003 | abnormal Ebner's gland morphology | any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l |
| HP:0100771 | Hypoperistalsis | MP:0012125 | decreased bronchoconstrictive response | reduction in the expected bronchoconstrictive response to provocation challenge with lipopolysaccharide, bradykinin, histamine or other antigen/allergen or agent, often measured by plethysmography |
| HP:0001539 | Omphalocele | MP:0020169 | increased thyroid gland weight | higher than average weight of the thyroid gland |
| HP:0001522 | Death in infancy | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0002566 | Intestinal malrotation | MP:0014155 | absent olfactory epithelium | absence of the epithelial cells that line the interior of the nose |
| HP:0002017 | Nausea and vomiting | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0000072 | Hydroureter | MP:0014044 | absent cardiac outflow tract | absence of or complete failure to form the common arterial trunk that normally forms the aorta and pulmonary artery and the ventricular outflow regions |
| HP:0004388 | Microcolon | MP:0012125 | decreased bronchoconstrictive response | reduction in the expected bronchoconstrictive response to provocation challenge with lipopolysaccharide, bradykinin, histamine or other antigen/allergen or agent, often measured by plethysmography |
| HP:0100544 | Neoplasm of the heart | MP:0012498 | abnormal cardiogenic plate morphology | any structural anomaly of the splanchnic mesodermal thickening which forms cranial and lateral to the developing neural plate; angiogenic cell clusters (aka angioblastic cords) located in a horse-shoe shape configuration in the cardiogenic plate coalesce |
| Disease ID | 1097 |
|---|---|
| Disease | megacystis-microcolon-intestinal hypoperistalsis syndrome |
| Case | (Waiting for update.) |