SLSN8
MCID: SNR015
MIFTS: 26

Senior-Loken Syndrome 8 (SLSN8)

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

Aliases & Classifications for Senior-Loken Syndrome 8

MalaCards integrated aliases for Senior-Loken Syndrome 8:

Name: Senior-Loken Syndrome 8 57 73 29 6
Slsn8 57 73
Senior-Loken Syndrome, Type 8 39

Characteristics:

OMIM®:

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


HPO:

31
senior-loken syndrome 8:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM® 57 616307
OMIM Phenotypic Series 57 PS266900

Summaries for Senior-Loken Syndrome 8

UniProtKB/Swiss-Prot : 73 Senior-Loken syndrome 8: 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 8, is also known as slsn8. An important gene associated with Senior-Loken Syndrome 8 is WDR19 (WD Repeat Domain 19). Affiliated tissues include eye and bone, and related phenotypes are pallor and reduced visual acuity

More information from OMIM: 616307 PS266900

Related Diseases for Senior-Loken Syndrome 8

Symptoms & Phenotypes for Senior-Loken Syndrome 8

Human phenotypes related to Senior-Loken Syndrome 8:

31 (show all 7)
# Description HPO Frequency HPO Source Accession
1 pallor 31 HP:0000980
2 reduced visual acuity 31 HP:0007663
3 nephronophthisis 31 HP:0000090
4 pancreatic cysts 31 HP:0001737
5 macular atrophy 31 HP:0007401
6 hepatic cysts 31 HP:0001407
7 vascular dilatation 31 HP:0002617

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Genitourinary Kidneys:
nephronophthisis
large exophytic cysts

Abdomen Liver:
hepatic cysts
dilatation of intrahepatic bile ducts

Laboratory Abnormalities:
normal blood biochemistry
normal urinalysis

Abdomen Pancreas:
pancreatic cysts

Head And Neck Eyes:
decreased visual acuity
markedly constricted visual field
bone-spicule appearance in periphery
severely attenuated vessels
slight temporal pallor of optic discs
more
Neurologic Central Nervous System:
mild cognitive impairment

Clinical features from OMIM®:

616307 (Updated 05-Mar-2021)

Drugs & Therapeutics for Senior-Loken Syndrome 8

Search Clinical Trials , NIH Clinical Center for Senior-Loken Syndrome 8

Genetic Tests for Senior-Loken Syndrome 8

Genetic tests related to Senior-Loken Syndrome 8:

# Genetic test Affiliating Genes
1 Senior-Loken Syndrome 8 29 WDR19

Anatomical Context for Senior-Loken Syndrome 8

MalaCards organs/tissues related to Senior-Loken Syndrome 8:

40
Eye, Bone

Publications for Senior-Loken Syndrome 8

Articles related to Senior-Loken Syndrome 8:

# Title Authors PMID Year
1
Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy. 57 6
23559409 2013
2
WDR19: an ancient, retrograde, intraflagellar ciliary protein is mutated in autosomal recessive retinitis pigmentosa and in Senior-Loken syndrome. 57 6
23683095 2013
3
Ciliopathies with skeletal anomalies and renal insufficiency due to mutations in the IFT-A gene WDR19. 6
22019273 2011

Variations for Senior-Loken Syndrome 8

ClinVar genetic disease variations for Senior-Loken Syndrome 8:

6 (show top 50) (show all 145)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 WDR19 NM_025132.4(WDR19):c.3565+1G>A SNV Pathogenic 127159 rs587777352 4:39274682-39274682 4:39273062-39273062
2 WDR19 NM_025132.4(WDR19):c.2129T>C (p.Leu710Ser) SNV Pathogenic 30703 rs387906980 4:39233563-39233563 4:39231943-39231943
3 WDR19 NM_025132.4(WDR19):c.203T>A (p.Val68Asp) SNV Pathogenic 189379 rs786204852 4:39191314-39191314 4:39189694-39189694
4 WDR19 NM_025132.4(WDR19):c.407-2A>G SNV Pathogenic 189380 rs374400438 4:39201096-39201096 4:39199476-39199476
5 WDR19 NM_025132.4(WDR19):c.641dup (p.Leu214fs) Duplication Pathogenic 127154 rs587777348 4:39206803-39206804 4:39205183-39205184
6 WDR19 NM_025132.4(WDR19):c.1477G>C (p.Asp493His) SNV Pathogenic 127155 rs587777349 4:39219723-39219723 4:39218103-39218103
7 WDR19 NM_025132.4(WDR19):c.1080del (p.Ile361fs) Deletion Pathogenic 542761 rs1553907440 4:39217578-39217578 4:39215958-39215958
8 WDR19 NM_025132.4(WDR19):c.3533G>A (p.Arg1178Gln) SNV Pathogenic 127158 rs79436363 4:39274649-39274649 4:39273029-39273029
9 WDR19 NM_025132.4(WDR19):c.781dup (p.Thr261fs) Duplication Pathogenic 446634 rs748656635 4:39207246-39207247 4:39205626-39205627
10 WDR19 NM_025132.4(WDR19):c.3533G>A (p.Arg1178Gln) SNV Pathogenic 127158 rs79436363 4:39274649-39274649 4:39273029-39273029
11 WDR19 NM_025132.4(WDR19):c.2129T>C (p.Leu710Ser) SNV Pathogenic 30703 rs387906980 4:39233563-39233563 4:39231943-39231943
12 WDR19 NM_025132.4(WDR19):c.3565+1G>A SNV Pathogenic 127159 rs587777352 4:39274682-39274682 4:39273062-39273062
13 WDR19 NM_025132.4(WDR19):c.781dup (p.Thr261fs) Duplication Pathogenic 446634 rs748656635 4:39207246-39207247 4:39205626-39205627
14 WDR19 NM_025132.4(WDR19):c.275T>G (p.Leu92Ter) SNV Pathogenic 961687 4:39191386-39191386 4:39189766-39189766
15 WDR19 NM_025132.4(WDR19):c.3112C>T (p.Arg1038Ter) SNV Pathogenic 632440 rs748174246 4:39257578-39257578 4:39255958-39255958
16 WDR19 NM_025132.4(WDR19):c.3703G>A (p.Glu1235Lys) SNV Likely pathogenic 127157 rs587777351 4:39276565-39276565 4:39274945-39274945
17 WDR19 NM_025132.4(WDR19):c.716+2del Deletion Likely pathogenic 941323 4:39206888-39206888 4:39205268-39205268
18 WDR19 NM_025132.4(WDR19):c.2363+1G>A SNV Likely pathogenic 280765 rs886041912 4:39236496-39236496 4:39234876-39234876
19 WDR19 NM_025132.4(WDR19):c.2741C>A (p.Ala914Asp) SNV Likely pathogenic 974371 4:39254777-39254777 4:39253157-39253157
20 WDR19 NM_025132.4(WDR19):c.1434C>G (p.Ile478Met) SNV Likely pathogenic 266105 rs886039814 4:39219680-39219680 4:39218060-39218060
21 WDR19 NM_025132.4(WDR19):c.961+2T>C SNV Likely pathogenic 841262 4:39216293-39216293 4:39214673-39214673
22 WDR19 NM_025132.4(WDR19):c.1982+2T>C SNV Likely pathogenic 568100 rs780847651 4:39230312-39230312 4:39228692-39228692
23 WDR19 NM_025132.4(WDR19):c.929A>G (p.Tyr310Cys) SNV Uncertain significance 348727 rs199783864 4:39216259-39216259 4:39214639-39214639
24 WDR19 NM_025132.4(WDR19):c.959A>T (p.Lys320Ile) SNV Uncertain significance 640349 rs1577897014 4:39216289-39216289 4:39214669-39214669
25 WDR19 NM_025132.4(WDR19):c.3160G>T (p.Ala1054Ser) SNV Uncertain significance 646892 rs756862143 4:39259151-39259151 4:39257531-39257531
26 WDR19 NM_025132.4(WDR19):c.2003T>C (p.Met668Thr) SNV Uncertain significance 654947 rs1577943470 4:39233437-39233437 4:39231817-39231817
27 WDR19 NM_025132.4(WDR19):c.3936C>T (p.Ser1312=) SNV Uncertain significance 660111 rs200255703 4:39280177-39280177 4:39278557-39278557
28 WDR19 NM_025132.4(WDR19):c.3533G>A (p.Arg1178Gln) SNV Uncertain significance 127158 rs79436363 4:39274649-39274649 4:39273029-39273029
29 WDR19 NM_025132.4(WDR19):c.3383T>C (p.Val1128Ala) SNV Uncertain significance 476157 rs372799054 4:39271620-39271620 4:39270000-39270000
30 WDR19 NM_025132.4(WDR19):c.523-3T>C SNV Uncertain significance 348725 rs747603843 4:39205259-39205259 4:39203639-39203639
31 WDR19 NM_025132.4(WDR19):c.3784G>A (p.Glu1262Lys) SNV Uncertain significance 476158 rs1553919125 4:39278707-39278707 4:39277087-39277087
32 WDR19 NM_025132.4(WDR19):c.3808T>A (p.Cys1270Ser) SNV Uncertain significance 542762 rs1035768119 4:39278731-39278731 4:39277111-39277111
33 WDR19 NM_025132.4(WDR19):c.2945A>G (p.Glu982Gly) SNV Uncertain significance 842194 4:39255594-39255594 4:39253974-39253974
34 WDR19 NM_025132.4(WDR19):c.490G>A (p.Val164Ile) SNV Uncertain significance 811687 rs199514431 4:39201181-39201181 4:39199561-39199561
35 WDR19 NM_025132.4(WDR19):c.2324C>G (p.Pro775Arg) SNV Uncertain significance 842444 4:39236456-39236456 4:39234836-39234836
36 WDR19 NM_025132.4(WDR19):c.3788G>A (p.Cys1263Tyr) SNV Uncertain significance 836435 4:39278711-39278711 4:39277091-39277091
37 WDR19 NM_025132.4(WDR19):c.1796C>T (p.Ala599Val) SNV Uncertain significance 836791 4:39230124-39230124 4:39228504-39228504
38 WDR19 NM_025132.4(WDR19):c.2710G>A (p.Ala904Thr) SNV Uncertain significance 845048 4:39247053-39247053 4:39245433-39245433
39 WDR19 NM_025132.4(WDR19):c.906C>G (p.Asp302Glu) SNV Uncertain significance 846681 4:39216236-39216236 4:39214616-39214616
40 WDR19 NM_025132.4(WDR19):c.1064A>T (p.Asp355Val) SNV Uncertain significance 348729 rs192495145 4:39217563-39217563 4:39215943-39215943
41 WDR19 NM_025132.4(WDR19):c.1535G>A (p.Arg512Gln) SNV Uncertain significance 848468 4:39226559-39226559 4:39224939-39224939
42 WDR19 NM_025132.4(WDR19):c.3146C>T (p.Ser1049Leu) SNV Uncertain significance 848571 4:39259137-39259137 4:39257517-39257517
43 WDR19 NM_025132.4(WDR19):c.2329A>G (p.Ile777Val) SNV Uncertain significance 809632 rs373737104 4:39236461-39236461 4:39234841-39234841
44 WDR19 NM_025132.4(WDR19):c.3253A>C (p.Met1085Leu) SNV Uncertain significance 849765 4:39267752-39267752 4:39266132-39266132
45 WDR19 NM_025132.4(WDR19):c.2292A>T (p.Gln764His) SNV Uncertain significance 850514 4:39236424-39236424 4:39234804-39234804
46 WDR19 NM_025132.4(WDR19):c.1734T>A (p.Asp578Glu) SNV Uncertain significance 851650 4:39229934-39229934 4:39228314-39228314
47 WDR19 NM_025132.4(WDR19):c.2312C>T (p.Pro771Leu) SNV Uncertain significance 853049 4:39236444-39236444 4:39234824-39234824
48 WDR19 NM_025132.4(WDR19):c.3470A>G (p.Tyr1157Cys) SNV Uncertain significance 853680 4:39271707-39271707 4:39270087-39270087
49 WDR19 NM_025132.4(WDR19):c.2362G>A (p.Ala788Thr) SNV Uncertain significance 855226 4:39236494-39236494 4:39234874-39234874
50 WDR19 NM_025132.4(WDR19):c.2977A>G (p.Met993Val) SNV Uncertain significance 855490 4:39255626-39255626 4:39254006-39254006

UniProtKB/Swiss-Prot genetic disease variations for Senior-Loken Syndrome 8:

73
# Symbol AA change Variation ID SNP ID
1 WDR19 p.Leu710Ser VAR_067314 rs387906980
2 WDR19 p.Ala30Pro VAR_073673 rs776967770
3 WDR19 p.Val68Asp VAR_073674 rs786204852
4 WDR19 p.Gly109Glu VAR_073675 rs766029437
5 WDR19 p.Arg272Cys VAR_073676 rs199812132
6 WDR19 p.Asp493His VAR_073677 rs587777349
7 WDR19 p.Arg1178Gln VAR_073678 rs79436363
8 WDR19 p.Glu1235Lys VAR_073679 rs587777351

Expression for Senior-Loken Syndrome 8

Search GEO for disease gene expression data for Senior-Loken Syndrome 8.

Pathways for Senior-Loken Syndrome 8

GO Terms for Senior-Loken Syndrome 8

Sources for Senior-Loken Syndrome 8

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-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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