Senior–Løken syndrome
| Senior–Løken syndrome | |
|---|---|
| Other names | Renal dysplasia-retinal aplasia syndrome |
 | |
| Senior–Løken syndrome is an autosomal recessive inherited condition | |
| Specialty | Medical genetics  |
Senior–Løken syndrome is a
autosomal recessive disorder characterized by juvenile nephronophthis and progressive eye disease.[4]
Genetics
Genes involved include:
| Type | OMIM
|
Genes |
|---|---|---|
| SLSN1 | 266900 | NPHP1 |
| SLSN3 | 606995 | unknown |
| SLSN4 | 606996 | NPHP4 |
| SLSN5 | 609254 | NPHP5/IQCB1[5] |
| SLSN6 | 610189 | NPHP6/CEP290 |
| SLSN7 | 613615 | SDCCAG8 |
Pathophysiology
The cause of Senior–Løken syndrome type 5 has been identified to mutation in the NPHP1 gene which adversely affects the protein formation mechanism of the
cilia.[6]
Relation to other rare genetic disorders
Recent findings in genetic research have suggested that a large number of
disorders. Such diseases are becoming known as ciliopathies. Known ciliopathies include primary ciliary dyskinesia, Bardet–Biedl syndrome, polycystic kidney and liver disease, nephronophthisis, Alström syndrome, Meckel–Gruber syndrome and some forms of retinal degeneration.[4]
Diagnosis
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Treatment
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References
External links
- OMIM: 266900 Senior-Løken syndrome; Renal dysplasia retinal aplasia; Juvenile nephronophthisis with Leber amaurosis at NIH's Office of Rare Diseases
- OMIM: 606996 Senior-Løken syndrome 4 at NIH's Office of Rare Diseases
- NCBI Genetic Testing Registry