eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| hepatic veno-occlusive disease | ||||
| Disease ID | 533 |
|---|---|
| Disease | hepatic veno-occlusive disease |
| Definition | Liver disease that is caused by injuries to the ENDOTHELIAL CELLS of the vessels and subendothelial EDEMA, but not by THROMBOSIS. Extracellular matrix, rich in FIBRONECTINS, is usually deposited around the HEPATIC VEINS leading to venous outflow occlusion and sinusoidal obstruction. |
| Synonym | disease liver veno-occlusive disease, hepatic veno-occlusive hepatic veno occlusive dis hepatic veno occlusive disease hepatic veno-occlusive disease (disorder) hepatic veno-occlusive disease [disease/finding] hepatic veno-occlusive diseases hvod liver veno-occlusive disease sinusoidal obstruction syndrome syndrome, sinusoidal obstruction veno occlusive dis hepatic veno occlusive disease, hepatic veno-occlusive disease hepatic veno-occlusive disease of the liver veno-occlusive disease of the liver (disorder) veno-occlusive disease, hepatic venoocclusive liver disease |
| Orphanet | |
| ICD10 | |
| UMLS | C0019156 |
| MeSH | |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:6) C0020541 | portal hypertension | 1 C0494165 | hepatic metastases | 1 C0494165 | liver metastases | 1 C0009402 | colorectal cancer | 1 C0007113 | rectal cancer | 1 C0020538 | hypertension | 1 |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:2) |
| Inferring Gene | Entrez_id | Symbol | Resource(Total Genes:6) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:51) 55 | ACPP | 1.37 | DISEASES 11093 | ADAMTS13 | 2.152 | DISEASES 279 | AMY2A | 1.196 | DISEASES 196527 | ANO6 | 1.315 | DISEASES 25820 | ARIH1 | 2.099 | DISEASES 537 | ATP6AP1 | 2.286 | DISEASES 23545 | ATP6V0A2 | 1.416 | DISEASES 545 | ATR | 1.695 | DISEASES 567 | B2M | 1.187 | DISEASES 1378 | CR1 | 3.506 | DISEASES 1380 | CR2 | 1.258 | DISEASES 4283 | CXCL9 | 1.075 | DISEASES 1555 | CYP2B6 | 1.302 | DISEASES 10938 | EHD1 | 1.112 | DISEASES 2152 | F3 | 3.409 | DISEASES 2155 | F7 | 3.224 | DISEASES 55120 | FANCL | 1.162 | DISEASES 2224 | FDPS | 1.003 | DISEASES 53827 | FXYD5 | 2.198 | DISEASES 11146 | GLMN | 2.134 | DISEASES 2801 | GOLGA2 | 2.007 | DISEASES 2938 | GSTA1 | 4.057 | DISEASES 2950 | GSTP1 | 1.761 | DISEASES 3030 | HADHA | 1.472 | DISEASES 3043 | HBB | 2.772 | DISEASES 3106 | HLA-B | 1.17 | DISEASES 3109 | HLA-DMB | 2.314 | DISEASES 8091 | HMGA2 | 2.777 | DISEASES 133396 | IL31RA | 1.928 | DISEASES 3704 | ITPA | 1.064 | DISEASES 9682 | KDM4A | 1.174 | DISEASES 348801 | LNP1 | 2.403 | DISEASES 196410 | METTL7B | 2.161 | DISEASES 10724 | MGEA5 | 1.016 | DISEASES 55742 | PARVA | 1.869 | DISEASES 8654 | PDE5A | 1.073 | DISEASES 5455 | POU3F3 | 1.74 | DISEASES 462 | SERPINC1 | 4.155 | DISEASES 5345 | SERPINF2 | 2.485 | DISEASES 83650 | SLC35G5 | 1.076 | DISEASES 63826 | SRR | 1.137 | DISEASES 6818 | SULT1A3 | 2.181 | DISEASES 445329 | SULT1A4 | 2.206 | DISEASES 54790 | TET2 | 2.223 | DISEASES 7056 | THBD | 3.347 | DISEASES 117145 | THEM4 | 1.517 | DISEASES 7124 | TNF | 1.791 | DISEASES 8794 | TNFRSF10C | 1.153 | DISEASES 11169 | WDHD1 | 1.859 | DISEASES 644150 | WIPF3 | 2.636 | DISEASES 7490 | WT1 | 1.037 | DISEASES |
| Locus | (Waiting for update.) |
| Disease ID | 533 |
|---|---|
| Disease | hepatic veno-occlusive disease |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:12) HP:0002910 | Elevated hepatic transaminases HP:0003645 | Prolonged partial thromboplastin time HP:0001928 | Abnormality of coagulation HP:0002878 | Respiratory failure HP:0004324 | Increased body weight HP:0002480 | Hepatic encephalopathy HP:0002027 | Abdominal pain HP:0002240 | Hepatomegaly HP:0003573 | Increased total bilirubin HP:0001541 | Ascites HP:0000952 | Jaundice HP:0000083 | Renal insufficiency |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:5) HP:0002721 | Immunodeficiency | 2 HP:0001399 | Liver failure | 1 HP:0000822 | Hypertension | 1 HP:0001409 | Portal hypertension | 1 HP:0002240 | Enlarged liver | 1 |
| Disease ID | 533 |
|---|---|
| Disease | hepatic veno-occlusive disease |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:1) C0580174 | portal hypertensive gastropathy |
| 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 |
| rs1800562 | 15834437 | 3077 | HFE | umls:C0019156 | BeFree | We conclude that HFE C282Y is a risk factor for HVOD and that CPS polymorphisms may counteract its adverse effects. | 0.002638474 | 2005 | HFE | 6 | 26092913 | G | A |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:7) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0003645 | Prolonged partial thromboplastin time | MP:0012359 | increased partial thromboplastin time | increased amount of time it takes blood to clot after the addition of phospholipid, calcium, and an activator, e.g., silica, kaolin; measure of the quality of the intrinsic and common coagulation pathways |
| HP:0002910 | Elevated hepatic transaminases | MP:0002628 | hepatic steatosis | an accumulation of fat deposits in the liver |
| HP:0003573 | Increased total bilirubin | MP:0005344 | increased circulating bilirubin level | increased concentration in the blood of the bile pigment bilirubin, normally found in the liver and in red blood cells |
| HP:0000083 | Renal insufficiency | MP:0003335 | exocrine pancreatic insufficiency | inadequate synthesis and/or secretion of digestive enzymes by the exocrine portion of the pancreas, usually due to loss of acinar tissue from idiopathic atrophy or acute or chronic inflammation, causing maldigestion and malabsorption of nutrients |
| HP:0004324 | Increased body weight | MP:0001262 | decreased body weight | lower than normal average weight |
| HP:0002878 | Respiratory failure | MP:0012129 | failure of blastocyst formation | inability to form a blastocyst from a solid ball of cells known as a morula |
| HP:0001928 | Abnormality of coagulation | MP:0013283 | failure of ventral body wall closure | failure of the lateral body wall folds (a combination of mesoderm and ectoderm arising on each side of the embryo) to progress ventrally and meet in the midline and/or fuse to close the ventral body wall; normally, this closure is aided by growth of the h |
Mapped by homologous gene(Total Items:12) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0002878 | Respiratory failure | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0003573 | Increased total bilirubin | MP:0020215 | impaired blood coagulation | impaired ability of the blood to clot |
| 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:0002027 | Abdominal pain | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0000083 | Renal insufficiency | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| HP:0002480 | Hepatic encephalopathy | MP:0013716 | hypolactation | partial failure, or reduced ability to produce or secrete milk from the mammary gland |
| HP:0004324 | Increased body weight | MP:0012498 | abnormal cardiogenic plate morphology | any structural anomaly of the splanchnic mesodermal thickening which forms cranial and lateral to the developing neural plate; angiogenic cell clusters (aka angioblastic cords) located in a horse-shoe shape configuration in the cardiogenic plate coalesce |
| HP:0001928 | Abnormality of coagulation | 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:0001541 | Ascites | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0002240 | Hepatomegaly | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0003645 | Prolonged partial thromboplastin time | MP:0020215 | impaired blood coagulation | impaired ability of the blood to clot |
| HP:0000952 | Jaundice | MP:0020215 | impaired blood coagulation | impaired ability of the blood to clot |
| Disease ID | 533 |
|---|---|
| Disease | hepatic veno-occlusive disease |
| Case | (Waiting for update.) |