| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 5 (4.0%) |
24702534 |
Acute pancreatitis: a rare complication in a patient with senior loken syndrome. Abidi K, Jallouli M, Naija O, Zarrouk C, Gargah T. Arab J Nephrol Transplant. 2014;7(1):41-3. |
| Cholelithiasis | ||
| Abdominal Pain Adult Ciliopathies Cystic Kidney Diseases Homo sapiens Leber Congenital Amaurosis Male Nephritis, Interstitial Optic Atrophies, Hereditary Pancreatitis Retinal Dystrophies Retinitis Pigmentosa X-Ray Computed Tomography | ||
| 5 (4.0%) |
23713026 |
Broadening the ciliopathy spectrum: motile cilia dyskinesia, and nephronophthisis associated with a previously unreported homozygous mutation in the INVS/NPHP2 gene. Moalem S, Keating S, Shannon P, Thompson M, Millar K, Nykamp K, Forster A, Noor A, Chitayat D. Am J Med Genet A. 2013;161A(7):1792-6. |
| Dyskinesia | ||
| INVS | ||
| c|SUB|G|1078+1|A;RS#:375416014 | ||
| Cilia Cystic Kidney Diseases Females Homo sapiens Homozygote Kidney Male Mutation Pregnancy RNA Splice Sites Respiratory Mucosa Situs Inversus Ultrasonography, Prenatal | ||
| 5 (4.0%) |
23683095 (3904424) |
WDR19: an ancient, retrograde, intraflagellar ciliary protein is mutated in autosomal recessive retinitis pigmentosa and in Senior-Loken syndrome. Coussa RG, Otto EA, Gee HY, Arthurs P, Ren H, Lopez I, Keser V, Fu Q, Faingold R, Khan A, Schwartzentruber J, Majewski J, Hildebrandt F, Koenekoop RK. Clin Genet. 2013;84(2):150-9. |
| Renal cyst | ||
| WDR19 | ||
| c|SUB|T|2129|C;RS#:387906980 p|SUB|L|710|S;RS#:387906980 rs374400438 rs387906980 rs587777348 rs587777349 rs780847651 rs786204852 | ||
| Adult Child Child, Preschool Ciliopathies Cystic Kidney Diseases Cytoskeletal Proteins Exome Females Genes, Recessive Genetic Association Studies Genotype High-Throughput Nucleotide Sequencing Homo sapiens Infant Intracellular Signaling Peptides and Proteins Leber Congenital Amaurosis Male Mutation Optic Atrophies, Hereditary Phenotype Proteins Retinitis Pigmentosa Single Nucleotide Polymorphism | ||
| 5 (4.0%) |
23205360 |
The Senior-Loken syndrome: Two cases from the State of Qatar. Othman M, Rashed A, Bakr A. J Clin Diagn Res. 2012;6(8):1411-3. |
| Polyuria | ||
| 5 (4.0%) |
20587883 |
Senior-Loken syndrome in an Iranian family. Roozbeh J, Sharifian M, Hosseini H, Sagheb MM, Behzadi S, Raeisjalali GA, Iraniparast A, Afshariani R, Tohidi M, Sharifian M. Saudi J Kidney Dis Transpl. 2010;21(4):735-7. |
| Blindness | ||
| Adult Blindness Cataract Cataract Extraction Females Homo sapiens Intellectual Disability Kidney Diseases Male Nuclear Family Retinal Degeneration Retinitis Pigmentosa Sibling Syndrome | ||
| 5 (4.0%) |
20056295 |
[First North African observation of Leber congenital amaurosis secondary to CEP290 gene mutation]. Aboussair N, Berahou A, Perrault I, Elalaoui SC, Megzari A, Rozet JM, Kaplan J, Sefiani A. J Fr Ophtalmol. 2010;33(2):117.e1-5. |
| Congenital blindness | ||
| CEP290 | ||
| Antigens, Neoplasm Base Sequence Cell Cycle Proteins Child, Preschool Chromosome Mapping Cytoskeletal Proteins Developmental Disabilities Females Genes, Recessive Genetic Counseling Genetic Heterogeneity Homo sapiens Homozygote Leber Congenital Amaurosis Morocco Neoplasm Proteins Photophobia Sequence Deletion | ||
| 5 (4.0%) |
18445908 |
Senior-Loken syndrome in a Saudi child. AlFadhel M, AlAmir A. Saudi J Kidney Dis Transpl. 2008;19(3):443-5. |
| Retinopathy | ||
| Child Cystic Kidney Diseases Females Homo sapiens Retinal Diseases Saudi Arabia Syndrome | ||
| 5 (4.0%) |
17127790 |
Twins with senior-Loken syndrome. Giridhar S, Padmaraj R, Senguttuvan P. Indian J Pediatr. 2006;73(11):1041-3. |
| Retinal degeneration | ||
| Age of Onset Child Cystic Kidney Diseases Diseases in Twins Females Homo sapiens Kidney Failure, Chronic Nephritis, Interstitial Retinitis Pigmentosa Syndrome | ||
| 5 (4.0%) |
14969091 |
[Two cases of Senior-Loken syndrome]. Oyama T, Usui T, Hasebe H, Miki A, Matsumoto S, Suda K, Saito N, Imai K, Takagi M, Yoshizawa T, Abe H. Nippon Ganka Gakkai Zasshi. 2004;108(1):29-37. |
| Retinopathy | ||
| Autosomal Recessive Polycystic Kidney Disease Electroretinography Homo sapiens Keratoconus Kidney Failure, Chronic Male Retinitis Pigmentosa Syndrome | ||
| 5 (4.0%) |
11754908 |
A Japanese child with Senior-Loken syndrome. Sekiya K, Nakazawa M, Tanaka H. Jpn J Ophthalmol. 2001;45(6):636-9. |
| Anemia | ||
| Biopsy Child Electroretinography Females Homo sapiens Nephritis, Interstitial Retinitis Pigmentosa Syndrome |
Total: 16
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000505 | Visual impairment | Very frequent (99-80%) |
| HP:0000556 | Retinal dystrophy | Very frequent (99-80%) |
| HP:0000822 | Hypertension | Very frequent (99-80%) |
| HP:0001263 | Global developmental delay | Very frequent (99-80%) |
| HP:0003774 | Stage 5 chronic kidney disease | Very frequent (99-80%) |
| HP:0004322 | Short stature | Very frequent (99-80%) |
| HP:0007703 | Abnormality of retinal pigmentation | Very frequent (99-80%) |
| HP:0012622 | Chronic kidney disease | Very frequent (99-80%) |
| HP:0000090 | Nephronophthisis | Frequent (79-30%) |
| HP:0000529 | Progressive visual loss | Frequent (79-30%) |
| HP:0008209 | Premature ovarian insufficiency | Frequent (79-30%) |
| HP:0000518 | Cataract | Occasional (29-5%) |
| HP:0001251 | Ataxia | Occasional (29-5%) |
| HP:0002612 | Congenital hepatic fibrosis | Occasional (29-5%) |
| HP:0004348 | Abnormality of bone mineral density | Occasional (29-5%) |
| HP:0010579 | Cone-shaped epiphysis | Occasional (29-5%) |
Total: 11
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0000546 | Retinal degeneration | 3 |
| HP:0000618 | Blindness | 2 |
| HP:0000097 | Focal segmental glomerulosclerosis | 1 |
| HP:0000112 | Nephropathy | 1 |
| HP:0000580 | Pigmentary retinopathy | 1 |
| HP:0001305 | Dandy-Walker malformation | 1 |
| HP:0001903 | Anemia | 1 |
| HP:0002060 | Abnormality of the cerebrum | 1 |
| HP:0010049 | Short metacarpal | 1 |
| HP:0010579 | Cone-shaped epiphysis | 1 |
| HP:0200055 | Small hand | 1 |
Total: 10
| Gene Symbol | Gene Name | Entrez Gene ID |
|---|---|---|
| CEP290 | centrosomal protein 290 | 80184 |
| INVS | inversin | 27130 |
| IQCB1 | IQ motif containing B1 | 9657 |
| NPHP1 | nephrocystin 1 | 4867 |
| NPHP3 | nephrocystin 3 | 27031 |
| NPHP4 | nephrocystin 4 | 261734 |
| SDCCAG8 | serologically defined colon cancer antigen 8 | 10806 |
| WDR19 | WD repeat domain 19 | 57728 |
| CEP164 | centrosomal protein 164 | 22897 |
| TRAF3IP1 | TRAF3 interacting protein 1 | 26146 |