| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (56.2%) |
28508023 (5419245) |
An unusual presentation of LCAT deficiency as nephrotic syndrome with normal serum HDL-C level. Balwani MR, Ghodela VA, Kute VB, Shah PR, Patel HV, Gera DN, Vanikar A, Trivedi HL. J Nephropharmacol. 2017;6(1):23-26. |
| Proteinuria Splenomegaly Normochromic anemia | ||
| LCAT | ||
| 1 (56.2%) |
19592052 |
Splenomegaly with sea-blue histiocytosis, dyslipidemia, and nephropathy in a patient with lecithin-cholesterol acyltransferase deficiency: a clinicopathologic correlation. Naghashpour M, Cualing H. Metabolism. 2009;58(10):1459-64. |
| Splenomegaly Normochromic anemia Nephrotic range proteinuria | ||
| LCAT | ||
| Adult Blood Cell Count Dyslipidemias Homo sapiens Kidney Kidney Diseases Liver Male Phosphatidylcholine-Sterol O-Acyltransferase Sea-Blue Histiocyte Syndrome Spleen Splenomegaly Transmission Electron Microscopy X-Ray Computed Tomography | ||
| 1 (56.2%) |
6831794 |
Hereditary lecithin-cholesterol acyltransferase deficiency. Report of 2 new cases and review of the literature. Shojania AM, Jain SK, Shohet SB. Clin Invest Med. 1983;6(1):49-55. |
| Proteinuria Splenomegaly Hemolytic anemia | ||
| LCAT | ||
| Adult Anemia, Hemolytic Bloom Syndrome Corneal Opacity Females Homo sapiens Hypolipoproteinemias Male Proteinuria | ||
| 4 (40.2%) |
7849380 |
Japanese family with a deficiency of lecithin:cholesterol acyltransferase (LCAT). Naito M, Maeda E, Yoshino G, Kasuga M, Iguchi A, Kuzuya F. Intern Med. 1994;33(11):677-82. |
| Proteinuria Anemia Poikilocytosis | ||
| APOE LCAT | ||
| Adult Corneal Opacity Females Heterozygote High Density Lipoprotein Cholesterol Homo sapiens Homozygote Japan Lipoproteins Male Middle Aged Phosphatidylcholine-Sterol O-Acyltransferase | ||
| 5 (39.2%) |
12410048 |
Histopathology of corneal changes in lecithin-cholesterol acyltransferase deficiency. Viestenz A, Schlotzer-Schrehardt U, Hofmann-Rummelt C, Seitz B, Kuchle M. Cornea. 2002;21(8):834-7. |
| Proteinuria Anemia Arteriosclerosis | ||
| LCAT | ||
| Amyloidosis Cornea Corneal Opacity Genes, Recessive Homo sapiens Male Phosphatidylcholine-Sterol O-Acyltransferase | ||
| 5 (39.2%) |
8027002 |
Lecithin-cholesterol acyltransferase deficiency: first report of case in a United States citizen. Neumann MJ, Whisiker-Lewis S. J Am Osteopath Assoc. 1994;94(4):333-5. |
| Proteinuria Normochromic anemia Premature arteriosclerosis | ||
| LCAT | ||
| Adult Homo sapiens Male United States | ||
| 5 (39.2%) |
6476690 |
Corneal opacification and lecithin-cholesterol acyltransferase (LCAT) deficiency: a case report. Hesterberg RC Jr, Tredici TJ. Ann Ophthalmol. 1984;16(7):616-21. |
| Proteinuria Anemia Atherosclerosis | ||
| LCAT | ||
| Adult Corneal Opacity Homo sapiens Hypolipoproteinemias Male Vision Disorders Visual Acuity | ||
| 5 (39.2%) |
3661502 |
Hereditary lecithin-cholesterol acyltransferase deficiency. Case report of a German patient. Weber P, Owen JS, Desai K, Clemens MR. Am J Clin Pathol. 1987;88(4):510-6. |
| Proteinuria Anemia Foam cells | ||
| APOE LCAT | ||
| Adult Biopsy Erythrocytes Females Homo sapiens Hypolipoproteinemias Kidney Lipids Lipoproteins Platelet Function Tests Sterol O-Acyltransferase | ||
| 5 (39.2%) |
634418 |
Hereditary lecithin cholesterol acyltransferase deficiency. Report of a new family with two afflicted sisters. Chevet D, Ramee MP, Le Pogamp P, Thomas R, Garre M, Alcindor LG. Nephron. 1978;20(4):212-9. |
| Renal insufficiency Proteinuria Anemia Foam cells | ||
| LCAT | ||
| Adult Anemia, Hemolytic Child Child, Preschool Corneal Opacity Females Foam Cells Homo sapiens Hypolipoproteinemias Kidney Male Middle Aged | ||
| 10 (37.6%) |
27766813 |
Familial Lecithin Cholesterol Acyl Transferase Deficiency with Chronic Kidney Disease. Gopalakrishnan N, Arul R, Dhanapriya J, Kumar TD, Sakthirajan R, Balasubramaniyan T. J Assoc Physicians India. 2016;64(10):90-91. |
| Proteinuria Hypertension Anemia | ||
| Adult Chronic Kidney Insufficiency Females Homo sapiens |
Total: 12
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0001878 | Hemolytic anemia | Very frequent (99-80%) |
| HP:0002155 | Hypertriglyceridemia | Very frequent (99-80%) |
| HP:0007957 | Corneal opacity | Very frequent (99-80%) |
| HP:0000083 | Renal insufficiency | Frequent (79-30%) |
| HP:0000093 | Proteinuria | Frequent (79-30%) |
| HP:0000790 | Hematuria | Frequent (79-30%) |
| HP:0000822 | Hypertension | Frequent (79-30%) |
| HP:0000572 | Visual loss | Occasional (29-5%) |
| HP:0001744 | Splenomegaly | Occasional (29-5%) |
| HP:0002240 | Hepatomegaly | Occasional (29-5%) |
| HP:0002621 | Atherosclerosis | Occasional (29-5%) |
| HP:0002716 | Lymphadenopathy | Occasional (29-5%) |
Total: 24
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0007957 | Corneal opacity | 15 |
| HP:0000093 | Proteinuria | 12 |
| HP:0000100 | Nephrotic syndrome | 7 |
| HP:0001878 | Hemolytic anemia | 4 |
| HP:0001903 | Anemia | 4 |
| HP:0000112 | Nephropathy | 3 |
| HP:0001744 | Splenomegaly | 3 |
| HP:0002155 | Hypertriglyceridemia | 3 |
| HP:0002621 | Atherosclerosis | 3 |
| HP:0100820 | Glomerulopathy | 3 |
| HP:0001897 | Normocytic anemia | 2 |
| HP:0003124 | Hypercholesterolemia | 2 |
| HP:0000083 | Renal insufficiency | 1 |
| HP:0000819 | Diabetes mellitus | 1 |
| HP:0000822 | Hypertension | 1 |
| HP:0000939 | Osteoporosis | 1 |
| HP:0001084 | Corneal arcus | 1 |
| HP:0001396 | Cholestasis | 1 |
| HP:0001735 | Acute pancreatitis | 1 |
| HP:0001895 | Normochromic anemia | 1 |
| HP:0002020 | Gastroesophageal reflux | 1 |
| HP:0003146 | Hypocholesterolemia | 1 |
| HP:0009830 | Peripheral neuropathy | 1 |
| HP:0100727 | Histiocytosis | 1 |
Total: 0
| Gene Symbol | Gene Name | Entrez Gene ID |
|---|