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 56 73 29 13 6 71
Slsn7 56 73
Senior-Loken Syndrome, Type 7 39

Characteristics:

HPO:

31
senior-loken syndrome 7:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 56 613615
OMIM Phenotypic Series 56 PS266900
MedGen 41 C3150877
SNOMED-CT via HPO 68 204958008 258211005 95695004
UMLS 71 C3150877

Summaries for Senior-Loken Syndrome 7

UniProtKB/Swiss-Prot : 73 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, is also known as slsn7. An important gene associated with Senior-Loken Syndrome 7 is SDCCAG8 (Serologically Defined Colon Cancer Antigen 8). Affiliated tissues include eye and kidney, and related phenotypes are retinal degeneration and nephronophthisis

More information from OMIM: 613615 PS266900

Related Diseases for Senior-Loken Syndrome 7

Symptoms & Phenotypes for Senior-Loken Syndrome 7

Human phenotypes related to Senior-Loken Syndrome 7:

31
# Description HPO Frequency HPO Source Accession
1 retinal degeneration 31 HP:0000546
2 nephronophthisis 31 HP:0000090

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:

40
Eye, Kidney

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. 56 6
20835237 2010

Variations for Senior-Loken Syndrome 7

ClinVar genetic disease variations for Senior-Loken Syndrome 7:

6 (show all 26) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SDCCAG8 NM_006642.5(SDCCAG8):c.221-2A>GSNV Pathogenic 212139 rs797045946 1:243434278-243434278 1:243270976-243270976
2 SDCCAG8 NM_006642.5(SDCCAG8):c.481C>T (p.Gln161Ter)SNV Pathogenic 212140 rs797045947 1:243449634-243449634 1:243286332-243286332
3 SDCCAG8 NM_006642.5(SDCCAG8):c.567G>A (p.Trp189Ter)SNV Pathogenic 212141 rs797045948 1:243456413-243456413 1:243293111-243293111
4 SDCCAG8 NM_006642.5(SDCCAG8):c.1944_1945GT[1] (p.Cys649fs)short repeat Pathogenic 59 rs397515336 1:243589819-243589822 1:243426517-243426520
5 SDCCAG8 NM_006642.5(SDCCAG8):c.1339dup (p.Glu447fs)duplication Pathogenic 58 rs387906218 1:243504455-243504456 1:243341153-243341154
6 SDCCAG8 NM_006642.5(SDCCAG8):c.1420del (p.Glu474fs)deletion Pathogenic 57 rs397515335 1:243507579-243507579 1:243344277-243344277
7 SDCCAG8 NM_006642.5(SDCCAG8):c.740+356C>TSNV Pathogenic 60 rs397515337 1:243468435-243468435 1:243305133-243305133
8 SDCCAG8 NM_006642.5(SDCCAG8):c.696del (p.Thr231_Tyr232insTer)deletion Pathogenic 654015 1:243468035-243468035 1:243304733-243304733
9 SDCCAG8 NC_000001.10:g.(?_242431558)_(244006492_?)deldeletion Pathogenic 660672 1:242431558-244006492 1:242268256-243843190
10 SDCCAG8 NM_006642.5(SDCCAG8):c.307-1G>ASNV Likely pathogenic 649302 1:243437844-243437844 1:243274542-243274542
11 SDCCAG8 NM_006642.5(SDCCAG8):c.546+1G>ASNV Likely pathogenic 566217 rs756907665 1:243449700-243449700 1:243286398-243286398
12 SDCCAG8 NM_006642.5(SDCCAG8):c.1575del (p.Glu526fs)deletion Likely pathogenic 623227 rs1390963789 1:243542124-243542124 1:243378822-243378822
13 SDCCAG8 NM_006642.5(SDCCAG8):c.572C>T (p.Thr191Ile)SNV Conflicting interpretations of pathogenicity 296908 rs150070966 1:243456418-243456418 1:243293116-243293116
14 SDCCAG8 NM_006642.5(SDCCAG8):c.778C>G (p.Leu260Val)SNV Uncertain significance 436676 rs201869920 1:243471328-243471328 1:243308026-243308026
15 SDCCAG8 NM_006642.5(SDCCAG8):c.916G>A (p.Glu306Lys)SNV Uncertain significance 474960 rs777002036 1:243471466-243471466 1:243308164-243308164
16 SDCCAG8 NM_006642.5(SDCCAG8):c.518T>C (p.Leu173Pro)SNV Uncertain significance 541793 rs541533278 1:243449671-243449671 1:243286369-243286369
17 SDCCAG8 NM_006642.5(SDCCAG8):c.799A>T (p.Lys267Ter)SNV Uncertain significance 561191 rs1558269718 1:243471349-243471349 1:243308047-243308047
18 SDCCAG8 NM_006642.5(SDCCAG8):c.1783T>G (p.Phe595Val)SNV Uncertain significance 634489 rs776765317 1:243581308-243581308 1:243418006-243418006
19 SDCCAG8 NM_006642.5(SDCCAG8):c.31G>C (p.Glu11Gln)SNV Uncertain significance 649596 1:243419506-243419506 1:243256204-243256204
20 SDCCAG8 NM_006642.5(SDCCAG8):c.160A>T (p.Thr54Ser)SNV Uncertain significance 665268 1:243433499-243433499 1:243270197-243270197
21 SDCCAG8 NM_006642.5(SDCCAG8):c.181G>T (p.Ala61Ser)SNV Uncertain significance 641196 1:243433520-243433520 1:243270218-243270218
22 SDCCAG8 NM_006642.5(SDCCAG8):c.1730A>C (p.Gln577Pro)SNV Uncertain significance 649190 1:243579117-243579117 1:243415815-243415815
23 SDCCAG8 NM_006642.5(SDCCAG8):c.237T>A (p.Asp79Glu)SNV Uncertain significance 296904 rs146474568 1:243434296-243434296 1:243270994-243270994
24 SDCCAG8 NM_006642.5(SDCCAG8):c.912C>T (p.Thr304=)SNV Benign/Likely benign 260013 rs976529 1:243471462-243471462 1:243308160-243308160
25 SDCCAG8 NM_006642.5(SDCCAG8):c.1134A>T (p.Glu378Asp)SNV Benign 260006 rs2275155 1:243493907-243493907 1:243330605-243330605
26 SDCCAG8 NM_006642.5(SDCCAG8):c.1725G>A (p.Glu575=)SNV Benign 260009 rs10927011 1:243579112-243579112 1:243415810-243415810

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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
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35 IUPHAR
36 KEGG
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39 LOVD
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43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
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50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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