FGS4
MCID: FGS004
MIFTS: 26

Fg Syndrome 4 (FGS4)

Categories: Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Fg Syndrome 4

MalaCards integrated aliases for Fg Syndrome 4:

Name: Fg Syndrome 4 56 52 73 29 13 6 71
Fgs4 56 52 73
X-Linked Intellectual Disability with or Without Nystagmus 52
Mental Retardation, with or Without Nystagmus 56
Fg Syndrome, Type 4 39

Characteristics:

HPO:

31
fg syndrome 4:
Inheritance x-linked inheritance


Classifications:



Summaries for Fg Syndrome 4

OMIM : 56 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 cask-related disorders. An important gene associated with Fg Syndrome 4 is CASK (Calcium/Calmodulin Dependent Serine Protein Kinase). Affiliated tissues include brain and cerebellum, and related phenotypes are seizures and scoliosis

UniProtKB/Swiss-Prot : 73 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 11.6
2 cask-related disorders 11.4
3 fg syndrome 2 10.2
4 fg syndrome 3 10.2
5 med12-related disorders 10.2

Graphical network of the top 20 diseases related to Fg Syndrome 4:



Diseases related to Fg Syndrome 4

Symptoms & Phenotypes for Fg Syndrome 4

Human phenotypes related to Fg Syndrome 4:

31 (show all 10)
# Description HPO Frequency HPO Source Accession
1 seizures 31 very rare (1%) HP:0001250
2 scoliosis 31 very rare (1%) HP:0002650
3 neonatal hypotonia 31 very rare (1%) HP:0001319
4 sensorineural hearing impairment 31 very rare (1%) HP:0000407
5 feeding difficulties in infancy 31 very rare (1%) HP:0008872
6 prominent forehead 31 very rare (1%) HP:0011220
7 hypertelorism 31 HP:0000316
8 intellectual disability 31 HP:0001249
9 global developmental delay 31 HP:0001263
10 wide nasal bridge 31 HP:0000431

Clinical features from OMIM:

300422

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

MalaCards organs/tissues related to Fg Syndrome 4:

40
Brain, Cerebellum

Publications for Fg Syndrome 4

Articles related to Fg Syndrome 4:

# Title Authors PMID Year
1
A missense mutation in CASK causes FG syndrome in an Italian family. 61 6 56
19200522 2009
2
CASK mutations are frequent in males and cause X-linked nystagmus and variable XLMR phenotypes. 56 6
20029458 2010
3
A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation. 56 6
19377476 2009
4
Genetic heterogeneity of FG syndrome: a fourth locus (FGS4) maps to Xp11.4-p11.3 in an Italian family. 61 56
12522552 2003
5
CASK-Related Disorders 6
24278995 2013
6
Mutations of CASK cause an X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellum. 56
19165920 2008
7
Studies of malformation syndromes of man 33: the FG syndrome. An X-linked recessive syndrome of multiple congenital anomalies and mental retardation. 56
4365204 1974
8
A de novo splice site mutation in CASK causes FG syndrome-4 and congenital nystagmus. 61
28139025 2017

Variations for Fg Syndrome 4

ClinVar genetic disease variations for Fg Syndrome 4:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CASK NM_003688.3(CASK):c.2740T>C (p.Trp914Arg)SNV Pathogenic 11535 rs137852819 X:41379699-41379699 X:41520446-41520446
2 CASK NM_003688.3(CASK):c.83G>T (p.Arg28Leu)SNV Pathogenic 11532 rs137852816 X:41712457-41712457 X:41853204-41853204
3 CASK NM_003688.3(CASK):c.802T>C (p.Tyr268His)SNV Pathogenic 11533 rs137852817 X:41519721-41519721 X:41660468-41660468
4 CASK NM_003688.3(CASK):c.846C>G (p.Tyr282Ter)SNV Pathogenic 434588 rs886128077 X:41495900-41495900 X:41636647-41636647
5 CASK NM_003688.3(CASK):c.913_914dup (p.Gly306fs)duplication Pathogenic 689749 X:41495831-41495832 X:41636578-41636579
6 CASK NM_003688.3(CASK):c.2546T>C (p.Val849Ala)SNV Likely pathogenic 619127 rs1569283243 X:41383247-41383247 X:41523994-41523994
7 CASK NM_003688.3(CASK):c.2168A>G (p.Tyr723Cys)SNV Likely pathogenic 29937 rs398122844 X:41394199-41394199 X:41534946-41534946
8 CASK NM_003688.3(CASK):c.2129A>G (p.Asp710Gly)SNV Likely pathogenic 11534 rs137852818 X:41401970-41401970 X:41542717-41542717
9 CASK NM_003688.3(CASK):c.1186C>T (p.Pro396Ser)SNV Uncertain significance 11536 rs137852820 X:41448815-41448815 X:41589562-41589562
10 CASK NM_003688.3(CASK):c.2506-2A>TSNV Benign 29938 rs398122845 X:41383289-41383289 X:41524036-41524036

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

73
# Symbol AA change Variation ID SNP ID
1 CASK p.Arg28Leu VAR_058719 rs137852816

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

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