SLSN7
MCID: SNR007
MIFTS: 23

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 57 74 29 13 6 72
Slsn7 57 74
Senior-Loken Syndrome, Type 7 40

Characteristics:

HPO:

32
senior-loken syndrome 7:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

MedGen 42 C3150877
UMLS 72 C3150877

Summaries for Senior-Loken Syndrome 7

UniProtKB/Swiss-Prot : 74 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

More information from OMIM: 613615 PS266900

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 8.9 SDCCAG8 MIR4677 AKT3
2 bardet-biedl syndrome 8.8 SDCCAG8 MIR4677 AKT3
3 retinal aplasia 8.6 SDCCAG8 MIR4677 AKT3

Symptoms & Phenotypes for Senior-Loken Syndrome 7

Human phenotypes related to Senior-Loken Syndrome 7:

32
# Description HPO Frequency HPO Source Accession
1 nephronophthisis 32 HP:0000090
2 retinal degeneration 32 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 29 SDCCAG8

Anatomical Context for Senior-Loken Syndrome 7

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

41
Kidney, Eye

Publications for Senior-Loken Syndrome 7

Articles related to Senior-Loken Syndrome 7:

# Title Authors PMID Year
1
Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy. 8 71
20835237 2010

Variations for Senior-Loken Syndrome 7

ClinVar genetic disease variations for Senior-Loken Syndrome 7:

6 (show all 31)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 SDCCAG8 NM_006642.5(SDCCAG8): c.1420del (p.Glu474fs) deletion Pathogenic rs397515335 1:243507580-243507580 1:243344278-243344278
2 SDCCAG8 NM_006642.5(SDCCAG8): c.1339dup (p.Glu447fs) duplication Pathogenic rs387906218 1:243504458-243504458 1:243341156-243341156
3 SDCCAG8 NM_006642.5(SDCCAG8): c.1944_1945GT[1] (p.Cys649fs) short repeat Pathogenic rs397515336 1:243589821-243589824 1:243426519-243426522
4 SDCCAG8 NM_006642.5(SDCCAG8): c.740+356C> T single nucleotide variant Pathogenic rs397515337 1:243468435-243468435 1:243305133-243305133
5 SDCCAG8 NM_006642.5(SDCCAG8): c.221-2A> G single nucleotide variant Pathogenic rs797045946 1:243434278-243434278 1:243270976-243270976
6 SDCCAG8 NM_006642.5(SDCCAG8): c.481C> T (p.Gln161Ter) single nucleotide variant Pathogenic rs797045947 1:243449634-243449634 1:243286332-243286332
7 SDCCAG8 NM_006642.5(SDCCAG8): c.567G> A (p.Trp189Ter) single nucleotide variant Pathogenic rs797045948 1:243456413-243456413 1:243293111-243293111
8 SDCCAG8 NM_006642.5(SDCCAG8): c.696del (p.Thr231_Tyr232insTer) deletion Pathogenic 1:243468035-243468035 1:243304733-243304733
9 SDCCAG8 NC_000001.10: g.(?_242431558)_(244006492_?)del deletion Pathogenic 1:242431558-244006492 1:242268256-243843190
10 SDCCAG8 NM_006642.5(SDCCAG8): c.307-1G> A single nucleotide variant Likely pathogenic 1:243437844-243437844 1:243274542-243274542
11 SDCCAG8 NM_006642.5(SDCCAG8): c.546+1G> A single nucleotide variant Likely pathogenic 1:243449700-243449700 1:243286398-243286398
12 SDCCAG8 NM_006642.5(SDCCAG8): c.1575del (p.Glu526fs) deletion Likely pathogenic 1:243542124-243542124 1:243378822-243378822
13 SDCCAG8 NM_006642.5(SDCCAG8): c.279G> A (p.Pro93=) single nucleotide variant Conflicting interpretations of pathogenicity rs145877279 1:243434338-243434338 1:243271036-243271036
14 SDCCAG8 NM_006642.5(SDCCAG8): c.1409A> G (p.Glu470Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs118064970 1:243507569-243507569 1:243344267-243344267
15 SDCCAG8 NM_006642.5(SDCCAG8): c.778C> G (p.Leu260Val) single nucleotide variant Uncertain significance rs201869920 1:243471328-243471328 1:243308026-243308026
16 SDCCAG8 NM_006642.5(SDCCAG8): c.916G> A (p.Glu306Lys) single nucleotide variant Uncertain significance rs777002036 1:243471466-243471466 1:243308164-243308164
17 SDCCAG8 NM_006642.5(SDCCAG8): c.518T> C (p.Leu173Pro) single nucleotide variant Uncertain significance rs541533278 1:243449671-243449671 1:243286369-243286369
18 SDCCAG8 NM_006642.5(SDCCAG8): c.799A> T (p.Lys267Ter) single nucleotide variant Uncertain significance 1:243471349-243471349 1:243308047-243308047
19 SDCCAG8 NM_006642.5(SDCCAG8): c.237T> A (p.Asp79Glu) single nucleotide variant Uncertain significance rs146474568 1:243434296-243434296 1:243270994-243270994
20 SDCCAG8 NM_006642.5(SDCCAG8): c.572C> T (p.Thr191Ile) single nucleotide variant Uncertain significance rs150070966 1:243456418-243456418 1:243293116-243293116
21 SDCCAG8 NM_006642.5(SDCCAG8): c.1783T> G (p.Phe595Val) single nucleotide variant Uncertain significance 1:243581308-243581308 1:243418006-243418006
22 SDCCAG8 NM_006642.5(SDCCAG8): c.31G> C (p.Glu11Gln) single nucleotide variant Uncertain significance 1:243419506-243419506 1:243256204-243256204
23 SDCCAG8 NM_006642.5(SDCCAG8): c.160A> T (p.Thr54Ser) single nucleotide variant Uncertain significance 1:243433499-243433499 1:243270197-243270197
24 SDCCAG8 NM_006642.5(SDCCAG8): c.181G> T (p.Ala61Ser) single nucleotide variant Uncertain significance 1:243433520-243433520 1:243270218-243270218
25 SDCCAG8 NM_006642.5(SDCCAG8): c.1730A> C (p.Gln577Pro) single nucleotide variant Uncertain significance 1:243579117-243579117 1:243415815-243415815
26 SDCCAG8 NM_006642.5(SDCCAG8): c.1094G> A (p.Arg365Lys) single nucleotide variant Likely benign rs115098969 1:243493867-243493867 1:243330565-243330565
27 SDCCAG8 NM_006642.5(SDCCAG8): c.1094G> C (p.Arg365Thr) single nucleotide variant Benign/Likely benign rs115098969 1:243493867-243493867 1:243330565-243330565
28 SDCCAG8 NM_006642.5(SDCCAG8): c.912C> T (p.Thr304=) single nucleotide variant Benign/Likely benign rs976529 1:243471462-243471462 1:243308160-243308160
29 SDCCAG8 NM_006642.5(SDCCAG8): c.1134A> T (p.Glu378Asp) single nucleotide variant Benign rs2275155 1:243493907-243493907 1:243330605-243330605
30 SDCCAG8 NM_006642.5(SDCCAG8): c.1725G> A (p.Glu575=) single nucleotide variant Benign rs10927011 1:243579112-243579112 1:243415810-243415810
31 SDCCAG8 NM_006642.5(SDCCAG8): c.2067G> A (p.Leu689=) single nucleotide variant Benign rs191821211 1:243652397-243652397 1:243489095-243489095

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
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
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36 IUPHAR
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38 LifeMap
40 LOVD
42 MedGen
44 MeSH
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49 NCI
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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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