MCID: SNR007
MIFTS: 20

Senior-Loken Syndrome 7

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

Aliases & Classifications for Senior-Loken Syndrome 7

MalaCards integrated aliases for Senior-Loken Syndrome 7:

Name: Senior-Loken Syndrome 7 57 75 29 13 6 73
Slsn7 57 75
Senior-Loken Syndrome, Type 7 40

Characteristics:

HPO:

32
senior-loken syndrome 7:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 613615
MedGen 42 C3150877
SNOMED-CT via HPO 69 258211005 204958008 95695004
UMLS 73 C3150877

Summaries for Senior-Loken Syndrome 7

UniProtKB/Swiss-Prot : 75 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 retinal aplasia. 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 8.6 AKT3 MIR4677 SDCCAG8
2 retinal aplasia 8.5 AKT3 MIR4677 SDCCAG8
3 bardet-biedl syndrome 8.2 AKT3 MIR4677 SDCCAG8

Symptoms & Phenotypes for Senior-Loken Syndrome 7

Clinical features from OMIM:

613615

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

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

Variations for Senior-Loken Syndrome 7

ClinVar genetic disease variations for Senior-Loken Syndrome 7:

6
(show all 36)
# Gene Variation Type Significance SNP ID Assembly Location
1 SDCCAG8 NM_006642.4(SDCCAG8): c.1339dupG (p.Glu447Glyfs) duplication Pathogenic rs387906218 GRCh38 Chromosome 1, 243341156: 243341156
2 SDCCAG8 NM_006642.4(SDCCAG8): c.1420delG (p.Glu474Serfs) deletion Pathogenic rs397515335 GRCh37 Chromosome 1, 243507580: 243507580
3 SDCCAG8 NM_006642.4(SDCCAG8): c.1420delG (p.Glu474Serfs) deletion Pathogenic rs397515335 GRCh38 Chromosome 1, 243344278: 243344278
4 SDCCAG8 NM_006642.4(SDCCAG8): c.1339dupG (p.Glu447Glyfs) duplication Pathogenic rs387906218 GRCh37 Chromosome 1, 243504458: 243504458
5 SDCCAG8 NM_006642.4(SDCCAG8): c.1946_1949delGTGT (p.Cys649Serfs) deletion Pathogenic rs397515336 GRCh37 Chromosome 1, 243589821: 243589824
6 SDCCAG8 NM_006642.4(SDCCAG8): c.1946_1949delGTGT (p.Cys649Serfs) deletion Pathogenic rs397515336 GRCh38 Chromosome 1, 243426519: 243426522
7 SDCCAG8 NM_006642.4(SDCCAG8): c.1409A> G (p.Glu470Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs118064970 GRCh37 Chromosome 1, 243507569: 243507569
8 SDCCAG8 NM_006642.4(SDCCAG8): c.1409A> G (p.Glu470Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs118064970 GRCh38 Chromosome 1, 243344267: 243344267
9 SDCCAG8 NM_006642.4(SDCCAG8): c.1094G> A (p.Arg365Lys) single nucleotide variant Likely benign rs115098969 GRCh37 Chromosome 1, 243493867: 243493867
10 SDCCAG8 NM_006642.4(SDCCAG8): c.1094G> A (p.Arg365Lys) single nucleotide variant Likely benign rs115098969 GRCh38 Chromosome 1, 243330565: 243330565
11 SDCCAG8 NM_006642.4(SDCCAG8): c.221-2A> G single nucleotide variant Pathogenic rs797045946 GRCh37 Chromosome 1, 243434278: 243434278
12 SDCCAG8 NM_006642.4(SDCCAG8): c.221-2A> G single nucleotide variant Pathogenic rs797045946 GRCh38 Chromosome 1, 243270976: 243270976
13 SDCCAG8 NM_006642.4(SDCCAG8): c.481C> T (p.Gln161Ter) single nucleotide variant Pathogenic rs797045947 GRCh38 Chromosome 1, 243286332: 243286332
14 SDCCAG8 NM_006642.4(SDCCAG8): c.481C> T (p.Gln161Ter) single nucleotide variant Pathogenic rs797045947 GRCh37 Chromosome 1, 243449634: 243449634
15 SDCCAG8 NM_006642.4(SDCCAG8): c.567G> A (p.Trp189Ter) single nucleotide variant Pathogenic rs797045948 GRCh37 Chromosome 1, 243456413: 243456413
16 SDCCAG8 NM_006642.4(SDCCAG8): c.567G> A (p.Trp189Ter) single nucleotide variant Pathogenic rs797045948 GRCh38 Chromosome 1, 243293111: 243293111
17 SDCCAG8 NM_006642.4(SDCCAG8): c.279G> A (p.Pro93=) single nucleotide variant Conflicting interpretations of pathogenicity rs145877279 GRCh38 Chromosome 1, 243271036: 243271036
18 SDCCAG8 NM_006642.4(SDCCAG8): c.279G> A (p.Pro93=) single nucleotide variant Conflicting interpretations of pathogenicity rs145877279 GRCh37 Chromosome 1, 243434338: 243434338
19 SDCCAG8 NM_006642.4(SDCCAG8): c.912C> T (p.Thr304=) single nucleotide variant Benign/Likely benign rs976529 GRCh38 Chromosome 1, 243308160: 243308160
20 SDCCAG8 NM_006642.4(SDCCAG8): c.912C> T (p.Thr304=) single nucleotide variant Benign/Likely benign rs976529 GRCh37 Chromosome 1, 243471462: 243471462
21 SDCCAG8 NM_006642.4(SDCCAG8): c.1134A> T (p.Glu378Asp) single nucleotide variant Benign rs2275155 GRCh38 Chromosome 1, 243330605: 243330605
22 SDCCAG8 NM_006642.4(SDCCAG8): c.1134A> T (p.Glu378Asp) single nucleotide variant Benign rs2275155 GRCh37 Chromosome 1, 243493907: 243493907
23 SDCCAG8 NM_006642.4(SDCCAG8): c.1725G> A (p.Glu575=) single nucleotide variant Benign rs10927011 GRCh38 Chromosome 1, 243415810: 243415810
24 SDCCAG8 NM_006642.4(SDCCAG8): c.1725G> A (p.Glu575=) single nucleotide variant Benign rs10927011 GRCh37 Chromosome 1, 243579112: 243579112
25 SDCCAG8 NM_006642.4(SDCCAG8): c.1159delG (p.Ala387Profs) deletion Pathogenic rs886043688 GRCh37 Chromosome 1, 243493932: 243493932
26 SDCCAG8 NM_006642.4(SDCCAG8): c.1159delG (p.Ala387Profs) deletion Pathogenic rs886043688 GRCh38 Chromosome 1, 243330630: 243330630
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.1094G> C (p.Arg365Thr) single nucleotide variant Benign/Likely benign rs115098969 GRCh38 Chromosome 1, 243330565: 243330565
30 SDCCAG8 NM_006642.4(SDCCAG8): c.1094G> C (p.Arg365Thr) single nucleotide variant Benign/Likely benign rs115098969 GRCh37 Chromosome 1, 243493867: 243493867
31 SDCCAG8 NM_006642.4(SDCCAG8): c.916G> A (p.Glu306Lys) single nucleotide variant Uncertain significance rs777002036 GRCh37 Chromosome 1, 243471466: 243471466
32 SDCCAG8 NM_006642.4(SDCCAG8): c.916G> A (p.Glu306Lys) single nucleotide variant Uncertain significance rs777002036 GRCh38 Chromosome 1, 243308164: 243308164
33 SDCCAG8 NM_006642.4(SDCCAG8): c.2067G> A (p.Leu689=) single nucleotide variant Benign rs191821211 GRCh37 Chromosome 1, 243652397: 243652397
34 SDCCAG8 NM_006642.4(SDCCAG8): c.2067G> A (p.Leu689=) single nucleotide variant Benign rs191821211 GRCh38 Chromosome 1, 243489095: 243489095
35 SDCCAG8 NM_006642.4(SDCCAG8): c.518T> C (p.Leu173Pro) single nucleotide variant Uncertain significance rs541533278 GRCh37 Chromosome 1, 243449671: 243449671
36 SDCCAG8 NM_006642.4(SDCCAG8): c.518T> C (p.Leu173Pro) single nucleotide variant Uncertain significance rs541533278 GRCh38 Chromosome 1, 243286369: 243286369

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 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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