MCID: SNR005
MIFTS: 18

Senior-Loken Syndrome 5

Categories: Genetic diseases, Rare diseases, Eye diseases, Nephrological diseases

Aliases & Classifications for Senior-Loken Syndrome 5

MalaCards integrated aliases for Senior-Loken Syndrome 5:

Name: Senior-Loken Syndrome 5 57 75 29 13 6 73
Slsn5 57 75
Senior-Loken Syndrome, Type 5 40

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
genetic heterogeneity (see for summary)
some patients do not manifest renal disease in the first decade of life


HPO:

32
senior-loken syndrome 5:
Inheritance autosomal recessive inheritance heterogeneous


Classifications:



External Ids:

OMIM 57 609254
MedGen 42 C1836517
UMLS 73 C1836517

Summaries for Senior-Loken Syndrome 5

UniProtKB/Swiss-Prot : 75 Senior-Loken syndrome 5: 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.

MalaCards based summary : Senior-Loken Syndrome 5, is also known as slsn5. An important gene associated with Senior-Loken Syndrome 5 is IQCB1 (IQ Motif Containing B1). Affiliated tissues include kidney and eye, and related phenotypes are nephronophthisis and rod-cone dystrophy

OMIM : 57 Senior-Loken syndrome is an autosomal recessive disorder with the main features of nephronophthisis (NPHP; see 256100) and Leber congenital amaurosis (LCA; see 204000). (609254)

Related Diseases for Senior-Loken Syndrome 5

Symptoms & Phenotypes for Senior-Loken Syndrome 5

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
retinitis pigmentosa (onset in infancy to early childhood)
leber congenital amaurosis

Genitourinary Kidneys:
nephronophthisis
end stage renal disease


Clinical features from OMIM:

609254

Human phenotypes related to Senior-Loken Syndrome 5:

32
# Description HPO Frequency HPO Source Accession
1 nephronophthisis 32 HP:0000090
2 rod-cone dystrophy 32 HP:0000510
3 stage 5 chronic kidney disease 32 HP:0003774

Drugs & Therapeutics for Senior-Loken Syndrome 5

Search Clinical Trials , NIH Clinical Center for Senior-Loken Syndrome 5

Genetic Tests for Senior-Loken Syndrome 5

Genetic tests related to Senior-Loken Syndrome 5:

# Genetic test Affiliating Genes
1 Senior-Loken Syndrome 5 29 IQCB1

Anatomical Context for Senior-Loken Syndrome 5

MalaCards organs/tissues related to Senior-Loken Syndrome 5:

41
Kidney, Eye

Publications for Senior-Loken Syndrome 5

Variations for Senior-Loken Syndrome 5

ClinVar genetic disease variations for Senior-Loken Syndrome 5:

6
(show all 29)
# Gene Variation Type Significance SNP ID Assembly Location
1 IQCB1 NM_001023570.3(IQCB1): c.1069C> T (p.Gln357Ter) single nucleotide variant Pathogenic rs121918245 GRCh37 Chromosome 3, 121508980: 121508980
2 IQCB1 NM_001023570.3(IQCB1): c.1381C> T (p.Arg461Ter) single nucleotide variant Pathogenic rs121918244 GRCh37 Chromosome 3, 121500619: 121500619
3 IQCB1 NM_001023570.3(IQCB1): c.1381C> T (p.Arg461Ter) single nucleotide variant Pathogenic rs121918244 GRCh38 Chromosome 3, 121781772: 121781772
4 IQCB1 NM_001023570.3(IQCB1): c.424_425delTT (p.Phe142Profs) deletion Pathogenic rs750962965 GRCh38 Chromosome 3, 121808978: 121808979
5 IQCB1 NM_001023570.3(IQCB1): c.424_425delTT (p.Phe142Profs) deletion Pathogenic rs750962965 GRCh37 Chromosome 3, 121527825: 121527826
6 IQCB1 IQCB1, 4-BP DEL, 445CTCT deletion Pathogenic
7 IQCB1 IQCB1, 4-BP DEL, 825ACAG deletion Pathogenic
8 IQCB1 NM_001023570.3(IQCB1): c.1069C> T (p.Gln357Ter) single nucleotide variant Pathogenic rs121918245 GRCh38 Chromosome 3, 121790133: 121790133
9 IQCB1 NM_001023570.3(IQCB1): c.333delT (p.Ala112Glnfs) deletion Pathogenic rs786200929 GRCh37 Chromosome 3, 121544958: 121544958
10 IQCB1 NM_001023570.3(IQCB1): c.333delT (p.Ala112Glnfs) deletion Pathogenic rs786200929 GRCh38 Chromosome 3, 121826111: 121826111
11 IQCB1 IQCB1, 2-BP DEL, 1516CA deletion Pathogenic
12 IQCB1 NM_001023570.3(IQCB1): c.1465C> T (p.Arg489Ter) single nucleotide variant Pathogenic rs373909351 GRCh37 Chromosome 3, 121491506: 121491506
13 IQCB1 NM_001023570.3(IQCB1): c.1465C> T (p.Arg489Ter) single nucleotide variant Pathogenic rs373909351 GRCh38 Chromosome 3, 121772659: 121772659
14 IQCB1 NM_001023570.3(IQCB1): c.1036G> T (p.Glu346Ter) single nucleotide variant Pathogenic rs387907009 GRCh37 Chromosome 3, 121509013: 121509013
15 IQCB1 NM_001023570.3(IQCB1): c.1036G> T (p.Glu346Ter) single nucleotide variant Pathogenic rs387907009 GRCh38 Chromosome 3, 121790166: 121790166
16 IQCB1 NM_001023570.3(IQCB1): c.1518_1519delCA (p.His506Glnfs) deletion Pathogenic rs398123538 GRCh37 Chromosome 3, 121491452: 121491453
17 IQCB1 NM_001023570.3(IQCB1): c.1518_1519delCA (p.His506Glnfs) deletion Pathogenic rs398123538 GRCh38 Chromosome 3, 121772605: 121772606
18 IQCB1 NM_001023570.3(IQCB1): c.1522_1523dupGA (p.Ala509Lysfs) duplication Pathogenic rs587783011 GRCh37 Chromosome 3, 121491448: 121491449
19 IQCB1 NM_001023570.3(IQCB1): c.1522_1523dupGA (p.Ala509Lysfs) duplication Pathogenic rs587783011 GRCh38 Chromosome 3, 121772601: 121772602
20 IQCB1 NM_001023570.3(IQCB1): c.1090C> T (p.Arg364Ter) single nucleotide variant Pathogenic rs727503968 GRCh37 Chromosome 3, 121508959: 121508959
21 IQCB1 NM_001023570.3(IQCB1): c.1090C> T (p.Arg364Ter) single nucleotide variant Pathogenic rs727503968 GRCh38 Chromosome 3, 121790112: 121790112
22 IQCB1 NM_001023570.3(IQCB1): c.264-2A> T single nucleotide variant Pathogenic rs727503969 GRCh37 Chromosome 3, 121545029: 121545029
23 IQCB1 NM_001023570.3(IQCB1): c.264-2A> T single nucleotide variant Pathogenic rs727503969 GRCh38 Chromosome 3, 121826182: 121826182
24 IQCB1 NM_001023570.3(IQCB1): c.817G> T (p.Glu273Ter) single nucleotide variant Pathogenic rs794727964 GRCh37 Chromosome 3, 121516024: 121516024
25 IQCB1 NM_001023570.3(IQCB1): c.817G> T (p.Glu273Ter) single nucleotide variant Pathogenic rs794727964 GRCh38 Chromosome 3, 121797177: 121797177
26 IQCB1 NM_001023570.3(IQCB1): c.214C> T (p.Arg72Ter) single nucleotide variant Pathogenic rs201405662 GRCh37 Chromosome 3, 121547366: 121547366
27 IQCB1 NM_001023570.3(IQCB1): c.214C> T (p.Arg72Ter) single nucleotide variant Pathogenic rs201405662 GRCh38 Chromosome 3, 121828519: 121828519
28 IQCB1 NM_001023570.3(IQCB1): c.1363C> T (p.Arg455Ter) single nucleotide variant Pathogenic rs866982675 GRCh38 Chromosome 3, 121781790: 121781790
29 IQCB1 NM_001023570.3(IQCB1): c.1363C> T (p.Arg455Ter) single nucleotide variant Pathogenic rs866982675 GRCh37 Chromosome 3, 121500637: 121500637

Expression for Senior-Loken Syndrome 5

Search GEO for disease gene expression data for Senior-Loken Syndrome 5.

Pathways for Senior-Loken Syndrome 5

GO Terms for Senior-Loken Syndrome 5

Sources for Senior-Loken Syndrome 5

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