| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 55 (5.0%) |
12447720 |
[Ocular Manifestation of Mucopolysaccharidosis I-S (Scheie's Syndrome)]. Viestenz A, Shin YS, Viestenz A, Naumann GO. Klin Monbl Augenheilkd. 2002;219(10):745-8. |
| Visual loss | ||
| Corneal Opacity Differential Diagnosis Homo sapiens Keratoplasty, Penetrating Leukocytes Male Middle Aged Mucopolysaccharidosis I | ||
| 55 (5.0%) |
8372645 |
Acute presentation of Tangier polyneuropathy: a clinical and morphological study. Fazio R, Nemni R, Quattrini A, Ruotolo G, Iannaccone S, Mamoli D, Lodi M, Canal N. Acta Neuropathol. 1993;86(1):90-4. |
| Peripheral neuropathy | ||
| Electron Microscopy Females Hepatomegaly Histocytochemistry Homo sapiens Italy Middle Aged Motor Neurons Paraffin Embedding Splenomegaly Tangier Disease Ultrasonography | ||
| 55 (5.0%) |
8221181 |
[Arcus juvenilis and lecithin:cholesterol acyltransferase functions. Report of a case of familial fish-eye-disease]. Clerc M, Pouliquen Y. Bull Acad Natl Med. 1993;177(5):807-20; discussion 820-2. |
| Corneal arcus | ||
| APOA1 APOA2 LCAT | ||
| Arcus Senilis Corneal Opacity Homo sapiens Male Middle Aged | ||
| 55 (5.0%) |
6317140 |
Peripheral neuropathy in Tangier disease. Pollock M, Nukada H, Frith RW, Simcock JP, Allpress S. Brain. 1983;106 ( Pt 4):911-28. |
| Peripheral neuropathy | ||
| Adult Females Homo sapiens Hypolipoproteinemias Male Middle Aged Peripheral Nervous System Diseases Syringomyelia Tangier Disease | ||
| 55 (5.0%) |
4082916 |
Neuropathy in Tangier disease: A clinicopathologic study and a review of the literature. Pietrini V, Rizzuto N, Vergani C, Zen F, Ferro Milone F. Acta Neurol Scand. 1985;72(5):495-505. |
| Facial diplegia | ||
| Biopsy Electron Microscopy Homo sapiens Hypolipoproteinemias Male Middle Aged Nerve Degeneration Nerve Fibers Peripheral Nerves Schwann Cells Tangier Disease | ||
| 55 (5.0%) |
3314502 |
Ocular complications of Tangier disease. Pressly TA, Scott WJ, Ide CH, Winkler A, Reams GP. Am J Med. 1987;83(5):991-4. |
| Visual impairment | ||
| Corneal Opacity Ectropion Homo sapiens Hypolipoproteinemias Male Tangier Disease Vision Disorders | ||
| 55 (5.0%) |
2992211 |
Tangier disease. A case with sensorimotor distal polyneuropathy and lipid accumulation in striated muscle and vasa nervorum. Marbini A, Gemignani F, Ferrarini G, Maccari S, Lucci B, Bragaglia MM, Plancher C, Vergani C. Acta Neuropathol. 1985;67(1-2):121-7. |
| Polyneuropathy | ||
| Biopsy Blood Vessel Electron Microscopy Homo sapiens Hypolipoproteinemias Lipid Metabolism Male Muscle Tissue Peripheral Nervous System Diseases Tangier Disease Vasa Nervorum | ||
| 55 (5.0%) |
2243232 |
Tangier disease: central nervous system impairment in a case of syringomyelia-like syndrome. Pietrini V, Pinna V, Milone FF. J Neurol Sci. 1990;98(2-3):245-50. |
| Cervical spinal cord atrophy | ||
| Brain Central Nervous System Homo sapiens Male Middle Aged Spinal Cord Syndrome Syringomyelia Tangier Disease X-Ray Computed Tomography | ||
| 55 (5.0%) |
216226 |
[Peripheral nerve changes in Tangier disease. Comparative light-, electron-microscopic and cytometric studies (author's transl)]. Hager H, Zimmermann P. Acta Neuropathol. 1979;45(1):53-9. |
| Peripheral neuropathy | ||
| Connective Tissue Electron Microscopy Homo sapiens Hypolipoproteinemias Lipids Male Middle Aged Nerve Fibers Nerve Regeneration Peripheral Nervous System Diseases Schwann Cells Tangier Disease | ||
| 55 (5.0%) |
75948 |
Adult-onset of Tangier disease: 1. Morphometric and pathologic studies suggesting delayed degradation of neutral lipids after fiber degeneration. Dyck PJ, Ellefson RD, Yao JK, Herbert PN. J Neuropathol Exp Neurol. 1978;37(2):119-37. |
| Facial diplegia | ||
| Axonal Transport Demyelinating Diseases Females Follow-Up Studies Forearm Homo sapiens Hypolipoproteinemias Lipid Metabolism Middle Aged Muscle Tissue Muscular Atrophy Nerve Degeneration Schwann Cells Sensory Receptor Cells 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 |