eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| hypoalphalipoproteinemia | ||||
| Disease ID | 785 |
|---|---|
| Disease | hypoalphalipoproteinemia |
| Definition | Conditions with abnormally low levels of ALPHA-LIPOPROTEINS (high-density lipoproteins) in the blood. Hypoalphalipoproteinemia can be associated with mutations in genes encoding APOLIPOPROTEIN A-I; LECITHIN CHOLESTEROL ACYLTRANSFERASE; and ATP-BINDING CASSETTE TRANSPORTERS. |
| Synonym | alpha lipoproteinemia, hypo hdl cholesterol, low serum high density lipoid deficiency high density lipoid deficiency (disorder) high-density lipoid deficiency hypo alpha lipoproteinemia hypo alpha lipoproteinemias hypoalphalipoproteinaemia hypoalphalipoproteinemia (disorder) hypoalphalipoproteinemias hypoalphalipoproteinemias [disease/finding] lipoproteinemia, hypo alpha lipoproteinemias, hypo alpha |
| Orphanet | |
| OMIM | |
| UMLS | C0473527 |
| MeSH | |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:1) |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:2) |
| Inferring Gene | Entrez_id | Symbol | Resource(Total Genes:4) |
| Text Mined Gene | (Waiting for update.) |
| Locus | (Waiting for update.) |
| Disease ID | 785 |
|---|---|
| Disease | hypoalphalipoproteinemia |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:9) HP:0007957 | Corneal opacity HP:0001645 | Sudden cardiac death HP:0001658 | Myocardial infarction HP:0002326 | Transient ischemic attack HP:0003119 | Abnormality of lipid metabolism HP:0011675 | Arrhythmia HP:0001114 | Xanthelasma HP:0001681 | Angina pectoris HP:0002621 | Atherosclerosis |
| Text Mined Phenotype | (Waiting for update.) |
| Disease ID | 785 |
|---|---|
| Disease | hypoalphalipoproteinemia |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:1) C0856169 | endothelial dysfunction |
| 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:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
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:0003119 | Abnormality of lipid metabolism | MP:0009536 | abnormal interstitial cell of Cajal morphology | any structural anomaly in the type of cell found in the gastrointestinal tract and serving as a pacemaker that triggers gut contraction; ICCs mediate inputs from the enteric nervous system to smooth muscle cells and are thought to be the cells from which |
| HP:0007957 | Corneal opacity | MP:0009859 | eye opacity | changes in the eye grossly observed as a milky or cloudy appearance that may be progressive and persistent throughout life |
| HP:0001645 | Sudden cardiac death | MP:0012557 | decreased calcium uptake by cardiac muscle | decreased directed movement of calcium ions into cardiac muscle; decreased or disrupted uptake may give rise to energetic deficit and oxidative stress. leading to cardiac disease |
Mapped by homologous gene(Total Items:9) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0001658 | Myocardial infarction | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0002621 | Atherosclerosis | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0011675 | Arrhythmia | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0001114 | Xanthelasma | MP:0011231 | abnormal vitamin E level | any anomaly in the concentration of vitamin E, tocopherol, including a series of eight structurally similar compounds; alpha-tocopherol is the most active form in humans and is a powerful biological antioxidant |
| HP:0002326 | Transient ischemic attack | MP:0013696 | increased granulocyte monocyte progenitor cell number | increase in the number of a hematopoietic progenitor cell that is committed to the granulocyte and monocyte lineages; these cells are CD123-positive, and do not express Gata1 or Gata2 but do express C/EBPa, and Pu.1 |
| HP:0007957 | Corneal opacity | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0001645 | Sudden cardiac death | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0003119 | Abnormality of lipid metabolism | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001681 | Angina pectoris | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| Disease ID | 785 |
|---|---|
| Disease | hypoalphalipoproteinemia |
| Case | (Waiting for update.) |