SeniorâLøken syndrome | |
---|---|
Other names | Renal dysplasia-retinal aplasia syndrome |
![]() | |
SeniorâLøken syndrome is an autosomal recessive inherited condition | |
Specialty |
Medical genetics
![]() |
SeniorâLøken syndrome is a congenital eye disorder, first characterized in 1961. [1] [2] [3] It is a rare, ciliopathic, autosomal recessive disorder characterized by juvenile nephronophthis and progressive eye disease. [4]
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 |
The cause of SeniorâLøken syndrome type 5 has been identified to mutation in the NPHP1 gene which adversely affects the protein formation mechanism of the cilia. [6]
Recent findings in genetic research have suggested that a large number of genetic disorders, both genetic syndromes and genetic diseases, that were not previously identified in the medical literature as related, may be, in fact, highly related in the genetypical root cause of the widely varying, phenotypically-observed disorders. Such diseases are becoming known as ciliopathies. Known ciliopathies include primary ciliary dyskinesia, BardetâBiedl syndrome, polycystic kidney and liver disease, nephronophthisis, AlstrĂśm syndrome, MeckelâGruber syndrome and some forms of retinal degeneration. [4]
![]() | This section is empty. You can help by
adding to it. (August 2017) |
![]() | This section is empty. You can help by
adding to it. (August 2017) |
SeniorâLøken syndrome | |
---|---|
Other names | Renal dysplasia-retinal aplasia syndrome |
![]() | |
SeniorâLøken syndrome is an autosomal recessive inherited condition | |
Specialty |
Medical genetics
![]() |
SeniorâLøken syndrome is a congenital eye disorder, first characterized in 1961. [1] [2] [3] It is a rare, ciliopathic, autosomal recessive disorder characterized by juvenile nephronophthis and progressive eye disease. [4]
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 |
The cause of SeniorâLøken syndrome type 5 has been identified to mutation in the NPHP1 gene which adversely affects the protein formation mechanism of the cilia. [6]
Recent findings in genetic research have suggested that a large number of genetic disorders, both genetic syndromes and genetic diseases, that were not previously identified in the medical literature as related, may be, in fact, highly related in the genetypical root cause of the widely varying, phenotypically-observed disorders. Such diseases are becoming known as ciliopathies. Known ciliopathies include primary ciliary dyskinesia, BardetâBiedl syndrome, polycystic kidney and liver disease, nephronophthisis, AlstrĂśm syndrome, MeckelâGruber syndrome and some forms of retinal degeneration. [4]
![]() | This section is empty. You can help by
adding to it. (August 2017) |
![]() | This section is empty. You can help by
adding to it. (August 2017) |