FGS4
MCID: FGS004
MIFTS: 16

Fg Syndrome 4 (FGS4) malady

Genetic diseases, Rare diseases, Neuronal diseases, Mental diseases categories

Summaries for Fg Syndrome 4

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Sources:
48OMIM, 34MalaCards
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MalaCards: Fg Syndrome 4, also known as mental retardation, x-linked, cask-related, is related to focal segmental glomerulosclerosis. An important gene associated with Fg Syndrome 4 is CASK (calcium/calmodulin-dependent serine protein kinase (MAGUK family)).

Description from OMIM:48 300422

Aliases & Classifications for Fg Syndrome 4

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Sources:
44NIH Rare Diseases, 23GTR, 48OMIM, 63UMLS
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Neuronal diseases, Mental diseases


Aliases & Descriptions:

fg syndrome 4 44 23 48 63
mental retardation, x-linked, cask-related 63
fgs4 44


Related Diseases for Fg Syndrome 4

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Sources:
18GeneCards, 19GeneDecks
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Diseases related to Fg Syndrome 4 via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1focal segmental glomerulosclerosis10.2

Symptoms for Fg Syndrome 4

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Sources:
48OMIM
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Clinical features from OMIM:

300422

Drugs & Therapeutics for Fg Syndrome 4

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

Search CenterWatch for Fg Syndrome 4

Drug clinical trials:

Search ClinicalTrials for Fg Syndrome 4

Search NIH Clinical Center for Fg Syndrome 4

Search CenterWatch for Fg Syndrome 4

Genetic Tests for Fg Syndrome 4

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Sources:
23GTR
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Genetic tests related to Fg Syndrome 4:

id Genetic test Affiliating Genes
1 Fg Syndrome 423

Anatomical Context for Fg Syndrome 4

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Animal Models for Fg Syndrome 4 or affiliated genes

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Publications for Fg Syndrome 4

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Variations for Fg Syndrome 4

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Sources:
65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Fg Syndrome 4:

65
id Symbol AA change Variation ID SNP ID
1CASKp.Arg28LeuVAR_058719

Clinvar genetic disease variations for Fg Syndrome 4:

1
id Gene Name Type Significance SNP ID Assembly Location
1CASKNM_003688.3(CASK): c.83G> T (p.Arg28Leu)single nucleotide variantPathogenicrs137852816GRCh37Chr X, 41712457: 41712457
2CASKNM_003688.3(CASK): c.802T> C (p.Tyr268His)single nucleotide variantPathogenicrs137852817GRCh37Chr X, 41519721: 41519721
3CASKNM_003688.3(CASK): c.2129A> G (p.Asp710Gly)single nucleotide variantPathogenicrs137852818GRCh37Chr X, 41401970: 41401970
4CASKNM_003688.3(CASK): c.2740T> C (p.Trp914Arg)single nucleotide variantPathogenicrs137852819GRCh37Chr X, 41379699: 41379699
5CASKNM_003688.3(CASK): c.1186C> T (p.Pro396Ser)single nucleotide variantPathogenicrs137852820GRCh37Chr X, 41448815: 41448815
6CASKNM_003688.3(CASK): c.2168A> G (p.Tyr723Cys)single nucleotide variantPathogenicrs398122844GRCh37Chr X, 41394199: 41394199
7CASKNM_003688.3(CASK): c.2506-2A> Tsingle nucleotide variantPathogenicrs398122845GRCh37Chr X, 41383289: 41383289

Expression for genes affiliated with Fg Syndrome 4

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Sources:
2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Fg Syndrome 4

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Pathways for genes affiliated with Fg Syndrome 4

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Compounds for genes affiliated with Fg Syndrome 4

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GO Terms for genes affiliated with Fg Syndrome 4

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Products for genes affiliated with Fg Syndrome 4

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Fg Syndrome 4

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet