MCID: FGS002
MIFTS: 18

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 53 49 71 28 13 69
Fgs2 53 49 71

Characteristics:

HPO:

31
fg syndrome 2:
Inheritance x-linked inheritance


Classifications:



Summaries for Fg Syndrome 2

OMIM : 53 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 opitz-kaveggia syndrome, and has symptoms including delayed speech and language development, neonatal hypotonia and large forehead. An important gene associated with Fg Syndrome 2 is FLNA (Filamin A).

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:

# Related Disease Score Top Affiliating Genes
1 opitz-kaveggia syndrome 11.3

Symptoms & Phenotypes for Fg Syndrome 2

Clinical features from OMIM:

300321

Human phenotypes related to Fg Syndrome 2:

31
# Description HPO Frequency HPO Source Accession
1 delayed speech and language development 31 HP:0000750
2 neonatal hypotonia 31 HP:0001319
3 large forehead 31 HP:0002003
4 constipation 31 HP:0002019
5 underdeveloped superior crus of antihelix 31 HP:0011246

Drugs & Therapeutics for Fg Syndrome 2

Search Clinical Trials , NIH Clinical Center for Fg Syndrome 2

Genetic Tests for Fg Syndrome 2

Genetic tests related to Fg Syndrome 2:

# Genetic test Affiliating Genes
1 Fg Syndrome 2 28 FLNA

Anatomical Context for Fg Syndrome 2

Publications for Fg Syndrome 2

Articles related to Fg Syndrome 2:

# Title Authors Year
1
FG syndrome: the FGS2 locus revisited. ( 22528511 )
2012
2
Mapping of X chromosome inversion breakpoints [inv(X)(q11q28)] associated with FG syndrome: a second FG locus [FGS2]? ( 11078572 )
2000

Variations for Fg Syndrome 2

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

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

ClinVar genetic disease variations for Fg Syndrome 2:

6
# 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
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 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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