eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| congenital short bowel syndrome | ||||
| Disease ID | 197 |
|---|---|
| Disease | congenital short bowel syndrome |
| Definition | A type of ILEUS, a functional not mechanical obstruction of the INTESTINES. This syndrome is caused by a large number of disorders involving the smooth muscles (MUSCLE, SMOOTH) or the NERVOUS SYSTEM. |
| Synonym | chronic idiopathic intestinal pseudo-obstruction congenital short bowel syndrome (disorder) csbs enteric neuropathy idiopathic intestinal pseudo-obstruction idiopathic intestinal pseudo-obstructions intestinal pseudo obstruction intestinal pseudo obstruction, idiopathic intestinal pseudo-obstruction intestinal pseudo-obstruction [disease/finding] intestinal pseudo-obstruction, idiopathic intestinal pseudo-obstructions intestinal pseudo-obstructions, idiopathic intestinal pseudoobstruction intestinal pseudoobstructions intestine pseudoobstruction intestine, pseudoobstruction pseudo intestinal obstruction pseudo obstruction intestinal pseudo obstruction, intestinal pseudo-obstruction of intestine pseudo-obstruction of intestine (disorder) pseudo-obstruction, idiopathic intestinal pseudo-obstruction, intestinal pseudo-obstructions, idiopathic intestinal pseudo-obstructions, intestinal pseudointestinal obstruction syndrome pseudoobstruction, intestinal pseudoobstructions, intestinal pseudoobstructive syndrome |
| Orphanet | |
| OMIM | |
| DOID | |
| UMLS | C0021847 |
| MeSH | |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:16) C0409974 | lupus erythematosus | 3 C0024141 | systemic lupus erythematosus | 3 C0036421 | systemic sclerosis | 2 C0042961 | volvulus | 2 C0152020 | gastroparesis | 1 C0751651 | mitochondrial disease | 1 C0013473 | eating disorder | 1 C0751651 | mitochondrial diseases | 1 C0442874 | neuropathy | 1 C0026848 | myopathy | 1 C0021843 | intestinal obstruction | 1 C0009806 | constipation | 1 C0025160 | megacolon | 1 C0014848 | achalasia | 1 C0031511 | phaeochromocytoma | 1 C0026691 | kawasaki disease | 1 |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:2) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:41) 229 | ALDOB | 1.591 | DISEASES 54840 | APTX | 1.862 | DISEASES 6314 | ATXN7 | 1.446 | DISEASES 567 | B2M | 2.486 | DISEASES 885 | CCK | 1.245 | DISEASES 959 | CD40LG | 1.65 | DISEASES 79827 | CLMP | 2.772 | DISEASES 1431 | CS | 1.705 | DISEASES 1760 | DMPK | 1.324 | DISEASES 1785 | DNM2 | 1.824 | DISEASES 1908 | EDN3 | 1.202 | DISEASES 1910 | EDNRB | 1.453 | DISEASES 1995 | ELAVL3 | 2.401 | DISEASES 132884 | EVC2 | 1.895 | DISEASES 2316 | FLNA | 2.926 | DISEASES 4303 | FOXO4 | 1.425 | DISEASES 51738 | GHRL | 1.022 | DISEASES 9446 | GSTO1 | 1.484 | DISEASES 3360 | HTR4 | 2.286 | DISEASES 3363 | HTR7 | 1.791 | DISEASES 102723508 | KANTR | 1.779 | DISEASES 3778 | KCNMA1 | 2.245 | DISEASES 3897 | L1CAM | 1.808 | DISEASES 4295 | MLN | 4.076 | DISEASES 4567 | MT-TL1 | 3.14 | DISEASES 4629 | MYH11 | 3.064 | DISEASES 4638 | MYLK | 2.982 | DISEASES 93649 | MYOCD | 1.78 | DISEASES 136541 | PRSS58 | 1.943 | DISEASES 5979 | RET | 1.527 | DISEASES 6331 | SCN5A | 1.685 | DISEASES 6609 | SMPD1 | 1.087 | DISEASES 6525 | SMTN | 3.786 | DISEASES 6625 | SNRNP70 | 1.013 | DISEASES 6663 | SOX10 | 2.172 | DISEASES 7019 | TFAM | 1.353 | DISEASES 3195 | TLX1 | 1.824 | DISEASES 7432 | VIP | 2.015 | DISEASES 7453 | WARS | 2.377 | DISEASES 81030 | ZBP1 | 2.26 | DISEASES 9278 | ZBTB22 | 1.718 | DISEASES |
| Locus | Symbol | Locus(Total Locus:2) |
| Disease ID | 197 |
|---|---|
| Disease | congenital short bowel syndrome |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:7) HP:0100627 | Displacement of the external urethral meatus HP:0001006 | Hypotrichosis HP:0100543 | Cognitive impairment HP:0004322 | Short stature HP:0002566 | Intestinal malrotation HP:0100578 | Lipoatrophy HP:0005245 | Intestinal hypoplasia |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:13) HP:0002725 | Systemic lupus erythematosus | 3 HP:0002580 | Volvulus | 2 HP:0002251 | Hirschsprung megacolon | 2 HP:0005214 | Bowel obstruction | 1 HP:0011947 | Respiratory infection | 1 HP:0002019 | Dyschezia | 1 HP:0002571 | Achalasia | 1 HP:0000155 | Oral ulcer | 1 HP:0002015 | Swallowing difficulty | 1 HP:0001541 | Ascites | 1 HP:0002583 | Colitis | 1 HP:0003198 | Myopathic changes | 1 HP:0002578 | Gastroparesis | 1 |
| Disease ID | 197 |
|---|---|
| Disease | congenital short bowel syndrome |
| Manually Symptom | (Waiting for update.) |
| Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Manually Genotypes:1) | |||
|---|---|---|---|
| Gene | Mutation | DOI | Article Title |
| FLNA | c.65-66delAC, c.16-17delCT | doi:10.1038/gim.2012.123 | Congenital short bowel syndrome as the presenting symptom in male patients with FLNA mutations |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:4) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs587776964 | NA | 79827 | CLMP | umls:C0021847 | CLINVAR | NA | 0.240542884 | NA | CLMP;LOC101929289 | 11 | 123084670 | T | - |
| rs587776965 | NA | 79827 | CLMP | umls:C0021847 | CLINVAR | NA | 0.240542884 | NA | CLMP;LOC101929289 | 11 | 123074702 | C | T |
| rs587776966 | NA | 79827 | CLMP | umls:C0021847 | CLINVAR | NA | 0.240542884 | NA | CLMP;LOC101929289 | 11 | 123083100 | G | A |
| rs587776967 | NA | 79827 | CLMP | umls:C0021847 | CLINVAR | NA | 0.240542884 | NA | CLMP;LOC101929289 | 11 | 123084529 | A | T |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:1) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0100627 | Displacement of the external urethral meatus | MP:0012069 | abnormal horizontal basal cell of olfactory epithelium morphology | any structural anomaly of the flat or angular epithelial cell with condensed nuclei and darkly staining cytoplasm containing numerous intermediate filaments inserted into desmosomes contacting surrounding supporting cells, that lie in contact with the bas |
Mapped by homologous gene(Total Items:6) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0100543 | Cognitive impairment | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| HP:0100627 | Displacement of the external urethral meatus | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0100578 | Lipoatrophy | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001006 | Hypotrichosis | MP:0014082 | decreased small intestinal villus height | decreased height of the tiny hair-like projections which protrude from the inside of the small intestine and contain blood vessels that capture digested nutrients that are absorbed through the intestinal wall; usually accompanied by crypt elongation or hy |
| HP:0002566 | Intestinal malrotation | MP:0014155 | absent olfactory epithelium | absence of the epithelial cells that line the interior of the nose |
| HP:0004322 | Short stature | 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 |
| Disease ID | 197 |
|---|---|
| Disease | congenital short bowel syndrome |
| Case | (Waiting for update.) |