FGS4
MCID: FGS004
MIFTS: 25

Fg Syndrome 4 (FGS4) malady

Categories: Genetic diseases, Neuronal diseases, Mental diseases

Aliases & Classifications for Fg Syndrome 4

Aliases & Descriptions for Fg Syndrome 4:

Name: Fg Syndrome 4 54 66 29 13 69
Mental Retardation, with or Without Nystagmus 54
Fgs4 66

Characteristics:

HPO:

32
fg syndrome 4:
Inheritance x-linked inheritance


Classifications:



External Ids:

OMIM 54 300422

Summaries for Fg Syndrome 4

OMIM : 54 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 x-linked intellectual disability with or without nystagmus and cask-related disorders, and has symptoms including seizures, hypertelorism and intellectual disability. 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.

UniProtKB/Swiss-Prot : 66 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 seizures 32 HP:0001250
2 hypertelorism 32 HP:0000316
3 intellectual disability 32 HP:0001249
4 scoliosis 32 HP:0002650
5 global developmental delay 32 HP:0001263
6 wide nasal bridge 32 HP:0000431
7 sensorineural hearing impairment 32 HP:0000407
8 neonatal hypotonia 32 HP:0001319
9 feeding difficulties in infancy 32 HP:0008872
10 prominent forehead 32 HP:0011220

Drugs & Therapeutics for Fg Syndrome 4

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

(show all 21)
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 Phase 4 68521-88-0, 11128-99-7 65143 172198
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
13
Benzocaine Approved Phase 3 1994-09-7, 94-09-7 2337
14
Peginterferon alfa-2a Approved, Investigational Phase 3 198153-51-4 5360545
15
Ribavirin Approved Phase 3 36791-04-5 37542
16 tannic acid Approved, Nutraceutical Phase 3
17 Anti-Infective Agents Phase 3
18 Antimetabolites Phase 3
19 Antiviral Agents Phase 3
20 interferons Phase 3
21 Liver Extracts Phase 3

Interventional clinical trials:


id Name Status NCT ID Phase
1 Prevention of Diabetes and Hypertension Terminated NCT00456963 Phase 4
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
4 Eltrombopag To Initiate And Maintain Interferon Antiviral Treatment To Subjects With Hepatitis C Related Liver Disease Completed NCT00516321 Phase 3
5 JET-GBS - Japanese Eculizumab Trial for GBS Completed NCT02493725 Phase 2
6 EYESHOT (EmploYEd Antithrombotic Therapies in Patients With Acute Coronary Syndromes HOspitalized in iTalian Coronary Care Units) Completed NCT02015624
7 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

Publications for Fg Syndrome 4

Variations for Fg Syndrome 4

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

66
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 Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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