SLSN8
MCID: SNR015
MIFTS: 24

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 56 73 29 6
Slsn8 56 73
Senior-Loken Syndrome, Type 8 39

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive


HPO:

31
senior-loken syndrome 8:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 56 616307
OMIM Phenotypic Series 56 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, kidney 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 pancreatic cysts 31 HP:0001737
4 hepatic cysts 31 HP:0001407
5 nephronophthisis 31 HP:0000090
6 macular atrophy 31 HP:0007401
7 dilatation 31 HP:0002617

Symptoms via clinical synopsis from OMIM:

56
Abdomen Pancreas:
pancreatic cysts

Genitourinary Kidneys:
nephronophthisis
large exophytic cysts

Laboratory Abnormalities:
normal blood biochemistry
normal urinalysis

Abdomen Liver:
hepatic cysts
dilatation of intrahepatic bile ducts

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

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, Kidney, 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. 56 6
23559409 2013
2
WDR19: an ancient, retrograde, intraflagellar ciliary protein is mutated in autosomal recessive retinitis pigmentosa and in Senior-Loken syndrome. 56 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 all 23) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 WDR19 NM_025132.4(WDR19):c.203T>A (p.Val68Asp)SNV Pathogenic 189379 rs786204852 4:39191314-39191314 4:39189694-39189694
2 WDR19 NM_025132.4(WDR19):c.407-2A>GSNV Pathogenic 189380 rs374400438 4:39201096-39201096 4:39199476-39199476
3 WDR19 NM_025132.4(WDR19):c.2129T>C (p.Leu710Ser)SNV Pathogenic 30703 rs387906980 4:39233563-39233563 4:39231943-39231943
4 WDR19 NM_025132.4(WDR19):c.641dup (p.Leu214fs)duplication Pathogenic 127154 rs587777348 4:39206803-39206804 4:39205183-39205184
5 WDR19 NM_025132.4(WDR19):c.1477G>C (p.Asp493His)SNV Pathogenic 127155 rs587777349 4:39219723-39219723 4:39218103-39218103
6 WDR19 NM_025132.4(WDR19):c.3565+1G>ASNV Pathogenic 127159 rs587777352 4:39274682-39274682 4:39273062-39273062
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.1982+2T>CSNV Likely pathogenic 568100 rs780847651 4:39230312-39230312 4:39228692-39228692
9 WDR19 NM_025132.4(WDR19):c.1434C>G (p.Ile478Met)SNV Likely pathogenic 266105 rs886039814 4:39219680-39219680 4:39218060-39218060
10 WDR19 NM_025132.4(WDR19):c.3533G>A (p.Arg1178Gln)SNV Conflicting interpretations of pathogenicity 127158 rs79436363 4:39274649-39274649 4:39273029-39273029
11 WDR19 NM_025132.4(WDR19):c.781dup (p.Thr261fs)duplication Conflicting interpretations of pathogenicity 446634 rs748656635 4:39207246-39207247 4:39205626-39205627
12 WDR19 NM_025132.4(WDR19):c.3784G>A (p.Glu1262Lys)SNV Uncertain significance 476158 rs1553919125 4:39278707-39278707 4:39277087-39277087
13 WDR19 NM_025132.4(WDR19):c.3383T>C (p.Val1128Ala)SNV Uncertain significance 476157 rs372799054 4:39271620-39271620 4:39270000-39270000
14 WDR19 NM_025132.4(WDR19):c.3808T>A (p.Cys1270Ser)SNV Uncertain significance 542762 rs1035768119 4:39278731-39278731 4:39277111-39277111
15 WDR19 NM_025132.4(WDR19):c.959A>T (p.Lys320Ile)SNV Uncertain significance 640349 4:39216289-39216289 4:39214669-39214669
16 WDR19 NM_025132.4(WDR19):c.2003T>C (p.Met668Thr)SNV Uncertain significance 654947 4:39233437-39233437 4:39231817-39231817
17 WDR19 NM_025132.4(WDR19):c.3160G>T (p.Ala1054Ser)SNV Uncertain significance 646892 4:39259151-39259151 4:39257531-39257531
18 WDR19 NM_025132.4(WDR19):c.3936C>T (p.Ser1312=)SNV Uncertain significance 660111 4:39280177-39280177 4:39278557-39278557
19 WDR19 NM_025132.4(WDR19):c.523-3T>CSNV Uncertain significance 348725 rs747603843 4:39205259-39205259 4:39203639-39203639
20 WDR19 NM_025132.4(WDR19):c.929A>G (p.Tyr310Cys)SNV Uncertain significance 348727 rs199783864 4:39216259-39216259 4:39214639-39214639
21 WDR19 NM_025132.4(WDR19):c.3966C>T (p.Asn1322=)SNV Likely benign 476159 rs767906377 4:39280207-39280207 4:39278587-39278587
22 WDR19 NM_025132.4(WDR19):c.910G>A (p.Val304Ile)SNV Benign/Likely benign 261868 rs75964850 4:39216240-39216240 4:39214620-39214620
23 WDR19 NM_025132.4(WDR19):c.3250G>A (p.Gly1084Ser)SNV Benign/Likely benign 261863 rs16995209 4:39267749-39267749 4:39266129-39266129

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
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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