MCID: FGS004
MIFTS: 24

Fg Syndrome 4 malady

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

Summaries for Fg Syndrome 4

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OMIM:47 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 mental retardation, with or without nystagmus, is related to opitz-kaveggia 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 47 11 43 24 62
Mental Retardation, with or Without Nystagmus 47
 
Fgs4 43


Classifications:

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


External Ids:

OMIM47 300422

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
1opitz-kaveggia syndrome10.1
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 424

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:

64
id Symbol AA change Variation ID SNP ID
1CASKp.Arg28LeuVAR_058719

Clinvar genetic disease variations for Fg Syndrome 4:

7
id Gene Variation 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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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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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Fg Syndrome 4

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4CDC
15ExPASy
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet