eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| chylomicron retention disease | ||||
| Disease ID | 527 |
|---|---|
| Disease | chylomicron retention disease |
| Definition | An autosomal recessive disorder of severe fat malabsorption associated with failure to thrive in infancy. |
| Synonym | andd anderson disease anderson syndrome anderson's disease andersons disease andersons syndrome chylomicron retention disease (disorder) cmrd disease anderson hypobetalipoproteinemia with accumulation of apolipoprotein b-like protein in intestinal cells lipid transport defect of intestine |
| Orphanet | |
| OMIM | |
| DOID | |
| UMLS | C0795956 |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:1) |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:9) |
| Locus | Symbol | Locus(Total Locus:1) SAR1B | 5q31.1 |
| Disease ID | 527 |
|---|---|
| Disease | chylomicron retention disease |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:20) HP:0002910 | Elevated hepatic transaminases HP:0002570 | Steatorrhea HP:0003270 | Abdominal distention HP:0006565 | Increased hepatocellular lipid droplets HP:0002013 | Vomiting HP:0100508 | Abnormality of vitamin metabolism HP:0000505 | Visual impairment HP:0001927 | Acanthocytosis HP:0000488 | Retinopathy HP:0002014 | Diarrhea HP:0001284 | Areflexia HP:0010831 | Impaired proprioception HP:0002630 | Fat malabsorption HP:0001508 | Failure to thrive HP:0001397 | Hepatic steatosis HP:0003458 | EMG: myopathic abnormalities HP:0003146 | Hypocholesterolemia HP:0003198 | Myopathy HP:0002155 | Hypertriglyceridemia HP:0001510 | Growth delay |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:2) |
| Disease ID | 527 |
|---|---|
| Disease | chylomicron retention disease |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:1) C0042875 | vitamin e deficiency |
| 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:7) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs121917846 | NA | 51128 | SAR1B | umls:C0795956 | CLINVAR | NA | 0.483257302 | NA | SAR1B | 5 | 134621002 | C | T |
| rs137853125 | NA | 51128 | SAR1B | umls:C0795956 | CLINVAR | NA | 0.483257302 | NA | SAR1B | 5 | 134608488 | C | A |
| rs137853126 | NA | 51128 | SAR1B | umls:C0795956 | CLINVAR | NA | 0.483257302 | NA | SAR1B | 5 | 134606993 | C | A |
| rs28942109 | 12692552 | 51128 | SAR1B | umls:C0795956 | UNIPROT | Mutations in a Sar1 GTPase of COPII vesicles are associated with lipid absorption disorders. | 0.483257302 | 2003 | SAR1B | 5 | 134608443 | C | T |
| rs28942109 | NA | 51128 | SAR1B | umls:C0795956 | CLINVAR | NA | 0.483257302 | NA | SAR1B | 5 | 134608443 | C | T |
| rs28942110 | 12692552 | 51128 | SAR1B | umls:C0795956 | UNIPROT | Mutations in a Sar1 GTPase of COPII vesicles are associated with lipid absorption disorders. | 0.483257302 | 2003 | SAR1B | 5 | 134607010 | A | T |
| rs28942110 | NA | 51128 | SAR1B | umls:C0795956 | CLINVAR | NA | 0.483257302 | NA | SAR1B | 5 | 134607010 | 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:2) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0002910 | Elevated hepatic transaminases | MP:0002628 | hepatic steatosis | an accumulation of fat deposits in the liver |
| HP:0001508 | Failure to thrive | MP:0013294 | prenatal lethality prior to heart atrial septation | death prior to the completion of heart atrial septation (Mus: E14.5-15.5) |
Mapped by homologous gene(Total Items:19) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0000488 | Retinopathy | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001397 | Hepatic steatosis | MP:0020234 | decreased basal metabolism | decrease in heat production of an organism at the lowest level of cell chemistry in an inactive, awake, and fasting state |
| HP:0002910 | Elevated hepatic transaminases | MP:0020234 | decreased basal metabolism | decrease in heat production of an organism at the lowest level of cell chemistry in an inactive, awake, and fasting state |
| HP:0010831 | Impaired proprioception | MP:0013504 | increased embryonic tissue cell apoptosis | increase in the timing or the number of cells in embryonic tissue undergoing programmed cell death |
| HP:0003198 | Myopathy | MP:0020280 | increased creatine kinase level | increased level of the enzyme that catalyzes the reversible transfer of creatine to phosphocreatine |
| HP:0001508 | Failure to thrive | MP:0020234 | decreased basal metabolism | decrease in heat production of an organism at the lowest level of cell chemistry in an inactive, awake, and fasting state |
| HP:0002013 | Vomiting | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| HP:0003270 | Abdominal distention | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0003146 | Hypocholesterolemia | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001510 | Growth delay | MP:0020169 | increased thyroid gland weight | higher than average weight of the thyroid gland |
| HP:0001284 | Areflexia | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0002570 | Steatorrhea | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001927 | Acanthocytosis | MP:0020039 | increased bone ossification | increase in the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance |
| HP:0000505 | Visual impairment | 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:0003458 | EMG: myopathic abnormalities | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0002155 | Hypertriglyceridemia | MP:0020234 | decreased basal metabolism | decrease in heat production of an organism at the lowest level of cell chemistry in an inactive, awake, and fasting state |
| HP:0002014 | Diarrhea | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0002630 | Fat malabsorption | MP:0013504 | increased embryonic tissue cell apoptosis | increase in the timing or the number of cells in embryonic tissue undergoing programmed cell death |
| HP:0006565 | Increased hepatocellular lipid droplets | MP:0013405 | increased circulating lactate level | greater amount of lactate in the blood which is produced from pyruvate by lactate dehydrogenase |
| Disease ID | 527 |
|---|---|
| Disease | chylomicron retention disease |
| Case | (Waiting for update.) |