MCID: SNR004
MIFTS: 20

Senior-Loken Syndrome 4

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

Aliases & Classifications for Senior-Loken Syndrome 4

MalaCards integrated aliases for Senior-Loken Syndrome 4:

Name: Senior-Loken Syndrome 4 57 75 29 13 6 73
Slsn4 57 75
Senior-Loken Syndrome, Type 4 40

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
senior-loken syndrome 4:
Inheritance heterogeneous autosomal recessive inheritance


Classifications:



Summaries for Senior-Loken Syndrome 4

UniProtKB/Swiss-Prot : 75 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 polyuria and polydipsia. An important gene associated with Senior-Loken Syndrome 4 is NPHP4 (Nephrocystin 4). Affiliated tissues include kidney and eye, and related phenotypes are polydipsia and anemia

Description from OMIM: 606996

Related Diseases for Senior-Loken Syndrome 4

Symptoms & Phenotypes for Senior-Loken Syndrome 4

Symptoms via clinical synopsis from OMIM:

57
Metabolic Features:
polydipsia
polyuria

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

Hematology:
anemia

Genitourinary Kidneys:
nephronophthisis
end stage renal disease


Clinical features from OMIM:

606996

Human phenotypes related to Senior-Loken Syndrome 4:

32 (show all 9)
# Description HPO Frequency HPO Source Accession
1 polydipsia 32 HP:0001959
2 anemia 32 HP:0001903
3 amblyopia 32 HP:0000646
4 nephronophthisis 32 HP:0000090
5 rod-cone dystrophy 32 HP:0000510
6 stage 5 chronic kidney disease 32 HP:0003774
7 severe visual impairment 32 HP:0001141
8 polyuria 32 HP:0000103
9 rotary nystagmus 32 HP:0001583

UMLS symptoms related to Senior-Loken Syndrome 4:


polyuria, polydipsia

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:

41
Kidney, Eye

Publications for Senior-Loken Syndrome 4

Variations for Senior-Loken Syndrome 4

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

75
# 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
5 NPHP4 p.Thr1225Met VAR_022546 rs144624477

ClinVar genetic disease variations for Senior-Loken Syndrome 4:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 NPHP4 NM_015102.4(NPHP4): c.2335C> T (p.Gln779Ter) single nucleotide variant Pathogenic rs137852922 GRCh37 Chromosome 1, 5947496: 5947496
2 NPHP4 NM_015102.4(NPHP4): c.2335C> T (p.Gln779Ter) single nucleotide variant Pathogenic rs137852922 GRCh38 Chromosome 1, 5887436: 5887436
3 NPHP4 NM_015102.4(NPHP4): c.1972C> T (p.Arg658Ter) single nucleotide variant Pathogenic rs137852923 GRCh37 Chromosome 1, 5964848: 5964848
4 NPHP4 NM_015102.4(NPHP4): c.1972C> T (p.Arg658Ter) single nucleotide variant Pathogenic rs137852923 GRCh38 Chromosome 1, 5904788: 5904788
5 NPHP4 NM_001291593.1(NPHP4): c.249_252delCTCC (p.Ser84Trpfs) deletion Likely pathogenic rs747699128 GRCh37 Chromosome 1, 5965516: 5965519
6 NPHP4 NM_001291593.1(NPHP4): c.249_252delCTCC (p.Ser84Trpfs) deletion Likely pathogenic rs747699128 GRCh38 Chromosome 1, 5905456: 5905459

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 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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