FGS2
MCID: FGS002
MIFTS: 28

Fg Syndrome 2 (FGS2)

Categories: Genetic diseases, Rare diseases

Aliases & Classifications for Fg Syndrome 2

MalaCards integrated aliases for Fg Syndrome 2:

Name: Fg Syndrome 2 57 20 72 29 13 6 70
Fgs2 57 20 72
Fg Syndrome, Type 2 39

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
x-linked

Miscellaneous:
based on report of 1 patient


HPO:

31
fg syndrome 2:
Inheritance x-linked inheritance


Classifications:



External Ids:

OMIM® 57 300321
OMIM Phenotypic Series 57 PS305400
MedGen 41 C1845902
UMLS 70 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 05-Apr-2021)

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

UniProtKB/Swiss-Prot : 72 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

Graphical network of the top 20 diseases related to Fg Syndrome 2:



Diseases related to Fg Syndrome 2

Symptoms & Phenotypes for Fg Syndrome 2

Human phenotypes related to Fg Syndrome 2:

31 (show all 10)
# Description HPO Frequency HPO Source Accession
1 constipation 31 HP:0002019
2 delayed speech and language development 31 HP:0000750
3 neonatal hypotonia 31 HP:0001319
4 prominent forehead 31 HP:0011220
5 protruding ear 31 HP:0000411
6 large forehead 31 HP:0002003
7 decreased body weight 31 HP:0004325
8 broad hallux 31 HP:0010055
9 underdeveloped superior crus of antihelix 31 HP:0011246
10 frontal upsweep of hair 31 HP:0002236

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Abdomen Gastrointestinal:
constipation
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 05-Apr-2021)

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

Articles related to Fg Syndrome 2:

# Title Authors PMID Year
1
Filamin A mutation is one cause of FG syndrome. 57 6 61
17632775 2007
2
A filamin A splice mutation resulting in a syndrome of facial dysmorphism, periventricular nodular heterotopia, and severe constipation reminiscent of cerebro-fronto-facial syndrome. 6 57
16299064 2006
3
Mapping of X chromosome inversion breakpoints [inv(X)(q11q28)] associated with FG syndrome: a second FG locus [FGS2]? 57 61
11078572 2000
4
Paracentric inversion of the X chromosome [inv(X)(q12q28)] in familial FG syndrome. 57
10449643 1999
5
FG syndrome: the FGS2 locus revisited. 61
22528511 2012
6
An examination of anatomic, physiologic, and metabolic factors associated with well-being of broilers differing in field gait score. 61
19096050 2009
7
Genetic heterogeneity of FG syndrome: a fourth locus (FGS4) maps to Xp11.4-p11.3 in an Italian family. 61
12522552 2003
8
FG syndrome: linkage analysis in two families supporting a new gene localization at Xp22.3 [FGS3]. 61
12239712 2002

Variations for Fg Syndrome 2

ClinVar genetic disease variations for Fg Syndrome 2:

6 (show all 25)
# 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) Deletion Likely pathogenic 977908 GRCh37: X:153588668-153588668
GRCh38: X:154360300-154360300
3 FLNA NM_001110556.2(FLNA):c.3256G>A (p.Ala1086Thr) SNV Uncertain significance 816867 rs782632029 GRCh37: X:153588907-153588907
GRCh38: X:154360539-154360539
4 FLNA NM_001110556.2(FLNA):c.546G>C (p.Gln182His) SNV Uncertain significance 548502 rs1557179648 GRCh37: X:153596286-153596286
GRCh38: X:154367918-154367918
5 FLNA NM_001110556.2(FLNA):c.2122C>T (p.Arg708Trp) SNV Uncertain significance 587465 rs782287086 GRCh37: X:153592641-153592641
GRCh38: X:154364273-154364273
6 FLNA NM_001110556.2(FLNA):c.6725G>A (p.Arg2242Gln) SNV Uncertain significance 435203 rs781984274 GRCh37: X:153580593-153580593
GRCh38: X:154352225-154352225
7 FLNA NM_001110556.2(FLNA):c.6376C>T (p.Pro2126Ser) SNV Uncertain significance 533577 rs782400832 GRCh37: X:153581143-153581143
GRCh38: X:154352775-154352775
8 FLNA NM_001110556.2(FLNA):c.4314C>G (p.Phe1438Leu) SNV Uncertain significance 625948 rs1557177412 GRCh37: X:153587512-153587512
GRCh38: X:154359144-154359144
9 FLNA NM_001110556.2(FLNA):c.2974A>G (p.Thr992Ala) SNV Uncertain significance 588552 rs782445995 GRCh37: X:153589909-153589909
GRCh38: X:154361541-154361541
10 FLNA NM_001110556.2(FLNA):c.2364G>A (p.Glu788=) SNV Uncertain significance 625949 rs1448428046 GRCh37: X:153591069-153591069
GRCh38: X:154362701-154362701
11 FLNA NM_001110556.2(FLNA):c.1204A>G (p.Thr402Ala) SNV Uncertain significance 625950 rs1569551838 GRCh37: X:153594700-153594700
GRCh38: X:154366332-154366332
12 FLNA NM_001110556.2(FLNA):c.494A>G (p.Lys165Arg) SNV Uncertain significance 625951 rs1569551874 GRCh37: X:153596338-153596338
GRCh38: X:154367970-154367970
13 LOC107988032 , FLNA NM_001110556.2(FLNA):c.7628G>A (p.Cys2543Tyr) SNV Uncertain significance 392335 GRCh37: X:153577858-153577858
GRCh38: X:154349490-154349490
14 FLNA NM_001110556.2(FLNA):c.6863G>A (p.Arg2288His) SNV Uncertain significance 465015 rs782275601 GRCh37: X:153580296-153580296
GRCh38: X:154351928-154351928
15 FLNA NM_001110556.2(FLNA):c.901C>T (p.Arg301Trp) SNV Uncertain significance 198133 rs192609440 GRCh37: X:153595186-153595186
GRCh38: X:154366818-154366818
16 FLNA NM_001110556.2(FLNA):c.6719A>G (p.Lys2240Arg) SNV Uncertain significance 211024 rs797045581 GRCh37: X:153580599-153580599
GRCh38: X:154352231-154352231
17 FLNA NM_001110556.2(FLNA):c.2254G>A (p.Val752Ile) SNV Uncertain significance 432226 rs1297013254 GRCh37: X:153592416-153592416
GRCh38: X:154364048-154364048
18 FLNA NM_001110556.2(FLNA):c.3323G>A (p.Cys1108Tyr) SNV Uncertain significance 93756 rs371677498 GRCh37: X:153588840-153588840
GRCh38: X:154360472-154360472
19 FLNA NM_001110556.2(FLNA):c.569G>A (p.Arg190Gln) SNV Uncertain significance 213491 rs782447567 GRCh37: X:153596263-153596263
GRCh38: X:154367895-154367895
20 FLNA NM_001110556.2(FLNA):c.1399C>T (p.Arg467Cys) SNV Uncertain significance 589369 rs367948333 GRCh37: X:153594422-153594422
GRCh38: X:154366054-154366054
21 FLNA NM_001110556.2(FLNA):c.3260G>A (p.Arg1087His) SNV Uncertain significance 533573 rs369668866 GRCh37: X:153588903-153588903
GRCh38: X:154360535-154360535
22 FLNA NM_001110556.2(FLNA):c.4381G>A (p.Gly1461Ser) SNV Uncertain significance 1030453 GRCh37: X:153587445-153587445
GRCh38: X:154359077-154359077
23 FLNA NM_001110556.2(FLNA):c.1479G>C (p.Lys493Asn) SNV Likely benign 464974 rs1557179001 GRCh37: X:153593805-153593805
GRCh38: X:154365437-154365437
24 FLNA NM_001110556.2(FLNA):c.1684G>C (p.Gly562Arg) SNV Likely benign 977839 GRCh37: X:153593511-153593511
GRCh38: X:154365143-154365143
25 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:

72
# 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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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