MCID: FGS004
MIFTS: 27

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 54 71 29 13 69
Mental Retardation, with or Without Nystagmus 54
Fgs4 71

Characteristics:

HPO:

32
fg syndrome 4:
Inheritance x-linked inheritance


Classifications:



Summaries for Fg Syndrome 4

OMIM : 54
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 mental retardation, with or without nystagmus, is related to x-linked intellectual disability with or without nystagmus and cask-related disorders, and has symptoms including scoliosis, seizures and prominent forehead. An important gene associated with Fg Syndrome 4 is CASK (Calcium/Calmodulin Dependent Serine Protein Kinase). The drugs Enalapril and Enalaprilat have been mentioned in the context of this disorder. Affiliated tissues include ovary.

UniProtKB/Swiss-Prot : 71 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:

id Related Disease Score Top Affiliating Genes
1 x-linked intellectual disability with or without nystagmus 11.1
2 cask-related disorders 10.9

Symptoms & Phenotypes for Fg Syndrome 4

Clinical features from OMIM:

300422

Human phenotypes related to Fg Syndrome 4:

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

Drugs & Therapeutics for Fg Syndrome 4

Drugs for Fg Syndrome 4 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 12)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Enalapril Approved, Vet_approved Phase 4 75847-73-3 5362032 40466924
2
Enalaprilat Approved Phase 4 76420-72-9 6917719
3
Losartan Approved Phase 4 114798-26-4 3961
4
Angiotensin II Investigational Phase 4 68521-88-0, 4474-91-3, 11128-99-7 172198 65143
5 Angiotensin II Type 1 Receptor Blockers Phase 4
6 Angiotensin Receptor Antagonists Phase 4
7 Angiotensin-Converting Enzyme Inhibitors Phase 4
8 Angiotensinogen Phase 4
9 Anti-Arrhythmia Agents Phase 4
10 Antihypertensive Agents Phase 4
11 HIV Protease Inhibitors Phase 4
12
protease inhibitors Phase 4

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Prevention of Diabetes and Hypertension Terminated NCT00456963 Phase 4 enalapril tablets;placebo tablets;Losartan Tablets
2 FAST as a Treatment for Obstructive Sleep Apnea Terminated NCT01611779 Phase 4
3 Phase III Clinical Trial of NPB-01 in Patients With Guillain-Barré Syndrome Completed NCT02221271 Phase 3 NPB-01
4 JET-GBS - Japanese Eculizumab Trial for GBS Completed NCT02493725 Phase 2 Eculizumab;Placebo
5 EYESHOT (EmploYEd Antithrombotic Therapies in Patients With Acute Coronary Syndromes HOspitalized in iTalian Coronary Care Units) Completed NCT02015624
6 Electroacupuncture on Hormonal and Glycometabolic Profiles in Women With Polycystic Ovary Syndrome: Study Protocol Not yet recruiting NCT02653911

Search NIH Clinical Center for Fg Syndrome 4

Genetic Tests for Fg Syndrome 4

Genetic tests related to Fg Syndrome 4:

id Genetic test Affiliating Genes
1 Fg Syndrome 4 29

Anatomical Context for Fg Syndrome 4

MalaCards organs/tissues related to Fg Syndrome 4:

39
Ovary

Publications for Fg Syndrome 4

Variations for Fg Syndrome 4

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

71
id Symbol AA change Variation ID SNP ID
1 CASK p.Arg28Leu VAR_058719 rs137852816

ClinVar genetic disease variations for Fg Syndrome 4:

6
id 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.802T> C (p.Tyr268His) single nucleotide variant Pathogenic rs137852817 GRCh37 Chromosome X, 41519721: 41519721
3 CASK NM_003688.3(CASK): c.2129A> G (p.Asp710Gly) single nucleotide variant Pathogenic rs137852818 GRCh37 Chromosome X, 41401970: 41401970
4 CASK NM_003688.3(CASK): c.2740T> C (p.Trp914Arg) single nucleotide variant Pathogenic rs137852819 GRCh37 Chromosome X, 41379699: 41379699
5 CASK NM_003688.3(CASK): c.1186C> T (p.Pro396Ser) single nucleotide variant Pathogenic rs137852820 GRCh37 Chromosome X, 41448815: 41448815
6 CASK NM_003688.3(CASK): c.2168A> G (p.Tyr723Cys) single nucleotide variant Pathogenic/Likely pathogenic rs398122844 GRCh37 Chromosome X, 41394199: 41394199
7 CASK NM_003688.3(CASK): c.79C> T (p.Arg27Ter) single nucleotide variant Pathogenic rs794727270 GRCh37 Chromosome X, 41712461: 41712461

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
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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