| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (48.2%) |
25610265 |
Senior-loken syndrome with rare manifestations: a case report. Aggarwal HK, Jain D, Yadav S, Kaverappa V, Gupta A. Eurasian J Med. 2013;45(2):128-31. |
| Polyuria Short metacarpal | ||
| 1 (48.2%) |
11229290 |
Senior-Loken syndrome with unusual manifestations. Singh NP, Anuradha S, Gupta S, Rizvi SN, Arora R. J Assoc Physicians India. 1998;46(8):740-2. |
| Kyphoscoliosis Short metacarpal | ||
| Adult Electroretinography Females Hand Homo sapiens Kidney Diseases Male Syndrome Ultrasonography | ||
| 3 (39.0%) |
10508989 |
Cerebello-oculo-renal syndromes including Arima, Senior-Loken and COACH syndromes: more than just variants of Joubert syndrome. Satran D, Pierpont ME, Dobyns WB. Am J Med Genet. 1999;86(5):459-69. |
| Dandy-Walker malformation | ||
| rs1281778614 rs201893408 rs375824494 rs752362727 rs775883520 | ||
| Cerebellum Child Eye Abnormalities Homo sapiens Kidney Male Syndrome | ||
| 4 (32.2%) |
6696034 |
Leber's congenital amaurosis associated with familial juvenile nephronophthisis and cone-shaped epiphyses of the hands (the Saldino-Mainzer syndrome). Ellis DS, Heckenlively JR, Martin CL, Lachman RS, Sakati NA, Rimoin DL. Am J Ophthalmol. 1984;97(2):233-9. |
| Skeletal dysplasia Cone-shaped epiphysis | ||
| Blindness Cerebellar Ataxia Child Congenital Hand Deformities Females Genes, Recessive Homo sapiens Kidney Diseases Male Skin Neoplasms Syndrome | ||
| 5 (4.0%) |
31205846 |
Exudative Retinal Detachment due to Coats Disease in a Teenager with Senior-Loken Syndrome: Case Report and Review of Literature. Khairil-Ridzwan KK, Azian A, Hanizasurana H, Shatriah I. Cureus. 2019;11(4):e4460. |
| Visual impairment | ||
| 5 (4.0%) |
28050464 |
Senior Loken Syndrome. Kaur A, Dhir SK, Goyal G, Mittal N, Goyal RK. J Clin Diagn Res. 2016;10(11):SD03-SD04. |
| Retinal degeneration | ||
| 5 (4.0%) |
26911721 (4766635) |
Median sacral artery injury following a bone marrow biopsy successfully treated with selective trans-arterial embolization: a case report. Al Zahrani Y, Peck D. J Med Case Rep. 2016;10:42. |
| Anemia | ||
| Anemia Arteries Bone Marrow Embolization, Therapeutic Endovascular Procedures Hematoma Homo sapiens Male Retroperitoneal Space Young Adult | ||
| 5 (4.0%) |
25984213 (4421651) |
Senior-Loken syndrome secondary to NPHP5/IQCB1 mutation in an Iranian family. Haghighi A, Al-Hamed M, Al-Hissi S, Hynes AM, Sharifian M, Roozbeh J, Saleh-Gohari N, Sayer JA. NDT Plus. 2011;4(6):421-3. |
| Retinal degeneration | ||
| IQCB1 | ||
| p|SUB|R|332|X | ||
| 5 (4.0%) |
25584255 |
Senior- loken syndrome - a ciliopathy. R H. J Clin Diagn Res. 2014;8(11):MD04-5. |
| Renal insufficiency | ||
| 5 (4.0%) |
24961278 |
Unexpectedly high prevalence of rare genetic disorders in kidney transplant recipients with an unknown causal nephropathy. Quaglia M, Musetti C, Ghiggeri GM, Fogazzi GB, Settanni F, Boldorini RL, Lazzarich E, Airoldi A, Izzo C, Giordano M, Stratta P. Clin Transplant. 2014;28(9):995-1003. |
| Focal segmental glomerulosclerosis | ||
| HNF1B INF2 UMOD | ||
| Adult Females Follow-Up Studies Genetic Diseases, Inborn Glomerular Filtration Rate Graft Rejection Graft Survival Homo sapiens Kidney Diseases Kidney Function Tests Kidney Transplantation Male Middle Aged Rare Diseases Retrospective Studies Transplant Recipients Young Adult |
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 |