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

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Aliases & Classifications for Senior-Loken Syndrome 3

MalaCards integrated aliases for Senior-Loken Syndrome 3:

Name: Senior-Loken Syndrome 3 ⁵⁷ ²⁹ ¹³ ⁶ ⁷⁰

Slsn3 ⁵⁷

Characteristics:

OMIM®:

⁵⁷ (Updated 20-May-2021)

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® ⁵⁷ 606995

OMIM Phenotypic Series ⁵⁷ PS266900

MedGen ⁴¹ C1846980

SNOMED-CT via HPO ⁶⁸ 17173007 204958008 258211005 more

UMLS ⁷⁰ C1846980

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Summaries for Senior-Loken Syndrome 3

MalaCards based summary : Senior-Loken Syndrome 3, also known as slsn3, is related to nephronophthisis, and has symptoms including polydipsia and polyuria. An important gene associated with Senior-Loken Syndrome 3 is SLSN3 (Senior-Loken Syndrome 3). Affiliated tissues include eye and kidney, and related phenotypes are nystagmus and polydipsia

More information from OMIM: 606995 PS266900

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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	nephronophthisis	10.9

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Symptoms & Phenotypes for Senior-Loken Syndrome 3

Human phenotypes related to Senior-Loken Syndrome 3:

³¹ (show all 10)

#	Description	HPO Source Accession
1	nystagmus ³¹	HP:0000639
2	polydipsia ³¹	HP:0001959
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®:

⁵⁷ (Updated 20-May-2021)

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

Genitourinary Kidneys:
nephronophthisis
corticomedullary cysts
end stage renal disease

Metabolic Features:
polydipsia
polyuria

Genitourinary:
secondary nocturnal enuresis

Clinical features from OMIM®:

606995 (Updated 20-May-2021)

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

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Anatomical Context for Senior-Loken Syndrome 3

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

⁴⁰

Eye, Kidney

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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. ⁵⁷	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. ⁵⁷	Omran H...Hildebrandt F	11752023	2002
3	A deletion distinct from the classical homologous recombination of juvenile nephronophthisis type 1 (NPH1) allows exact molecular definition of deletion breakpoints. ⁶	Otto E...Hildebrandt F	10980528	2000
4	Children with ocular motor apraxia type Cogan carry deletions in the gene (NPHP1) for juvenile nephronophthisis. ⁶	Betz R...Hildebrandt F	10839884	2000
5	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

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Genes for Senior-Loken Syndrome 3

Genes related to Senior-Loken Syndrome 3 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	SLSN3	Senior-Loken Syndrome 3	Genetic Locus	58.62	Genetic linkage ⁵⁷ 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	Position
1	overlap with 3 genes		Deletion	Pathogenic	453297		GRCh37: 2:110852960-110975102 GRCh38: 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

¹ BioSystems

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⁸ Cochrane Library

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⁴⁰ MalaCards

⁴¹ MedGen

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⁴⁸ NCBI Bookshelf

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⁵² NIH Clinical Center

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 20-May-2021)

⁵⁸ Orphanet

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⁶⁷ SNOMED-CT

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⁶⁹ Tocris

⁷⁰ UMLS

⁷¹ UMLS via Orphanet

⁷² UniProtKB/Swiss-Prot

⁷³ 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 (1 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