| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 35 (10.8%) |
8053248 |
[Coronary angiography and intravascular ultrasound examination of a 60-year-old patient with familial HDL deficiency (Tangier disease)]. Walter M, Kerber S, Fechtrup C, Seedorf U, Breithardt G, Assmann G. Z Kardiol. 1994;83(5):381-5. |
| Angina pectoris Atherosclerosis | ||
| Arteriosclerosis Coronary Artery Disease High Density Lipoproteins Homo sapiens Male Middle Aged Tangier Disease Ultrasonography, Interventional | ||
| 35 (10.8%) |
7848370 |
Characterization of atherosclerosis in a patient with familial high-density lipoprotein deficiency. Walter M, Kerber S, Fechtrup C, Seedorf U, Breithardt G, Assmann G. Atherosclerosis. 1994;110(2):203-8. |
| Atherosclerosis | ||
| Adult Arteriosclerosis Females High Density Lipoproteins Homo sapiens Male Middle Aged Tangier Disease Ultrasonography, Interventional | ||
| 35 (10.8%) |
6421598 |
Bile lipid composition and haemostatic variables in a case of high density lipoprotein deficiency (Tangier disease). Vergani CG, Plancher AC, Zuin M, Cattaneo M, Tramaloni C, Maccari S, Roma P, Catapano AL. Eur J Clin Invest. 1984;14(1):49-54. |
| Atherosclerosis | ||
| Apolipoprotein A-I Apolipoproteins Bile Acids and Salts Blood Coagulation Disorders Blood Platelet Disorders High Density Lipoprotein Cholesterol High Density Lipoproteins Homo sapiens Hypolipoproteinemias Lipids Male Middle Aged Tangier Disease Thromboxane B2 | ||
| 35 (10.8%) |
3934306 |
Familial apolipoprotein A-I and C-III deficiency, variant II. Schaefer EJ, Ordovas JM, Law SW, Ghiselli G, Kashyap ML, Srivastava LS, Heaton WH, Albers JJ, Connor WE, Lindgren FT, et al.. J Lipid Res. 1985;26(9):1089-101. |
| Stroke | ||
| APOA1 APOA2 APOC3 LCAT | ||
| Adult Apolipoprotein A-I Apolipoproteins Apolipoproteins A Apolipoproteins C DNA Fatty Acids Females Genes High Density Lipoproteins Homo sapiens Lipoproteins Male Middle Aged Sterol O-Acyltransferase | ||
| 35 (10.8%) |
1778223 |
A 'Fish-eye disease' familial condition with massive corneal opacities and hypoalphalipoproteinaemia: clinical, biochemical and genetic features. Clerc M, Dumon MF, Sess D, Freneix-Clerc M, Mackness M, Conri C. Eur J Clin Invest. 1991;21(6):616-24. |
| Atherosclerosis | ||
| APOA1 APOA2 JPH3 LCAT NLRP3 | ||
| Child Cornea Corneal Opacity Females Genes, Recessive Homo sapiens Lipid Metabolism Male Middle Aged Syndrome Tangier Disease | ||
| 35 (10.8%) |
1380771 |
The heart in Tangier disease. Severe coronary atherosclerosis with near absence of high-density lipoprotein cholesterol. Mautner SL, Sanchez JA, Rader DJ, Mautner GC, Ferrans VJ, Fredrickson DS, Brewer HB Jr, Roberts WC. Am J Clin Pathol. 1992;98(2):191-8. |
| Atherosclerosis | ||
| Coronary Artery Disease Electron Microscopy High Density Lipoprotein Cholesterol Homo sapiens Male Myocardium Staining and Labeling Tangier Disease | ||
| 35 (10.8%) |
91022 |
Fish-eye disease. A new familial condition with massive corneal opacities and dyslipoproteinaemia. Carlson LA, Philipson B. Lancet. 1979;2(8149):922-4. |
| Visual impairment Atherosclerosis | ||
| LCAT | ||
| Adult Cholesterol Esters Corneal Opacity Differential Diagnosis Females High Density Lipoproteins Homo sapiens Hyperlipoproteinemias Low-Density Lipoproteins Male Middle Aged Phosphatidylcholine-Sterol O-Acyltransferase Syndrome Tangier Disease Triglycerides | ||
| 48 (9.2%) |
21844573 |
Transient dyslipidemia mimicking the plasma lipid profile of Tangier disease in a diabetic patient with gram negative sepsis. Palacio C, Alexandraki I, Bertholf RL, Mooradian AD. Ann Clin Lab Sci. 2011;41(2):150-3. |
| Sepsis | ||
| Bacteremia Complications of Diabetes Mellitus Diabetes Mellitus Dyslipidemias Escherichia coli Females High Density Lipoprotein Cholesterol Homo sapiens Middle Aged Tangier Disease Triglycerides | ||
| 48 (9.2%) |
18335469 |
Sporadic bulbospinal muscle atrophy with facial-onset sensory neuropathy. Isoardo G, Troni W. Muscle Nerve. 2008;37(5):659-62. |
| Meningitis | ||
| Action Potentials Facial Nerve Diseases Homo sapiens Male Middle Aged Sensation Disorders Spinal Muscular Atrophy | ||
| 48 (9.2%) |
3926343 |
Urinary proteins in a patient with Tangier disease. Pritchard PH, Bergseth M, McLeod R, Hayden MR, Frohlich J. Clin Biochem. 1985;18(2):98-101. |
| Chronic infection | ||
| APOA1 | ||
| Adult Apolipoprotein A-I Apolipoproteins A High Density Lipoproteins Homo sapiens Hypolipoproteinemias Immunoglobulin Light Chains Male Molecular Weight Tangier Disease |
Total: 22
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0002155 | Hypertriglyceridemia | Very frequent (99-80%) |
| HP:0003146 | Hypocholesterolemia | Very frequent (99-80%) |
| HP:0000656 | Ectropion | Frequent (79-30%) |
| HP:0000958 | Dry skin | Frequent (79-30%) |
| HP:0001433 | Hepatosplenomegaly | Frequent (79-30%) |
| HP:0002027 | Abdominal pain | Frequent (79-30%) |
| HP:0002460 | Distal muscle weakness | Frequent (79-30%) |
| HP:0002730 | Chronic noninfectious lymphadenopathy | Frequent (79-30%) |
| HP:0003477 | Peripheral axonal neuropathy | Frequent (79-30%) |
| HP:0004943 | Accelerated atherosclerosis | Frequent (79-30%) |
| HP:0005145 | Coronary artery stenosis | Frequent (79-30%) |
| HP:0007133 | Progressive peripheral neuropathy | Frequent (79-30%) |
| HP:0008404 | Nail dystrophy | Frequent (79-30%) |
| HP:0030814 | Orange discoloured tonsils | Frequent (79-30%) |
| HP:0001349 | Facial diplegia | Occasional (29-5%) |
| HP:0001712 | Left ventricular hypertrophy | Occasional (29-5%) |
| HP:0001873 | Thrombocytopenia | Occasional (29-5%) |
| HP:0001903 | Anemia | Occasional (29-5%) |
| HP:0003396 | Syringomyelia | Occasional (29-5%) |
| HP:0006901 | Impaired thermal sensitivity | Occasional (29-5%) |
| HP:0007957 | Corneal opacity | Occasional (29-5%) |
| HP:0100546 | Carotid artery stenosis | Occasional (29-5%) |
Total: 35
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0001744 | Splenomegaly | 5 |
| HP:0002621 | Atherosclerosis | 5 |
| HP:0009830 | Peripheral neuropathy | 5 |
| HP:0002155 | Hypertriglyceridemia | 3 |
| HP:0001271 | Polyneuropathy | 2 |
| HP:0001433 | Hepatosplenomegaly | 2 |
| HP:0002240 | Hepatomegaly | 2 |
| HP:0003146 | Hypocholesterolemia | 2 |
| HP:0003651 | Foam cells | 2 |
| HP:0000505 | Visual impairment | 1 |
| HP:0000656 | Ectropion | 1 |
| HP:0000819 | Diabetes mellitus | 1 |
| HP:0001084 | Corneal arcus | 1 |
| HP:0001287 | Meningitis | 1 |
| HP:0001297 | Stroke | 1 |
| HP:0001349 | Facial diplegia | 1 |
| HP:0001650 | Aortic valve stenosis | 1 |
| HP:0001658 | Myocardial infarction | 1 |
| HP:0001681 | Angina pectoris | 1 |
| HP:0001873 | Thrombocytopenia | 1 |
| HP:0001903 | Anemia | 1 |
| HP:0002634 | Arteriosclerosis | 1 |
| HP:0002664 | Neoplasm | 1 |
| HP:0002904 | Hyperbilirubinemia | 1 |
| HP:0003251 | Male infertility | 1 |
| HP:0004446 | Stomatocytosis | 1 |
| HP:0007141 | Sensorimotor neuropathy | 1 |
| HP:0007957 | Corneal opacity | 1 |
| HP:0010871 | Sensory ataxia | 1 |
| HP:0011970 | Cerebral amyloid angiopathy | 1 |
| HP:0012155 | Decreased corneal sensation | 1 |
| HP:0025608 | Cicatricial ectropion | 1 |
| HP:0030812 | Enlarged tonsils | 1 |
| HP:0100727 | Histiocytosis | 1 |
| HP:0100806 | Sepsis | 1 |