SLSN4
MCID: SNR004
MIFTS: 26

Senior-Loken Syndrome 4 (SLSN4)

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

Aliases & Classifications for Senior-Loken Syndrome 4

MalaCards integrated aliases for Senior-Loken Syndrome 4:

Name: Senior-Loken Syndrome 4 57 72 29 13 6 70
Slsn4 57 72
Senior-Loken Syndrome, Type 4 39

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

Miscellaneous:
genetic heterogeneity (see for summary)
allelic to nephronophthisis 4


HPO:

31
senior-loken syndrome 4:
Inheritance autosomal recessive inheritance heterogeneous


Classifications:



Summaries for Senior-Loken Syndrome 4

UniProtKB/Swiss-Prot : 72 Senior-Loken syndrome 4: 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 4, is also known as slsn4, and has symptoms including polydipsia and polyuria. An important gene associated with Senior-Loken Syndrome 4 is NPHP4 (Nephrocystin 4). Affiliated tissues include eye and kidney, and related phenotypes are polydipsia and anemia

More information from OMIM: 606996 PS266900

Related Diseases for Senior-Loken Syndrome 4

Symptoms & Phenotypes for Senior-Loken Syndrome 4

Human phenotypes related to Senior-Loken Syndrome 4:

31 (show all 9)
# Description HPO Frequency HPO Source Accession
1 polydipsia 31 HP:0001959
2 anemia 31 HP:0001903
3 amblyopia 31 HP:0000646
4 rod-cone dystrophy 31 HP:0000510
5 nephronophthisis 31 HP:0000090
6 stage 5 chronic kidney disease 31 HP:0003774
7 severely reduced visual acuity 31 HP:0001141
8 rotary nystagmus 31 HP:0001583
9 polyuria 31 HP:0000103

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Metabolic Features:
polydipsia
polyuria

Head And Neck Eyes:
amblyopia
rotary nystagmus
retinitis pigmentosa
severe visual impairment
diminished amplitude on erg

Hematology:
anemia

Genitourinary Kidneys:
nephronophthisis
end stage renal disease

Clinical features from OMIM®:

606996 (Updated 05-Apr-2021)

UMLS symptoms related to Senior-Loken Syndrome 4:


polydipsia; polyuria

Drugs & Therapeutics for Senior-Loken Syndrome 4

Search Clinical Trials , NIH Clinical Center for Senior-Loken Syndrome 4

Genetic Tests for Senior-Loken Syndrome 4

Genetic tests related to Senior-Loken Syndrome 4:

# Genetic test Affiliating Genes
1 Senior-Loken Syndrome 4 29 NPHP4

Anatomical Context for Senior-Loken Syndrome 4

MalaCards organs/tissues related to Senior-Loken Syndrome 4:

40
Eye, Kidney

Publications for Senior-Loken Syndrome 4

Articles related to Senior-Loken Syndrome 4:

# Title Authors PMID Year
1
A gene mutated in nephronophthisis and retinitis pigmentosa encodes a novel protein, nephroretinin, conserved in evolution. 57 6
12205563 2002
2
Mapping of gene loci for nephronophthisis type 4 and Senior-Løken syndrome, to chromosome 1p36. 57 6
11920287 2002
3
Carrier detection in tapetoretinal degeneration in association with medullary cystic disease. 6
6837691 1983
4
Senior-Loken syndrome (nephronophthisis and tapeto-retinal degeneration): a study of 8 cases from 5 families. 6
1248184 1976

Variations for Senior-Loken Syndrome 4

ClinVar genetic disease variations for Senior-Loken Syndrome 4:

6 (show top 50) (show all 178)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 NPHP4 NM_015102.5(NPHP4):c.2029C>T (p.Pro677Ser) SNV Pathogenic 499066 rs547495754 GRCh37: 1:5964791-5964791
GRCh38: 1:5904731-5904731
2 NPHP4 NM_015102.5(NPHP4):c.2930C>T (p.Thr977Met) SNV Pathogenic 812121 rs569364202 GRCh37: 1:5935048-5935048
GRCh38: 1:5874988-5874988
3 NPHP4 NM_015102.5(NPHP4):c.12G>A (p.Trp4Ter) SNV Pathogenic 931168 GRCh37: 1:6046338-6046338
GRCh38: 1:5986278-5986278
4 NPHP4 NM_015102.5(NPHP4):c.2335C>T (p.Gln779Ter) SNV Pathogenic 3404 rs137852922 GRCh37: 1:5947496-5947496
GRCh38: 1:5887436-5887436
5 NPHP4 NM_015102.5(NPHP4):c.1972C>T (p.Arg658Ter) SNV Pathogenic 3405 rs137852923 GRCh37: 1:5964848-5964848
GRCh38: 1:5904788-5904788
6 NPHP4 NM_015102.5(NPHP4):c.3490_3491delinsA (p.Leu1164fs) Indel Likely pathogenic 1030411 GRCh37: 1:5927157-5927158
GRCh38: 1:5867097-5867098
7 NPHP4 NM_015102.5(NPHP4):c.1788_1791del (p.Ser597fs) Deletion Likely pathogenic 225422 rs747699128 GRCh37: 1:5965516-5965519
GRCh38: 1:5905456-5905459
8 NPHP4 NM_015102.5(NPHP4):c.4145G>A (p.Gly1382Glu) SNV Uncertain significance 196631 rs773368924 GRCh37: 1:5923461-5923461
GRCh38: 1:5863401-5863401
9 NPHP4 NM_015102.5(NPHP4):c.2653A>C (p.Ser885Arg) SNV Uncertain significance 291103 rs112206586 GRCh37: 1:5937317-5937317
GRCh38: 1:5877257-5877257
10 NPHP4 NM_015102.5(NPHP4):c.4114C>T (p.Leu1372=) SNV Uncertain significance 215887 rs374146357 GRCh37: 1:5923976-5923976
GRCh38: 1:5863916-5863916
11 NPHP4 NM_015102.5(NPHP4):c.2434G>A (p.Gly812Ser) SNV Uncertain significance 874183 GRCh37: 1:5947397-5947397
GRCh38: 1:5887337-5887337
12 NPHP4 NM_015102.5(NPHP4):c.2374G>A (p.Glu792Lys) SNV Uncertain significance 874184 GRCh37: 1:5947457-5947457
GRCh38: 1:5887397-5887397
13 NPHP4 NM_015102.5(NPHP4):c.2347G>A (p.Glu783Lys) SNV Uncertain significance 874185 GRCh37: 1:5947484-5947484
GRCh38: 1:5887424-5887424
14 NPHP4 NM_015102.5(NPHP4):c.2021G>T (p.Arg674Leu) SNV Uncertain significance 499988 rs375416303 GRCh37: 1:5964799-5964799
GRCh38: 1:5904739-5904739
15 NPHP4 NM_015102.5(NPHP4):c.3720C>T (p.Cys1240=) SNV Uncertain significance 874895 GRCh37: 1:5925258-5925258
GRCh38: 1:5865198-5865198
16 NPHP4 NM_015102.5(NPHP4):c.3174C>T (p.Thr1058=) SNV Uncertain significance 595216 rs374354239 GRCh37: 1:5934588-5934588
GRCh38: 1:5874528-5874528
17 NPHP4 NM_015102.5(NPHP4):c.2673A>G (p.Leu891=) SNV Uncertain significance 875063 GRCh37: 1:5937297-5937297
GRCh38: 1:5877237-5877237
18 NPHP4 NM_015102.5(NPHP4):c.2304+5C>T SNV Uncertain significance 875115 GRCh37: 1:5950923-5950923
GRCh38: 1:5890863-5890863
19 NPHP4 NM_015102.5(NPHP4):c.1088T>G (p.Val363Gly) SNV Uncertain significance 875272 GRCh37: 1:6007195-6007195
GRCh38: 1:5947135-5947135
20 NPHP4 NM_015102.5(NPHP4):c.135+15T>C SNV Uncertain significance 875314 GRCh37: 1:6046200-6046200
GRCh38: 1:5986140-5986140
21 NPHP4 NM_015102.5(NPHP4):c.7G>T (p.Asp3Tyr) SNV Uncertain significance 695555 rs145078518 GRCh37: 1:6046343-6046343
GRCh38: 1:5986283-5986283
22 NPHP4 NM_015102.5(NPHP4):c.3688C>G (p.Leu1230Val) SNV Uncertain significance 874896 GRCh37: 1:5925290-5925290
GRCh38: 1:5865230-5865230
23 NPHP4 NM_015102.5(NPHP4):c.1405C>T (p.Arg469Trp) SNV Uncertain significance 632112 rs758253306 GRCh37: 1:5987745-5987745
GRCh38: 1:5927685-5927685
24 NPHP4 NM_015102.5(NPHP4):c.1024C>T (p.Arg342Cys) SNV Uncertain significance 281181 rs190940697 GRCh37: 1:6007259-6007259
GRCh38: 1:5947199-5947199
25 NPHP4 NM_015102.5(NPHP4):c.902C>T (p.Pro301Leu) SNV Uncertain significance 502735 rs527701970 GRCh37: 1:6008220-6008220
GRCh38: 1:5948160-5948160
26 NPHP4 NM_015102.5(NPHP4):c.1397A>G (p.Lys466Arg) SNV Uncertain significance 876318 GRCh37: 1:5987753-5987753
GRCh38: 1:5927693-5927693
27 NPHP4 NM_015102.5(NPHP4):c.1319C>T (p.Ser440Leu) SNV Uncertain significance 193899 rs749571139 GRCh37: 1:5987831-5987831
GRCh38: 1:5927771-5927771
28 NPHP4 NM_015102.5(NPHP4):c.*285G>A SNV Uncertain significance 876727 GRCh37: 1:5923040-5923040
GRCh38: 1:5862980-5862980
29 NPHP4 NM_015102.5(NPHP4):c.3911A>G (p.His1304Arg) SNV Uncertain significance 196138 rs115488133 GRCh37: 1:5924483-5924483
GRCh38: 1:5864423-5864423
30 NPHP4 NM_015102.5(NPHP4):c.3168C>T (p.His1056=) SNV Uncertain significance 288722 rs376351293 GRCh37: 1:5934594-5934594
GRCh38: 1:5874534-5874534
31 NPHP4 NM_015102.5(NPHP4):c.3131G>A (p.Arg1044His) SNV Uncertain significance 592639 rs375819124 GRCh37: 1:5934631-5934631
GRCh38: 1:5874571-5874571
32 NPHP4 NM_015102.5(NPHP4):c.3105G>A (p.Pro1035=) SNV Uncertain significance 698625 rs151151838 GRCh37: 1:5934657-5934657
GRCh38: 1:5874597-5874597
33 NPHP4 NM_015102.5(NPHP4):c.3082G>C (p.Gly1028Arg) SNV Uncertain significance 875880 GRCh37: 1:5934680-5934680
GRCh38: 1:5874620-5874620
34 NPHP4 NM_015102.5(NPHP4):c.2798G>A (p.Arg933Gln) SNV Uncertain significance 876921 GRCh37: 1:5937172-5937172
GRCh38: 1:5877112-5877112
35 NPHP4 NM_015102.5(NPHP4):c.2781C>T (p.Ala927=) SNV Uncertain significance 695589 rs199875603 GRCh37: 1:5937189-5937189
GRCh38: 1:5877129-5877129
36 NPHP4 NM_015102.5(NPHP4):c.2490C>T (p.His830=) SNV Uncertain significance 876974 GRCh37: 1:5940295-5940295
GRCh38: 1:5880235-5880235
37 NPHP4 NM_015102.5(NPHP4):c.2485+9C>A SNV Uncertain significance 594329 rs200952409 GRCh37: 1:5947337-5947337
GRCh38: 1:5887277-5887277
38 NPHP4 NM_015102.5(NPHP4):c.271T>C (p.Phe91Leu) SNV Uncertain significance 196471 rs201065230 GRCh37: 1:6038338-6038338
GRCh38: 1:5978278-5978278
39 NPHP4 NM_015102.5(NPHP4):c.271T>C (p.Phe91Leu) SNV Uncertain significance 196471 rs201065230 GRCh37: 1:6038338-6038338
GRCh38: 1:5978278-5978278
40 NPHP4 NM_015102.5(NPHP4):c.2203C>T (p.Arg735Trp) SNV Uncertain significance 194765 rs191913664 GRCh37: 1:5951029-5951029
GRCh38: 1:5890969-5890969
41 NPHP4 NM_015102.5(NPHP4):c.1330C>T (p.Arg444Trp) SNV Uncertain significance 297822 rs375090105 GRCh37: 1:5987820-5987820
GRCh38: 1:5927760-5927760
42 NPHP4 NM_015102.5(NPHP4):c.3292G>A (p.Ala1098Thr) SNV Uncertain significance 500975 rs41280798 GRCh37: 1:5933335-5933335
GRCh38: 1:5873275-5873275
43 NPHP4 NM_015102.5(NPHP4):c.3175G>A (p.Ala1059Thr) SNV Uncertain significance 502319 rs202004152 GRCh37: 1:5934587-5934587
GRCh38: 1:5874527-5874527
44 NPHP4 NM_015102.5(NPHP4):c.2306A>T (p.His769Leu) SNV Uncertain significance 497253 rs200821373 GRCh37: 1:5947525-5947525
GRCh38: 1:5887465-5887465
45 NPHP4 NM_015102.5(NPHP4):c.2051A>G (p.Gln684Arg) SNV Uncertain significance 283814 rs200667197 GRCh37: 1:5964769-5964769
GRCh38: 1:5904709-5904709
46 NPHP4 NM_015102.5(NPHP4):c.2723C>T (p.Ser908Leu) SNV Uncertain significance 874131 GRCh37: 1:5937247-5937247
GRCh38: 1:5877187-5877187
47 NPHP4 NM_015102.5(NPHP4):c.1126T>G (p.Ser376Ala) SNV Uncertain significance 844126 GRCh37: 1:5993383-5993383
GRCh38: 1:5933323-5933323
48 NPHP4 NM_015102.5(NPHP4):c.176G>A (p.Arg59Gln) SNV Uncertain significance 462715 rs200128117 GRCh37: 1:6038433-6038433
GRCh38: 1:5978373-5978373
49 NPHP4 NM_015102.5(NPHP4):c.3175G>A (p.Ala1059Thr) SNV Uncertain significance 502319 rs202004152 GRCh37: 1:5934587-5934587
GRCh38: 1:5874527-5874527
50 NPHP4 NM_015102.5(NPHP4):c.1850C>T (p.Ala617Val) SNV Uncertain significance 501365 rs190522911 GRCh37: 1:5965457-5965457
GRCh38: 1:5905397-5905397

UniProtKB/Swiss-Prot genetic disease variations for Senior-Loken Syndrome 4:

72
# Symbol AA change Variation ID SNP ID
1 NPHP4 p.Asp3Tyr VAR_022526 rs145078518
2 NPHP4 p.Phe91Leu VAR_022528 rs201065230
3 NPHP4 p.Thr627Met VAR_022533 rs199891059
4 NPHP4 p.Thr946Ala VAR_022542

Expression for Senior-Loken Syndrome 4

Search GEO for disease gene expression data for Senior-Loken Syndrome 4.

Pathways for Senior-Loken Syndrome 4

GO Terms for Senior-Loken Syndrome 4

Sources for Senior-Loken Syndrome 4

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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