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 ⁵⁸ ³⁰ ¹³ ⁶ ⁷⁴

Slsn3 ⁵⁸

Characteristics:

OMIM:

⁵⁸

Inheritance:
autosomal recessive

HPO:

³³

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 ⁵⁸ 606995

MedGen ⁴³ C1846980

SNOMED-CT via HPO ⁷⁰ 17173007 204958008 258211005 more

UMLS ⁷⁴ 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 nystagmus and polydipsia

Description from OMIM: 606995

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	11.1

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Symptoms & Phenotypes for Senior-Loken Syndrome 3

Human phenotypes related to Senior-Loken Syndrome 3:

³³ (show all 10)

#	Description	HPO Source Accession
1	nystagmus ³³	HP:0000639
2	polydipsia ³³	HP:0001959
3	visual loss ³³	HP:0000572
4	nephronophthisis ³³	HP:0000090
5	stage 5 chronic kidney disease ³³	HP:0003774
6	congenital blindness ³³	HP:0007875
7	enuresis ³³	HP:0000805
8	polyuria ³³	HP:0000103
9	renal corticomedullary cysts ³³	HP:0000108
10	undetectable electroretinogram ³³	HP:0000550

Symptoms via clinical synopsis from OMIM:

⁵⁸

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 ³⁰

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Anatomical Context for Senior-Loken Syndrome 3

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

⁴²

Kidney

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Publications for Senior-Loken Syndrome 3

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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	58.67	Genetic linkage ⁵⁸ 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	Assembly	Location
1	NPHP1	NC_000002.12: g.110095383_110217525del122143	deletion	Pathogenic		GRCh37	Chromosome 2, 110852960: 110975102
2	NPHP1	NC_000002.12: g.110095383_110217525del122143	deletion	Pathogenic		GRCh38	Chromosome 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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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

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