SLSN7
MCID: SNR007
MIFTS: 20

Senior-Loken Syndrome 7 (SLSN7)

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

Aliases & Classifications for Senior-Loken Syndrome 7

MalaCards integrated aliases for Senior-Loken Syndrome 7:

Name: Senior-Loken Syndrome 7 58 76 30 13 6 74
Slsn7 58 76
Senior-Loken Syndrome, Type 7 41

Characteristics:

HPO:

33
senior-loken syndrome 7:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 58 613615
MedGen 43 C3150877
SNOMED-CT via HPO 70 204958008 258211005 95695004
UMLS 74 C3150877

Summaries for Senior-Loken Syndrome 7

UniProtKB/Swiss-Prot : 76 Senior-Loken syndrome 7: 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 7, also known as slsn7, is related to bardet-biedl syndrome 16 and bardet-biedl syndrome. An important gene associated with Senior-Loken Syndrome 7 is SDCCAG8 (Serologically Defined Colon Cancer Antigen 8). Affiliated tissues include kidney and eye, and related phenotypes are nephronophthisis and retinal degeneration

Description from OMIM: 613615

Related Diseases for Senior-Loken Syndrome 7

Diseases in the Senior-Loken Syndrome 1 family:

Senior-Loken Syndrome 3 Senior-Loken Syndrome 4
Senior-Loken Syndrome 5 Senior-Loken Syndrome 6
Senior-Loken Syndrome 7 Senior-Loken Syndrome 8
Senior-Loken Syndrome 9

Diseases related to Senior-Loken Syndrome 7 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 bardet-biedl syndrome 16 9.3 AKT3 MIR4677 SDCCAG8
2 bardet-biedl syndrome 9.3 AKT3 MIR4677 SDCCAG8
3 retinal aplasia 9.1 AKT3 MIR4677 SDCCAG8

Symptoms & Phenotypes for Senior-Loken Syndrome 7

Human phenotypes related to Senior-Loken Syndrome 7:

33
# Description HPO Frequency HPO Source Accession
1 nephronophthisis 33 HP:0000090
2 retinal degeneration 33 HP:0000546

Clinical features from OMIM:

613615

Drugs & Therapeutics for Senior-Loken Syndrome 7

Search Clinical Trials , NIH Clinical Center for Senior-Loken Syndrome 7

Genetic Tests for Senior-Loken Syndrome 7

Genetic tests related to Senior-Loken Syndrome 7:

# Genetic test Affiliating Genes
1 Senior-Loken Syndrome 7 30 SDCCAG8

Anatomical Context for Senior-Loken Syndrome 7

MalaCards organs/tissues related to Senior-Loken Syndrome 7:

42
Kidney, Eye

Publications for Senior-Loken Syndrome 7

Variations for Senior-Loken Syndrome 7

ClinVar genetic disease variations for Senior-Loken Syndrome 7:

6 (show all 44)
# Gene Variation Type Significance SNP ID Assembly Location
1 SDCCAG8 NM_006642.4(SDCCAG8): c.1409A> G (p.Glu470Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs118064970 GRCh37 Chromosome 1, 243507569: 243507569
2 SDCCAG8 NM_006642.4(SDCCAG8): c.1409A> G (p.Glu470Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs118064970 GRCh38 Chromosome 1, 243344267: 243344267
3 SDCCAG8 NM_006642.4(SDCCAG8): c.1094G> A (p.Arg365Lys) single nucleotide variant Likely benign rs115098969 GRCh37 Chromosome 1, 243493867: 243493867
4 SDCCAG8 NM_006642.4(SDCCAG8): c.1094G> A (p.Arg365Lys) single nucleotide variant Likely benign rs115098969 GRCh38 Chromosome 1, 243330565: 243330565
5 SDCCAG8 NM_006642.3(SDCCAG8): c.221-2A> G single nucleotide variant Pathogenic rs797045946 GRCh37 Chromosome 1, 243434278: 243434278
6 SDCCAG8 NM_006642.3(SDCCAG8): c.221-2A> G single nucleotide variant Pathogenic rs797045946 GRCh38 Chromosome 1, 243270976: 243270976
7 SDCCAG8 NM_006642.4(SDCCAG8): c.481C> T (p.Gln161Ter) single nucleotide variant Pathogenic rs797045947 GRCh38 Chromosome 1, 243286332: 243286332
8 SDCCAG8 NM_006642.4(SDCCAG8): c.481C> T (p.Gln161Ter) single nucleotide variant Pathogenic rs797045947 GRCh37 Chromosome 1, 243449634: 243449634
9 SDCCAG8 NM_006642.4(SDCCAG8): c.567G> A (p.Trp189Ter) single nucleotide variant Pathogenic rs797045948 GRCh37 Chromosome 1, 243456413: 243456413
10 SDCCAG8 NM_006642.4(SDCCAG8): c.567G> A (p.Trp189Ter) single nucleotide variant Pathogenic rs797045948 GRCh38 Chromosome 1, 243293111: 243293111
11 SDCCAG8 NM_006642.4(SDCCAG8): c.1420delG (p.Glu474Serfs) deletion Pathogenic rs397515335 GRCh37 Chromosome 1, 243507580: 243507580
12 SDCCAG8 NM_006642.4(SDCCAG8): c.1420delG (p.Glu474Serfs) deletion Pathogenic rs397515335 GRCh38 Chromosome 1, 243344278: 243344278
13 SDCCAG8 NM_006642.4(SDCCAG8): c.1339dup (p.Glu447Glyfs) duplication Pathogenic rs387906218 GRCh37 Chromosome 1, 243504458: 243504458
14 SDCCAG8 NM_006642.4(SDCCAG8): c.1339dup (p.Glu447Glyfs) duplication Pathogenic rs387906218 GRCh38 Chromosome 1, 243341156: 243341156
15 SDCCAG8 NM_006642.4(SDCCAG8): c.1946_1949delGTGT (p.Cys649Serfs) deletion Pathogenic rs397515336 GRCh37 Chromosome 1, 243589821: 243589824
16 SDCCAG8 NM_006642.4(SDCCAG8): c.1946_1949delGTGT (p.Cys649Serfs) deletion Pathogenic rs397515336 GRCh38 Chromosome 1, 243426519: 243426522
17 SDCCAG8 NM_006642.3(SDCCAG8): c.740+356C> T single nucleotide variant Pathogenic rs397515337 GRCh37 Chromosome 1, 243468435: 243468435
18 SDCCAG8 NM_006642.3(SDCCAG8): c.740+356C> T single nucleotide variant Pathogenic rs397515337 GRCh38 Chromosome 1, 243305133: 243305133
19 SDCCAG8 NM_006642.4(SDCCAG8): c.279G> A (p.Pro93=) single nucleotide variant Conflicting interpretations of pathogenicity rs145877279 GRCh38 Chromosome 1, 243271036: 243271036
20 SDCCAG8 NM_006642.4(SDCCAG8): c.279G> A (p.Pro93=) single nucleotide variant Conflicting interpretations of pathogenicity rs145877279 GRCh37 Chromosome 1, 243434338: 243434338
21 SDCCAG8 NM_006642.4(SDCCAG8): c.912C> T (p.Thr304=) single nucleotide variant Benign/Likely benign rs976529 GRCh38 Chromosome 1, 243308160: 243308160
22 SDCCAG8 NM_006642.4(SDCCAG8): c.912C> T (p.Thr304=) single nucleotide variant Benign/Likely benign rs976529 GRCh37 Chromosome 1, 243471462: 243471462
23 SDCCAG8 NM_006642.4(SDCCAG8): c.1134A> T (p.Glu378Asp) single nucleotide variant Benign rs2275155 GRCh38 Chromosome 1, 243330605: 243330605
24 SDCCAG8 NM_006642.4(SDCCAG8): c.1134A> T (p.Glu378Asp) single nucleotide variant Benign rs2275155 GRCh37 Chromosome 1, 243493907: 243493907
25 SDCCAG8 NM_006642.4(SDCCAG8): c.1725G> A (p.Glu575=) single nucleotide variant Benign rs10927011 GRCh38 Chromosome 1, 243415810: 243415810
26 SDCCAG8 NM_006642.4(SDCCAG8): c.1725G> A (p.Glu575=) single nucleotide variant Benign rs10927011 GRCh37 Chromosome 1, 243579112: 243579112
27 SDCCAG8 NM_006642.4(SDCCAG8): c.237T> A (p.Asp79Glu) single nucleotide variant Uncertain significance rs146474568 GRCh38 Chromosome 1, 243270994: 243270994
28 SDCCAG8 NM_006642.4(SDCCAG8): c.237T> A (p.Asp79Glu) single nucleotide variant Uncertain significance rs146474568 GRCh37 Chromosome 1, 243434296: 243434296
29 SDCCAG8 NM_006642.4(SDCCAG8): c.778C> G (p.Leu260Val) single nucleotide variant Uncertain significance rs201869920 GRCh38 Chromosome 1, 243308026: 243308026
30 SDCCAG8 NM_006642.4(SDCCAG8): c.778C> G (p.Leu260Val) single nucleotide variant Uncertain significance rs201869920 GRCh37 Chromosome 1, 243471328: 243471328
31 SDCCAG8 NM_006642.4(SDCCAG8): c.1094G> C (p.Arg365Thr) single nucleotide variant Benign/Likely benign rs115098969 GRCh38 Chromosome 1, 243330565: 243330565
32 SDCCAG8 NM_006642.4(SDCCAG8): c.1094G> C (p.Arg365Thr) single nucleotide variant Benign/Likely benign rs115098969 GRCh37 Chromosome 1, 243493867: 243493867
33 SDCCAG8 NM_006642.4(SDCCAG8): c.916G> A (p.Glu306Lys) single nucleotide variant Uncertain significance rs777002036 GRCh37 Chromosome 1, 243471466: 243471466
34 SDCCAG8 NM_006642.4(SDCCAG8): c.916G> A (p.Glu306Lys) single nucleotide variant Uncertain significance rs777002036 GRCh38 Chromosome 1, 243308164: 243308164
35 SDCCAG8 NM_006642.4(SDCCAG8): c.2067G> A (p.Leu689=) single nucleotide variant Benign rs191821211 GRCh37 Chromosome 1, 243652397: 243652397
36 SDCCAG8 NM_006642.4(SDCCAG8): c.2067G> A (p.Leu689=) single nucleotide variant Benign rs191821211 GRCh38 Chromosome 1, 243489095: 243489095
37 SDCCAG8 NM_006642.4(SDCCAG8): c.518T> C (p.Leu173Pro) single nucleotide variant Uncertain significance rs541533278 GRCh37 Chromosome 1, 243449671: 243449671
38 SDCCAG8 NM_006642.4(SDCCAG8): c.518T> C (p.Leu173Pro) single nucleotide variant Uncertain significance rs541533278 GRCh38 Chromosome 1, 243286369: 243286369
39 SDCCAG8 NM_006642.4(SDCCAG8): c.799A> T (p.Lys267Ter) single nucleotide variant Uncertain significance GRCh38 Chromosome 1, 243308047: 243308047
40 SDCCAG8 NM_006642.4(SDCCAG8): c.799A> T (p.Lys267Ter) single nucleotide variant Uncertain significance GRCh37 Chromosome 1, 243471349: 243471349
41 SDCCAG8 NM_006642.4(SDCCAG8): c.546+1G> A single nucleotide variant Likely pathogenic GRCh38 Chromosome 1, 243286398: 243286398
42 SDCCAG8 NM_006642.4(SDCCAG8): c.546+1G> A single nucleotide variant Likely pathogenic GRCh37 Chromosome 1, 243449700: 243449700
43 SDCCAG8 NM_006642.3: c.1575delA deletion Likely pathogenic GRCh38 Chromosome 1, 243378822: 243378822
44 SDCCAG8 NM_006642.3: c.1575delA deletion Likely pathogenic GRCh37 Chromosome 1, 243542124: 243542124

Expression for Senior-Loken Syndrome 7

Search GEO for disease gene expression data for Senior-Loken Syndrome 7.

Pathways for Senior-Loken Syndrome 7

GO Terms for Senior-Loken Syndrome 7

Sources for Senior-Loken Syndrome 7

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
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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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