MCID: OPT054
MIFTS: 45

Opitz-Kaveggia Syndrome

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

Aliases & Classifications for Opitz-Kaveggia Syndrome

MalaCards integrated aliases for Opitz-Kaveggia Syndrome:

Name: Opitz-Kaveggia Syndrome 57 12 53 25 59 75 13 40
Fg Syndrome 57 12 76 53 25 75 37 29 6 15 73
Keller Syndrome 57 12 53 25
Fgs1 57 53 25 75
Fgs 57 53 25 75
Oks 57 25 75
Mental Retardation, Large Head, Imperforate Anus, Congenital Hypotonia, and Partial Agenesis of Corpus Callosum 57 53
Fg Syndrome Type 1 59 75
Mental Retardation, Large Head, Imperforate Anus, Congenital Hypotonia, and Partial Agenesis of the Corpus Callosum 25
Fg Syndrome 1; Fgs1 57
Fg Syndrome; Fgs 57
Fg Syndrome 1 57

Characteristics:

OMIM:

57
Inheritance:
x-linked recessive


HPO:

32
opitz-kaveggia syndrome:
Inheritance x-linked recessive inheritance


Classifications:



Summaries for Opitz-Kaveggia Syndrome

NIH Rare Diseases : 53 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. 

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 and seizures. 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, skin and testes, and related phenotypes are hypertelorism and short neck

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 : 25 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 : 57 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 : 75 Opitz-Kaveggia syndrome: X-linked disorder characterized by mental retardation, relative macrocephaly, hypotonia and constipation.

Wikipedia : 76 FG syndrome (FGS; also known as Opitz–Kaveggia syndrome) is a rare genetic syndrome caused by one or... more...

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:

57
Head And Neck Head:
macrocephaly
plagiocephaly
large anterior fontanel

Head And Neck Neck:
short neck

Skeletal Hands:
clinodactyly
single transverse palmar crease
camptodactyly
syndactyly
broad thumbs
more
GenitourinaryInternal GenitaliaMale:
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

Head And Neck Eyes:
hypertelorism
strabismus
downslanting palpebral fissures
epicanthal folds
medial eyebrow flare

Neurologic Central Nervous System:
agenesis of corpus callosum
hydrocephalus
seizures
global developmental delay
neonatal hypotonia
more
Abdomen Gastrointestinal:
constipation
pyloric stenosis
anteriorly placed anus
anal stenosis
imperforate anus
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:

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

UMLS symptoms related to Opitz-Kaveggia Syndrome:


constipation, seizures

GenomeRNAi Phenotypes related to Opitz-Kaveggia Syndrome according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance with PLX4720 GR00300-A 8.62 MED12 VCX3A

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 29 MED12

Anatomical Context for Opitz-Kaveggia Syndrome

MalaCards organs/tissues related to Opitz-Kaveggia Syndrome:

41
Heart, Skin, Testes, Spinal Cord

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
FG syndrome, an X-linked multiple congenital anomaly syndrome: the clinical phenotype and an algorithm for diagnostic testing. ( 19938245 )
2009
6
A missense mutation in CASK causes FG syndrome in an Italian family. ( 19200522 )
2009
7
Treatment of FG syndrome after discontinuation of ECT. ( 19238119 )
2009
8
Clinical experience in the evaluation of 30 patients with a prior diagnosis of FG syndrome. ( 18805826 )
2009
9
Behavior of 10 patients with FG syndrome (Opitz-Kaveggia syndrome) and the p.R961W mutation in the MED12 gene. ( 18973276 )
2008
10
ECT in a man with FG syndrome. ( 17435573 )
2007
11
A recurrent mutation in MED12 leading to R961W causes Opitz-Kaveggia syndrome. ( 17334363 )
2007
12
Filamin A mutation is one cause of FG syndrome. ( 17632775 )
2007
13
Genitourinary anomalies of pediatric FG syndrome. ( 17574621 )
2007
14
The FG syndrome: report of a large Italian series. ( 16691600 )
2006
15
Transitory hypogammaglobulinemia of infancy in FG syndrome. ( 16158434 )
2005
16
Midline defects in FG syndrome: does tethered spinal cord contribute to the phenotype? ( 15812461 )
2005
17
Chiari I malformation in patients with FG syndrome. ( 16370281 )
2005
18
An Xq22.3 duplication detected by comparative genomic hybridization microarray (Array-CGH) defines a new locus (FGS5) for FG syndrome. ( 16283679 )
2005
19
Genetics of tethered cord "syndrome": The FG syndrome. ( 15551262 )
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
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
Mapping of X chromosome inversion breakpoints [inv(X)(q11q28)] associated with FG syndrome: a second FG locus [FGS2]? ( 11078572 )
2000
26
Exclusion of nine candidate genes for their involvement in X-linked FG syndrome (FGS1) in three families. ( 11050623 )
2000
27
Clinical and behavioral characteristics in FG syndrome. ( 10405444 )
1999
28
Paracentric inversion of the X chromosome [inv(X)(q12q28)] in familial FG syndrome. ( 10449643 )
1999
29
Reluctance to accept FG syndrome diagnosis. ( 10232759 )
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
Early fatal course in three brothers with FG syndrome. ( 8829007 )
1996
34
Fragile X mutation and FG syndrome-like phenotype. ( 8844090 )
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
A clinical follow-up of British patients with FG syndrome. ( 8055129 )
1994
38
X-linked syndrome of mental retardation, short stature, and hypertelorism: a new syndrome or a further example of the FG syndrome? ( 8030678 )
1994
39
Japanese kindred with FG syndrome. ( 7802020 )
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
Sensorineural deafness in the FG syndrome: report on four new cases. ( 6542310 )
1984
47
FG syndrome in a premature male. ( 6507484 )
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
Studies of malformation syndromes of humans XXXIIIC: the FG syndrome - further studies on three affected individuals from the FG family. ( 7201743 )
1982

Variations for Opitz-Kaveggia Syndrome

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

75
# Symbol AA change Variation ID SNP ID
1 MED12 p.Arg961Trp VAR_033112 rs80338758

ClinVar genetic disease variations for Opitz-Kaveggia Syndrome:

6
(show top 50) (show all 188)
# 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.2881C> T (p.Arg961Trp) single nucleotide variant Pathogenic rs80338758 GRCh38 Chromosome X, 71127367: 71127367
3 MED12 NM_005120.2(MED12): c.2873G> A (p.Gly958Glu) single nucleotide variant Pathogenic rs397515554 GRCh37 Chromosome X, 70347209: 70347209
4 MED12 NM_005120.2(MED12): c.2873G> A (p.Gly958Glu) single nucleotide variant Pathogenic rs397515554 GRCh38 Chromosome X, 71127359: 71127359
5 MED12 NM_005120.2(MED12): c.6226_6228dupCAG (p.Gln2076_Tyr2077insGln) duplication Benign/Likely benign rs786200970 GRCh37 Chromosome X, 70360666: 70360668
6 MED12 NM_005120.2(MED12): c.6226_6228dupCAG (p.Gln2076_Tyr2077insGln) duplication Benign/Likely benign rs786200970 GRCh38 Chromosome X, 71140816: 71140818
7 MED12 NM_005120.2(MED12): c.6256_6258dupCAG (p.Gln2086_Ile2087insGln) duplication Conflicting interpretations of pathogenicity rs786200971 GRCh37 Chromosome X, 70360696: 70360698
8 MED12 NM_005120.2(MED12): c.6256_6258dupCAG (p.Gln2086_Ile2087insGln) duplication Conflicting interpretations of pathogenicity rs786200971 GRCh38 Chromosome X, 71140846: 71140848
9 MED12 NM_005120.2(MED12): c.6321_6335delGCAGCAGCAACAGCA (p.Gln2111_Gln2115del) deletion Conflicting interpretations of pathogenicity rs727503869 GRCh37 Chromosome X, 70361133: 70361147
10 MED12 NM_005120.2(MED12): c.6321_6335delGCAGCAGCAACAGCA (p.Gln2111_Gln2115del) deletion Conflicting interpretations of pathogenicity rs727503869 GRCh38 Chromosome X, 71141283: 71141297
11 MED12 NM_005120.2(MED12): c.438A> G (p.Leu146=) single nucleotide variant Benign/Likely benign rs35068602 GRCh37 Chromosome X, 70339905: 70339905
12 MED12 NM_005120.2(MED12): c.438A> G (p.Leu146=) single nucleotide variant Benign/Likely benign rs35068602 GRCh38 Chromosome X, 71120055: 71120055
13 MED12 NM_005120.2(MED12): c.2886C> T (p.Ser962=) single nucleotide variant Benign rs34761462 GRCh37 Chromosome X, 70347222: 70347222
14 MED12 NM_005120.2(MED12): c.2886C> T (p.Ser962=) single nucleotide variant Benign rs34761462 GRCh38 Chromosome X, 71127372: 71127372
15 MED12 NM_005120.2(MED12): c.3204C> T (p.Pro1068=) single nucleotide variant Benign/Likely benign rs201807437 GRCh37 Chromosome X, 70347965: 70347965
16 MED12 NM_005120.2(MED12): c.3204C> T (p.Pro1068=) single nucleotide variant Benign/Likely benign rs201807437 GRCh38 Chromosome X, 71128115: 71128115
17 MED12 NM_005120.2(MED12): c.381G> A (p.Thr127=) single nucleotide variant Conflicting interpretations of pathogenicity rs202125318 GRCh37 Chromosome X, 70339712: 70339712
18 MED12 NM_005120.2(MED12): c.381G> A (p.Thr127=) single nucleotide variant Conflicting interpretations of pathogenicity rs202125318 GRCh38 Chromosome X, 71119862: 71119862
19 MED12 NM_005120.2(MED12): c.4669T> C (p.Trp1557Arg) single nucleotide variant Likely pathogenic rs794727576 GRCh37 Chromosome X, 70354258: 70354258
20 MED12 NM_005120.2(MED12): c.4669T> C (p.Trp1557Arg) single nucleotide variant Likely pathogenic rs794727576 GRCh38 Chromosome X, 71134408: 71134408
21 MED12 NM_005120.2(MED12): c.5400+6C> T single nucleotide variant Conflicting interpretations of pathogenicity rs192656109 GRCh37 Chromosome X, 70356511: 70356511
22 MED12 NM_005120.2(MED12): c.5400+6C> T single nucleotide variant Conflicting interpretations of pathogenicity rs192656109 GRCh38 Chromosome X, 71136661: 71136661
23 MED12 NM_005120.2(MED12): c.653C> T (p.Thr218Met) single nucleotide variant Conflicting interpretations of pathogenicity rs369083173 GRCh37 Chromosome X, 70340920: 70340920
24 MED12 NM_005120.2(MED12): c.653C> T (p.Thr218Met) single nucleotide variant Conflicting interpretations of pathogenicity rs369083173 GRCh38 Chromosome X, 71121070: 71121070
25 MED12 NM_005120.2(MED12): c.1695T> A (p.Ile565=) single nucleotide variant Conflicting interpretations of pathogenicity rs138984044 GRCh38 Chromosome X, 71123671: 71123671
26 MED12 NM_005120.2(MED12): c.1695T> A (p.Ile565=) single nucleotide variant Conflicting interpretations of pathogenicity rs138984044 GRCh37 Chromosome X, 70343521: 70343521
27 MED12 NM_005120.2(MED12): c.4179A> C (p.Ser1393=) single nucleotide variant Benign/Likely benign rs376058351 GRCh38 Chromosome X, 71132132: 71132132
28 MED12 NM_005120.2(MED12): c.4179A> C (p.Ser1393=) single nucleotide variant Benign/Likely benign rs376058351 GRCh37 Chromosome X, 70351982: 70351982
29 MED12 NM_005120.2(MED12): c.204+12_204+13delCT deletion Benign rs200301833 GRCh38 Chromosome X, 71119489: 71119490
30 MED12 NM_005120.2(MED12): c.204+12_204+13delCT deletion Benign rs200301833 GRCh37 Chromosome X, 70339339: 70339340
31 MED12 NM_005120.2(MED12): c.1386G> T (p.Val462=) single nucleotide variant Benign rs186153976 GRCh37 Chromosome X, 70342625: 70342625
32 MED12 NM_005120.2(MED12): c.1386G> T (p.Val462=) single nucleotide variant Benign rs186153976 GRCh38 Chromosome X, 71122775: 71122775
33 MED12 NM_005120.2(MED12): c.1849A> G (p.Thr617Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs765417606 GRCh37 Chromosome X, 70344113: 70344113
34 MED12 NM_005120.2(MED12): c.1849A> G (p.Thr617Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs765417606 GRCh38 Chromosome X, 71124263: 71124263
35 MED12 NM_005120.2(MED12): c.4021C> T (p.Arg1341Trp) single nucleotide variant Uncertain significance rs777250096 GRCh37 Chromosome X, 70350038: 70350038
36 MED12 NM_005120.2(MED12): c.4021C> T (p.Arg1341Trp) single nucleotide variant Uncertain significance rs777250096 GRCh38 Chromosome X, 71130188: 71130188
37 MED12 NM_005120.2(MED12): c.4147G> A (p.Ala1383Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs863223696 GRCh37 Chromosome X, 70351950: 70351950
38 MED12 NM_005120.2(MED12): c.4147G> A (p.Ala1383Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs863223696 GRCh38 Chromosome X, 71132100: 71132100
39 MED12 NM_005120.2(MED12): c.6256_6258delCAG (p.Gln2086del) deletion Conflicting interpretations of pathogenicity rs863223713 GRCh38 Chromosome X, 71140846: 71140848
40 MED12 NM_005120.2(MED12): c.6256_6258delCAG (p.Gln2086del) deletion Conflicting interpretations of pathogenicity rs863223713 GRCh37 Chromosome X, 70360696: 70360698
41 MED12 NM_005120.2(MED12): c.4028G> A (p.Arg1343His) single nucleotide variant Uncertain significance rs201044355 GRCh38 Chromosome X, 71130195: 71130195
42 MED12 NM_005120.2(MED12): c.4028G> A (p.Arg1343His) single nucleotide variant Uncertain significance rs201044355 GRCh37 Chromosome X, 70350045: 70350045
43 MED12 NM_005120.2(MED12): c.1862G> A (p.Arg621Gln) single nucleotide variant Likely pathogenic rs1057519381 GRCh38 Chromosome X, 71124276: 71124276
44 MED12 NM_005120.2(MED12): c.1862G> A (p.Arg621Gln) single nucleotide variant Likely pathogenic rs1057519381 GRCh37 Chromosome X, 70344126: 70344126
45 MED12 NM_005120.2(MED12): c.380C> T (p.Thr127Met) single nucleotide variant Benign rs775072642 GRCh37 Chromosome X, 70339711: 70339711
46 MED12 NM_005120.2(MED12): c.380C> T (p.Thr127Met) single nucleotide variant Benign rs775072642 GRCh38 Chromosome X, 71119861: 71119861
47 MED12 NM_005120.2(MED12): c.2068A> G (p.Thr690Ala) single nucleotide variant Uncertain significance rs878854752 GRCh37 Chromosome X, 70344838: 70344838
48 MED12 NM_005120.2(MED12): c.2068A> G (p.Thr690Ala) single nucleotide variant Uncertain significance rs878854752 GRCh38 Chromosome X, 71124988: 71124988
49 MED12 NM_005120.2(MED12): c.2220C> T (p.Ile740=) single nucleotide variant Likely benign rs370195616 GRCh38 Chromosome X, 71125140: 71125140
50 MED12 NM_005120.2(MED12): c.2220C> T (p.Ile740=) single nucleotide variant Likely benign rs370195616 GRCh37 Chromosome X, 70344990: 70344990

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:

37
# 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

Sources for Opitz-Kaveggia Syndrome

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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