PedAM
Pediatric Disease Annotations & Medicines
| chylomicron retention disease | ||||
| Disease ID | 512 |
|---|---|
| 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 | |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:30) 1071 | CETP | DISEASES 2717 | GLA | DISEASES 116519 | APOA5 | DISEASES 338 | APOB | DISEASES 64240 | ABCG5 | DISEASES 400 | ARL1 | DISEASES 949 | SCARB1 | DISEASES 64788 | LMF1 | DISEASES 8452 | CUL3 | DISEASES 64083 | GOLPH3 | DISEASES 4547 | MTTP | DISEASES 4645 | MYO5B | DISEASES 29881 | NPC1L1 | DISEASES 4760 | NEUROD1 | DISEASES 2168 | FABP1 | DISEASES 10999 | SLC27A4 | DISEASES 51129 | ANGPTL4 | DISEASES 255738 | PCSK9 | DISEASES 5068 | REG3A | DISEASES 10484 | SEC23A | DISEASES 5306 | PITPNA | DISEASES 10139 | ARFRP1 | DISEASES 338328 | GPIHBP1 | DISEASES 59349 | KLHL12 | DISEASES 27329 | ANGPTL3 | DISEASES 56681 | SAR1A | DISEASES 26119 | LDLRAP1 | DISEASES 19 | ABCA1 | DISEASES 51128 | SAR1B | DISEASES 2632 | GBE1 | DISEASES |
| Locus | Symbol | Locus(Total Locus:1) SAR1B | 5q31.1 |
| Disease ID | 512 |
|---|---|
| Disease | chylomicron retention disease |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:20) HP:0002013 | Vomiting HP:0002910 | Elevated hepatic transaminases HP:0003270 | Abdominal distention HP:0000505 | Visual impairment HP:0001510 | Growth delay HP:0002155 | Hypertriglyceridemia HP:0001397 | Hepatic steatosis HP:0001284 | Areflexia HP:0003458 | EMG: myopathic abnormalities HP:0001927 | Acanthocytosis HP:0002630 | Fat malabsorption HP:0003198 | Myopathy HP:0002014 | Diarrhea HP:0001508 | Failure to thrive HP:0010831 | Impaired proprioception HP:0003146 | Hypocholesterolemia HP:0002570 | Steatorrhea HP:0100508 | Abnormality of vitamin metabolism HP:0006565 | Increased hepatocellular lipid droplets HP:0000488 | Retinopathy |
| Text Mined Phenotype | (Waiting for update.) |
| Disease ID | 512 |
|---|---|
| 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.) |
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:0) |
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| (Waiting for update.) |
Mapped by homologous gene(Total Items:0) |
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| (Waiting for update.) |
Chemical(Total Drugs:0) | |
|---|---|
| (Waiting for update.) | |
FDA approved drug and dosage information(Total Drugs:0) | |
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| (Waiting for update.) | |
FDA labeling changes(Total Drugs:0) | |
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| (Waiting for update.) | |