SLSN9
MCID: SNR016
MIFTS: 24

Senior-Loken Syndrome 9 (SLSN9)

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

Aliases & Classifications for Senior-Loken Syndrome 9

MalaCards integrated aliases for Senior-Loken Syndrome 9:

Name: Senior-Loken Syndrome 9 57 72 29 6
Slsn9 57 72

Characteristics:

OMIM®:

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

Miscellaneous:
onset in early childhood


HPO:

31
senior-loken syndrome 9:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Senior-Loken Syndrome 9

OMIM® : 57 Senior-Loken syndrome-9 is an autosomal recessive disorder characterized by early-onset nephronophthisis and pigmentary retinopathy. Additional more variable features can include liver defects, skeletal anomalies, and obesity (summary by Bizet et al., 2015). For a phenotypic description and a discussion of genetic heterogeneity of Senior-Loken syndrome, see 266900. (616629) (Updated 05-Apr-2021)

MalaCards based summary : Senior-Loken Syndrome 9, is also known as slsn9. An important gene associated with Senior-Loken Syndrome 9 is TRAF3IP1 (TRAF3 Interacting Protein 1). Affiliated tissues include eye, kidney and liver, and related phenotypes are global developmental delay and obesity

UniProtKB/Swiss-Prot : 72 Senior-Loken syndrome 9: 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.

Related Diseases for Senior-Loken Syndrome 9

Symptoms & Phenotypes for Senior-Loken Syndrome 9

Human phenotypes related to Senior-Loken Syndrome 9:

31 (show all 14)
# Description HPO Frequency HPO Source Accession
1 global developmental delay 31 occasional (7.5%) HP:0001263
2 obesity 31 occasional (7.5%) HP:0001513
3 hepatic fibrosis 31 occasional (7.5%) HP:0001395
4 cholestasis 31 occasional (7.5%) HP:0001396
5 hypogonadism 31 occasional (7.5%) HP:0000135
6 polydactyly 31 occasional (7.5%) HP:0010442
7 hypoplasia of the femoral head 31 occasional (7.5%) HP:0008802
8 nystagmus 31 HP:0000639
9 strabismus 31 HP:0000486
10 rod-cone dystrophy 31 HP:0000510
11 nephronophthisis 31 HP:0000090
12 macular degeneration 31 HP:0000608
13 tubulointerstitial nephritis 31 HP:0001970
14 stage 5 chronic kidney disease 31 HP:0003774

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Eyes:
nystagmus
strabismus
retinal dystrophy
macular degeneration
retinitis pigmentosa

Skeletal Hands:
polydactyly (in some patients)
microdactyly (in some patients)

Growth Weight:
obesity (in some patients)

Abdomen Liver:
cholestasis (in some patients)
liver defects (in some patients)
hepatic fibrosis (in some patients)

Genitourinary Kidneys:
nephronophthisis
tubulointerstitial nephritis
interstitial fibrosis
end-stage renal disease
thickening of the basement membrane
more
Genitourinary External Genitalia Male:
hypogonadism (in some patients)

Neurologic Central Nervous System:
delayed development (1 family)

Skeletal Limbs:
small femoral heads (in some patients)

Clinical features from OMIM®:

616629 (Updated 05-Apr-2021)

Drugs & Therapeutics for Senior-Loken Syndrome 9

Search Clinical Trials , NIH Clinical Center for Senior-Loken Syndrome 9

Genetic Tests for Senior-Loken Syndrome 9

Genetic tests related to Senior-Loken Syndrome 9:

# Genetic test Affiliating Genes
1 Senior-Loken Syndrome 9 29 TRAF3IP1

Anatomical Context for Senior-Loken Syndrome 9

MalaCards organs/tissues related to Senior-Loken Syndrome 9:

40
Eye, Kidney, Liver

Publications for Senior-Loken Syndrome 9

Articles related to Senior-Loken Syndrome 9:

# Title Authors PMID Year
1
Mutations in TRAF3IP1/IFT54 reveal a new role for IFT proteins in microtubule stabilization. 6 57
26487268 2015
2
Mutations in Traf3ip1 reveal defects in ciliogenesis, embryonic development, and altered cell size regulation. 57
21945076 2011
3
Elipsa is an early determinant of ciliogenesis that links the IFT particle to membrane-associated small GTPase Rab8. 57
18364699 2008

Variations for Senior-Loken Syndrome 9

ClinVar genetic disease variations for Senior-Loken Syndrome 9:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TRAF3IP1 NM_015650.4(TRAF3IP1):c.1575+6T>G SNV Pathogenic 254148 rs886037897 GRCh37: 2:239261597-239261597
GRCh38: 2:238352956-238352956
2 TRAF3IP1 NM_015650.4(TRAF3IP1):c.374T>C (p.Val125Ala) SNV Pathogenic 254145 rs886037896 GRCh37: 2:239237346-239237346
GRCh38: 2:238328705-238328705
3 TRAF3IP1 NM_015650.4(TRAF3IP1):c.373G>A (p.Val125Met) SNV Pathogenic 254149 rs886037898 GRCh37: 2:239237345-239237345
GRCh38: 2:238328704-238328704
4 TRAF3IP1 NM_015650.4(TRAF3IP1):c.463C>T (p.Arg155Ter) SNV Pathogenic 254146 rs765903345 GRCh37: 2:239237435-239237435
GRCh38: 2:238328794-238328794
5 TRAF3IP1 NM_015650.4(TRAF3IP1):c.1559T>G (p.Met520Arg) SNV Pathogenic 254147 rs750055952 GRCh37: 2:239261575-239261575
GRCh38: 2:238352934-238352934
6 TRAF3IP1 NM_015650.4(TRAF3IP1):c.51T>G (p.Ile17Met) SNV Pathogenic 254150 rs886037899 GRCh37: 2:239229354-239229354
GRCh38: 2:238320713-238320713
7 TRAF3IP1 NM_015650.4(TRAF3IP1):c.152G>A (p.Gly51Asp) SNV Uncertain significance 1027992 GRCh37: 2:239233975-239233975
GRCh38: 2:238325334-238325334

UniProtKB/Swiss-Prot genetic disease variations for Senior-Loken Syndrome 9:

72
# Symbol AA change Variation ID SNP ID
1 TRAF3IP1 p.Ile17Ser VAR_075068
2 TRAF3IP1 p.Val125Ala VAR_075069 rs886037896
3 TRAF3IP1 p.Val125Met VAR_075070 rs886037898
4 TRAF3IP1 p.Met520Arg VAR_075071 rs750055952

Expression for Senior-Loken Syndrome 9

Search GEO for disease gene expression data for Senior-Loken Syndrome 9.

Pathways for Senior-Loken Syndrome 9

GO Terms for Senior-Loken Syndrome 9

Sources for Senior-Loken Syndrome 9

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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