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:

IMPROVED

Name: Senior-Loken Syndrome 3 ⁵⁷ ²⁸ ¹² ⁵ ⁷¹

Slsn3 ⁵⁷

Characteristics:

Inheritance:

Autosomal recessive ⁵⁷

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 ⁴⁰ C1846980

SNOMED-CT via HPO ⁶⁹ 17173007 204958008 267026004 more

UMLS ⁷¹ 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 polyuria and polydipsia. An important gene associated with Senior-Loken Syndrome 3 is SLSN3 (Senior-Loken Syndrome 3). Affiliated tissues include 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	11.0

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Symptoms & Phenotypes for Senior-Loken Syndrome 3

Human phenotypes related to Senior-Loken Syndrome 3:

³⁰ (show all 10)

#	Description	HPO Source Accession
1	nystagmus ³⁰	HP:0000639
2	polydipsia ³⁰	HP:0001959
3	nephronophthisis ³⁰	HP:0000090
4	visual loss ³⁰	HP:0000572
5	stage 5 chronic kidney disease ³⁰	HP:0003774
6	enuresis ³⁰	HP:0000805
7	congenital blindness ³⁰	HP:0007875
8	renal corticomedullary cysts ³⁰	HP:0000108
9	polyuria ³⁰	HP:0000103
10	undetectable electroretinogram ³⁰	HP:0000550

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 24-Oct-2022)

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 24-Oct-2022)

UMLS symptoms related to Senior-Loken Syndrome 3:

polyuria; polydipsia

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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 ²⁸

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Anatomical Context for Senior-Loken Syndrome 3

Organs/tissues related to Senior-Loken Syndrome 3:

MalaCards : 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. ⁵	Otto E...Hildebrandt F	10980528	2000
4	Children with ocular motor apraxia type Cogan carry deletions in the gene (NPHP1) for juvenile nephronophthisis. ⁵	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. ⁶²	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	59	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:

IMPROVED

⁵

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	overlap with 3 genes		DEL	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 BitterDB

² CDC

³ Cell Signaling Technology

⁴ ClinicalTrials

⁵ ClinVar

⁶ CNVD

⁷ Cochrane Library

⁸ Cosmic

⁹ dbSNP

¹⁰ DGIdb

¹¹ Disease Ontology

¹² diseasecard

¹³ DiseaseEnhancer

¹⁴ DISEASES

¹⁵ DrugBank

¹⁶ EFO

¹⁷ ExPASy

¹⁸ FMA

¹⁹ GARD

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ GenomeRNAi

²⁶ GEO DataSets

²⁷ GO

²⁸ GTR

²⁹ HMDB

³⁰ HPO

³¹ ICD10

³² ICD10 via Orphanet

³³ ICD11

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ LifeMap

³⁷ LncRNADisease

³⁸ LOVD

³⁹ MalaCards

⁴⁰ MedGen

⁴¹ MedlinePlus

⁴² MedlinePlus Genetics

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NINDS

⁵³ Novoseek

⁵⁴ Novus Biologicals

⁵⁵ ODiseA

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 24-Oct-2022)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubChem

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 Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ WikiPathways

⁷⁵ Wikipedia

SLSN3 MCID: SNR011 MIFTS: 20	Senior-Loken Syndrome 3 (SLSN3) Categories: Eye diseases, Genetic diseases, Nephrological diseases, Rare diseases	Data Licensing For inquiries, contact: [email protected]
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Expand all tables

Senior-Loken Syndrome 3 (SLSN3)

Aliases & Classifications for Senior-Loken Syndrome 3

MalaCards integrated aliases for Senior-Loken Syndrome 3:

Characteristics:

Inheritance:

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

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