MCID: OPT054
MIFTS: 45

Opitz-Kaveggia Syndrome

Categories: Genetic diseases, Rare diseases, Mental diseases, Neuronal diseases, Fetal diseases

Aliases & Classifications for Opitz-Kaveggia Syndrome

MalaCards integrated aliases for Opitz-Kaveggia Syndrome:

Name: Opitz-Kaveggia Syndrome 53 12 49 24 55 71 13
Fg Syndrome 53 12 72 49 24 71 36 28 14 69
Keller Syndrome 53 12 49 24
Fgs1 53 49 24 71
Fgs 53 49 24 71
Oks 53 24 71
Mental Retardation, Large Head, Imperforate Anus, Congenital Hypotonia, and Partial Agenesis of Corpus Callosum 53 49
Fg Syndrome Type 1 55 71
Mental Retardation, Large Head, Imperforate Anus, Congenital Hypotonia, and Partial Agenesis of the Corpus Callosum 24
Fg Syndrome 1; Fgs1 53
Fg Syndrome; Fgs 53
Fg Syndrome 1 53

Characteristics:

OMIM:

53
Inheritance:
x-linked recessive


HPO:

31
opitz-kaveggia syndrome:
Inheritance x-linked recessive inheritance


Classifications:



Summaries for Opitz-Kaveggia Syndrome

NIH Rare Diseases : 49 FG syndrome (FGS) is a genetic condition that affects many parts of the body and occurs almost exclusively in males. "FG" represents the surname initials of the first individuals diagnosed with the disorder. People with FG syndrome frequently have intellectual disability ranging from mild to severe, hypotonia, constipation and/or anal anomalies, a distinctive facial appearance, broad thumbs and great toes, a large head compared to body size (relative macrocephaly), and abnormalities of the corpus callosum. Medical problems including heart defects, seizures, undescended testicle, and an inguinal hernia have also been reported in some affected individuals. Researchers have identified five regions of the X chromosome that are linked to FG syndrome in affected families.Mutations in the MED12 gene appears to be the most common cause of this disorder, leading to FG syndrome 1. Other genes involved with FG syndrome include FLNA (FGS2), CASK (FGS4), UPF3B (FGS6), and  BRWD3 (FGS7). FGS is inherited in an X-linked recessive pattern. Individualized early intervention and educational services are important so that each child can reach their fullest potential.  Last updated: 3/16/2016

MalaCards based summary : Opitz-Kaveggia Syndrome, also known as fg syndrome, is related to syndromic x-linked intellectual disability 14 and lujan-fryns syndrome, and has symptoms including constipation, seizures and hypertelorism. An important gene associated with Opitz-Kaveggia Syndrome is MED12 (Mediator Complex Subunit 12), and among its related pathways/superpathways are MAPK signaling pathway and Focal adhesion. The drugs Neuroserpin and Astragalus have been mentioned in the context of this disorder. Affiliated tissues include heart and skin.

Disease Ontology : 12 An X-linked disease characterized by retardation, hyperactivity, hypotonia, broad thumbs, big first toes and a characteristic facial appearance including macrocephaly and has an X-linked recessive inheritance pattern.

Genetics Home Reference : 24 FG syndrome is a genetic condition that affects many parts of the body and occurs almost exclusively in males. "FG" represents the surname initials of the first family diagnosed with the disorder.

OMIM : 53 Opitz-Kaveggia syndrome (OKS) is an X-linked recessive mental retardation syndrome characterized by dysmorphic features, including relative macrocephaly, hypertelorism, downslanted palpebral fissures, prominent forehead with frontal hair upsweep, and broad thumbs and halluces. Most have hypotonia, constipation, and partial agenesis of the corpus callosum. Some patients have sensorineural hearing loss and joint laxity evolving into joint contractures. Affected individuals tend to be hyperactive and talkative (summary by Graham et al., 1999). In their original family, Opitz and Kaveggia (1974) named the disorder 'FG syndrome' according to the Opitz system of using initials of patients' surnames. (305450)

UniProtKB/Swiss-Prot : 71 Opitz-Kaveggia syndrome: X-linked disorder characterized by mental retardation, relative macrocephaly, hypotonia and constipation.

Related Diseases for Opitz-Kaveggia Syndrome

Graphical network of the top 20 diseases related to Opitz-Kaveggia Syndrome:



Diseases related to Opitz-Kaveggia Syndrome

Symptoms & Phenotypes for Opitz-Kaveggia Syndrome

Symptoms via clinical synopsis from OMIM:

53
Abdomen Gastroin testinal:
constipation
pyloric stenosis
anteriorly placed anus
anal stenosis
imperforate anus
more
Head And Neck Head:
macrocephaly
plagiocephaly
large anterior fontanel

Head And Neck Neck:
short neck

Genitourinary Internal Genitalia Male:
inguinal hernia
cryptorchidism

Abdomen External Features:
umbilical hernia

Head And Neck Face:
prominent forehead
long philtrum
micrognathia
frontal hair upsweep

Head And Neck Teeth:
dental crowding

Skin Nails Hair Hair:
fine hair
sparse hair
frontal hair upsweep

Neurologic Behavioral Psychiatric Manifestations:
hyperactivity
attention deficit disorder
friendly, sociable personality

Skeletal Spine:
lumbar hyperlordosis

Voice:
high-pitched voice

Skeletal Skull:
delayed closure of anterior fontanel

Neurologic Central Nervous System:
seizures
agenesis of corpus callosum
hydrocephalus
global developmental delay
neonatal hypotonia
more
Head And Neck Eyes:
hypertelorism
strabismus
downslanting palpebral fissures
epicanthal folds
medial eyebrow flare

Skeletal Hands:
clinodactyly
single transverse palmar crease
camptodactyly
syndactyly
broad thumbs
more
Head And Neck Mouth:
narrow palate
cleft palate
cleft lip
large mouth
prominent lower lip

Growth Height:
short stature

Genitourinary External Genitalia Male:
hypospadias

Respiratory Nasopharynx:
choanal atresia

Skin Nails Hair Skin:
sacral dimple
single transverse palmar crease
persistent fetal fingertip pads
facial wrinkling
perianal skin tags

Head And Neck Nose:
prominent nose

Head And Neck Ears:
small ears
hearing loss, sensorineural

Skeletal Limbs:
joint contractures
joint hyperlaxity (infancy)

Skeletal Feet:
broad halluces


Clinical features from OMIM:

305450

Human phenotypes related to Opitz-Kaveggia Syndrome:

31 (show top 50) (show all 65)
# Description HPO Frequency HPO Source Accession
1 constipation 31 HP:0002019
2 seizures 31 HP:0001250
3 hypertelorism 31 HP:0000316
4 short neck 31 HP:0000470
5 frontal bossing 31 HP:0002007
6 clinodactyly 31 HP:0030084
7 hydrocephalus 31 HP:0000238
8 intellectual disability 31 HP:0001249
9 inguinal hernia 31 HP:0000023
10 narrow palate 31 HP:0000189
11 global developmental delay 31 HP:0001263
12 umbilical hernia 31 HP:0001537
13 sensorineural hearing impairment 31 HP:0000407
14 neonatal hypotonia 31 HP:0001319
15 short stature 31 HP:0004322
16 broad thumb 31 HP:0011304
17 prominent forehead 31 HP:0011220
18 cleft palate 31 HP:0000175
19 long philtrum 31 HP:0000343
20 micrognathia 31 HP:0000347
21 thick lower lip vermilion 31 HP:0000179
22 strabismus 31 HP:0000486
23 epicanthus 31 HP:0000286
24 cryptorchidism 31 HP:0000028
25 attention deficit hyperactivity disorder 31 HP:0007018
26 wide mouth 31 HP:0000154
27 hypospadias 31 HP:0000047
28 dental crowding 31 HP:0000678
29 downslanted palpebral fissures 31 HP:0000494
30 anal atresia 31 HP:0002023
31 choanal atresia 31 HP:0000453
32 intestinal malrotation 31 HP:0002566
33 fine hair 31 HP:0002213
34 split hand 31 HP:0001171
35 sacral dimple 31 HP:0000960
36 wide anterior fontanel 31 HP:0000260
37 pyloric stenosis 31 HP:0002021
38 high pitched voice 31 HP:0001620
39 anteriorly placed anus 31 HP:0001545
40 cleft upper lip 31 HP:0000204
41 partial agenesis of the corpus callosum 31 HP:0001338
42 plagiocephaly 31 HP:0001357
43 sparse hair 31 HP:0008070
44 abnormality of the sternum 31 HP:0000766
45 motor delay 31 HP:0001270
46 prominent nose 31 HP:0000448
47 single transverse palmar crease 31 HP:0000954
48 anal stenosis 31 HP:0002025
49 heterotopia 31 HP:0002282
50 skin tags 31 HP:0010609

UMLS symptoms related to Opitz-Kaveggia Syndrome:


seizures, constipation

Drugs & Therapeutics for Opitz-Kaveggia Syndrome

Drugs for Opitz-Kaveggia Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Neuroserpin
2 Astragalus Nutraceutical

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Genetic Disease Gene Identification Unknown status NCT00916903

Search NIH Clinical Center for Opitz-Kaveggia Syndrome

Genetic Tests for Opitz-Kaveggia Syndrome

Genetic tests related to Opitz-Kaveggia Syndrome:

# Genetic test Affiliating Genes
1 Fg Syndrome 28 MED12

Anatomical Context for Opitz-Kaveggia Syndrome

MalaCards organs/tissues related to Opitz-Kaveggia Syndrome:

38
Heart, Skin

Publications for Opitz-Kaveggia Syndrome

Articles related to Opitz-Kaveggia Syndrome:

(show top 50) (show all 54)
# Title Authors Year
1
FG syndrome: the FGS2 locus revisited. ( 22528511 )
2012
2
A novel mutation in MED12 causes FG syndrome (Opitz-Kaveggia syndrome). ( 20507344 )
2011
3
The FG syndrome from a pathological perspective. ( 21391746 )
2011
4
Behavioral features in young adults with FG syndrome (Opitz-Kaveggia syndrome). ( 20981778 )
2010
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
A missense mutation in CASK causes FG syndrome in an Italian family. ( 19200522 )
2009
8
Treatment of FG syndrome after discontinuation of ECT. ( 19238119 )
2009
9
Behavior of 10 patients with FG syndrome (Opitz-Kaveggia syndrome) and the p.R961W mutation in the MED12 gene. ( 18973276 )
2008
10
A recurrent mutation in MED12 leading to R961W causes Opitz-Kaveggia syndrome. ( 17334363 )
2007
11
Filamin A mutation is one cause of FG syndrome. ( 17632775 )
2007
12
Genitourinary anomalies of pediatric FG syndrome. ( 17574621 )
2007
13
ECT in a man with FG syndrome. ( 17435573 )
2007
14
The FG syndrome: report of a large Italian series. ( 16691600 )
2006
15
An Xq22.3 duplication detected by comparative genomic hybridization microarray (Array-CGH) defines a new locus (FGS5) for FG syndrome. ( 16283679 )
2005
16
Transitory hypogammaglobulinemia of infancy in FG syndrome. ( 16158434 )
2005
17
Midline defects in FG syndrome: does tethered spinal cord contribute to the phenotype? ( 15812461 )
2005
18
Genetics of tethered cord "syndrome": The FG syndrome. ( 15551262 )
2005
19
Chiari I malformation in patients with FG syndrome. ( 16370281 )
2005
20
Skewed X chromosome inactivation in carriers is not a constant finding in FG syndrome. ( 12700610 )
2003
21
Genetic heterogeneity of FG syndrome: a fourth locus (FGS4) maps to Xp11.4-p11.3 in an Italian family. ( 12522552 )
2003
22
FG syndrome: linkage analysis in two families supporting a new gene localization at Xp22.3 [FGS3]. ( 12239712 )
2002
23
Behavior phenotype of FG syndrome: cognition, personality, and behavior in eleven affected boys. ( 11180218 )
2000
24
Mapping of X chromosome inversion breakpoints [inv(X)(q11q28)] associated with FG syndrome: a second FG locus [FGS2]? ( 11078572 )
2000
25
A boy with a submicroscopic 22qter deletion, general overgrowth and features suggestive of FG syndrome. ( 11149619 )
2000
26
Exclusion of nine candidate genes for their involvement in X-linked FG syndrome (FGS1) in three families. ( 11050623 )
2000
27
Reluctance to accept FG syndrome diagnosis. ( 10232759 )
1999
28
Paracentric inversion of the X chromosome [inv(X)(q12q28)] in familial FG syndrome. ( 10449643 )
1999
29
Clinical and behavioral characteristics in FG syndrome. ( 10405444 )
1999
30
Syndromal foramina parietalia permagna: "new" or FG syndrome? Comments on the paper by Chrzanowska et al [1998]. ( 9714004 )
1998
31
FG syndrome: report of three new families with linkage to Xq12-q22.1. ( 9805132 )
1998
32
A gene for FG syndrome maps in the Xq12-q21.31 region. ( 9375929 )
1997
33
Fragile X mutation and FG syndrome-like phenotype. ( 8844090 )
1996
34
Early fatal course in three brothers with FG syndrome. ( 8829007 )
1996
35
FG syndrome: the trias mental retardation, hypotonia and constipation reviewed. ( 8775418 )
1995
36
A case of FG syndrome with gingival hyperplasia and keloids. ( 8747594 )
1995
37
Japanese kindred with FG syndrome. ( 7802020 )
1994
38
A clinical follow-up of British patients with FG syndrome. ( 8055129 )
1994
39
X-linked syndrome of mental retardation, short stature, and hypertelorism: a new syndrome or a further example of the FG syndrome? ( 8030678 )
1994
40
Language and development in FG syndrome with callosal agenesis. ( 7688382 )
1993
41
FG syndrome update 1988: note of 5 new patients and bibliography. ( 3052062 )
1988
42
FG syndrome. ( 3572995 )
1987
43
Necropsy findings in a child with FG syndrome. ( 3746847 )
1986
44
FG syndrome in a Brazilian child with additional previously unreported signs. ( 3146296 )
1986
45
The FG syndrome: 7 new cases. ( 4017279 )
1985
46
FG syndrome in a premature male. ( 6507484 )
1984
47
Sensorineural deafness in the FG syndrome: report on four new cases. ( 6542310 )
1984
48
Diagnostic definition of the FG syndrome. ( 6507483 )
1984
49
Two retarded male cousins with odd facies, hypotonia, and severe constipation: possible examples of the X linked FG syndrome. ( 6682449 )
1983
50
FG syndrome. ( 7199817 )
1982

Variations for Opitz-Kaveggia Syndrome

UniProtKB/Swiss-Prot genetic disease variations for Opitz-Kaveggia Syndrome:

71
# Symbol AA change Variation ID SNP ID
1 MED12 p.Arg961Trp VAR_033112 rs80338758

ClinVar genetic disease variations for Opitz-Kaveggia Syndrome:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 MED12 NM_005120.2(MED12): c.2881C> T (p.Arg961Trp) single nucleotide variant Pathogenic rs80338758 GRCh37 Chromosome X, 70347217: 70347217
2 MED12 NM_005120.2(MED12): c.2873G> A (p.Gly958Glu) single nucleotide variant Pathogenic rs397515554 GRCh38 Chromosome X, 71127359: 71127359
3 MED12 NM_005120.2(MED12): c.4147G> A (p.Ala1383Thr) single nucleotide variant Pathogenic rs863223696 GRCh37 Chromosome X, 70351950: 70351950
4 MED12 NM_005120.2(MED12): c.1862G> A (p.Arg621Gln) single nucleotide variant Likely pathogenic rs1057519381 GRCh38 Chromosome X, 71124276: 71124276
5 MED12 NM_005120.2(MED12): c.2444G> A (p.Arg815Gln) single nucleotide variant Pathogenic rs762905361 GRCh38 Chromosome X, 71126057: 71126057
6 MED12 NM_005120.2(MED12): c.3067A> G (p.Ile1023Val) single nucleotide variant Pathogenic rs879255526 GRCh37 Chromosome X, 70347828: 70347828
7 MED12 NM_005120.2(MED12): c.5898dupC (p.Ser1967GlnfsTer84) duplication Pathogenic rs879255527 GRCh37 Chromosome X, 70357647: 70357647

Copy number variations for Opitz-Kaveggia Syndrome from CNVD:

7
# CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 264548 X 67700000 76000000 Copy number Opitz-Kaveggia syndrome

Expression for Opitz-Kaveggia Syndrome

Search GEO for disease gene expression data for Opitz-Kaveggia Syndrome.

Pathways for Opitz-Kaveggia Syndrome

Pathways related to Opitz-Kaveggia Syndrome according to KEGG:

36
# Name Kegg Source Accession
1 MAPK signaling pathway hsa04010
2 Focal adhesion hsa04510
3 Tight junction hsa04530

GO Terms for Opitz-Kaveggia Syndrome

Cellular components related to Opitz-Kaveggia Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mediator complex GO:0016592 8.62 MED12 MED13L

Molecular functions related to Opitz-Kaveggia Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 RNA polymerase II transcription cofactor activity GO:0001104 8.62 MED12 MED13L

Sources for Opitz-Kaveggia Syndrome

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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