FGS4
MCID: FGS004
MIFTS: 19

Fg Syndrome 4 (FGS4) malady

Genetic diseases, Rare diseases categories

Summaries for Fg Syndrome 4

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Looking for an antibody for researching fg syndrome 4?

CASK antibody
OMIM:46 FG syndrome-4 is an X-linked recessive mental retardation syndrome characterized by congenital hypotonia, constipation,...300422 more...

MalaCards based summary: Fg Syndrome 4, also known as FGS4, is related to fg syndrome and focal segmental glomerulosclerosis, and has symptoms including neonatal hypotonia, seizures and feeding difficulties in infancy. An important gene associated with Fg Syndrome 4 is CASK (calcium/calmodulin-dependent serine protein kinase (MAGUK family)).

Aliases & Classifications for Fg Syndrome 4

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Fg Syndrome 4, Aliases & Descriptions:

Name: Fg Syndrome 4 42 23 46 61
 
Fgs4 42


Classifications:

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


Related Diseases for Fg Syndrome 4

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

idRelated DiseaseScoreTop Affiliating Genes
1fg syndrome10.2
2focal segmental glomerulosclerosis10.1

Symptoms for Fg Syndrome 4

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Clinical features from OMIM:

300422

HPO human phenotypes related to Fg Syndrome 4:

(show all 11)
id Description Frequency HPO Source Accession
1 neonatal hypotonia 6% HP:0001319
2 seizures rare (5%) HP:0001250
3 feeding difficulties in infancy rare (5%) HP:0008872
4 sensorineural hearing impairment 4% HP:0000407
5 prominent forehead 3% HP:0011220
6 scoliosis 2% HP:0002650
7 hypertelorism HP:0000316
8 wide nasal bridge HP:0000431
9 intellectual disability HP:0001249
10 global developmental delay HP:0001263
11 x-linked inheritance HP:0001417

Drugs & Therapeutics for Fg Syndrome 4

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Drug clinical trials:

Search ClinicalTrials for Fg Syndrome 4

Search NIH Clinical Center for Fg Syndrome 4

Genetic Tests for Fg Syndrome 4

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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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UniProtKB/Swiss-Prot genetic disease variations for Fg Syndrome 4:

63
id Symbol AA change Variation ID SNP ID
1CASKp.Arg28LeuVAR_058719

Clinvar genetic disease variations for Fg Syndrome 4:

7
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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Expression patterns in normal tissues for genes affiliated with Fg Syndrome 4

Search GEO for disease gene expression data for Fg Syndrome 4.

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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Sources for Fg Syndrome 4

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
29IUPHAR
30KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet