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 57 74 29 6
Slsn8 57 74
Senior-Loken Syndrome, Type 8 40

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
senior-loken syndrome 8:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Summaries for Senior-Loken Syndrome 8

UniProtKB/Swiss-Prot : 74 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 kidney, 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:

32 (show all 7)
# Description HPO Frequency HPO Source Accession
1 pallor 32 HP:0000980
2 reduced visual acuity 32 HP:0007663
3 pancreatic cysts 32 HP:0001737
4 hepatic cysts 32 HP:0001407
5 nephronophthisis 32 HP:0000090
6 macular atrophy 32 HP:0007401
7 dilatation 32 HP:0002617

Symptoms via clinical synopsis from OMIM:

57
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:

41
Kidney, 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. 8 71
23559409 2013
2
WDR19: an ancient, retrograde, intraflagellar ciliary protein is mutated in autosomal recessive retinitis pigmentosa and in Senior-Loken syndrome. 8 71
23683095 2013
3
Ciliopathies with skeletal anomalies and renal insufficiency due to mutations in the IFT-A gene WDR19. 71
22019273 2011

Variations for Senior-Loken Syndrome 8

ClinVar genetic disease variations for Senior-Loken Syndrome 8:

6 (show all 27)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 WDR19 NM_025132.4(WDR19): c.1080del (p.Ile361fs) deletion Pathogenic rs1553907440 4:39217579-39217579 4:39215959-39215959
2 WDR19 NM_025132.4(WDR19): c.2129T> C (p.Leu710Ser) single nucleotide variant Pathogenic rs387906980 4:39233563-39233563 4:39231943-39231943
3 WDR19 NM_025132.4(WDR19): c.641dup (p.Leu214fs) duplication Pathogenic rs587777348 4:39206811-39206811 4:39205191-39205191
4 WDR19 NM_025132.4(WDR19): c.1477G> C (p.Asp493His) single nucleotide variant Pathogenic rs587777349 4:39219723-39219723 4:39218103-39218103
5 WDR19 NM_025132.4(WDR19): c.3565+1G> A single nucleotide variant Pathogenic rs587777352 4:39274682-39274682 4:39273062-39273062
6 WDR19 NM_025132.4(WDR19): c.203T> A (p.Val68Asp) single nucleotide variant Pathogenic rs786204852 4:39191314-39191314 4:39189694-39189694
7 WDR19 NM_025132.4(WDR19): c.407-2A> G single nucleotide variant Pathogenic rs374400438 4:39201096-39201096 4:39199476-39199476
8 WDR19 NM_025132.4(WDR19): c.1982+2T> C single nucleotide variant Likely pathogenic 4:39230312-39230312 4:39228692-39228692
9 WDR19 NM_025132.4(WDR19): c.1595T> C (p.Ile532Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs749672769 4:39226619-39226619 4:39224999-39224999
10 WDR19 NM_025132.4(WDR19): c.2792A> C (p.Tyr931Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs187546086 4:39254828-39254828 4:39253208-39253208
11 WDR19 NM_025132.4(WDR19): c.3533G> A (p.Arg1178Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs79436363 4:39274649-39274649 4:39273029-39273029
12 WDR19 NM_025132.4(WDR19): c.3784G> A (p.Glu1262Lys) single nucleotide variant Uncertain significance rs1553919125 4:39278707-39278707 4:39277087-39277087
13 WDR19 NM_025132.4(WDR19): c.3383T> C (p.Val1128Ala) single nucleotide variant Uncertain significance rs372799054 4:39271620-39271620 4:39270000-39270000
14 WDR19 NM_025132.4(WDR19): c.3808T> A (p.Cys1270Ser) single nucleotide variant Uncertain significance rs1035768119 4:39278731-39278731 4:39277111-39277111
15 WDR19 NM_025132.4(WDR19): c.523-3T> C single nucleotide variant Uncertain significance rs747603843 4:39205259-39205259 4:39203639-39203639
16 WDR19 NM_025132.4(WDR19): c.929A> G (p.Tyr310Cys) single nucleotide variant Uncertain significance rs199783864 4:39216259-39216259 4:39214639-39214639
17 WDR19 NM_025132.4(WDR19): c.959A> T (p.Lys320Ile) single nucleotide variant Uncertain significance 4:39216289-39216289 4:39214669-39214669
18 WDR19 NM_025132.4(WDR19): c.2003T> C (p.Met668Thr) single nucleotide variant Uncertain significance 4:39233437-39233437 4:39231817-39231817
19 WDR19 NM_025132.4(WDR19): c.3160G> T (p.Ala1054Ser) single nucleotide variant Uncertain significance 4:39259151-39259151 4:39257531-39257531
20 WDR19 NM_025132.4(WDR19): c.3936C> T (p.Ser1312=) single nucleotide variant Uncertain significance 4:39280177-39280177 4:39278557-39278557
21 WDR19 NM_025132.4(WDR19): c.3966C> T (p.Asn1322=) single nucleotide variant Likely benign rs767906377 4:39280207-39280207 4:39278587-39278587
22 WDR19 NM_025132.4(WDR19): c.2239A> G (p.Ile747Val) single nucleotide variant Likely benign rs144335584 4:39233878-39233878 4:39232258-39232258
23 WDR19 NM_025132.4(WDR19): c.910G> A (p.Val304Ile) single nucleotide variant Benign/Likely benign rs75964850 4:39216240-39216240 4:39214620-39214620
24 WDR19 NM_025132.4(WDR19): c.1357-10T> C single nucleotide variant Benign/Likely benign rs16995189 4:39219593-39219593 4:39217973-39217973
25 WDR19 NM_025132.4(WDR19): c.1915A> G (p.Ser639Gly) single nucleotide variant Benign/Likely benign rs150649460 4:39230243-39230243 4:39228623-39228623
26 WDR19 NM_025132.4(WDR19): c.3250G> A (p.Gly1084Ser) single nucleotide variant Benign/Likely benign rs16995209 4:39267749-39267749 4:39266129-39266129
27 WDR19 NM_025132.4(WDR19): c.2096G> A (p.Arg699Gln) single nucleotide variant Benign rs138529452 4:39233530-39233530 4:39231910-39231910

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

74
# 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 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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