MCID: FGS004
MIFTS: 19

Fg Syndrome 4

Categories: Genetic diseases, Neuronal diseases, Mental diseases

Aliases & Classifications for Fg Syndrome 4

MalaCards integrated aliases for Fg Syndrome 4:

Name: Fg Syndrome 4 57 75 29 13 6 73
Fgs4 57 75
Mental Retardation, with or Without Nystagmus 57
Fg Syndrome, Type 4 40

Characteristics:

HPO:

32
fg syndrome 4:
Inheritance x-linked inheritance


Classifications:



Summaries for Fg Syndrome 4

OMIM : 57 FG syndrome-4 is an X-linked recessive mental retardation syndrome characterized by congenital hypotonia, constipation, behavioral disturbances, and dysmorphic features (summary by Piluso et al., 2003). The name 'FG' derives from the first description of the disorder (FGS1; 305450) by Opitz and Kaveggia (1974), who named it 'FG syndrome' according to the Opitz system of using initials of patients' surnames. For a phenotypic description and a discussion of genetic heterogeneity of FG syndrome, see FGS1 (305450). FGS4 is typically associated with missense or hypomorphic mutations in the CASK gene. See also the more severe disorder MICPCH (300749), an allelic disorder caused by complete loss-of-function mutations in the CASK gene (Tarpey et al., 2009). (300422)

MalaCards based summary : Fg Syndrome 4, also known as fgs4, is related to opitz-kaveggia syndrome and x-linked intellectual disability with or without nystagmus. An important gene associated with Fg Syndrome 4 is CASK (Calcium/Calmodulin Dependent Serine Protein Kinase). Related phenotypes are hypertelorism and intellectual disability

UniProtKB/Swiss-Prot : 75 FG syndrome 4: FG syndrome (FGS) is an X-linked disorder characterized by mental retardation, relative macrocephaly, hypotonia and constipation.

Related Diseases for Fg Syndrome 4

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

# Related Disease Score Top Affiliating Genes
1 opitz-kaveggia syndrome 11.3
2 x-linked intellectual disability with or without nystagmus 11.2
3 cask-related disorders 11.1

Symptoms & Phenotypes for Fg Syndrome 4

Clinical features from OMIM:

300422

Human phenotypes related to Fg Syndrome 4:

32 (show all 10)
# Description HPO Frequency HPO Source Accession
1 hypertelorism 32 HP:0000316
2 intellectual disability 32 HP:0001249
3 seizures 32 very rare (1%) HP:0001250
4 scoliosis 32 very rare (1%) HP:0002650
5 global developmental delay 32 HP:0001263
6 wide nasal bridge 32 HP:0000431
7 sensorineural hearing impairment 32 very rare (1%) HP:0000407
8 neonatal hypotonia 32 very rare (1%) HP:0001319
9 feeding difficulties in infancy 32 very rare (1%) HP:0008872
10 prominent forehead 32 very rare (1%) HP:0011220

Drugs & Therapeutics for Fg Syndrome 4

Search Clinical Trials , NIH Clinical Center for Fg Syndrome 4

Genetic Tests for Fg Syndrome 4

Genetic tests related to Fg Syndrome 4:

# Genetic test Affiliating Genes
1 Fg Syndrome 4 29 CASK

Anatomical Context for Fg Syndrome 4

Publications for Fg Syndrome 4

Variations for Fg Syndrome 4

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

75
# Symbol AA change Variation ID SNP ID
1 CASK p.Arg28Leu VAR_058719 rs137852816

ClinVar genetic disease variations for Fg Syndrome 4:

6
(show all 16)
# Gene Variation Type Significance SNP ID Assembly Location
1 CASK NM_003688.3(CASK): c.83G> T (p.Arg28Leu) single nucleotide variant Pathogenic rs137852816 GRCh37 Chromosome X, 41712457: 41712457
2 CASK NM_003688.3(CASK): c.83G> T (p.Arg28Leu) single nucleotide variant Pathogenic rs137852816 GRCh38 Chromosome X, 41853204: 41853204
3 CASK NM_003688.3(CASK): c.802T> C (p.Tyr268His) single nucleotide variant Pathogenic rs137852817 GRCh37 Chromosome X, 41519721: 41519721
4 CASK NM_003688.3(CASK): c.802T> C (p.Tyr268His) single nucleotide variant Pathogenic rs137852817 GRCh38 Chromosome X, 41660468: 41660468
5 CASK NM_003688.3(CASK): c.2129A> G (p.Asp710Gly) single nucleotide variant Pathogenic rs137852818 GRCh37 Chromosome X, 41401970: 41401970
6 CASK NM_003688.3(CASK): c.2129A> G (p.Asp710Gly) single nucleotide variant Pathogenic rs137852818 GRCh38 Chromosome X, 41542717: 41542717
7 CASK NM_003688.3(CASK): c.2740T> C (p.Trp914Arg) single nucleotide variant Pathogenic rs137852819 GRCh37 Chromosome X, 41379699: 41379699
8 CASK NM_003688.3(CASK): c.2740T> C (p.Trp914Arg) single nucleotide variant Pathogenic rs137852819 GRCh38 Chromosome X, 41520446: 41520446
9 CASK NM_003688.3(CASK): c.1186C> T (p.Pro396Ser) single nucleotide variant Pathogenic rs137852820 GRCh37 Chromosome X, 41448815: 41448815
10 CASK NM_003688.3(CASK): c.1186C> T (p.Pro396Ser) single nucleotide variant Pathogenic rs137852820 GRCh38 Chromosome X, 41589562: 41589562
11 CASK NM_003688.3(CASK): c.2168A> G (p.Tyr723Cys) single nucleotide variant Likely pathogenic rs398122844 GRCh37 Chromosome X, 41394199: 41394199
12 CASK NM_003688.3(CASK): c.2168A> G (p.Tyr723Cys) single nucleotide variant Likely pathogenic rs398122844 GRCh38 Chromosome X, 41534946: 41534946
13 CASK NM_003688.3(CASK): c.55G> A (p.Gly19Arg) single nucleotide variant Likely pathogenic rs727503840 GRCh37 Chromosome X, 41782187: 41782187
14 CASK NM_003688.3(CASK): c.55G> A (p.Gly19Arg) single nucleotide variant Likely pathogenic rs727503840 GRCh38 Chromosome X, 41922934: 41922934
15 CASK NM_003688.3(CASK): c.79C> T (p.Arg27Ter) single nucleotide variant Pathogenic rs794727270 GRCh37 Chromosome X, 41712461: 41712461
16 CASK NM_003688.3(CASK): c.79C> T (p.Arg27Ter) single nucleotide variant Pathogenic rs794727270 GRCh38 Chromosome X, 41853208: 41853208

Expression for Fg Syndrome 4

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

Pathways for Fg Syndrome 4

GO Terms for Fg Syndrome 4

Sources for Fg Syndrome 4

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
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69 SNOMED-CT via HPO
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71 TGDB
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74 UMLS via Orphanet
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