SLSN5
MCID: SNR005
MIFTS: 24

Senior-Loken Syndrome 5 (SLSN5)

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

Aliases & Classifications for Senior-Loken Syndrome 5

MalaCards integrated aliases for Senior-Loken Syndrome 5:

Name: Senior-Loken Syndrome 5 57 72 29 13 6 70
Slsn5 57 72
Senior-Loken Syndrome, Type 5 39

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

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


HPO:

31
senior-loken syndrome 5:
Inheritance autosomal recessive inheritance heterogeneous


Classifications:



External Ids:

OMIM® 57 609254
OMIM Phenotypic Series 57 PS266900
MedGen 41 C1836517
UMLS 70 C1836517

Summaries for Senior-Loken Syndrome 5

UniProtKB/Swiss-Prot : 72 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 eye and kidney, and related phenotypes are rod-cone dystrophy and nephronophthisis

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) (Updated 05-Apr-2021)

Related Diseases for Senior-Loken Syndrome 5

Symptoms & Phenotypes for Senior-Loken Syndrome 5

Human phenotypes related to Senior-Loken Syndrome 5:

31
# Description HPO Frequency HPO Source Accession
1 rod-cone dystrophy 31 HP:0000510
2 nephronophthisis 31 HP:0000090
3 stage 5 chronic kidney disease 31 HP:0003774

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Genitourinary Kidneys:
nephronophthisis
end stage renal disease

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

Clinical features from OMIM®:

609254 (Updated 05-Apr-2021)

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:

40
Eye, Kidney

Publications for Senior-Loken Syndrome 5

Articles related to Senior-Loken Syndrome 5:

# Title Authors PMID Year
1
IQCB1 mutations in patients with leber congenital amaurosis. 57 6
20881296 2011
2
Variations in NPHP5 in patients with nonsyndromic leber congenital amaurosis and Senior-Loken syndrome. 57 6
21220633 2011
3
Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin. 6 57
15723066 2005
4
Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy. 6
23559409 2013
5
Whole-exome sequencing identifies ALMS1, IQCB1, CNGA3, and MYO7A mutations in patients with Leber congenital amaurosis. 57
21901789 2011

Variations for Senior-Loken Syndrome 5

ClinVar genetic disease variations for Senior-Loken Syndrome 5:

6 (show top 50) (show all 62)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 IQCB1 NM_001023570.4(IQCB1):c.443_444CT[1] (p.Leu149fs) Microsatellite Pathogenic 1832 rs1156803164 GRCh37: 3:121527802-121527805
GRCh38: 3:121808955-121808958
2 IQCB1 NM_001023570.4(IQCB1):c.825_828del (p.Arg275fs) Deletion Pathogenic 1833 rs1474058708 GRCh37: 3:121516013-121516016
GRCh38: 3:121797166-121797169
3 IQCB1 NM_001023570.4(IQCB1):c.1069C>T (p.Gln357Ter) SNV Pathogenic 1834 rs121918245 GRCh37: 3:121508980-121508980
GRCh38: 3:121790133-121790133
4 IQCB1 NM_001023570.4(IQCB1):c.333del (p.Ala112fs) Deletion Pathogenic 30776 rs786200929 GRCh37: 3:121544958-121544958
GRCh38: 3:121826111-121826111
5 IQCB1 NM_001023570.4(IQCB1):c.1036G>T (p.Glu346Ter) SNV Pathogenic 30779 rs387907009 GRCh37: 3:121509013-121509013
GRCh38: 3:121790166-121790166
6 IQCB1 NM_001023570.4(IQCB1):c.1520_1521GA[3] (p.Ala509fs) Microsatellite Pathogenic 156379 rs587783011 GRCh37: 3:121491447-121491448
GRCh38: 3:121772600-121772601
7 IQCB1 NM_001023570.4(IQCB1):c.488-1G>A SNV Pathogenic 812120 rs779696701 GRCh37: 3:121526291-121526291
GRCh38: 3:121807444-121807444
8 IQCB1 NM_001023570.4(IQCB1):c.424_425del (p.Phe142fs) Deletion Pathogenic 1831 rs750962965 GRCh37: 3:121527825-121527826
GRCh38: 3:121808978-121808979
9 IQCB1 NM_001023570.4(IQCB1):c.897_900dup (p.Ile301fs) Duplication Pathogenic 403963 rs745340459 GRCh37: 3:121514389-121514390
GRCh38: 3:121795542-121795543
10 IQCB1 NM_001023570.4(IQCB1):c.1381C>T (p.Arg461Ter) SNV Pathogenic 1830 rs121918244 GRCh37: 3:121500619-121500619
GRCh38: 3:121781772-121781772
11 IQCB1 NM_001023570.4(IQCB1):c.1465C>T (p.Arg489Ter) SNV Pathogenic 30778 rs373909351 GRCh37: 3:121491506-121491506
GRCh38: 3:121772659-121772659
12 IQCB1 NM_001023570.4(IQCB1):c.1516_1517CA[1] (p.His506fs) Microsatellite Pathogenic 93469 rs398123538 GRCh37: 3:121491452-121491453
GRCh38: 3:121772605-121772606
13 IQCB1 NM_001023570.4(IQCB1):c.1558C>T (p.Gln520Ter) SNV Pathogenic 449717 rs779858591 GRCh37: 3:121491413-121491413
GRCh38: 3:121772566-121772566
14 IQCB1 NM_001023570.4(IQCB1):c.1632_1638dup (p.Ala547fs) Duplication Pathogenic 560465 rs767295178 GRCh37: 3:121489350-121489351
GRCh38: 3:121770503-121770504
15 IQCB1 NM_001023570.4(IQCB1):c.1441G>A (p.Glu481Lys) SNV Uncertain significance 220867 rs140630401 GRCh37: 3:121491530-121491530
GRCh38: 3:121772683-121772683
16 IQCB1 NM_001023570.4(IQCB1):c.1466G>A (p.Arg489Gln) SNV Uncertain significance 839885 GRCh37: 3:121491505-121491505
GRCh38: 3:121772658-121772658
17 IQCB1 NM_001023570.4(IQCB1):c.1150C>T (p.Arg384Trp) SNV Uncertain significance 903485 GRCh37: 3:121507259-121507259
GRCh38: 3:121788412-121788412
18 IQCB1 NM_001023570.4(IQCB1):c.814C>G (p.Gln272Glu) SNV Uncertain significance 199047 rs760296374 GRCh37: 3:121516027-121516027
GRCh38: 3:121797180-121797180
19 IQCB1 NM_001023570.4(IQCB1):c.*399A>G SNV Uncertain significance 899816 GRCh37: 3:121488793-121488793
GRCh38: 3:121769946-121769946
20 IQCB1 NM_001023570.4(IQCB1):c.*327T>C SNV Uncertain significance 899817 GRCh37: 3:121488865-121488865
GRCh38: 3:121770018-121770018
21 IQCB1 NM_001023570.4(IQCB1):c.*218G>A SNV Uncertain significance 899818 GRCh37: 3:121488974-121488974
GRCh38: 3:121770127-121770127
22 IQCB1 NM_001023570.4(IQCB1):c.791A>C (p.Gln264Pro) SNV Uncertain significance 899872 GRCh37: 3:121516050-121516050
GRCh38: 3:121797203-121797203
23 IQCB1 NM_001023570.4(IQCB1):c.782T>G (p.Leu261Arg) SNV Uncertain significance 695947 rs199959360 GRCh37: 3:121516059-121516059
GRCh38: 3:121797212-121797212
24 IQCB1 NM_001023570.4(IQCB1):c.1595G>A (p.Gly532Glu) SNV Uncertain significance 342771 rs200719828 GRCh37: 3:121489394-121489394
GRCh38: 3:121770547-121770547
25 IQCB1 NM_001023570.4(IQCB1):c.-154T>G SNV Uncertain significance 342786 rs886057830 GRCh37: 3:121553865-121553865
GRCh38: 3:121835018-121835018
26 IQCB1 NM_001023570.4(IQCB1):c.348A>G (p.Leu116=) SNV Uncertain significance 342783 rs139299149 GRCh37: 3:121544943-121544943
GRCh38: 3:121826096-121826096
27 IQCB1 NM_001023570.4(IQCB1):c.358A>T (p.Arg120Ter) SNV Uncertain significance 632394 rs1372460709 GRCh37: 3:121544933-121544933
GRCh38: 3:121826086-121826086
28 IQCB1 NM_001023570.4(IQCB1):c.*160C>T SNV Uncertain significance 900978 GRCh37: 3:121489032-121489032
GRCh38: 3:121770185-121770185
29 IQCB1 NM_001023570.4(IQCB1):c.*151T>C SNV Uncertain significance 900979 GRCh37: 3:121489041-121489041
GRCh38: 3:121770194-121770194
30 IQCB1 NM_001023570.4(IQCB1):c.*148T>C SNV Uncertain significance 900980 GRCh37: 3:121489044-121489044
GRCh38: 3:121770197-121770197
31 IQCB1 NM_001023570.4(IQCB1):c.1656C>G (p.Ala552=) SNV Uncertain significance 900981 GRCh37: 3:121489333-121489333
GRCh38: 3:121770486-121770486
32 IQCB1 NM_001023570.4(IQCB1):c.169G>T (p.Asp57Tyr) SNV Uncertain significance 901051 GRCh37: 3:121547411-121547411
GRCh38: 3:121828564-121828564
33 IQCB1 NM_001023570.4(IQCB1):c.-12-4A>T SNV Uncertain significance 901052 GRCh37: 3:121547823-121547823
GRCh38: 3:121828976-121828976
34 IQCB1 NM_001023570.4(IQCB1):c.-179G>A SNV Uncertain significance 901053 GRCh37: 3:121553890-121553890
GRCh38: 3:121835043-121835043
35 IQCB1 NM_001023570.4(IQCB1):c.-190C>T SNV Uncertain significance 342789 rs145282757 GRCh37: 3:121553901-121553901
GRCh38: 3:121835054-121835054
36 IQCB1 NM_001023570.4(IQCB1):c.1278+7C>T SNV Uncertain significance 342774 rs112780863 GRCh37: 3:121507124-121507124
GRCh38: 3:121788277-121788277
37 IQCB1 NM_001023570.4(IQCB1):c.1129+13A>G SNV Uncertain significance 342776 rs371443898 GRCh37: 3:121508907-121508907
GRCh38: 3:121790060-121790060
38 IQCB1 NM_001023570.4(IQCB1):c.722A>G (p.His241Arg) SNV Uncertain significance 342779 rs886057827 GRCh37: 3:121518087-121518087
GRCh38: 3:121799240-121799240
39 IQCB1 NM_001023570.4(IQCB1):c.1549A>T (p.Asn517Tyr) SNV Uncertain significance 215481 rs139468837 GRCh37: 3:121491422-121491422
GRCh38: 3:121772575-121772575
40 IQCB1 NM_001023570.4(IQCB1):c.1739A>C (p.Lys580Thr) SNV Uncertain significance 342769 rs199775360 GRCh37: 3:121489250-121489250
GRCh38: 3:121770403-121770403
41 IQCB1 NM_001023570.4(IQCB1):c.482A>G (p.Gln161Arg) SNV Uncertain significance 342782 rs376700204 GRCh37: 3:121527768-121527768
GRCh38: 3:121808921-121808921
42 IQCB1 NM_001023570.4(IQCB1):c.*226T>C SNV Uncertain significance 342767 rs886057822 GRCh37: 3:121488966-121488966
GRCh38: 3:121770119-121770119
43 IQCB1 NM_001023570.4(IQCB1):c.714T>C (p.Ala238=) SNV Uncertain significance 342780 rs886057828 GRCh37: 3:121518095-121518095
GRCh38: 3:121799248-121799248
44 IQCB1 NM_001023570.4(IQCB1):c.1611C>T (p.Leu537=) SNV Uncertain significance 342770 rs373762948 GRCh37: 3:121489378-121489378
GRCh38: 3:121770531-121770531
45 IQCB1 NM_001023570.4(IQCB1):c.-185C>G SNV Uncertain significance 342788 rs553719849 GRCh37: 3:121553896-121553896
GRCh38: 3:121835049-121835049
46 IQCB1 NM_001023570.4(IQCB1):c.1544G>T (p.Ser515Ile) SNV Uncertain significance 342772 rs886057823 GRCh37: 3:121491427-121491427
GRCh38: 3:121772580-121772580
47 IQCB1 NM_001023570.4(IQCB1):c.877-11C>T SNV Uncertain significance 342777 rs192296154 GRCh37: 3:121514424-121514424
GRCh38: 3:121795577-121795577
48 IQCB1 NM_001023570.4(IQCB1):c.823A>G (p.Arg275Gly) SNV Uncertain significance 342778 rs886057826 GRCh37: 3:121516018-121516018
GRCh38: 3:121797171-121797171
49 IQCB1 NM_001023570.4(IQCB1):c.1135G>A (p.Val379Met) SNV Uncertain significance 342775 rs886057825 GRCh37: 3:121507274-121507274
GRCh38: 3:121788427-121788427
50 IQCB1 NM_001023570.4(IQCB1):c.1509C>G (p.Ala503=) SNV Likely benign 901542 GRCh37: 3:121491462-121491462
GRCh38: 3:121772615-121772615

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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