eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| hyperlipoproteinemia type iv | ||||
| Disease ID | 864 |
|---|---|
| Disease | hyperlipoproteinemia type iv |
| Definition | A hypertriglyceridemia disorder, often with autosomal dominant inheritance. It is characterized by the persistent elevations of plasma TRIGLYCERIDES, endogenously synthesized and contained predominantly in VERY-LOW-DENSITY LIPOPROTEINS (pre-beta lipoproteins). In contrast, the plasma CHOLESTEROL and PHOSPHOLIPIDS usually remain within normal limits. |
| Synonym | carbohydrate inducible hyperlipemia carbohydrate inducible hyperlipemias carbohydrate-inducible hyperlipemia carbohydrate-inducible hyperlipemias endogenous hyperglyceridemia endogenous hyperlipaemia endogenous hyperlipemia endogenous hyperlipidaemia endogenous hyperlipidemia endogenous hyperlipidemia (disorder) familial hyperlipoproteinemia type 4 familial hyperlipoproteinemia type iv familial hyperprebetalipoproteinemia familial hypertriglyceridaemia familial hypertriglyceridemia familial hypertriglyceridemia (disorder) familial type iv hyperlipoproteinemia fredrickson type iv hyperlipoproteinaemia fredrickson type iv hyperlipoproteinemia fredrickson type iv hyperlipoproteinemia (disorder) fredrickson type iv lipidaemia fredrickson type iv lipidemia hyper prebeta lipoproteinemia hyperlipemia, carbohydrate inducible hyperlipemia, carbohydrate-inducible hyperlipemias, carbohydrate inducible hyperlipemias, carbohydrate-inducible hyperlipidemia type iv hyperlipidemia, group b hyperlipoproteinemia type 04 hyperlipoproteinemia type iv [disease/finding] hyperlipoproteinemia, type iv hyperlipoproteinemias, type iv hyperprebetalipoproteinemia hypertriglyceridemia, essential hypertriglyceridemia, familial inducible hyperlipemia, carbohydrate inducible hyperlipemias, carbohydrate pure hyperglyceridaemia pure hyperglyceridaemia (disorder) pure hyperglyceridemia pure hyperglyceridemia (disorder) type iv hyperlipidemia type iv hyperlipoproteinemia type iv hyperlipoproteinemias type iv, hyperlipoproteinemia very-low-density-lipoid-type hyperlipoproteinemia vldl hyperlipoproteinemia |
| Orphanet | |
| OMIM | |
| DOID | |
| ICD10 | |
| UMLS | C0020480 |
| MeSH | |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:5) C0011849 | diabetes mellitus | 1 C0004153 | atherosclerosis | 1 C0011847 | diabetes | 1 C0030305 | pancreatitis | 1 C0001339 | acute pancreatitis | 1 |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:3) |
| Inferring Gene | Entrez_id | Symbol | Resource(Total Genes:6) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:10) 336 | APOA2 | 3.543 | DISEASES 344 | APOC2 | 3.089 | DISEASES 23607 | CD2AP | 1.314 | DISEASES 22796 | COG2 | 1.472 | DISEASES 8518 | IKBKAP | 3.902 | DISEASES 3949 | LDLR | 1.413 | DISEASES 149998 | LIPI | 1.764 | DISEASES 4018 | LPA | 3.105 | DISEASES 4686 | NCBP1 | 1.428 | DISEASES 7391 | USF1 | 4.624 | DISEASES |
| Locus | (Waiting for update.) |
| Disease ID | 864 |
|---|---|
| Disease | hyperlipoproteinemia type iv |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:5) HP:0002155 | Increased triglycerides HP:0004416 | Precocious atherosclerosis HP:0003362 | Increased circulating very-low-density lipoprotein cholesterol HP:0001952 | Abnormal glucose tolerance HP:0001039 | Atheroeruptive xanthoma |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:4) |
| Disease ID | 864 |
|---|---|
| Disease | hyperlipoproteinemia type iv |
| Manually Symptom | (Waiting for update.) |
| 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:1) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs11909217 | 12719377 | 149998 | LIPI | umls:C0020480 | UNIPROT | Identification of a novel lipase gene mutated in lpd mice with hypertriglyceridemia and associated with dyslipidemia in humans. | 0.36 | 2003 | LIPI | 21 | 14189302 | C | T |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:14) | |||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| CHR | POS | SNPID | REF | ALT | ORI_SNPID | PMID | P_VALUE | P_VALUE_TEXT | OR/BETA | CI95_TEXT | GWAS_INITIAL_SAMPLE_SIZE | SUB_POPULATION | SUPER_POPULATION | GWAS_TRAIT | HPO_ID | HPO_TERM | DO_ID | DO_TERM | MESH_ID | MESH_TERM | EFO_ID | EFO_TERM | DOLITE_TERM | RISK_ALLELE | PUBLICATION_TYPE | AA | GENE_SYMBOL | TYPE | REFGENE |
| 2 | 21389659 | rs4635554 | T | G | rs4635554 | 20657596 | 2.00E-07 | NA | 1.67 | [1.38-2.02] | 463 European ancestry cases; 1,197 European ancestry controls | European(1660) | ALL(1660) | EUR(1660) | ALL(1660) | Hypertriglyceridemia | HPOID:0002155 | Hypertriglyceridemia | DOID:0050527 | familial hypertriglyceridemia | D015228 | Hypertriglyceridemia | EFOID:0004530 | hypertriglyceridemia | Metabolism disease | rs4635554-G | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | T |
| 2 | 27730940 | rs1260326 | T | C | rs1260326 | 20657596 | 7.00E-09 | NA | 1.75 | [1.45-2.12] | 463 European ancestry cases; 1,197 European ancestry controls | European(1660) | ALL(1660) | EUR(1660) | ALL(1660) | Hypertriglyceridemia | HPOID:0002155 | Hypertriglyceridemia | DOID:0050527 | familial hypertriglyceridemia | D015228 | Hypertriglyceridemia | EFOID:0004530 | hypertriglyceridemia | Metabolism disease | rs1260326-T | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 2 | 27730940 | rs1260326 | T | C | rs1260326 | 23505323 | 2.00E-13 | Hypertriglyceridemia | NA | NA | 1122 Mexican cases; 1118 Mexican controls | Mexican(2240) | ALL(2240) | HIS(2240) | ALL(2240) | Hypertriglyceridemia | HPOID:0002155 | Hypertriglyceridemia | DOID:0050527 | familial hypertriglyceridemia | D015228 | Hypertriglyceridemia | EFOID:0004530 | hypertriglyceridemia | Metabolism disease | NA | Research Support, N.I.H., Extramural | C | GCKR |
| 5 | 156464242 | rs2036402 | T | C | rs2036402 | 23505323 | 3.00E-06 | Hypertriglyceridemia | NA | NA | 1122 Mexican cases; 1118 Mexican controls | Mexican(2240) | ALL(2240) | HIS(2240) | ALL(2240) | Hypertriglyceridemia | HPOID:0002155 | Hypertriglyceridemia | DOID:0050527 | familial hypertriglyceridemia | D015228 | Hypertriglyceridemia | EFOID:0004530 | hypertriglyceridemia | Metabolism disease | NA | Research Support, N.I.H., Extramural | A | HAVCR1 |
| 7 | 72864869 | rs714052 | A | G | rs714052 | 20657596 | 3.00E-06 | NA | 2.27 | [1.61-3.23] | 463 European ancestry cases; 1,197 European ancestry controls | European(1660) | ALL(1660) | EUR(1660) | ALL(1660) | Hypertriglyceridemia | HPOID:0002155 | Hypertriglyceridemia | DOID:0050527 | familial hypertriglyceridemia | D015228 | Hypertriglyceridemia | EFOID:0004530 | hypertriglyceridemia | Metabolism disease | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | T |
| 7 | 72987354 | rs2286276 | C | T | rs2286276 | 23505323 | 2.00E-06 | Hypertriglyceridemia | NA | NA | 1122 Mexican cases; 1118 Mexican controls | Mexican(2240) | ALL(2240) | HIS(2240) | ALL(2240) | Hypertriglyceridemia | HPOID:0002155 | Hypertriglyceridemia | DOID:0050527 | familial hypertriglyceridemia | D015228 | Hypertriglyceridemia | EFOID:0004530 | hypertriglyceridemia | Metabolism disease | NA | Research Support, N.I.H., Extramural | A | TBL2 |
| 8 | 19876746 | rs7016880 | G | C | rs7016880 | 20657596 | 2.00E-07 | NA | 3.13 | [2.04-4.76] | 463 European ancestry cases; 1,197 European ancestry controls | European(1660) | ALL(1660) | EUR(1660) | ALL(1660) | Hypertriglyceridemia | HPOID:0002155 | Hypertriglyceridemia | DOID:0050527 | familial hypertriglyceridemia | D015228 | Hypertriglyceridemia | EFOID:0004530 | hypertriglyceridemia | Metabolism disease | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
| 8 | 19928582 | rs9644568 | G | A | rs9644568 | 23505323 | 4.00E-11 | Hypertriglyceridemia | NA | NA | 1122 Mexican cases; 1118 Mexican controls | Mexican(2240) | ALL(2240) | HIS(2240) | ALL(2240) | Hypertriglyceridemia | HPOID:0002155 | Hypertriglyceridemia | DOID:0050527 | familial hypertriglyceridemia | D015228 | Hypertriglyceridemia | EFOID:0004530 | hypertriglyceridemia | Metabolism disease | NA | Research Support, N.I.H., Extramural | G | NA |
| 8 | 22088432 | rs12541335 | A | G | rs12541335 | 23505323 | 7.00E-06 | Hypertriglyceridemia | NA | NA | 1122 Mexican cases; 1118 Mexican controls | Mexican(2240) | ALL(2240) | HIS(2240) | ALL(2240) | Hypertriglyceridemia | HPOID:0002155 | Hypertriglyceridemia | DOID:0050527 | familial hypertriglyceridemia | D015228 | Hypertriglyceridemia | EFOID:0004530 | hypertriglyceridemia | Metabolism disease | NA | Research Support, N.I.H., Extramural | G | PHYHIP |
| 11 | 115943253 | rs1426391 | A | C | rs1426391 | 23505323 | 7.00E-06 | Hypertriglyceridemia | NA | NA | 1122 Mexican cases; 1118 Mexican controls | Mexican(2240) | ALL(2240) | HIS(2240) | ALL(2240) | Hypertriglyceridemia | HPOID:0002155 | Hypertriglyceridemia | DOID:0050527 | familial hypertriglyceridemia | D015228 | Hypertriglyceridemia | EFOID:0004530 | hypertriglyceridemia | Metabolism disease | NA | Research Support, N.I.H., Extramural | A | NA |
| 11 | 116648917 | rs964184 | G | C | rs964184 | 20657596 | 5.00E-24 | NA | 3.28 | [2.61-4.14] | 463 European ancestry cases; 1,197 European ancestry controls | European(1660) | ALL(1660) | EUR(1660) | ALL(1660) | Hypertriglyceridemia | HPOID:0002155 | Hypertriglyceridemia | DOID:0050527 | familial hypertriglyceridemia | D015228 | Hypertriglyceridemia | EFOID:0004530 | hypertriglyceridemia | Metabolism disease | rs964184-G | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 11 | 116648917 | rs964184 | G | C | rs964184 | 23505323 | 5.00E-35 | Hypertriglyceridemia | NA | NA | 1122 Mexican cases; 1118 Mexican controls | Mexican(2240) | ALL(2240) | HIS(2240) | ALL(2240) | Hypertriglyceridemia | HPOID:0002155 | Hypertriglyceridemia | DOID:0050527 | familial hypertriglyceridemia | D015228 | Hypertriglyceridemia | EFOID:0004530 | hypertriglyceridemia | Metabolism disease | NA | Research Support, N.I.H., Extramural | C | NA |
| 15 | 31215935 | rs7178375 | C | T | rs7178375 | 23505323 | 6.00E-06 | Hypertriglyceridemia | NA | NA | 1122 Mexican cases; 1118 Mexican controls | Mexican(2240) | ALL(2240) | HIS(2240) | ALL(2240) | Hypertriglyceridemia | HPOID:0002155 | Hypertriglyceridemia | DOID:0050527 | familial hypertriglyceridemia | D015228 | Hypertriglyceridemia | EFOID:0004530 | hypertriglyceridemia | Metabolism disease | NA | Research Support, N.I.H., Extramural | C | FAN1 |
| 18 | 20879217 | rs9949617 | C | T | rs9949617 | 23505323 | 2.00E-08 | Hypertriglyceridemia | NA | NA | 1122 Mexican cases; 1118 Mexican controls | Mexican(2240) | ALL(2240) | HIS(2240) | ALL(2240) | Hypertriglyceridemia | HPOID:0002155 | Hypertriglyceridemia | DOID:0050527 | familial hypertriglyceridemia | D015228 | Hypertriglyceridemia | EFOID:0004530 | hypertriglyceridemia | Metabolism disease | NA | Research Support, N.I.H., Extramural | T | TMEM241 |
Mapped by lexical matching(Total Items:2) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0003362 | Increased circulating very-low-density lipoprotein cholesterol | MP:0010027 | increased liver cholesterol level | greater than normal amount in the liver of the principal sterol of vertebrates and the precursor of many steroids, including bile acids and steroid hormones; it is a component of the plasma membrane lipid bilayer and of plasma lipoproteins and can be foun |
| HP:0001952 | Abnormal glucose tolerance | MP:0005560 | decreased circulating glucose level | less than the normal concentration in the blood of this major monosaccharide of the body; it is an important energy source |
Mapped by homologous gene(Total Items:5) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0004416 | Precocious atherosclerosis | 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:0001039 | Atheroeruptive xanthoma | MP:0011100 | preweaning lethality, complete penetrance | death of all organisms of a given genotype in a population between fertilization and weaning age (Mus: approximately 3-4 weeks of age) |
| HP:0003362 | Increased circulating very-low-density lipoprotein cholesterol | MP:0020215 | impaired blood coagulation | impaired ability of the blood to clot |
| HP:0001952 | Abnormal glucose tolerance | MP:0014169 | decreased brown adipose tissue mass | decreased physical bulk or volume of brown adipose tissue |
| Disease ID | 864 |
|---|---|
| Disease | hyperlipoproteinemia type iv |
| Case | (Waiting for update.) |