Senior-Loken Syndrome 3 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

Sources

Aliases & Classifications for Senior-Loken Syndrome 3

MalaCards integrated aliases for Senior-Loken Syndrome 3:

Name: Senior-Loken Syndrome 3 ⁵⁶ ²⁹ ¹³ ⁶ ⁷¹

Slsn3 ⁵⁶

Characteristics:

OMIM:

⁵⁶

Inheritance:
autosomal recessive

HPO:

³¹

senior-loken syndrome 3:
Inheritance autosomal recessive inheritance

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Eye diseases Nephrological diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁶ 606995

OMIM Phenotypic Series ⁵⁶ PS266900

MedGen ⁴¹ C1846980

SNOMED-CT via HPO ⁶⁸ 17173007 204958008 258211005 more

UMLS ⁷¹ C1846980

Sources

Summaries for Senior-Loken Syndrome 3

MalaCards based summary : Senior-Loken Syndrome 3, also known as slsn3, is related to senior-loken syndrome 1, and has symptoms including polydipsia and polyuria. An important gene associated with Senior-Loken Syndrome 3 is NPHP1 (Nephrocystin 1). Affiliated tissues include kidney, and related phenotypes are polydipsia and nystagmus

More information from OMIM: 606995 PS266900

Sources

Related Diseases for Senior-Loken Syndrome 3

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 3 via text searches within MalaCards or GeneCards Suite gene sharing:

#	Related Disease	Score	Top Affiliating Genes
1	senior-loken syndrome 1	30.8	SLSN3 NPHP1

Sources

Symptoms & Phenotypes for Senior-Loken Syndrome 3

Human phenotypes related to Senior-Loken Syndrome 3:

³¹ (show all 10)

#	Description	HPO Source Accession
1	polydipsia ³¹	HP:0001959
2	nystagmus ³¹	HP:0000639
3	nephronophthisis ³¹	HP:0000090
4	visual loss ³¹	HP:0000572
5	enuresis ³¹	HP:0000805
6	stage 5 chronic kidney disease ³¹	HP:0003774
7	congenital blindness ³¹	HP:0007875
8	polyuria ³¹	HP:0000103
9	renal corticomedullary cysts ³¹	HP:0000108
10	undetectable electroretinogram ³¹	HP:0000550

Symptoms via clinical synopsis from OMIM:

⁵⁶

Metabolic Features:
polydipsia
polyuria

Genitourinary Kidneys:
nephronophthisis
corticomedullary cysts
end stage renal disease

Head And Neck Eyes:
nystagmus
leber congenital amaurosis
absent electroretinogram
vision loss, profound
poor pupillary reflexes

Genitourinary:
secondary nocturnal enuresis

Clinical features from OMIM:

606995

UMLS symptoms related to Senior-Loken Syndrome 3:

polydipsia, polyuria

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Drugs & Therapeutics for Senior-Loken Syndrome 3

Search Clinical Trials , NIH Clinical Center for Senior-Loken Syndrome 3

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Genetic Tests for Senior-Loken Syndrome 3

Genetic tests related to Senior-Loken Syndrome 3:

#	Genetic test	Affiliating Genes
1	Senior-Loken Syndrome 3 ²⁹

Sources

Anatomical Context for Senior-Loken Syndrome 3

MalaCards organs/tissues related to Senior-Loken Syndrome 3:

⁴⁰

Kidney

Sources

Publications for Senior-Loken Syndrome 3

Articles related to Senior-Loken Syndrome 3:

#	Title	Authors	PMID	Year
1	Mutations in a novel gene, NPHP3, cause adolescent nephronophthisis, tapeto-retinal degeneration and hepatic fibrosis. ⁵⁶	Olbrich H...Omran H	12872122	2003
2	Identification of a gene locus for Senior-Løken syndrome in the region of the nephronophthisis type 3 gene. ⁵⁶	Omran H...Hildebrandt F	11752023	2002
3	Candidate gene analysis of KIAA0678 encoding a DnaJ-like protein for adolescent nephronophthisis and Senior-Løken syndrome type 3. ⁶¹	Volz A...Omran H	12438707	2002

Sources

Genes for Senior-Loken Syndrome 3

Genes related to Senior-Loken Syndrome 3 (2 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	NPHP1	Nephrocystin 1	Protein Coding	400	Pathogenic ⁶
2	SLSN3	Senior-Loken Syndrome 3	Genetic Locus	58.47	Genetic linkage ⁵⁶ GeneCards inferred via : Gene name (show sections)

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Variations for Senior-Loken Syndrome 3

ClinVar genetic disease variations for Senior-Loken Syndrome 3:

⁶ ‎‎

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	NPHP1		deletion	Pathogenic	453297		2:110852960-110975102	2:110095383-110217525

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Expression for Senior-Loken Syndrome 3

Search GEO for disease gene expression data for Senior-Loken Syndrome 3.

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Pathways for Senior-Loken Syndrome 3

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GO Terms for Senior-Loken Syndrome 3

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Sources for Senior-Loken Syndrome 3

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⁴⁰ MalaCards

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⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia

Senior-Loken Syndrome 3 (SLSN3)

Aliases & Classifications for Senior-Loken Syndrome 3

MalaCards integrated aliases for Senior-Loken Syndrome 3:

Characteristics:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Senior-Loken Syndrome 3

Related Diseases for Senior-Loken Syndrome 3

Diseases in the Senior-Loken Syndrome 1 family:

Diseases related to Senior-Loken Syndrome 3 via text searches within MalaCards or GeneCards Suite gene sharing:

Symptoms & Phenotypes for Senior-Loken Syndrome 3

Human phenotypes related to Senior-Loken Syndrome 3:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

UMLS symptoms related to Senior-Loken Syndrome 3:

Drugs & Therapeutics for Senior-Loken Syndrome 3

Genetic Tests for Senior-Loken Syndrome 3

Genetic tests related to Senior-Loken Syndrome 3:

Anatomical Context for Senior-Loken Syndrome 3

MalaCards organs/tissues related to Senior-Loken Syndrome 3:

Publications for Senior-Loken Syndrome 3

Articles related to Senior-Loken Syndrome 3:

Genes for Senior-Loken Syndrome 3

Genes related to Senior-Loken Syndrome 3 (2 elite genes):

Variations for Senior-Loken Syndrome 3

ClinVar genetic disease variations for Senior-Loken Syndrome 3:

Expression for Senior-Loken Syndrome 3

Pathways for Senior-Loken Syndrome 3

GO Terms for Senior-Loken Syndrome 3

Sources for Senior-Loken Syndrome 3