MCID: SNR016
MIFTS: 21

Senior-Loken Syndrome 9

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

Aliases & Classifications for Senior-Loken Syndrome 9

MalaCards integrated aliases for Senior-Loken Syndrome 9:

Name: Senior-Loken Syndrome 9 57 75 29 6
Slsn9 57 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset in early childhood


HPO:

32
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)

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 liver, kidney and eye, and related phenotypes are nephronophthisis and hypogonadism

UniProtKB/Swiss-Prot : 75 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

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
nystagmus
strabismus
macular degeneration
retinal dystrophy
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

Human phenotypes related to Senior-Loken Syndrome 9:

32 (show all 14)
# Description HPO Frequency HPO Source Accession
1 nephronophthisis 32 HP:0000090
2 hypogonadism 32 occasional (7.5%) HP:0000135
3 strabismus 32 HP:0000486
4 rod-cone dystrophy 32 HP:0000510
5 macular degeneration 32 HP:0000608
6 nystagmus 32 HP:0000639
7 global developmental delay 32 occasional (7.5%) HP:0001263
8 hepatic fibrosis 32 occasional (7.5%) HP:0001395
9 cholestasis 32 occasional (7.5%) HP:0001396
10 obesity 32 occasional (7.5%) HP:0001513
11 tubulointerstitial nephritis 32 HP:0001970
12 stage 5 chronic kidney disease 32 HP:0003774
13 hypoplasia of the femoral head 32 occasional (7.5%) HP:0008802
14 polydactyly 32 occasional (7.5%) HP:0010442

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:

41
Liver, Kidney, Eye

Publications for Senior-Loken Syndrome 9

Variations for Senior-Loken Syndrome 9

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

75
# 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

ClinVar genetic disease variations for Senior-Loken Syndrome 9:

6
(show all 12)
# Gene Variation Type Significance SNP ID Assembly Location
1 TRAF3IP1 NM_015650.3(TRAF3IP1): c.374T> C (p.Val125Ala) single nucleotide variant Pathogenic rs886037896 GRCh37 Chromosome 2, 239237346: 239237346
2 TRAF3IP1 NM_015650.3(TRAF3IP1): c.374T> C (p.Val125Ala) single nucleotide variant Pathogenic rs886037896 GRCh38 Chromosome 2, 238328705: 238328705
3 TRAF3IP1 NM_015650.3(TRAF3IP1): c.463C> T (p.Arg155Ter) single nucleotide variant Pathogenic rs765903345 GRCh37 Chromosome 2, 239237435: 239237435
4 TRAF3IP1 NM_015650.3(TRAF3IP1): c.463C> T (p.Arg155Ter) single nucleotide variant Pathogenic rs765903345 GRCh38 Chromosome 2, 238328794: 238328794
5 TRAF3IP1 NM_015650.3(TRAF3IP1): c.1559T> G (p.Met520Arg) single nucleotide variant Pathogenic rs750055952 GRCh37 Chromosome 2, 239261575: 239261575
6 TRAF3IP1 NM_015650.3(TRAF3IP1): c.1559T> G (p.Met520Arg) single nucleotide variant Pathogenic rs750055952 GRCh38 Chromosome 2, 238352934: 238352934
7 TRAF3IP1 NM_015650.3(TRAF3IP1): c.1575+6T> G single nucleotide variant Pathogenic rs886037897 GRCh37 Chromosome 2, 239261597: 239261597
8 TRAF3IP1 NM_015650.3(TRAF3IP1): c.1575+6T> G single nucleotide variant Pathogenic rs886037897 GRCh38 Chromosome 2, 238352956: 238352956
9 TRAF3IP1 NM_015650.3(TRAF3IP1): c.373G> A (p.Val125Met) single nucleotide variant Pathogenic rs886037898 GRCh37 Chromosome 2, 239237345: 239237345
10 TRAF3IP1 NM_015650.3(TRAF3IP1): c.373G> A (p.Val125Met) single nucleotide variant Pathogenic rs886037898 GRCh38 Chromosome 2, 238328704: 238328704
11 TRAF3IP1 NM_015650.3(TRAF3IP1): c.51T> G (p.Ile17Met) single nucleotide variant Pathogenic rs886037899 GRCh37 Chromosome 2, 239229354: 239229354
12 TRAF3IP1 NM_015650.3(TRAF3IP1): c.51T> G (p.Ile17Met) single nucleotide variant Pathogenic rs886037899 GRCh38 Chromosome 2, 238320713: 238320713

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 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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