| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (48.8%) |
23824919 |
Exudative retinopathy, cerebral calcifications, duodenal atresia, preaxial polydactyly, micropenis, microcephaly and short stature: a new syndrome? Isidor B, Le Meur G, Conti C, Caldagues E, Lainey E, Launay E, Leclair MD, Le Francois T, Pichon O, Boisseau P, Migraine A, Keren B, Le Caignec C, Crow YJ, David A. Am J Med Genet A. 2013;161A(8):1829-32. |
| Microcephaly Preaxial polydactyly | ||
| CTC1 MIR17HG MYCN | ||
| Brain Diseases Calcinosis Child, Preschool Duodenal Obstruction Dwarfism Exudates and Transudates Genital Diseases, Male Homo sapiens Intestinal Atresia Male Microcephaly Phenotype Polydactyly Syndrome X-Ray Computed Tomography | ||
| 2 (43.6%) |
7234942 |
Coats' disease in a patient with Cornelia de Lange syndrome. Folk JC, Genovese FN, Biglan AW. Am J Ophthalmol. 1981;91(5):607-10. |
| Low-set ears Phocomelia | ||
| Amblyopia Cornelia De Lange Syndrome Cryosurgery Homo sapiens Infant Male Retinitis Syndrome Visual Acuity | ||
| 3 (30.8%) |
19373684 |
Coats' disease, megalopapilla and Cornelia de Lange syndrome. Barakat MR, Traboulsi EI, Sears JE. Ophthalmic Genet. 2009;30(2):106-8. |
| Ptosis Long eyelashes | ||
| Child, Preschool Cornelia De Lange Syndrome Exudates and Transudates Eye Abnormalities Homo sapiens Male Optic Disk Retinitis Telangiectasis | ||
| 4 (29.2%) |
19022692 |
Secondary vasoproliferative retinal tumor associated with Usher syndrome type 1. Murthy R, Honavar SG. J AAPOS. 2009;13(1):97-8. |
| Retinal capillary hemangioma | ||
| Child Differential Diagnosis Homo sapiens Male Neoplasms Pathologic Neovascularization Retinal Neoplasms Usher Syndrome | ||
| 5 (25.1%) |
25020214 |
The pearl necklace sign: a novel spectral domain optical coherence tomography finding in exudative macular disease. Gelman SK, Freund KB, Shah VP, Sarraf D. Retina. 2014;34(10):2088-95. |
| Macular degeneration Retinal arterial macroaneurysms | ||
| VEGFA | ||
| Aged, 80 and over Angiogenesis Inhibitors Antibodies, Monoclonal, Humanized Exudates and Transudates Females Fluorescein Angiography Homo sapiens Intravitreal Injections Male Middle Aged Retina Retrospective Studies Tomography, Optical Coherence Vascular Endothelial Growth Factor A Visual Acuity | ||
| 5 (25.1%) |
2607078 |
Retinal arterial macroaneurysm: a longitudinal case study. Adamczyk DT, Olivares GE, Petito GT. J Am Optom Assoc. 1989;60(11):840-5. |
| Retinopathy Retinal arterial macroaneurysms | ||
| Aneurysm Differential Diagnosis Eye Neoplasms Fluorescein Angiography Follow-Up Studies Homo sapiens Light Coagulation Longitudinal Studies Male Retinal Hemorrhage Visual Acuity | ||
| 7 (21.2%) |
25843205 |
Cerebro-retinal microangiopathy with calcifications and cysts due to recessive mutations in the CTC1 gene. Bisserbe A, Tertian G, Buffet C, Turhan A, Lambotte O, Nasser G, Alvin P, Tardieu M, Riant F, Bergametti F, Tournier-Lasserve E, Denier C. Rev Neurol (Paris). 2015;171(5):445-9. |
| Retinopathy Osteopenia | ||
| CTC1 | ||
| Ataxia Brain Neoplasms Calcinosis Central Nervous System Cysts Fetal Growth Retardation Gastrointestinal Hemorrhage Genes, Recessive Homo sapiens Leukoencephalopathy Magnetic Resonance Imaging Male Muscle Spasticity Mutation Retinal Diseases Seizures Telomere-Binding Proteins | ||
| 7 (21.2%) |
15002047 |
Coats' plus: a progressive familial syndrome of bilateral Coats' disease, characteristic cerebral calcification, leukoencephalopathy, slow pre- and post-natal linear growth and defects of bone marrow and integument. Crow YJ, McMenamin J, Haenggeli CA, Hadley DM, Tirupathi S, Treacy EP, Zuberi SM, Browne BH, Tolmie JL, Stephenson JB. Neuropediatrics. 2004;35(1):10-9. |
| Osteopenia | ||
| rs199473679 | ||
| Alopecia Bone Marrow Brain Calcinosis Child Dyskeratosis Congenita Females Growth Disorders Homo sapiens Leukoencephalopathy, Progressive Multifocal Magnetic Resonance Imaging Male Nails, Malformed X-Ray Computed Tomography | ||
| 9 (20.4%) |
20191367 (2887537) |
Focal segmental glomerulosclerosis, Coats'-like retinopathy, sensorineural deafness and chromosome 4 duplication: a new association. Reynolds BC, Lemmers RJ, Tolmie J, Howatson AG, Hughes DA. Pediatr Nephrol. 2010;25(8):1551-4. |
| Focal segmental glomerulosclerosis Basal ganglia calcification | ||
| ACTN4 FSHMD1A | ||
| Child, Preschool Chromosomes, Human, Pair 4 Females Follow-Up Studies Homo sapiens Nephrotic Syndrome Retinal Diseases Time Factors | ||
| 9 (20.4%) |
19287308 |
Adult cases of leukoencephalopathy, cerebral calcifications, and cysts: expanding the spectrum of the disorder. Kleinschmidt-Demasters BK, Cummings TJ, Hulette CM, Morgenlander JC, Corboy JR. J Neuropathol Exp Neurol. 2009;68(4):432-9. |
| Seizure Cerebral calcification | ||
| Adult Brain Calcinosis Cyst Dementia, Vascular Females Homo sapiens Magnetic Resonance Imaging Male Middle Aged |
Total: 8
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000486 | Strabismus | Very frequent (99-80%) |
| HP:0008046 | Abnormal retinal vascular morphology | Very frequent (99-80%) |
| HP:0000501 | Glaucoma | Frequent (79-30%) |
| HP:0000541 | Retinal detachment | Frequent (79-30%) |
| HP:0001103 | Abnormal macular morphology | Frequent (79-30%) |
| HP:0000518 | Cataract | Occasional (29-5%) |
| HP:0000593 | Abnormal anterior chamber morphology | Occasional (29-5%) |
| HP:0008053 | Aplasia/Hypoplasia of the iris | Occasional (29-5%) |
Total: 61
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0012231 | Exudative retinal detachment | 18 |
| HP:0000541 | Retinal detachment | 16 |
| HP:0000488 | Retinopathy | 7 |
| HP:0011532 | Subretinal exudate | 7 |
| HP:0040049 | Macular edema | 7 |
| HP:0100014 | Epiretinal membrane | 6 |
| HP:0031526 | Subretinal fluid | 5 |
| HP:0000501 | Glaucoma | 4 |
| HP:0030503 | Macular telangiectasia | 4 |
| HP:0000518 | Cataract | 3 |
| HP:0000572 | Visual loss | 3 |
| HP:0000969 | Edema | 3 |
| HP:0007898 | Exudative retinopathy | 3 |
| HP:0011508 | Macular hole | 3 |
| HP:0012636 | Retinal vein occlusion | 3 |
| HP:0031152 | Full-thickness macular hole | 3 |
| HP:0000608 | Macular degeneration | 2 |
| HP:0000938 | Osteopenia | 2 |
| HP:0001009 | Telangiectasia | 2 |
| HP:0002514 | Cerebral calcification | 2 |
| HP:0007763 | Retinal telangiectasia | 2 |
| HP:0030502 | Retinoschisis | 2 |
| HP:0031052 | Elevated vascular endothelial growth factor level | 2 |
| HP:0032118 | Retinitis | 2 |
| HP:0000097 | Focal segmental glomerulosclerosis | 1 |
| HP:0000100 | Nephrotic syndrome | 1 |
| HP:0000369 | Low-set ears | 1 |
| HP:0000486 | Strabismus | 1 |
| HP:0000505 | Visual impairment | 1 |
| HP:0000546 | Retinal degeneration | 1 |
| HP:0000555 | Leukocoria | 1 |
| HP:0000563 | Keratoconus | 1 |
| HP:0000646 | Amblyopia | 1 |
| HP:0000648 | Optic atrophy | 1 |
| HP:0001007 | Hirsutism | 1 |
| HP:0001028 | Hemangioma | 1 |
| HP:0001147 | Retinal exudate | 1 |
| HP:0001159 | Syndactyly | 1 |
| HP:0001289 | Confusion | 1 |
| HP:0001409 | Portal hypertension | 1 |
| HP:0001511 | Intrauterine growth retardation | 1 |
| HP:0001903 | Anemia | 1 |
| HP:0002135 | Basal ganglia calcification | 1 |
| HP:0002239 | Gastrointestinal hemorrhage | 1 |
| HP:0002352 | Leukoencephalopathy | 1 |
| HP:0002835 | Aspiration | 1 |
| HP:0002861 | Melanoma | 1 |
| HP:0003651 | Foam cells | 1 |
| HP:0005306 | Capillary hemangioma | 1 |
| HP:0006934 | Congenital nystagmus | 1 |
| HP:0007648 | Punctate cataract | 1 |
| HP:0007917 | Tractional retinal detachment | 1 |
| HP:0007989 | Intraretinal exudate | 1 |
| HP:0009711 | Retinal capillary hemangioma | 1 |
| HP:0009829 | Phocomelia | 1 |
| HP:0011505 | Cystoid macular edema | 1 |
| HP:0011886 | Hyphema | 1 |
| HP:0012109 | Angle closure glaucoma | 1 |
| HP:0012508 | Metamorphopsia | 1 |
| HP:0025355 | Retinal arterial macroaneurysms | 1 |
| HP:0100658 | Cellulitis | 1 |