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 57 53 75 29 13 6 73
Fgs2 57 53 75
Fg Syndrome, Type 2 40

Characteristics:

OMIM:

57
Inheritance:
x-linked

Miscellaneous:
based on report of 1 patient


HPO:

32
fg syndrome 2:
Inheritance x-linked inheritance


Classifications:



Summaries for Fg Syndrome 2

OMIM : 57 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. An important gene associated with Fg Syndrome 2 is FLNA (Filamin A). Related phenotypes are constipation and delayed speech and language development

UniProtKB/Swiss-Prot : 75 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

Symptoms via clinical synopsis from OMIM:

57
Growth Weight:
low weight

Head And Neck Ears:
prominent ears
hypoplasia of the upper crus of the antihelix

Abdomen Gastrointestinal:
constipation
normal placement of anus

Skin Nails Hair Hair:
frontal upsweep of hair with cowlick

Laboratory Abnormalities:
normal karyotype

Head And Neck Face:
prominent forehead
rounded forehead

Head And Neck Mouth:
relatively small mouth

Skeletal Feet:
broad halluces

Neurologic Central Nervous System:
language delay, mild


Clinical features from OMIM:

300321

Human phenotypes related to Fg Syndrome 2:

32
# Description HPO Frequency HPO Source Accession
1 constipation 32 HP:0002019
2 delayed speech and language development 32 HP:0000750
3 neonatal hypotonia 32 HP:0001319
4 large forehead 32 HP:0002003
5 underdeveloped superior crus of antihelix 32 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 29 FLNA

Anatomical Context for Fg Syndrome 2

Publications for Fg Syndrome 2

Variations for Fg Syndrome 2

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

75
# 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.6248_6249insTGTC (p.Ile2084Valfs) insertion Pathogenic rs1057515584 GRCh37 Chromosome X, 153581270: 153581271
2 FLNA NM_001110556.1(FLNA): c.6248_6249insTGTC (p.Ile2084Valfs) insertion Pathogenic rs1057515584 GRCh38 Chromosome X, 154352902: 154352903
3 FLNA NM_001110556.1(FLNA): c.1571G> A (p.Gly524Glu) single nucleotide variant not provided GRCh37 Chromosome X, 153593624: 153593624
4 FLNA NM_001110556.1(FLNA): c.1571G> A (p.Gly524Glu) single nucleotide variant not provided GRCh38 Chromosome X, 154365256: 154365256

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
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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