MCID: FGS001
MIFTS: 32

Fg Syndrome malady

Genetic diseases, Rare diseases categories
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Summaries for Fg Syndrome

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MalaCards based summary: Fg Syndrome, also known as opitz-kaveggia syndrome, is related to fg syndrome 2 and mental retardation, and has symptoms including An important gene associated with Fg Syndrome is MED12 (mediator complex subunit 12), and among its related pathways is Thyroid hormone signaling pathway. Affiliated tissues include spinal cord and testes.

Descriptions from OMIM:46 300321,305450,300422

Aliases & Classifications for Fg Syndrome

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Sources:
8Disease Ontology, 62UMLS, 9diseasecard, 46OMIM, 48Orphanet, 57SNOMED-CT, 34MeSH, 26ICD10 via Orphanet
See all sources

Fg Syndrome, Aliases & Descriptions:

Name: Fg Syndrome 8 62
Opitz-Kaveggia Syndrome 8 9 46 48
 
Fg Syndrome Type 1 48
Keller Syndrome 8


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases


External Ids:

Disease Ontology8 DOID:14711
SNOMED-CT57 49984004
MeSH34 C537923
ICD10 via Orphanet26 Q87.8

Related Diseases for Fg Syndrome

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Diseases related to Fg Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 13)
idRelated DiseaseScoreTop Affiliating Genes
1fg syndrome 231.1FLNA
2mental retardation30.3CASK, FLNA, MED12
3focal segmental glomerulosclerosis30.0IGBP1, PRKX, MED12, RCOR1, CASK
4fg syndrome 410.5
5fg syndrome 310.4
6fg syndrome 510.3
7constipation10.2
8fg syndrome type 110.2
9hypotonia10.2
10intellectual disability multi-gene panels10.2CASK, MED12
11keloids10.1
12gingivitis10.1
13short stature10.1

Graphical network of diseases related to Fg Syndrome:



Diseases related to fg syndrome

Symptoms for Fg Syndrome

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Symptoms by clinical synopsis from OMIM:

305450

Clinical features from OMIM:

300321,305450,300422

HPO human phenotypes related to Fg Syndrome:

(show all 68)
id Description Frequency HPO Source Accession
1 frontal bossing 95% HP:0002007
2 frontal upsweep of hair 91% HP:0002236
3 motor delay hallmark (90%) HP:0001270
4 downslanted palpebral fissures 85% HP:0000494
5 hypertelorism 83% HP:0000316
6 joint swelling onset late infancy 81% HP:0005833
7 wide anterior fontanel 77% HP:0000260
8 postnatal macrocephaly 74% HP:0005490
9 seizures 70% HP:0001250
10 attention deficit hyperactivity disorder 70% HP:0007018
11 abnormality of the sternum 69% HP:0000766
12 constipation 69% HP:0002019
13 microtia, first degree 66% HP:0011266
14 single transverse palmar crease 60% HP:0000954
15 epicanthus 56% HP:0000286
16 joint contracture of the hand 55% HP:0009473
17 syndactyly 54% HP:0001159
18 radial deviation of finger 53% HP:0009466
19 strabismus 52% HP:0000486
20 prominent fingertip pads typical (50%) HP:0001212
21 thick lower lip vermilion 44% HP:0000179
22 choroidal sclerosis 38% HP:0001150
23 anteriorly placed anus 38% HP:0001545
24 anal stenosis 38% HP:0002025
25 cryptorchidism 36% HP:0000028
26 narrow palate 25% HP:0000189
27 sacral dimple 25% HP:0000960
28 partial agenesis of the corpus callosum 25% HP:0001338
29 fine hair 25% HP:0002213
30 multiple joint contractures 25% HP:0002828
31 short stature 25% HP:0004322
32 sparse hair 25% HP:0008070
33 facial wrinkling 25% HP:0009762
34 hypospadias occasional (7.5%) HP:0000047
35 cleft palate occasional (7.5%) HP:0000175
36 sensorineural hearing impairment occasional (7.5%) HP:0000407
37 choanal atresia occasional (7.5%) HP:0000453
38 short neck occasional (7.5%) HP:0000470
39 split hand occasional (7.5%) HP:0001171
40 high pitched voice occasional (7.5%) HP:0001620
41 abnormality of cardiac morphology occasional (7.5%) HP:0001627
42 pyloric stenosis occasional (7.5%) HP:0002021
43 intestinal malrotation occasional (7.5%) HP:0002566
44 inguinal hernia HP:0000023
45 wide mouth HP:0000154
46 cleft upper lip HP:0000204
47 hydrocephalus HP:0000238
48 long philtrum HP:0000343
49 micrognathia HP:0000347
50 prominent nose HP:0000448
51 dental crowding HP:0000678
52 intellectual disability HP:0001249
53 global developmental delay HP:0001263
54 neonatal hypotonia HP:0001319
55 plagiocephaly HP:0001357
56 x-linked recessive inheritance HP:0001419
57 delayed closure of the anterior fontanelle HP:0001476
58 umbilical hernia HP:0001537
59 abnormality of the nasopharynx HP:0001739
60 anal atresia HP:0002023
61 heterotopia HP:0002282
62 lumbar hyperlordosis HP:0002938
63 broad hallux HP:0010055
64 skin tags HP:0010609
65 prominent forehead HP:0011220
66 broad thumb HP:0011304
67 camptodactyly HP:0012385
68 clinodactyly HP:0030084

Drugs & Therapeutics for Fg Syndrome

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Drug clinical trials:

Search ClinicalTrials for Fg Syndrome

Search NIH Clinical Center for Fg Syndrome

Genetic Tests for Fg Syndrome

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Anatomical Context for Fg Syndrome

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MalaCards organs/tissues related to Fg Syndrome:

32
Spinal cord, Testes

Animal Models for Fg Syndrome or affiliated genes

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Publications for Fg Syndrome

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Articles related to Fg Syndrome:

(show top 50)    (show all 52)
idTitleAuthorsYear
1
The FG syndrome from a pathological perspective. (21391746)
2011
2
A novel mutation in MED12 causes FG syndrome (Opitz-Kaveggia syndrome). (20507344)
2011
3
Behavioral features in young adults with FG syndrome (Opitz-Kaveggia syndrome). (20981778)
2010
4
A missense mutation in CASK causes FG syndrome in an Italian family. (19200522)
2009
5
Clinical experience in the evaluation of 30 patients with a prior diagnosis of FG syndrome. (18805826)
2009
6
FG syndrome, an X-linked multiple congenital anomaly syndrome: the clinical phenotype and an algorithm for diagnostic testing. (19938245)
2009
7
Treatment of FG syndrome after discontinuation of ECT. (19238119)
2009
8
Behavior of 10 patients with FG syndrome (Opitz-Kaveggia syndrome) and the p.R961W mutation in the MED12 gene. (18973276)
2008
9
Genitourinary anomalies of pediatric FG syndrome. (17574621)
2007
10
ECT in a man with FG syndrome. (17435573)
2007
11
Filamin A mutation is one cause of FG syndrome. (17632775)
2007
12
The FG syndrome: report of a large Italian series. (16691600)
2006
13
Midline defects in FG syndrome: does tethered spinal cord contribute to the phenotype? (15812461)
2005
14
An Xq22.3 duplication detected by comparative genomic hybridization microarray (Array-CGH) defines a new locus (FGS5) for FG syndrome. (16283679)
2005
15
Chiari I malformation in patients with FG syndrome. (16370281)
2005
16
Genetics of tethered cord "syndrome": The FG syndrome. (15551262)
2005
17
Transitory hypogammaglobulinemia of infancy in FG syndrome. (16158434)
2005
18
Genetic heterogeneity of FG syndrome: a fourth locus (FGS4) maps to Xp11.4-p11.3 in an Italian family. (12522552)
2003
19
Skewed X chromosome inactivation in carriers is not a constant finding in FG syndrome. (12700610)
2003
20
FG syndrome: linkage analysis in two families supporting a new gene localization at Xp22.3 [FGS3]. (12239712)
2002
21
Exclusion of nine candidate genes for their involvement in X-linked FG syndrome (FGS1) in three families. (11050623)
2000
22
Mapping of X chromosome inversion breakpoints [inv(X)(q11q28)] associated with FG syndrome: a second FG locus [FGS2]? (11078572)
2000
23
A boy with a submicroscopic 22qter deletion, general overgrowth and features suggestive of FG syndrome. (11149619)
2000
24
Behavior phenotype of FG syndrome: cognition, personality, and behavior in eleven affected boys. (11180218)
2000
25
Clinical and behavioral characteristics in FG syndrome. (10405444)
1999
26
Paracentric inversion of the X chromosome [inv(X)(q12q28)] in familial FG syndrome. (10449643)
1999
27
Reluctance to accept FG syndrome diagnosis. (10232759)
1999
28
FG syndrome: report of three new families with linkage to Xq12-q22.1. (9805132)
1998
29
A gene for FG syndrome maps in the Xq12-q21.31 region. (9375929)
1997
30
Fragile X mutation and FG syndrome-like phenotype. (8844090)
1996
31
Early fatal course in three brothers with FG syndrome. (8829007)
1996
32
A case of FG syndrome with gingival hyperplasia and keloids. (8747594)
1995
33
FG syndrome: the trias mental retardation, hypotonia and constipation reviewed. (8775418)
1995
34
A clinical follow-up of British patients with FG syndrome. (8055129)
1994
35
Japanese kindred with FG syndrome. (7802020)
1994
36
X-linked syndrome of mental retardation, short stature, and hypertelorism: a new syndrome or a further example of the FG syndrome? (8030678)
1994
37
Language and development in FG syndrome with callosal agenesis. (7688382)
1993
38
FG syndrome update 1988: note of 5 new patients and bibliography. (3052062)
1988
39
FG syndrome. (3572995)
1987
40
FG syndrome in a Brazilian child with additional previously unreported signs. (3146296)
1986
41
Necropsy findings in a child with FG syndrome. (3746847)
1986
42
The FG syndrome: 7 new cases. (4017279)
1985
43
FG syndrome in a premature male. (6507484)
1984
44
Diagnostic definition of the FG syndrome. (6507483)
1984
45
Two retarded male cousins with odd facies, hypotonia, and severe constipation: possible examples of the X linked FG syndrome. (6682449)
1983
46
FG syndrome. (7199817)
1982
47
Studies of malformation syndromes of humans XXXIIIC: the FG syndrome - further studies on three affected individuals from the FG family. (7201743)
1982
48
The FG syndrome: further characterization, report of a third family, and of a sporadic case. (565138)
1977
49
Letter: The FG syndrome. (957025)
1976
50
Studies of malformation syndromes of man 33: the FG syndrome. An X-linked recessive syndrome of multiple congenital anomalies and mental retardation. (4365204)
1974

Variations for Fg Syndrome

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

64
id Symbol AA change Variation ID SNP ID
1MED12p.Arg961TrpVAR_033112

Clinvar genetic disease variations for Fg Syndrome:

6
id Gene Name Type Significance SNP ID Assembly Location
1MED12NM_005120.2(MED12): c.2881C> T (p.Arg961Trp)single nucleotide variantPathogenicrs80338758GRCh37Chr X, 70347217: 70347217
2MED12NM_005120.2(MED12): c.2873G> A (p.Gly958Glu)single nucleotide variantPathogenicrs397515554GRCh37Chr X, 70347209: 70347209

Expression for genes affiliated with Fg Syndrome

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Expression patterns in normal tissues for genes affiliated with Fg Syndrome

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Pathways for genes affiliated with Fg Syndrome

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Pathways related to Fg Syndrome according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.4MED12, PRKX

Compounds for genes affiliated with Fg Syndrome

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GO Terms for genes affiliated with Fg Syndrome

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Products for genes affiliated with Fg Syndrome

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  • Antibodies
  • Proteins
  • Lysates

Sources for Fg Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet