eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| microvillus inclusion disease | ||||
| Disease ID | 993 |
|---|---|
| Disease | microvillus inclusion disease |
| Definition | Microvillus inclusion disease is an extremely rare inherited intestinal disorder (enteropathy) that is typically apparent within hours or days after birth. The disorder is characterized by chronic, severe, watery diarrhea and insufficient absorption (malabsorption) of necessary nutrients due to incomplete development (hypoplasia) and/or degeneration (atrophy) of certain cells of the wall of the small intestine (e.g., hypoplastic villus atrophy, defective brush-border assembly and differentiation). In infants with microvillus inclusion disease, chronic diarrhea and malabsorption may result in severe dehydration, deficiency of necessary nutrients (malnutrition), a failure to grow and gain weight at the expected rate (failure to thrive), and/or disturbance of the body's balance of acids and bases, which is essential in regulating the body's composition of bodily fluids (acidosis). Microvillus inclusion disease is inherited as an autosomal recessive genetic trait. - NORD Reference: NORD |
| Synonym | congenital familial protracted diarrhea with enterocyte brush-border abnormalities congenital microvillous atrophy congenital microvillous atrophy (disorder) davidson disease diar2 diarrhea 2, with microvillus atrophy intractable diarrhea of infancy microvillus atrophy, congenital mvid |
| Orphanet | |
| OMIM | |
| UMLS | C0341306 |
| 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) 51010 | EXOSC3 | 3.579 | DISEASES 7430 | EZR | 2.432 | DISEASES 50943 | FOXP3 | 2.221 | DISEASES 2778 | GNAS | 1.149 | DISEASES 4311 | MME | 1.546 | DISEASES 4647 | MYO7A | 2.061 | DISEASES 84612 | PARD6B | 3.99 | DISEASES 5590 | PRKCZ | 2.318 | DISEASES 6499 | SKIV2L | 4.284 | DISEASES 1811 | SLC26A3 | 3.553 | DISEASES 6518 | SLC2A5 | 2.403 | DISEASES 6809 | STX3 | 5.598 | DISEASES 9652 | TTC37 | 3.771 | DISEASES |
| Locus | Symbol | Locus(Total Locus:2) |
| Disease ID | 993 |
|---|---|
| Disease | microvillus inclusion disease |
| Integrated Phenotype | (Waiting for update.) |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:8) HP:0004387 | Enterocolitis | 1 HP:0001942 | Metabolic acidosis | 1 HP:0002041 | Intractable diarrhea | 1 HP:0001396 | Cholestasis | 1 HP:0001999 | Facial dysmorphism | 1 HP:0002014 | Diarrhea | 1 HP:0001941 | acidemia | 1 HP:0000819 | Diabetes mellitus | 1 |
| Disease ID | 993 |
|---|---|
| Disease | microvillus inclusion disease |
| Manually Symptom | (Waiting for update.) |
| Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Manually Genotypes:1) | |||
|---|---|---|---|
| Gene | Mutation | DOI | Article Title |
| MYO5B | NM_001080467.2: c.3168_3169insCTC, p.(Met1056_Lys1057insLeu) | doi:10.1038/gim.2016.153 | A comprehensive strategy for exome-based preconception carrier screening |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:6) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs121908103 | NA | 4645 | MYO5B | umls:C0341306 | CLINVAR | NA | 0.482714419 | NA | MYO5B | 18 | 50036982 | A | G,C |
| rs121908104 | NA | 4645 | MYO5B | umls:C0341306 | CLINVAR | NA | 0.482714419 | NA | MYO5B | 18 | 49974547 | C | T |
| rs121908105 | NA | 4645 | MYO5B | umls:C0341306 | CLINVAR | NA | 0.482714419 | NA | MYO5B | 18 | 49936289 | G | T,C,A |
| rs121908106 | NA | 4645 | MYO5B | umls:C0341306 | CLINVAR | NA | 0.482714419 | NA | MYO5B | 18 | 49936276 | G | A |
| rs727505394 | NA | 4645 | MYO5B | umls:C0341306 | CLINVAR | NA | 0.482714419 | NA | MYO5B | 18 | 49936250 | A | T |
| rs727505395 | NA | 4645 | MYO5B | umls:C0341306 | CLINVAR | NA | 0.482714419 | NA | MYO5B | 18 | 49878940 | C | 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.) |
| Disease ID | 993 |
|---|---|
| Disease | microvillus inclusion disease |
| Case | (Waiting for update.) |