Hearing Loss Disease Portal


 
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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes
Disease Browser
Parent Node:
expandKidney Diseases, Cystic (D052177)
Parent Node:
expandLeber Congenital Amaurosis (D057130)
Parent Node:
expandOptic Atrophies, Hereditary (D015418)
..Starting node
..expandSenior-Loken Syndrome 6 (C565708)

       Child Nodes:



 Sister Nodes: 
..expandBerk-Tabatznik syndrome (C535432)
..expandFriedreich Ataxia, So-Called, with Optic Atrophy and Sensorineural Deafness (C564999)
..expandGrowth retardation, Alopecia, Pseudoanodontia and Optic atrophy (C535642)
..expandHagemoser Weinstein Bresnick syndrome (C537626)
..expandKonigsmark Knox Hussels syndrome (C537214)
..expandMetaphyseal Dysplasia, Anetoderma, and Optic Atrophy (C565395)
..expandNecrotizing Encephalomyelopathy, Subacute, of Leigh, Adult (C563530)
..expandOptic atrophy 1 and deafness (C537124)
..expandOptic Atrophy 4 (C565343)
..expandOptic atrophy 5 (C537126)
..expandOptic atrophy 6 (C537127)
..expandOptic Atrophy 7 (C567833)
..expandOptic atrophy and cataract, autosomal dominant (C537128)
..expandOptic atrophy polyneuropathy deafness (C537129)
..expandOptic Atrophy Spastic Paraplegia Syndrome (C564084)
..expandOptic Atrophy with Demyelinating Disease of CNS (C563496)
..expandOptic Atrophy with Negative Electroretinograms (C563494)
..expandOptic Atrophy, Autosomal Dominant (D029241)
..expandOptic Atrophy, Deafness, Ophthalmoplegia, and Myopathy (C565117)
..expandOptic Atrophy, Hereditary, Leber (D029242) Child1
..expandSenior Loken Syndrome (C537580)
..expandSenior-Loken Syndrome 3 (C564637)
..expandSenior-Loken Syndrome 5 (C563763)
..expandSenior-Loken Syndrome 6 (C565708)
..expandSpastic Paraplegia, Optic Atrophy, And Dementia (C566679)
..expandSpastic Paraplegia, Optic Atrophy, Microcephaly, And Xy Sex Reversal (C566409)
..expandWolfram Syndrome (D014929) Child1
..expandWolfram Syndrome, Mitochondrial Form (C564012)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
Term ID:10122
Name:Senior-Loken Syndrome 6
Definition:
Alternative IDs:OMIM:610189
ParentIDs:MESH:D015418|MESH:D052177|MESH:D057130
TreeNumbers:C10.292.700.225.500/C565708 |C10.574.500.662/C565708 |C11.270.516/C565708 |C11.270.564/C565708 |C11.640.451.451/C565708 |C11.768.364/C565708 |C12.777.419.403/C565708 |C13.351.968.419.403/C565708 |C16.320.290.564/C565708 |C16.320.400.630/C565708
Synonyms:SLSN6
Slim Mappings:Eye disease|Genetic disease (inborn)|Nervous system disease|Urogenital disease (female)|Urogenital disease (male)
Reference: MedGen: C565708
MeSH: C565708
OMIM: 610189;

Genes: CEP290;
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0000707Abnormality of the nervous system
3 HP:0000547obsolete Tapetoretinal degeneration
4 HP:0007663Reduced visual acuity
5 HP:0003774Stage 5 chronic kidney disease
6 HP:0000505Visual impairment
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVarDisease_hgmd
NM_025114.3(CEP290):c.4243G>T (p.Glu1415Ter)80184CEP290Likely pathogenic797044604RCV000192446; NMedGen:C0752166,OMIM:209900,ORPHA:110,SNOMED CT:5619004; MedGen:C1857779,OMIM:610189; MedGen:C1857780,OMIM:610188; MedGen:C1857821,OMIM:611755; MedGen:C1970161,OMIM:611134128848022788480227NM_025114.3:c.4243G>TNP_079390.3:p.Glu1415TerNC_000012.11:g.88480227C>A-C0752166 209900 Bardet-Biedl syndrome; C1857780 610188 Joubert syndrome 5; C1857821 611755 Leber congenital amaurosis 10; C1970161 611134 Meckel syndrome type 4; C1857779 610189 Senior-Loken syndrome 6