Fg Syndrome 2 (FGS2)

Categories: Genetic diseases, Rare diseases
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Aliases & Classifications for Fg Syndrome 2

MalaCards integrated aliases for Fg Syndrome 2:

Name: Fg Syndrome 2 57 19 73 28 12 5 71
Fgs2 57 19 73
Fg Syndrome, Type 2 38



X-linked 57


57 (Updated 24-Oct-2022)
based on report of 1 patient


External Ids:

OMIM® 57 300321
OMIM Phenotypic Series 57 PS305400
MedGen 40 C1845902
UMLS 71 C1845902

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) (Updated 24-Oct-2022)

MalaCards based summary: Fg Syndrome 2, also known as fgs2, is related to opitz-kaveggia syndrome and constipation. An important gene associated with Fg Syndrome 2 is FLNA (Filamin A). Related phenotypes are constipation and delayed speech and language development

GARD: 19 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).

UniProtKB/Swiss-Prot: 73 FG syndrome (FGS) is an X-linked disorder characterized by intellectual disability, 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 11.0
2 constipation 10.0
3 turner syndrome 10.0
4 hypotonia 10.0

Symptoms & Phenotypes for Fg Syndrome 2

Human phenotypes related to Fg Syndrome 2:

30 (show all 10)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 constipation 30 HP:0002019
2 delayed speech and language development 30 HP:0000750
3 neonatal hypotonia 30 HP:0001319
4 prominent forehead 30 HP:0011220
5 protruding ear 30 HP:0000411
6 large forehead 30 HP:0002003
7 decreased body weight 30 HP:0004325
8 broad hallux 30 HP:0010055
9 underdeveloped superior crus of antihelix 30 HP:0011246
10 frontal upsweep of hair 30 HP:0002236

Symptoms via clinical synopsis from OMIM®:

57 (Updated 24-Oct-2022)
Abdomen Gastrointestinal:
normal placement of anus

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

Skeletal Feet:
broad halluces

Head And Neck Mouth:
relatively small mouth

Neurologic Central Nervous System:
language delay, mild

Head And Neck Face:
prominent forehead
rounded forehead

Growth Weight:
low weight

Laboratory Abnormalities:
normal karyotype

Skin Nails Hair Hair:
frontal upsweep of hair with cowlick

Clinical features from OMIM®:

300321 (Updated 24-Oct-2022)

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 PMID Year
Filamin A mutation is one cause of FG syndrome. 62 57 5
17632775 2007
A filamin A splice mutation resulting in a syndrome of facial dysmorphism, periventricular nodular heterotopia, and severe constipation reminiscent of cerebro-fronto-facial syndrome. 57 5
16299064 2006
Mapping of X chromosome inversion breakpoints [inv(X)(q11q28)] associated with FG syndrome: a second FG locus [FGS2]? 62 57
11078572 2000
Paracentric inversion of the X chromosome [inv(X)(q12q28)] in familial FG syndrome. 57
10449643 1999
Controlled synthesis of graphene oxide/silica hybrid nanocomposites for removal of aromatic pollutants in water. 62
35487929 2022
FG syndrome: the FGS2 locus revisited. 62
22528511 2012
An examination of anatomic, physiologic, and metabolic factors associated with well-being of broilers differing in field gait score. 62
19096050 2009
Genetic heterogeneity of FG syndrome: a fourth locus (FGS4) maps to Xp11.4-p11.3 in an Italian family. 62
12522552 2003
FG syndrome: linkage analysis in two families supporting a new gene localization at Xp22.3 [FGS3]. 62
12239712 2002

Variations for Fg Syndrome 2

ClinVar genetic disease variations for Fg Syndrome 2:

5 (show all 28)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 FLNA NM_001110556.2(FLNA):c.3872C>T (p.Pro1291Leu) SNV Pathogenic
11774 rs137853319 GRCh37: X:153588207-153588207
GRCh38: X:154359839-154359839
2 FLNA NM_001110556.2(FLNA):c.3495del (p.Ser1166fs) DEL Likely Pathogenic
977908 GRCh37: X:153588668-153588668
GRCh38: X:154360300-154360300
3 FLNA NM_001110556.2(FLNA):c.1399C>T (p.Arg467Cys) SNV Uncertain Significance
589369 rs367948333 GRCh37: X:153594422-153594422
GRCh38: X:154366054-154366054
4 FLNA NM_001110556.2(FLNA):c.4381G>A (p.Gly1461Ser) SNV Uncertain Significance
1030453 rs868967647 GRCh37: X:153587445-153587445
GRCh38: X:154359077-154359077
5 FLNA NM_001110556.2(FLNA):c.7294G>A (p.Val2432Met) SNV Uncertain Significance
1321249 GRCh37: X:153578438-153578438
GRCh38: X:154350070-154350070
6 FLNA NM_001110556.2(FLNA):c.546G>C (p.Gln182His) SNV Uncertain Significance
548502 rs1557179648 GRCh37: X:153596286-153596286
GRCh38: X:154367918-154367918
7 FLNA NM_001110556.2(FLNA):c.2122C>T (p.Arg708Trp) SNV Uncertain Significance
587465 rs782287086 GRCh37: X:153592641-153592641
GRCh38: X:154364273-154364273
8 FLNA NM_001110556.2(FLNA):c.569G>A (p.Arg190Gln) SNV Uncertain Significance
213491 rs782447567 GRCh37: X:153596263-153596263
GRCh38: X:154367895-154367895
9 LOC107988032, FLNA NM_001110556.2(FLNA):c.7628G>A (p.Cys2543Tyr) SNV Uncertain Significance
392335 GRCh37: X:153577858-153577858
GRCh38: X:154349490-154349490
10 FLNA NM_001110556.2(FLNA):c.6863G>A (p.Arg2288His) SNV Uncertain Significance
465015 rs782275601 GRCh37: X:153580296-153580296
GRCh38: X:154351928-154351928
11 FLNA NM_001110556.2(FLNA):c.6376C>T (p.Pro2126Ser) SNV Uncertain Significance
533577 rs782400832 GRCh37: X:153581143-153581143
GRCh38: X:154352775-154352775
12 FLNA NM_001110556.2(FLNA):c.2254G>A (p.Val752Ile) SNV Uncertain Significance
432226 rs1297013254 GRCh37: X:153592416-153592416
GRCh38: X:154364048-154364048
13 FLNA NM_001110556.2(FLNA):c.2974A>G (p.Thr992Ala) SNV Uncertain Significance
588552 rs782445995 GRCh37: X:153589909-153589909
GRCh38: X:154361541-154361541
14 FLNA NM_001110556.2(FLNA):c.2364G>A (p.Glu788=) SNV Uncertain Significance
625949 rs1448428046 GRCh37: X:153591069-153591069
GRCh38: X:154362701-154362701
15 FLNA NM_001110556.2(FLNA):c.5764G>A (p.Val1922Met) SNV Uncertain Significance
1163702 GRCh37: X:153582018-153582018
GRCh38: X:154353650-154353650
16 FLNA NM_001110556.2(FLNA):c.6725G>A (p.Arg2242Gln) SNV Uncertain Significance
435203 rs781984274 GRCh37: X:153580593-153580593
GRCh38: X:154352225-154352225
17 FLNA NM_001110556.2(FLNA):c.3323G>A (p.Cys1108Tyr) SNV Uncertain Significance
93756 rs371677498 GRCh37: X:153588840-153588840
GRCh38: X:154360472-154360472
18 FLNA NM_001110556.2(FLNA):c.901C>T (p.Arg301Trp) SNV Uncertain Significance
198133 rs192609440 GRCh37: X:153595186-153595186
GRCh38: X:154366818-154366818
19 FLNA NM_001110556.2(FLNA):c.494A>G (p.Lys165Arg) SNV Uncertain Significance
625951 rs1569551874 GRCh37: X:153596338-153596338
GRCh38: X:154367970-154367970
20 FLNA NM_001110556.2(FLNA):c.4314C>G (p.Phe1438Leu) SNV Uncertain Significance
625948 rs1557177412 GRCh37: X:153587512-153587512
GRCh38: X:154359144-154359144
21 FLNA NM_001110556.2(FLNA):c.1204A>G (p.Thr402Ala) SNV Uncertain Significance
625950 rs1569551838 GRCh37: X:153594700-153594700
GRCh38: X:154366332-154366332
22 FLNA NM_001110556.2(FLNA):c.3256G>A (p.Ala1086Thr) SNV Uncertain Significance
816867 rs782632029 GRCh37: X:153588907-153588907
GRCh38: X:154360539-154360539
23 FLNA NM_001110556.2(FLNA):c.6719A>G (p.Lys2240Arg) SNV Uncertain Significance
211024 rs797045581 GRCh37: X:153580599-153580599
GRCh38: X:154352231-154352231
24 FLNA NM_001110556.2(FLNA):c.5143C>T (p.Pro1715Ser) SNV Uncertain Significance
1699327 GRCh37: X:153583267-153583267
GRCh38: X:154354899-154354899
25 FLNA NM_001110556.2(FLNA):c.3260G>A (p.Arg1087His) SNV Uncertain Significance
533573 rs369668866 GRCh37: X:153588903-153588903
GRCh38: X:154360535-154360535
26 FLNA NM_001110556.2(FLNA):c.1684G>C (p.Gly562Arg) SNV Likely Benign
977839 GRCh37: X:153593511-153593511
GRCh38: X:154365143-154365143
27 FLNA NM_001110556.2(FLNA):c.1479G>C (p.Lys493Asn) SNV Likely Benign
464974 rs1557179001 GRCh37: X:153593805-153593805
GRCh38: X:154365437-154365437
28 FLNA NM_001110556.2(FLNA):c.1571G>A (p.Gly524Glu) SNV Not Provided
440936 rs1557178957 GRCh37: X:153593624-153593624
GRCh38: X:154365256-154365256

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

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

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

8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
27 GO
28 GTR
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
36 LifeMap
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 24-Oct-2022)
61 PubChem
62 PubMed
70 Tocris
72 UMLS via Orphanet
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