eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| abetalipoproteinemia | ||||
| Disease ID | 61 |
|---|---|
| Disease | abetalipoproteinemia |
| Definition | An autosomal recessive disorder of lipid metabolism. It is caused by mutation of the microsomal triglyceride transfer protein that catalyzes the transport of lipids (TRIGLYCERIDES; CHOLESTEROL ESTERS; PHOSPHOLIPIDS) and is required in the secretion of BETA-LIPOPROTEINS (low density lipoproteins or LDL). Features include defective intestinal lipid absorption, very low serum cholesterol level, and near absent LDL. |
| Synonym | abetalipoproteinaemia abetalipoproteinemia (disorder) abetalipoproteinemia (disorder) [ambiguous] abetalipoproteinemia [disease/finding] abl abl - abetalipoproteinaemia abl - abetalipoproteinemia acanthocytoses acanthocytosis bassen kornzweig dis bassen kornzweig disease bassen kornzweig syndrome bassen-kornzweig disease bassen-kornzweig syndrome betalipoprotein deficiency disease betalipoprotein deficiency diseases deficiency disease, betalipoprotein deficiency diseases, betalipoprotein disease, betalipoprotein deficiency diseases, betalipoprotein deficiency microsomal triglyceride transfer protein defic microsomal triglyceride transfer protein defic dis microsomal triglyceride transfer protein deficiency microsomal triglyceride transfer protein deficiency disease mtp deficiency |
| Orphanet | |
| OMIM | |
| DOID | |
| UMLS | C0000744 |
| MeSH | |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:5) C0042875 | vitamin e deficiency | 2 C0002871 | anemia | 1 C0002878 | hemolytic anemia | 1 C0007642 | cellulitis | 1 C0026848 | myopathy | 1 |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:5) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:38) 19 | ABCA1 | 2.042 | DISEASES 31 | ACACA | 1.023 | DISEASES 279 | AMY2A | 1.264 | DISEASES 27329 | ANGPTL3 | 5.087 | DISEASES 336 | APOA2 | 3.359 | DISEASES 337 | APOA4 | 1.528 | DISEASES 344 | APOC2 | 3.762 | DISEASES 54840 | APTX | 3.003 | DISEASES 85300 | ATCAY | 2.477 | DISEASES 910 | CD1B | 1.52 | DISEASES 978 | CDA | 1.049 | DISEASES 1056 | CEL | 1.627 | DISEASES 9557 | CHD1L | 1.468 | DISEASES 22796 | COG2 | 2.872 | DISEASES 55157 | DARS2 | 2.484 | DISEASES 8694 | DGAT1 | 1.165 | DISEASES 83658 | DYNLRB1 | 2.761 | DISEASES 2395 | FXN | 1.901 | DISEASES 338328 | GPIHBP1 | 2.972 | DISEASES 3141 | HLCS | 1.695 | DISEASES 10525 | HYOU1 | 1.693 | DISEASES 3792 | KEL | 1.752 | DISEASES 3949 | LDLR | 1.07 | DISEASES 26119 | LDLRAP1 | 2.419 | DISEASES 3988 | LIPA | 1.206 | DISEASES 4018 | LPA | 3.636 | DISEASES 50488 | MINK1 | 1.855 | DISEASES 10062 | NR1H3 | 1.368 | DISEASES 5034 | P4HB | 4.289 | DISEASES 54625 | PARP14 | 2.378 | DISEASES 53635 | PTOV1 | 2.008 | DISEASES 26278 | SACS | 2.854 | DISEASES 51128 | SAR1B | 5.22 | DISEASES 1811 | SLC26A3 | 1.056 | DISEASES 7003 | TEAD1 | 2.185 | DISEASES 94241 | TP53INP1 | 1.41 | DISEASES 7391 | USF1 | 1.72 | DISEASES 23230 | VPS13A | 2.512 | DISEASES |
| Locus | Symbol | Locus(Total Locus:1) MTTP | 4q23 |
| Disease ID | 61 |
|---|---|
| Disease | abetalipoproteinemia |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:7) HP:0001251 | Ataxia HP:0000505 | Visual impairment HP:0100022 | Abnormality of movement HP:0001252 | Muscular hypotonia HP:0001315 | Reduced tendon reflexes HP:0007703 | Abnormality of retinal pigmentation HP:0002024 | Malabsorption |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:10) HP:0100513 | Vitamin E deficiency | 2 HP:0002024 | Intestinal malabsorption | 1 HP:0001927 | Acanthocytosis | 1 HP:0100658 | Bacterial infection of skin | 1 HP:0002910 | Elevated transaminases | 1 HP:0003198 | Myopathic changes | 1 HP:0007373 | Motor neuron atrophy | 1 HP:0001903 | Anemia | 1 HP:0100022 | Movement disorder | 1 HP:0001878 | Haemolytic anaemia | 1 |
| Disease ID | 61 |
|---|---|
| Disease | abetalipoproteinemia |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:8) |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:1) |
Manually Genotype(Total Manually Genotypes:2) | |||
|---|---|---|---|
| Gene | Mutation | DOI | Article Title |
| MTTP | p.G865X | doi:10.1038/gim.2015.123 | Expanded genetic screening panel for the Ashkenazi Jewish population |
| MTTP | p.G865X*2 | doi:10.1038/gim.2015.123 | Expanded genetic screening panel for the Ashkenazi Jewish population |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:5) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs146064714 | NA | 4547 | MTTP | umls:C0000744 | CLINVAR | NA | 0.490867606 | NA | MTTP | 4 | 99622756 | G | T |
| rs199422219 | NA | 4547 | MTTP | umls:C0000744 | CLINVAR | NA | 0.490867606 | NA | MTTP | 4 | 99611156 | C | T |
| rs199422220 | NA | 4547 | MTTP | umls:C0000744 | CLINVAR | NA | 0.490867606 | NA | MTTP | 4 | 99608827 | G | A |
| rs199422221 | NA | 4547 | MTTP | umls:C0000744 | CLINVAR | NA | 0.490867606 | NA | MTTP | 4 | 99619094 | A | T |
| rs199422222 | NA | 4547 | MTTP | umls:C0000744 | CLINVAR | NA | 0.490867606 | NA | MTTP | 4 | 99608977 | G | T |
GWASdb Annotation(Total Genotypes:8) | |||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Chr | Pos | SNP_Id | RefGene | EnsemblGene | ENCODE_Factor | ENCODE_TFBS | Chromosome_interaction | GTEx_eQTL | SNP_TFBS_affinity_GWAS3D | SNP_miRNA_target_affinity_PolymiRTS | SNP_splicing_effect_Skippy | SNP_splicing_effect_MutPred_Splice | SNP_ns_protein_effect_dbNSFP | SNP_syn_effect_Silva | SNP_phosphorylation_effect_PhosSNP | PhastCons_score | PhyloP_score | GERP++_RS | Segway_state | Ancestral_allele | ESP_AF | ESP_AFR | ESP_AFR | ESP_EUR | TG_ASN | TG_AMR | TG_AFR | TG_EUR | Type | Consequence | bStatistic | EncH3K27Ac | EncH3K4Me1 | EncH3K4Me3 | EncNucleo | OMIM | Clinvar |
| 9 | 133725767 | rs6597642 | NM_007313,ABL1 | NM_005157,ABL1 | ENST00000438426,ENSG00000097007 | ENST00000372348,ENSG00000097007 | ENST00000393293,ENSG00000097007 | ENST00000318560,ENSG00000097007 | ENST00000444970,ENSG00000097007 | NA | NA | NA | NA | Phd1-FL-primary,10.8217 | Tec1-primary,1.5092 | LM100,5.2812 | LM115,12.9401 | LM129,1.3247 | NA | NA | NA | NA | NA | NA | 0.001 | 0.575 | 0.676 | GM0 | G | NA | NA | NA | 0.140 | 0.070 | 0.170 | 0.210 | 0.140 |
| 9 | 133731184 | rs1800609 | NM_007313,ABL1 | NM_005157,ABL1 | ENST00000438426,ENSG00000097007 | ENST00000372348,ENSG00000097007 | ENST00000318560,ENSG00000097007 | ENST00000444970,ENSG00000097007 | NA | NA | chr9,133730001,133740000,chr10,17930001,17940000,180,Hi-C | chr9,133730001,133740000,chr9,133820001,133830000,5,Hi-C | NA | Bas1-primary,1.4284 | Gat4-primary,1.5255 | Gat4-primary,1.454 | Meis1_2335,1.4989 | Mrg2_2302,1.274 | NA | NA | NA | NA | NA | NA | 0.580 | 0.452 | 1.4 | GS | T | NA | NA | NA | NA | NA | NA | NA | NA |
| 9 | 133734075 | rs3824400 | NM_007313,ABL1 | NM_005157,ABL1 | ENST00000438426,ENSG00000097007 | ENST00000372348,ENSG00000097007 | ENST00000318560,ENSG00000097007 | CHMM | NA | chr9,133730001,133740000,chr10,17930001,17940000,180,Hi-C | chr9,133730001,133740000,chr9,133820001,133830000,5,Hi-C | NA | LM78,3.5839 | LM85,17.3957 | LM172,1.3865 | Ddit3-Cebpa,1.9452 | Gata1,3.4943 | NA | NA | NA | NA | NA | NA | 0.943 | 0.653 | 2.16 | GM1 | T | NA | NA | NA | NA | NA | NA | NA | NA | RegulatoryFeature |
| 9 | 133745487 | rs6597645 | NM_007313,ABL1 | NM_005157,ABL1 | ENST00000438426,ENSG00000097007 | ENST00000372348,ENSG00000097007 | ENST00000318560,ENSG00000097007 | TFP.CTCF | TFP.SMC3 | TFP.RAD21 | MCV-68 | NA | chr9,133740001,133750000,chr5,175700001,175710000,27,Hi-C | chr9,133740001,133750000,chr9,133440001,133450000,5,Hi-C | NA | Aro80-primary,1.3833 | Bas1-primary,1.7509 | Cgd2_3490,1.4103 | Gcn4-DBD-primary,12.1849 | Gcn4-DBD-primary,12.7753 | NA | NA | NA | NA | NA | NA | 0.002 | 0.542 | 0.655 | C0 | A | NA | NA | NA | NA | NA | NA |
| 9 | 133746117 | rs3808816 | NM_007313,ABL1 | NM_005157,ABL1 | ENST00000438426,ENSG00000097007 | ENST00000372348,ENSG00000097007 | ENST00000318560,ENSG00000097007 | TFP.CTCF | TFP.SMC3 | TFP.PAX5 | CHMM | TFP.SP1 | NA | chr9,133740001,133750000,chr5,175700001,175710000,27,Hi-C | chr9,133740001,133750000,chr9,133440001,133450000,5,Hi-C | NA | LM42,17.5752 | LM125,3.7308 | LM163,4.3549 | LM198,3.2707 | NFYA,7.9062 | NA | NA | NA | NA | NA | NA | 0.000 | -0.620 | -3.37 | GS | C | NA | NA | NA | NA | NA |
| 9 | 133747734 | rs4740376 | NM_007313,ABL1 | NM_005157,ABL1 | ENST00000438426,ENSG00000097007 | ENST00000372348,ENSG00000097007 | ENST00000318560,ENSG00000097007 | NA | NA | chr9,133740001,133750000,chr5,175700001,175710000,27,Hi-C | chr9,133740001,133750000,chr9,133440001,133450000,5,Hi-C | NA | Aro80-primary,5.9521 | Asg1-DBD-primary,8.6498 | Ecm22-primary,1.6275 | Gal4-primary,4.7413 | Gal4-primary,4.7413 | NA | NA | NA | NA | NA | NA | 0.000 | -0.756 | -4.76 | GS | C | NA | NA | NA | NA | NA | NA | NA | NA | RegulatoryFeature |
| 9 | 133748083 | rs2070997 | NM_007313,ABL1 | NM_005157,ABL1 | ENST00000438426,ENSG00000097007 | ENST00000372348,ENSG00000097007 | ENST00000318560,ENSG00000097007 | NA | NA | chr9,133740001,133750000,chr5,175700001,175710000,27,Hi-C | chr9,133740001,133750000,chr9,133440001,133450000,5,Hi-C | NA | Aro80-primary,1.7886 | Asg1-DBD-primary,8.2927 | Asg1-DBD-primary,7.389 | Asg1-DBD-primary,2.8117 | Bas1-primary,1.8246 | NA | NA | NA | NA | NA | NA | 0.000 | -1.869 | -10.8 | GS | A | NA | NA | NA | NA | NA | NA | NA | NA | RegulatoryFeature |
| 9 | 133754220 | rs4740377 | NM_007313,ABL1 | NM_005157,ABL1 | ENST00000438426,ENSG00000097007 | ENST00000372348,ENSG00000097007 | ENST00000318560,ENSG00000097007 | NA | NA | chr9,133750001,133760000,chr9,133840001,133850000,27,Hi-C | chr9,133750001,133760000,chr21,29240001,29250000,40,Hi-C | chr9,133750001,133760000,chr9,96400001,96410000,6,Hi-C | chr9,133750001,133760000,chr9,33870001,33880000,10,Hi-C | NA | HSF1,1.5574 | NA | NA | NA | NA | NA | NA | 0.000 | -0.290 | -1.13 | C0 | C | NA | NA | NA | NA | NA | NA | NA | NA | Transcript | INTRONIC | 829 |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:3) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0100022 | Abnormality of movement | MP:0005223 | abnormal dorsal-ventral polarity of the somites | anomalous development or formation of the pattern of somites along the axis that runs from the front (ventral) to the back (dorsal) surface of the body |
| HP:0001252 | Muscular hypotonia | MP:0004144 | hypotonia | decreased muscle tension resulting in limpness of the muscles in the resting state, not to be confused with weakness |
| HP:0007703 | Abnormality of retinal pigmentation | MP:0011665 | d-loop transposition of the great arteries | complete transposition of the great arteries; the d- refers to the dextroposition of the bulboventricular loop (ie, the position of the right ventricle, which is on the right side); in addition, the aorta also tends to be on the right and anterior, and th |
Mapped by homologous gene(Total Items:7) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0001252 | Muscular hypotonia | 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:0100022 | Abnormality of movement | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| 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:0001251 | Ataxia | MP:0020301 | short tongue | decreased length of the mobile mass of muscular tissue and surrounding epithelial tissue occupying the cavity of the mouth and forming part of the floor |
| HP:0007703 | Abnormality of retinal pigmentation | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0002024 | Malabsorption | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0001315 | Reduced tendon reflexes | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| Disease ID | 61 |
|---|---|
| Disease | abetalipoproteinemia |
| Case | (Waiting for update.) |