eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| fish-eye disease | ||||
| Disease ID | 727 |
|---|---|
| Disease | fish-eye disease |
| Definition | Fish-eye disease is a genetic disorder involving a deficiency in lecithin—cholesterol acyltransferase (LCAT) metabolism.[1] While LCAT metabolism in familial LCAT deficiency is fully inactive, patients with fish-eye disease only have a partial deficiency of LCAT.[1] Carlson and Philipson found that the disease was named so because the cornea of the eye was so opaque or cloudy with dots of cholesterol that it resembled a boiled fish.[2] - Wikipedia Reference: https://en.wikipedia.org/wiki/fish-eye disease |
| Synonym | corneal dystrophy, dyslipoproteinemic disease fish-eye dyslipoproteinemic corneal dystrophy fed fed - fish-eye disease fish eye disease fish-eye disease (disorder) |
| Orphanet | |
| OMIM | |
| UMLS | C0342895 |
| SNOMED-CT | |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Inferring Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Text Mined Gene | (Waiting for update.) |
| Locus | Symbol | Locus(Total Locus:1) LCAT | 16q22.1 |
| Disease ID | 727 |
|---|---|
| Disease | fish-eye disease |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:13) HP:0003233 | Low HDL-cholesterol HP:0002155 | Increased triglycerides HP:0001744 | Splenomegaly HP:0003141 | Hyperbetalipoproteinemia HP:0003362 | Increased circulating very-low-density lipoprotein cholesterol HP:0002716 | Lymphadenopathy HP:0003233 | Hypoalphalipoproteinemia HP:0000505 | Visual impairment HP:0007957 | Corneal opacity HP:0007759 | Cloudy cornea HP:0002240 | Hepatomegaly HP:0001681 | Angina pectoris HP:0002621 | Atherosclerosis |
| Text Mined Phenotype | (Waiting for update.) |
| Disease ID | 727 |
|---|---|
| Disease | fish-eye disease |
| 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:5) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs121908050 | NA | 3931 | LCAT | umls:C0342895 | CLINVAR | NA | 0.446710102 | NA | LCAT | 16 | 67942754 | G | A |
| rs121908053 | NA | 3931 | LCAT | umls:C0342895 | CLINVAR | NA | 0.446710102 | NA | LCAT | 16 | 67940115 | G | A |
| rs121908056 | NA | 3931 | LCAT | umls:C0342895 | CLINVAR | NA | 0.446710102 | NA | LCAT | 16 | 67940255 | GAG | - |
| rs121908057 | NA | 3931 | LCAT | umls:C0342895 | CLINVAR | NA | 0.446710102 | NA | LCAT | 16 | 67942731 | T | C |
| rs794726664 | NA | 3931 | LCAT | umls:C0342895 | CLINVAR | NA | 0.446710102 | NA | LCAT | 16 | 67942609 | A | G |
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: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:0007759 | Opacification of the corneal stroma | MP:0012129 | failure of blastocyst formation | inability to form a blastocyst from a solid ball of cells known as a morula |
| 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 |
Mapped by homologous gene(Total Items:12) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0003141 | Hyperbetalipoproteinemia | MP:0020215 | impaired blood coagulation | impaired ability of the blood to clot |
| HP:0001681 | Angina pectoris | 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:0003233 | Hypoalphalipoproteinemia | MP:0020215 | impaired blood coagulation | impaired ability of the blood to clot |
| 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:0002716 | Lymphadenopathy | MP:0020215 | impaired blood coagulation | impaired ability of the blood to clot |
| 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: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:0007759 | Opacification of the corneal stroma | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| 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:0003362 | Increased circulating very-low-density lipoprotein cholesterol | MP:0020215 | impaired blood coagulation | impaired ability of the blood to clot |
| Disease ID | 727 |
|---|---|
| Disease | fish-eye disease |
| Case | (Waiting for update.) |