eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| cholesteryl ester storage disease | ||||
| Disease ID | 163 |
|---|---|
| Disease | cholesteryl ester storage disease |
| Definition | An autosomal recessive disorder caused by mutations in the gene for acid lipase (STEROL ESTERASE). It is characterized by the accumulation of neutral lipids, particularly CHOLESTEROL ESTERS in leukocytes, fibroblasts, and hepatocytes. |
| Synonym | cesd - cholesterol ester storage disease cholesterol ester storage dis cholesterol ester storage disease cholesterol ester storage disease (disorder) cholesterol ester storage disease [disease/finding] cholesteryl ester storage dis |
| Orphanet | |
| OMIM | |
| DOID | |
| UMLS | C0008384 |
| MeSH | |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:2) |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Inferring Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:9) |
| Locus | Symbol | Locus(Total Locus:1) LIPA | 10q23.31 |
| Disease ID | 163 |
|---|---|
| Disease | cholesteryl ester storage disease |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:13) HP:0001744 | Splenomegaly HP:0010512 | Adrenal calcification HP:0001394 | Cirrhosis HP:0001399 | Hepatic failure HP:0002014 | Diarrhea HP:0002634 | Arteriosclerosis HP:0002017 | Nausea and vomiting HP:0000989 | Pruritus HP:0003124 | Hypercholesterolemia HP:0002155 | Hypertriglyceridemia HP:0000952 | Jaundice HP:0002240 | Hepatomegaly HP:0002040 | Esophageal varix |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:1) |
| Disease ID | 163 |
|---|---|
| Disease | cholesteryl ester storage disease |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:3) |
| 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:2) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0001399 | Hepatic failure | MP:0006138 | congestive heart failure | cardiac output is insufficient to supply blood throughout the body, resulting in the accumulation of fluid in the lungs and other body tissues; it is related mainly to salt and water retention in the tissues rather than directly to reduced blood flow; blo |
| HP:0002017 | Nausea and vomiting | MP:0010426 | abnormal heart and great artery attachment | any anomaly in the in the position or pattern of the connection site of the heart to any of the great arteries, including the pulmonary artery and aorta |
Mapped by homologous gene(Total Items:13) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0001394 | Cirrhosis | MP:0020134 | abnormal gallbladder size | an anomaly in the size of the gall bladder compared to average, the organ that serves as a storage reservoir for bile |
| HP:0002634 | Arteriosclerosis | MP:0011704 | decreased fibroblast proliferation | reduction in the expansion rate of a fibroblast cell population by cell division |
| HP:0002040 | Esophageal varix | MP:0014074 | increased brain glycogen level | greater than the normal concentration of a readily converted carbohydrate reserve in brain |
| HP:0000989 | Pruritus | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0003124 | Hypercholesterolemia | MP:0014169 | decreased brown adipose tissue mass | decreased physical bulk or volume of brown adipose tissue |
| HP:0001399 | Hepatic failure | 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:0002014 | Diarrhea | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0002017 | Nausea and vomiting | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0002240 | Hepatomegaly | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0001744 | Splenomegaly | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0010512 | Adrenal calcification | MP:0011939 | increased food intake | increase in the total number of calories/food amount taken in over time when compared to the normal state |
| HP:0000952 | Jaundice | MP:0020215 | impaired blood coagulation | impaired ability of the blood to clot |
| Disease ID | 163 |
|---|---|
| Disease | cholesteryl ester storage disease |
| Case | (Waiting for update.) |