Senior-Loken Syndrome-1 malady
Categories: Genetic diseases, Rare diseases, Eye diseases, Nephrological diseases
Aliases & Descriptions for Senior-Loken Syndrome-1:
Orphanet epidemiological data:52
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood; Age of death: any age
Global: Genetic diseases, Rare diseases
Anatomical: Eye diseases, Nephrological diseases
ICD10: 29 28
NIH Rare Diseases:46 Senior loken syndrome is a rare disorder characterized by the combination of two specific features: a kidney condition called nephronophthisis and an eye condition known as leber congenital amaurosis. it can be caused by mutations in one of at least six genes. the proteins produced from these genes are known or suspected to play roles in cell structures called cilia. these microscopic, finger-like projections stick out on the surface of cells and are involved in signaling pathways that transmit information between cells. cilia are important for the structure and function of many types of cells, including certain cells in the kidneys. they are also necessary for the perception of sensory input (such as vision, hearing, and smell). senior loken syndrome is inherited in an autosomal recessive pattern. last updated: 4/13/2015
MalaCards based summary: Senior-Loken Syndrome-1, also known as senior-loken syndrome, is related to senior-loken syndrome 5 and senior-loken syndrome 4, and has symptoms including multicystic kidney dysplasia, polycystic kidney dysplasia and visual impairment. An important gene associated with Senior-Loken Syndrome-1 is NPHP1 (Nephrocystin 1), and among its related pathways are Intraflagellar transport and Signaling by Hedgehog. Affiliated tissues include kidney, eye and bone, and related mouse phenotypes are digestive/alimentary and craniofacial.
Disease Ontology:11 An autosomal recessive genetic disease characterized by progressive wasting of the filtering unit of the kidney (nephronophthisis), with or without medullary cystic renal disease, and progressive eye disease.
OMIM:50 Senior-Loken syndrome is an autosomal recessive disease with the main features of nephronophthisis (NPHP; see 256100)... (266900) more...
UniProtKB/Swiss-Prot:68 Senior-Loken syndrome 1: A renal-retinal disorder characterized by progressive wasting of the filtering unit of the kidney (nephronophthisis), with or without medullary cystic renal disease, and progressive eye disease. Typically this disorder becomes apparent during the first year of life.
Symptoms by clinical synopsis from OMIM:266900
Clinical features from OMIM:266900
Symptoms:52 (show all 16)
HPO human phenotypes related to Senior-Loken Syndrome-1:(show all 20)
UMLS symptoms related to Senior-Loken Syndrome-1:polyuria, polydipsia
MalaCards organs/tissues related to Senior-Loken Syndrome-1:34
Kidney, Eye, Bone
MGI Mouse Phenotypes related to Senior-Loken Syndrome-1:39
Search GEO for disease gene expression data for Senior-Loken Syndrome-1.
Pathways related to Senior-Loken Syndrome-1 according to GeneCards Suite gene sharing:
Cellular components related to Senior-Loken Syndrome-1 according to GeneCards Suite gene sharing:(show all 19)
Biological processes related to Senior-Loken Syndrome-1 according to GeneCards Suite gene sharing:(show all 25)
29ICD10 via Orphanet
38MESH via Orphanet
51OMIM via Orphanet
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
67UMLS via Orphanet