MCID: FGS002
MIFTS: 27

Fg Syndrome 2

Categories: Genetic diseases, Rare diseases

Aliases & Classifications for Fg Syndrome 2

MalaCards integrated aliases for Fg Syndrome 2:

Name: Fg Syndrome 2 54 50 24 71 29 13 69
Fgs2 50 24 71

Characteristics:

HPO:

32
fg syndrome 2:
Inheritance x-linked inheritance


Classifications:



Summaries for Fg Syndrome 2

OMIM : 54
Although the phenotypic spectrum and severity of FG syndrome is wide, the cardinal features include congenital hypotonia, delayed speech development, relative macrocephaly, dysmorphic facies, and anal anomalies or severe constipation (Unger et al., 2007). For a general phenotypic description and a discussion of genetic heterogeneity of FG syndrome, see FGS1 (305450). (300321)

MalaCards based summary : Fg Syndrome 2, also known as fgs2, is related to focal segmental glomerulosclerosis and terminal osseous dysplasia, and has symptoms including neonatal hypotonia, constipation and large forehead. An important gene associated with Fg Syndrome 2 is FLNA (Filamin A). The drugs Enalapril and Enalaprilat have been mentioned in the context of this disorder. Affiliated tissues include ovary.

UniProtKB/Swiss-Prot : 71 FG syndrome 2: FG syndrome (FGS) is an X-linked disorder characterized by mental retardation, relative macrocephaly, hypotonia and constipation.

Related Diseases for Fg Syndrome 2

Diseases related to Fg Syndrome 2 via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 focal segmental glomerulosclerosis 10.9
2 terminal osseous dysplasia 9.5 FGS2 FLNA

Symptoms & Phenotypes for Fg Syndrome 2

Clinical features from OMIM:

300321

Human phenotypes related to Fg Syndrome 2:

32
id Description HPO Frequency HPO Source Accession
1 neonatal hypotonia 32 HP:0001319
2 constipation 32 HP:0002019
3 large forehead 32 HP:0002003
4 delayed speech and language development 32 HP:0000750
5 underdeveloped superior crus of antihelix 32 HP:0011246

Drugs & Therapeutics for Fg Syndrome 2

Drugs for Fg Syndrome 2 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 56)
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
13
Lenalidomide Approved Phase 2 191732-72-6 216326
14
Abacavir Approved, Investigational Phase 2 136470-78-5 65140 441300
15
Lamivudine Approved, Investigational Phase 2 134678-17-4 60825
16
Zidovudine Approved Phase 2 30516-87-1 35370
17
Deferasirox Approved, Investigational Phase 2 201530-41-8 5493381
18
Iron Approved Phase 2 7439-89-6 23925
19 Angiogenesis Inhibitors Phase 2
20 Angiogenesis Modulating Agents Phase 2
21 Anti-Bacterial Agents Phase 2
22 Anti-Infective Agents Phase 2
23 Immunosuppressive Agents Phase 2
24 Anti-HIV Agents Phase 2
25 Antimetabolites Phase 2
26 Anti-Retroviral Agents Phase 2
27 Antiviral Agents Phase 2
28 interferons Phase 2
29 Nucleic Acid Synthesis Inhibitors Phase 2
30 Pharmaceutical Solutions Phase 2
31 Reverse Transcriptase Inhibitors Phase 2
32 Chelating Agents Phase 2
33 Iron Chelating Agents Phase 2
34
Cyproterone Acetate Approved, Investigational 427-51-0
35
Estradiol Approved, Investigational, Vet_approved 50-28-2 5757
36
Metformin Approved 657-24-9 14219 4091
37 Neuroserpin
38 Androgen Antagonists
39 Androgens
40 Contraceptive Agents
41 Contraceptive Agents, Male
42 Contraceptives, Oral
43 Contraceptives, Oral, Combined
44
Cyproterone 2098-66-0 5284537
45 Estradiol 17 beta-cypionate
46 Estradiol 3-benzoate
47 Estradiol valerate 979-32-8
48 Estrogens
49 Hormone Antagonists
50 Hormones

Interventional clinical trials:

(show all 13)

id Name Status NCT ID Phase Drugs
1 Prevention of Diabetes and Hypertension Terminated NCT00456963 Phase 4 enalapril tablets;placebo tablets;Losartan Tablets
2 Efficacy and Safety Study of GB-0998 for Guillain-Barré Syndrome Completed NCT02342184 Phase 3 GB-0998
3 Phase III Clinical Trial of NPB-01 in Patients With Guillain-Barré Syndrome Completed NCT02221271 Phase 3 NPB-01
4 Efficacy and Safety of FG-4592 for Treatment of Anemia in Subjects With Lower Risk MDS Not yet recruiting NCT03303066 Phase 2, Phase 3 FG-4592;Placebo
5 JET-GBS - Japanese Eculizumab Trial for GBS Completed NCT02493725 Phase 2 Eculizumab;Placebo
6 Efficacy of Eltrombopag Plus Lenalidomide Combination Therapy in Patients With IPSS Low and Intermediate-risk Myelodysplastic Syndrome With Isolated del5q Recruiting NCT02928419 Phase 2 Eltrombopag/Revolade;Lenalidomide
7 Eltrombopag for the Treatment of Thrombocytopenia Due to Low- and Intermediate Risk Myelodysplastic Syndromes Recruiting NCT02912208 Phase 2 Eltrombopag/Revolade
8 Reverse Transcriptase Inhibitors in AGS Recruiting NCT02363452 Phase 2 Reverse transcriptase inhibitors: Zidovudine, Lamivudine, Abacavir
9 Myelodysplastic Syndromes (MDS) Event Free Survival With Iron Chelation Therapy Study Active, not recruiting NCT00940602 Phase 2 Deferasirox;Deferasirox placebo
10 Genetic Disease Gene Identification Unknown status NCT00916903
11 EYESHOT (EmploYEd Antithrombotic Therapies in Patients With Acute Coronary Syndromes HOspitalized in iTalian Coronary Care Units) Completed NCT02015624
12 OCP vs Metformin for Improvement in Clinical Symptoms and Metabolic Markers in Indian PCOS Women Recruiting NCT02744131 Oral contraceptive pill combination of ethyl estradiol and Cyproterone acetate;Metformin 1500mgs per day
13 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 2

Genetic Tests for Fg Syndrome 2

Genetic tests related to Fg Syndrome 2:

id Genetic test Affiliating Genes
1 Fg Syndrome 2 29 24 FLNA

Anatomical Context for Fg Syndrome 2

MalaCards organs/tissues related to Fg Syndrome 2:

39
Ovary

Publications for Fg Syndrome 2

Variations for Fg Syndrome 2

UniProtKB/Swiss-Prot genetic disease variations for Fg Syndrome 2:

71
id Symbol AA change Variation ID SNP ID
1 FLNA p.Pro1291Leu VAR_058721 rs137853319

ClinVar genetic disease variations for Fg Syndrome 2:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 FLNA NM_001110556.1(FLNA): c.3872C> T (p.Pro1291Leu) single nucleotide variant Pathogenic rs137853319 GRCh37 Chromosome X, 153588207: 153588207
2 FLNA NM_001110556.1(FLNA): c.6248_6249insTGTC (p.Ile2084Valfs) insertion Pathogenic rs1057515584 GRCh37 Chromosome X, 153581270: 153581271

Expression for Fg Syndrome 2

Search GEO for disease gene expression data for Fg Syndrome 2.

Pathways for Fg Syndrome 2

GO Terms for Fg Syndrome 2

Sources for Fg Syndrome 2

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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