SLSN8
MCID: SNR015
MIFTS: 22

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 58 76 30 6
Slsn8 58 76
Senior-Loken Syndrome, Type 8 41

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive


HPO:

33
senior-loken syndrome 8:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Senior-Loken Syndrome 8

UniProtKB/Swiss-Prot : 76 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

Description from OMIM: 616307

Related Diseases for Senior-Loken Syndrome 8

Symptoms & Phenotypes for Senior-Loken Syndrome 8

Human phenotypes related to Senior-Loken Syndrome 8:

33 (show all 7)
# Description HPO Frequency HPO Source Accession
1 pallor 33 HP:0000980
2 reduced visual acuity 33 HP:0007663
3 pancreatic cysts 33 HP:0001737
4 hepatic cysts 33 HP:0001407
5 nephronophthisis 33 HP:0000090
6 macular atrophy 33 HP:0007401
7 dilatation 33 HP:0002617

Symptoms via clinical synopsis from OMIM:

58
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 30 WDR19

Anatomical Context for Senior-Loken Syndrome 8

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

42
Eye, Kidney, Bone

Publications for Senior-Loken Syndrome 8

Articles related to Senior-Loken Syndrome 8:

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

Variations for Senior-Loken Syndrome 8

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

76
# 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

ClinVar genetic disease variations for Senior-Loken Syndrome 8:

6 (show all 46)
# Gene Variation Type Significance SNP ID Assembly Location
1 WDR19 NM_001317924.1(WDR19): c.1649T> C (p.Leu550Ser) single nucleotide variant Pathogenic rs387906980 GRCh37 Chromosome 4, 39233563: 39233563
2 WDR19 NM_001317924.1(WDR19): c.1649T> C (p.Leu550Ser) single nucleotide variant Pathogenic rs387906980 GRCh38 Chromosome 4, 39231943: 39231943
3 WDR19 NM_025132.3(WDR19): c.641dupT (p.Leu214Phefs) duplication Pathogenic rs587777348 GRCh37 Chromosome 4, 39206811: 39206811
4 WDR19 NM_025132.3(WDR19): c.641dupT (p.Leu214Phefs) duplication Pathogenic rs587777348 GRCh38 Chromosome 4, 39205191: 39205191
5 WDR19 NM_025132.3(WDR19): c.1477G> C (p.Asp493His) single nucleotide variant Pathogenic rs587777349 GRCh37 Chromosome 4, 39219723: 39219723
6 WDR19 NM_025132.3(WDR19): c.1477G> C (p.Asp493His) single nucleotide variant Pathogenic rs587777349 GRCh38 Chromosome 4, 39218103: 39218103
7 WDR19 NM_025132.3(WDR19): c.3533G> A (p.Arg1178Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs79436363 GRCh37 Chromosome 4, 39274649: 39274649
8 WDR19 NM_025132.3(WDR19): c.3533G> A (p.Arg1178Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs79436363 GRCh38 Chromosome 4, 39273029: 39273029
9 WDR19 NM_025132.3(WDR19): c.3565+1G> A single nucleotide variant Pathogenic rs587777352 GRCh37 Chromosome 4, 39274682: 39274682
10 WDR19 NM_025132.3(WDR19): c.3565+1G> A single nucleotide variant Pathogenic rs587777352 GRCh38 Chromosome 4, 39273062: 39273062
11 WDR19 NM_025132.3(WDR19): c.2792A> C (p.Tyr931Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs187546086 GRCh37 Chromosome 4, 39254828: 39254828
12 WDR19 NM_025132.3(WDR19): c.2792A> C (p.Tyr931Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs187546086 GRCh38 Chromosome 4, 39253208: 39253208
13 WDR19 NM_025132.3(WDR19): c.203T> A (p.Val68Asp) single nucleotide variant Pathogenic rs786204852 GRCh37 Chromosome 4, 39191314: 39191314
14 WDR19 NM_025132.3(WDR19): c.203T> A (p.Val68Asp) single nucleotide variant Pathogenic rs786204852 GRCh38 Chromosome 4, 39189694: 39189694
15 WDR19 NM_025132.3(WDR19): c.407-2A> G single nucleotide variant Pathogenic rs374400438 GRCh37 Chromosome 4, 39201096: 39201096
16 WDR19 NM_025132.3(WDR19): c.407-2A> G single nucleotide variant Pathogenic rs374400438 GRCh38 Chromosome 4, 39199476: 39199476
17 WDR19 NM_025132.3(WDR19): c.910G> A (p.Val304Ile) single nucleotide variant Benign/Likely benign rs75964850 GRCh37 Chromosome 4, 39216240: 39216240
18 WDR19 NM_025132.3(WDR19): c.910G> A (p.Val304Ile) single nucleotide variant Benign/Likely benign rs75964850 GRCh38 Chromosome 4, 39214620: 39214620
19 WDR19 NM_025132.3(WDR19): c.1357-10T> C single nucleotide variant Benign/Likely benign rs16995189 GRCh37 Chromosome 4, 39219593: 39219593
20 WDR19 NM_025132.3(WDR19): c.1357-10T> C single nucleotide variant Benign/Likely benign rs16995189 GRCh38 Chromosome 4, 39217973: 39217973
21 WDR19 NM_025132.3(WDR19): c.1915A> G (p.Ser639Gly) single nucleotide variant Benign/Likely benign rs150649460 GRCh37 Chromosome 4, 39230243: 39230243
22 WDR19 NM_025132.3(WDR19): c.1915A> G (p.Ser639Gly) single nucleotide variant Benign/Likely benign rs150649460 GRCh38 Chromosome 4, 39228623: 39228623
23 WDR19 NM_025132.3(WDR19): c.3250G> A (p.Gly1084Ser) single nucleotide variant Benign/Likely benign rs16995209 GRCh37 Chromosome 4, 39267749: 39267749
24 WDR19 NM_025132.3(WDR19): c.3250G> A (p.Gly1084Ser) single nucleotide variant Benign/Likely benign rs16995209 GRCh38 Chromosome 4, 39266129: 39266129
25 WDR19 NM_025132.3(WDR19): c.1595T> C (p.Ile532Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs749672769 GRCh38 Chromosome 4, 39224999: 39224999
26 WDR19 NM_025132.3(WDR19): c.1595T> C (p.Ile532Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs749672769 GRCh37 Chromosome 4, 39226619: 39226619
27 WDR19 NM_025132.3(WDR19): c.523-3T> C single nucleotide variant Uncertain significance rs747603843 GRCh38 Chromosome 4, 39203639: 39203639
28 WDR19 NM_025132.3(WDR19): c.523-3T> C single nucleotide variant Uncertain significance rs747603843 GRCh37 Chromosome 4, 39205259: 39205259
29 WDR19 NM_025132.3(WDR19): c.929A> G (p.Tyr310Cys) single nucleotide variant Uncertain significance rs199783864 GRCh38 Chromosome 4, 39214639: 39214639
30 WDR19 NM_025132.3(WDR19): c.929A> G (p.Tyr310Cys) single nucleotide variant Uncertain significance rs199783864 GRCh37 Chromosome 4, 39216259: 39216259
31 WDR19 NM_025132.3(WDR19): c.2096G> A (p.Arg699Gln) single nucleotide variant Benign rs138529452 GRCh38 Chromosome 4, 39231910: 39231910
32 WDR19 NM_025132.3(WDR19): c.2096G> A (p.Arg699Gln) single nucleotide variant Benign rs138529452 GRCh37 Chromosome 4, 39233530: 39233530
33 WDR19 NM_025132.3(WDR19): c.2239A> G (p.Ile747Val) single nucleotide variant Likely benign rs144335584 GRCh37 Chromosome 4, 39233878: 39233878
34 WDR19 NM_025132.3(WDR19): c.2239A> G (p.Ile747Val) single nucleotide variant Likely benign rs144335584 GRCh38 Chromosome 4, 39232258: 39232258
35 WDR19 NM_025132.3(WDR19): c.3784G> A (p.Glu1262Lys) single nucleotide variant Uncertain significance rs1553919125 GRCh38 Chromosome 4, 39277087: 39277087
36 WDR19 NM_025132.3(WDR19): c.3784G> A (p.Glu1262Lys) single nucleotide variant Uncertain significance rs1553919125 GRCh37 Chromosome 4, 39278707: 39278707
37 WDR19 NM_025132.3(WDR19): c.3966C> T (p.Asn1322=) single nucleotide variant Likely benign rs767906377 GRCh38 Chromosome 4, 39278587: 39278587
38 WDR19 NM_025132.3(WDR19): c.3966C> T (p.Asn1322=) single nucleotide variant Likely benign rs767906377 GRCh37 Chromosome 4, 39280207: 39280207
39 WDR19 NM_025132.3(WDR19): c.3383T> C (p.Val1128Ala) single nucleotide variant Uncertain significance rs372799054 GRCh38 Chromosome 4, 39270000: 39270000
40 WDR19 NM_025132.3(WDR19): c.3383T> C (p.Val1128Ala) single nucleotide variant Uncertain significance rs372799054 GRCh37 Chromosome 4, 39271620: 39271620
41 WDR19 NM_025132.3(WDR19): c.3808T> A (p.Cys1270Ser) single nucleotide variant Uncertain significance rs1035768119 GRCh38 Chromosome 4, 39277111: 39277111
42 WDR19 NM_025132.3(WDR19): c.3808T> A (p.Cys1270Ser) single nucleotide variant Uncertain significance rs1035768119 GRCh37 Chromosome 4, 39278731: 39278731
43 WDR19 NM_025132.3(WDR19): c.1080delG (p.Ile361Leufs) deletion Pathogenic rs1553907440 GRCh37 Chromosome 4, 39217579: 39217579
44 WDR19 NM_025132.3(WDR19): c.1080delG (p.Ile361Leufs) deletion Pathogenic rs1553907440 GRCh38 Chromosome 4, 39215959: 39215959
45 WDR19 NM_025132.3(WDR19): c.1982+2T> C single nucleotide variant Likely pathogenic GRCh38 Chromosome 4, 39228692: 39228692
46 WDR19 NM_025132.3(WDR19): c.1982+2T> C single nucleotide variant Likely pathogenic GRCh37 Chromosome 4, 39230312: 39230312

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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
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35 ICD10 via Orphanet
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63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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