| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (50.9%) |
11257260 |
A point mutation in ABC1 gene in a patient with severe premature coronary heart disease and mild clinical phenotype of Tangier disease. Bertolini S, Pisciotta L, Seri M, Cusano R, Cantafora A, Calabresi L, Franceschini G, Ravazzolo R, Calandra S. Atherosclerosis. 2001;154(3):599-605. |
| Angina pectoris Splenomegaly Anemia Hepatomegaly | ||
| APOA1 | ||
| c|SUB|C||T p|SUB|R|527|W;RS#:2853574 | ||
| ATP Binding Cassette Transporter 1 ATP-Binding Cassette Transporters Amino Acid Sequence Base Sequence Chromosomes, Human, Pair 9 Females Genetic Polymorphism Genotype Glycoproteins Homo sapiens Middle Aged Molecular Sequence Data Mutation Phenotype Point Mutation Severity of Illness Index Tangier Disease | ||
| 2 (45.3%) |
22959828 |
Novel mutations of ABCA1 transporter in patients with Tangier disease and familial HDL deficiency. Fasano T, Zanoni P, Rabacchi C, Pisciotta L, Favari E, Adorni MP, Deegan PB, Park A, Hlaing T, Feher MD, Jones B, Uzak AS, Kardas F, Dardis A, Sechi A, Bembi B, Minuz P, Bertolini S, Bernini F, Calandra S. Mol Genet Metab. 2012;107(3):534-41. |
| Splenomegaly Thrombocytopenia Hypocholesterolemia | ||
| ABCA1 | ||
| c|DEL|4376|T c|INS|1758_1759|G c|INS|396_397|A c|SUB|A|4465-34|G c|SUB|A|4799|G c|SUB|C|5449|T;RS#:779927521 c|SUB|G|1195-27|A;RS#:200563809 p|SUB|D|1009|Y p|SUB|H|1600|R p|SUB|N|1800|H;RS#:146292819 p|SUB|R|1068|C;RS#:745593394 p|SUB|R|130|K | ||
| ATP Binding Cassette Transporter 1 ATP-Binding Cassette Transporters Adult Animals COS Cells Cercopithecus aethiops Child Exons Females Heterozygote High Density Lipoprotein Cholesterol Homo sapiens Homozygote Hypoalphalipoproteinemias Infant Introns Male Mutation RNA Splice Sites RNA Splicing RNA, Messenger Tangier Disease | ||
| 2 (45.3%) |
2607835 |
[Tangier disease: study of the first case in Spain]. Leal Luna A, Blanco Vaca F, Gomez Gerique JA, Perez Gallofre A, Franco Peral M, Fabiani Romero F. Med Clin (Barc). 1989;93(8):301-3. |
| Splenomegaly Pancytopenia Hypercholesterolemia | ||
| Homo sapiens Hypolipoproteinemias Male Middle Aged Schwann Cells Spain Tangier Disease | ||
| 4 (40.5%) |
19317282 |
An unusual presentation of Tangier disease with gallbladder involvement. Bektas M, Savas B, Cetinkaya H, Ensari A, Oztas E, Can B, Ozden A. Acta Gastroenterol Belg. 2008;71(4):397-400. |
| Cholecystitis Thrombocytopenia Hypocholesterolemia | ||
| Cholecystitis Homo sapiens Male Middle Aged Tangier Disease | ||
| 5 (40.0%) |
10793527 |
[Anesthesia for MIDCAB (minimally invasive direct coronary bypass) in a patient with Tangier disease: a case report]. Ohnishi M, Hazama A, Kita T, Mammoto T, Akamatsu T, Kambara N, Sakai T, Kishi Y. Masui. 2000;49(4):407-9. |
| Splenomegaly Pancytopenia Hepatomegaly | ||
| Angioplasty, Balloon, Coronary Coronary Artery Bypass Surgery Homo sapiens Male Middle Aged Minimally Invasive Surgical Procedures Tangier Disease | ||
| 6 (39.1%) |
25227739 (4172812) |
Effects of miglustat treatment in a patient affected by an atypical form of Tangier disease. Sechi A, Dardis A, Zampieri S, Rabacchi C, Zanoni P, Calandra S, De Maglio G, Pizzolitto S, Maruotti V, Di Muzio A, Platt F, Bembi B. Orphanet J Rare Dis. 2014;9:143. |
| Ataxia Splenomegaly Pancytopenia | ||
| ABCA1 ABCA4 JPH3 | ||
| 1-Deoxynojirimycin ATP Binding Cassette Transporter 1 Females Homo sapiens Middle Aged Tangier Disease | ||
| 6 (39.1%) |
18787473 |
Abdominal localization of Tangier disease mimicking a pancreatic neoplasm. Sperti C, Frison L, Berselli M, Scapinello A, Gasparoni P, Pedrazzoli S. Eur J Gastroenterol Hepatol. 2008;20(10):1028-31. |
| Splenomegaly Thrombocytopenia | ||
| Differential Diagnosis Females Histiocytes Homo sapiens Magnetic Resonance Imaging Middle Aged Necrosis Pancreas Pancreatectomy Pancreatic Neoplasm Splenectomy Tangier Disease Time | ||
| 6 (39.1%) |
6614036 |
Massive omental reticuloendothelial cell lipid uptake in Tangier disease after splenectomy. Schaefer EJ, Triche TJ, Zech LA, Stein LA, Kemeny MM, Brennan MF, Brewer HB Jr. Am J Med. 1983;75(3):521-6. |
| Splenomegaly Thrombocytopenia | ||
| APOA1 | ||
| Apolipoproteins Electron Microscopy Granuloma Homo sapiens Hypolipoproteinemias Lipid Metabolism Lipoproteins Male Middle Aged Omentum Splenectomy Tangier Disease | ||
| 9 (38.0%) |
19554916 |
[Heart without HDL.Tangier disease]. Puntoni MR, Bigazzi F, Sbrana F, Pennato B, Sampietro T. Recenti Prog Med. 2009;100(4):180-3. |
| Hepatosplenomegaly Thrombocytopenia | ||
| APOA1 | ||
| Adult Biological Markers Cardiovascular Diseases Differential Diagnosis High Density Lipoprotein Cholesterol Homo sapiens Male Palatine Tonsil Tangier Disease Triglycerides | ||
| 10 (34.0%) |
11095479 |
Familial splenomegaly: macrophage hypercatabolism of lipoproteins associated with apolipoprotein E mutation [apolipoprotein E (delta149 Leu)]. Nguyen TT, Kruckeberg KE, O'Brien JF, Ji ZS, Karnes PS, Crotty TB, Hay ID, Mahley RW, O'Brien T. J Clin Endocrinol Metab. 2000;85(11):4354-8. |
| Splenomegaly Hypertriglyceridemia | ||
| APOE LCAT | ||
| rs515726148 | ||
| Adult Alanine Transaminase Animals Binding Sites Exons Homo sapiens Hypertriglyceridemia LDL-Receptor Related Protein 1 Lipoprotein Receptor Lipoproteins Male Middle Aged Postoperative Complications Rabbits Sequence Deletion Spleen Splenectomy Splenomegaly Triglycerides |
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 |