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 ⁷²

Slsn3 ⁵⁷

Characteristics:

OMIM:

⁵⁷

Inheritance:
autosomal recessive

HPO:

³²

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 PS266900

MedGen ⁴² C1846980

UMLS ⁷² 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 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 nystagmus and polydipsia

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	11.3

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Symptoms & Phenotypes for Senior-Loken Syndrome 3

Human phenotypes related to Senior-Loken Syndrome 3:

³² (show all 10)

#	Description	HPO Source Accession
1	nystagmus ³²	HP:0000639
2	polydipsia ³²	HP:0001959
3	visual loss ³²	HP:0000572
4	nephronophthisis ³²	HP:0000090
5	stage 5 chronic kidney disease ³²	HP:0003774
6	congenital blindness ³²	HP:0007875
7	enuresis ³²	HP:0000805
8	polyuria ³²	HP:0000103
9	renal corticomedullary cysts ³²	HP:0000108
10	undetectable electroretinogram ³²	HP:0000550

Symptoms via clinical synopsis from OMIM:

⁵⁷

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

UMLS symptoms related to Senior-Loken Syndrome 3:

polydipsia, polyuria

Sources

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:

⁴¹

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. ⁸	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. ⁸	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. ³⁸	Volz A...Omran H	12438707	2002

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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	58.63	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	Variation	Type	Significance	SNP ID	GRCh37 Pos	GRCh38 Pos
1	NPHP1		deletion	Pathogenic		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

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

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¹⁸ ExPASy

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HGMD

³¹ HMDB

³² HPO

³³ ICD10

³⁴ ICD10 via Orphanet

³⁵ ICD9CM

³⁶ IUPHAR

³⁷ KEGG

³⁸ LifeMap

³⁹ LncRNADisease

⁴⁰ LOVD

⁴¹ MalaCards

⁴² MedGen

⁴³ MedlinePlus

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NIH Rare Diseases

⁵⁴ NINDS

⁵⁵ Novoseek

⁵⁶ Novus Biologicals

⁵⁷ OMIM

⁵⁸ OMIM via Orphanet

⁵⁹ Orphanet

⁶⁰ PathCards

⁶¹ PharmGKB

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ TGDB

⁷¹ Tocris

⁷² UMLS

⁷³ UMLS via Orphanet

⁷⁴ UniProtKB/Swiss-Prot

⁷⁵ 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