OKS
MCID: OPT054
MIFTS: 48

Opitz-Kaveggia Syndrome (OKS)

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

Aliases & Classifications for Opitz-Kaveggia Syndrome

MalaCards integrated aliases for Opitz-Kaveggia Syndrome:

Name: Opitz-Kaveggia Syndrome 58 12 54 26 60 76 13 45 41
Fg Syndrome 58 12 77 54 26 76 38 30 6 15 17 74
Keller Syndrome 58 12 54 26
Fgs1 58 54 26 76
Fgs 58 54 26 76
Oks 58 26 76
Mental Retardation, Large Head, Imperforate Anus, Congenital Hypotonia, and Partial Agenesis of Corpus Callosum 58 54
Fg Syndrome Type 1 60 76
Mental Retardation, Large Head, Imperforate Anus, Congenital Hypotonia, and Partial Agenesis of the Corpus Callosum 26
Fg Syndrome 1; Fgs1 58
Fg Syndrome; Fgs 58
Fg Syndrome 1 58

Characteristics:

OMIM:

58
Inheritance:
x-linked recessive


HPO:

33
opitz-kaveggia syndrome:
Inheritance x-linked recessive inheritance


Classifications:



Summaries for Opitz-Kaveggia Syndrome

NIH Rare Diseases : 54 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 fg syndrome 3 and fg syndrome 5, and has symptoms including seizures and constipation. 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 recessive 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 : 26 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 : 58 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 : 76 Opitz-Kaveggia syndrome: X-linked disorder characterized by mental retardation, relative macrocephaly, hypotonia and constipation.

Wikipedia : 77 FG syndrome (FGS) is a rare genetic syndrome caused by one or more recessive genes located on the X... more...

Related Diseases for Opitz-Kaveggia Syndrome

Diseases related to Opitz-Kaveggia Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 84)
# Related Disease Score Top Affiliating Genes
1 fg syndrome 3 12.2
2 fg syndrome 5 12.2
3 lujan-fryns syndrome 11.4
4 fg syndrome 4 11.3
5 x-linked intellectual disability with or without nystagmus 11.2
6 ulnar neuropathy 11.1
7 fg syndrome 2 11.1
8 cask-related disorders 11.1
9 vaccinia 11.1
10 focal segmental glomerulosclerosis 11.1
11 syndromic x-linked intellectual disability 14 11.1
12 congenital cystic eye 10.2
13 alzheimer disease 10.2
14 filariasis 10.2
15 pancreatic cancer 10.2
16 nephrotic syndrome 10.1
17 constipation 10.1
18 hypotonia 10.1
19 obstructive nephropathy 10.1
20 malaria 10.0
21 neuromyelitis optica 10.0
22 osteoarthritis 10.0
23 lymphopenia 10.0
24 learning disability 10.0
25 irritable bowel syndrome 10.0
26 neuromyelitis optica spectrum disorder 10.0
27 splenomegaly 10.0
28 melanoma, uveal 9.9
29 prostate cancer 9.9
30 prostate cancer, hereditary, 8 9.9
31 human immunodeficiency virus type 1 9.9
32 prostate cancer, hereditary, 6 9.9
33 gastric cancer 9.9
34 dengue virus 9.9
35 brain injury 9.9
36 traumatic brain injury 9.9
37 amnestic disorder 9.9
38 melanoma 9.9
39 tracheal stenosis 9.9
40 congenital nystagmus 9.9
41 hypertelorism 9.9
42 parietal foramina 1 9.9
43 parietal foramina 2 9.9
44 keloids 9.9
45 ohdo syndrome 9.9 MED12 MED13L
46 popliteal pterygium syndrome 9.8
47 ichthyosis bullosa of siemens 9.8
48 milia, multiple eruptive 9.8
49 neurofibromatosis, type i 9.8
50 neurofibromatosis, type iv, of riccardi 9.8

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



Diseases related to Opitz-Kaveggia Syndrome

Symptoms & Phenotypes for Opitz-Kaveggia Syndrome

Human phenotypes related to Opitz-Kaveggia Syndrome:

33 (show top 50) (show all 65)
# Description HPO Frequency HPO Source Accession
1 hypertelorism 33 HP:0000316
2 short neck 33 HP:0000470
3 frontal bossing 33 HP:0002007
4 clinodactyly 33 HP:0030084
5 hydrocephalus 33 HP:0000238
6 intellectual disability 33 HP:0001249
7 seizures 33 HP:0001250
8 constipation 33 HP:0002019
9 inguinal hernia 33 HP:0000023
10 narrow palate 33 HP:0000189
11 global developmental delay 33 HP:0001263
12 umbilical hernia 33 HP:0001537
13 sensorineural hearing impairment 33 HP:0000407
14 neonatal hypotonia 33 HP:0001319
15 short stature 33 HP:0004322
16 broad thumb 33 HP:0011304
17 prominent forehead 33 HP:0011220
18 cleft palate 33 HP:0000175
19 long philtrum 33 HP:0000343
20 micrognathia 33 HP:0000347
21 thick lower lip vermilion 33 HP:0000179
22 strabismus 33 HP:0000486
23 epicanthus 33 HP:0000286
24 cryptorchidism 33 HP:0000028
25 attention deficit hyperactivity disorder 33 HP:0007018
26 motor delay 33 HP:0001270
27 multiple joint contractures 33 HP:0002828
28 wide mouth 33 HP:0000154
29 hypospadias 33 HP:0000047
30 dental crowding 33 HP:0000678
31 downslanted palpebral fissures 33 HP:0000494
32 anal atresia 33 HP:0002023
33 choanal atresia 33 HP:0000453
34 intestinal malrotation 33 HP:0002566
35 fine hair 33 HP:0002213
36 split hand 33 HP:0001171
37 sacral dimple 33 HP:0000960
38 wide anterior fontanel 33 HP:0000260
39 pyloric stenosis 33 HP:0002021
40 high pitched voice 33 HP:0001620
41 anteriorly placed anus 33 HP:0001545
42 cleft upper lip 33 HP:0000204
43 partial agenesis of the corpus callosum 33 HP:0001338
44 plagiocephaly 33 HP:0001357
45 sparse hair 33 HP:0008070
46 abnormality of the sternum 33 HP:0000766
47 prominent nose 33 HP:0000448
48 single transverse palmar crease 33 HP:0000954
49 anal stenosis 33 HP:0002025
50 heterotopia 33 HP:0002282

Symptoms via clinical synopsis from OMIM:

58
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
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

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

UMLS symptoms related to Opitz-Kaveggia Syndrome:


seizures, constipation

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

27
# 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

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

Cochrane evidence based reviews: opitz-kaveggia syndrome

Genetic Tests for Opitz-Kaveggia Syndrome

Genetic tests related to Opitz-Kaveggia Syndrome:

# Genetic test Affiliating Genes
1 Fg Syndrome 30 MED12

Anatomical Context for Opitz-Kaveggia Syndrome

MalaCards organs/tissues related to Opitz-Kaveggia Syndrome:

42
Heart, Skin, Testes, Spinal Cord

Publications for Opitz-Kaveggia Syndrome

Articles related to Opitz-Kaveggia Syndrome:

(show top 50) (show all 55)
# Title Authors Year
1
A de novo splice site mutation in CASK causes FG syndrome-4 and congenital nystagmus. ( 28139025 )
2017
2
FG syndrome: the FGS2 locus revisited. ( 22528511 )
2012
3
A novel mutation in MED12 causes FG syndrome (Opitz-Kaveggia syndrome). ( 20507344 )
2011
4
The FG syndrome from a pathological perspective. ( 21391746 )
2011
5
Behavioral features in young adults with FG syndrome (Opitz-Kaveggia syndrome). ( 20981778 )
2010
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
Clinical experience in the evaluation of 30 patients with a prior diagnosis of FG syndrome. ( 18805826 )
2009
10
Behavior of 10 patients with FG syndrome (Opitz-Kaveggia syndrome) and the p.R961W mutation in the MED12 gene. ( 18973276 )
2008
11
ECT in a man with FG syndrome. ( 17435573 )
2007
12
A recurrent mutation in MED12 leading to R961W causes Opitz-Kaveggia syndrome. ( 17334363 )
2007
13
Filamin A mutation is one cause of FG syndrome. ( 17632775 )
2007
14
Genitourinary anomalies of pediatric FG syndrome. ( 17574621 )
2007
15
The FG syndrome: report of a large Italian series. ( 16691600 )
2006
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
Chiari I malformation in patients with FG syndrome. ( 16370281 )
2005
19
An Xq22.3 duplication detected by comparative genomic hybridization microarray (Array-CGH) defines a new locus (FGS5) for FG syndrome. ( 16283679 )
2005
20
Genetics of tethered cord "syndrome": The FG syndrome. ( 15551262 )
2005
21
Skewed X chromosome inactivation in carriers is not a constant finding in FG syndrome. ( 12700610 )
2003
22
Genetic heterogeneity of FG syndrome: a fourth locus (FGS4) maps to Xp11.4-p11.3 in an Italian family. ( 12522552 )
2003
23
FG syndrome: linkage analysis in two families supporting a new gene localization at Xp22.3 [FGS3]. ( 12239712 )
2002
24
A boy with a submicroscopic 22qter deletion, general overgrowth and features suggestive of FG syndrome. ( 11149619 )
2000
25
Behavior phenotype of FG syndrome: cognition, personality, and behavior in eleven affected boys. ( 11180218 )
2000
26
Mapping of X chromosome inversion breakpoints [inv(X)(q11q28)] associated with FG syndrome: a second FG locus [FGS2]? ( 11078572 )
2000
27
Exclusion of nine candidate genes for their involvement in X-linked FG syndrome (FGS1) in three families. ( 11050623 )
2000
28
Clinical and behavioral characteristics in FG syndrome. ( 10405444 )
1999
29
Paracentric inversion of the X chromosome [inv(X)(q12q28)] in familial FG syndrome. ( 10449643 )
1999
30
Reluctance to accept FG syndrome diagnosis. ( 10232759 )
1999
31
Syndromal foramina parietalia permagna: "new" or FG syndrome? Comments on the paper by Chrzanowska et al [1998]. ( 9714004 )
1998
32
FG syndrome: report of three new families with linkage to Xq12-q22.1. ( 9805132 )
1998
33
A gene for FG syndrome maps in the Xq12-q21.31 region. ( 9375929 )
1997
34
Early fatal course in three brothers with FG syndrome. ( 8829007 )
1996
35
Fragile X mutation and FG syndrome-like phenotype. ( 8844090 )
1996
36
FG syndrome: the trias mental retardation, hypotonia and constipation reviewed. ( 8775418 )
1995
37
A case of FG syndrome with gingival hyperplasia and keloids. ( 8747594 )
1995
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
Japanese kindred with FG syndrome. ( 7802020 )
1994
41
Language and development in FG syndrome with callosal agenesis. ( 7688382 )
1993
42
FG syndrome update 1988: note of 5 new patients and bibliography. ( 3052062 )
1988
43
FG syndrome. ( 3572995 )
1987
44
Necropsy findings in a child with FG syndrome. ( 3746847 )
1986
45
FG syndrome in a Brazilian child with additional previously unreported signs. ( 3146296 )
1986
46
The FG syndrome: 7 new cases. ( 4017279 )
1985
47
Sensorineural deafness in the FG syndrome: report on four new cases. ( 6542310 )
1984
48
FG syndrome in a premature male. ( 6507484 )
1984
49
Diagnostic definition of the FG syndrome. ( 6507483 )
1984
50
Two retarded male cousins with odd facies, hypotonia, and severe constipation: possible examples of the X linked FG syndrome. ( 6682449 )
1983

Variations for Opitz-Kaveggia Syndrome

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

76
# 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 231)
# Gene Variation Type Significance SNP ID Assembly Location
1 MED12 NM_005120.2(MED12): c.6226_6228dupCAG (p.Gln2076_Tyr2077insGln) duplication Benign/Likely benign rs757160341 GRCh37 Chromosome X, 70360666: 70360668
2 MED12 NM_005120.2(MED12): c.6226_6228dupCAG (p.Gln2076_Tyr2077insGln) duplication Benign/Likely benign rs757160341 GRCh38 Chromosome X, 71140816: 71140818
3 MED12 NM_005120.2(MED12): c.6256_6258dupCAG (p.Gln2086_Ile2087insGln) duplication Conflicting interpretations of pathogenicity rs786200971 GRCh37 Chromosome X, 70360696: 70360698
4 MED12 NM_005120.2(MED12): c.6256_6258dupCAG (p.Gln2086_Ile2087insGln) duplication Conflicting interpretations of pathogenicity rs786200971 GRCh38 Chromosome X, 71140846: 71140848
5 MED12 NM_005120.2(MED12): c.6321_6335delGCAGCAGCAACAGCA (p.Gln2111_Gln2115del) deletion Conflicting interpretations of pathogenicity rs727503869 GRCh37 Chromosome X, 70361133: 70361147
6 MED12 NM_005120.2(MED12): c.6321_6335delGCAGCAGCAACAGCA (p.Gln2111_Gln2115del) deletion Conflicting interpretations of pathogenicity rs727503869 GRCh38 Chromosome X, 71141283: 71141297
7 MED12 NM_005120.2(MED12): c.438A> G (p.Leu146=) single nucleotide variant Benign/Likely benign rs35068602 GRCh37 Chromosome X, 70339905: 70339905
8 MED12 NM_005120.2(MED12): c.438A> G (p.Leu146=) single nucleotide variant Benign/Likely benign rs35068602 GRCh38 Chromosome X, 71120055: 71120055
9 MED12 NM_005120.2(MED12): c.2886C> T (p.Ser962=) single nucleotide variant Benign rs34761462 GRCh37 Chromosome X, 70347222: 70347222
10 MED12 NM_005120.2(MED12): c.2886C> T (p.Ser962=) single nucleotide variant Benign rs34761462 GRCh38 Chromosome X, 71127372: 71127372
11 MED12 NM_005120.2(MED12): c.3204C> T (p.Pro1068=) single nucleotide variant Benign/Likely benign rs201807437 GRCh37 Chromosome X, 70347965: 70347965
12 MED12 NM_005120.2(MED12): c.3204C> T (p.Pro1068=) single nucleotide variant Benign/Likely benign rs201807437 GRCh38 Chromosome X, 71128115: 71128115
13 MED12 NM_005120.2(MED12): c.381G> A (p.Thr127=) single nucleotide variant Conflicting interpretations of pathogenicity rs202125318 GRCh37 Chromosome X, 70339712: 70339712
14 MED12 NM_005120.2(MED12): c.381G> A (p.Thr127=) single nucleotide variant Conflicting interpretations of pathogenicity rs202125318 GRCh38 Chromosome X, 71119862: 71119862
15 MED12 NM_005120.2(MED12): c.4669T> C (p.Trp1557Arg) single nucleotide variant Likely pathogenic rs794727576 GRCh37 Chromosome X, 70354258: 70354258
16 MED12 NM_005120.2(MED12): c.4669T> C (p.Trp1557Arg) single nucleotide variant Likely pathogenic rs794727576 GRCh38 Chromosome X, 71134408: 71134408
17 MED12 NM_005120.2(MED12): c.5400+6C> T single nucleotide variant Conflicting interpretations of pathogenicity rs192656109 GRCh37 Chromosome X, 70356511: 70356511
18 MED12 NM_005120.2(MED12): c.5400+6C> T single nucleotide variant Conflicting interpretations of pathogenicity rs192656109 GRCh38 Chromosome X, 71136661: 71136661
19 MED12 NM_005120.2(MED12): c.6308_6309insGCAGCA (p.Gln2115_His2116insGlnGln) duplication Conflicting interpretations of pathogenicity rs766775649 GRCh37 Chromosome X, 70361115: 70361120
20 MED12 NM_005120.2(MED12): c.6308_6309insGCAGCA (p.Gln2115_His2116insGlnGln) duplication Conflicting interpretations of pathogenicity rs766775649 GRCh38 Chromosome X, 71141265: 71141270
21 MED12 NM_005120.2(MED12): c.653C> T (p.Thr218Met) single nucleotide variant Conflicting interpretations of pathogenicity rs369083173 GRCh37 Chromosome X, 70340920: 70340920
22 MED12 NM_005120.2(MED12): c.653C> T (p.Thr218Met) single nucleotide variant Conflicting interpretations of pathogenicity rs369083173 GRCh38 Chromosome X, 71121070: 71121070
23 MED12 NM_005120.2(MED12): c.1695T> A (p.Ile565=) single nucleotide variant Conflicting interpretations of pathogenicity rs138984044 GRCh38 Chromosome X, 71123671: 71123671
24 MED12 NM_005120.2(MED12): c.1695T> A (p.Ile565=) single nucleotide variant Conflicting interpretations of pathogenicity rs138984044 GRCh37 Chromosome X, 70343521: 70343521
25 MED12 NM_005120.2(MED12): c.4179A> C (p.Ser1393=) single nucleotide variant Benign/Likely benign rs376058351 GRCh38 Chromosome X, 71132132: 71132132
26 MED12 NM_005120.2(MED12): c.4179A> C (p.Ser1393=) single nucleotide variant Benign/Likely benign rs376058351 GRCh37 Chromosome X, 70351982: 70351982
27 MED12 NM_005120.2(MED12): c.204+12_204+13delCT deletion Benign rs200301833 GRCh38 Chromosome X, 71119489: 71119490
28 MED12 NM_005120.2(MED12): c.204+12_204+13delCT deletion Benign rs200301833 GRCh37 Chromosome X, 70339339: 70339340
29 MED12 NM_005120.2(MED12): c.1264C> T (p.Arg422Trp) single nucleotide variant Uncertain significance rs368913305 GRCh38 Chromosome X, 71122523: 71122523
30 MED12 NM_005120.2(MED12): c.1264C> T (p.Arg422Trp) single nucleotide variant Uncertain significance rs368913305 GRCh37 Chromosome X, 70342373: 70342373
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 rs786200971 GRCh38 Chromosome X, 71140846: 71140848
40 MED12 NM_005120.2(MED12): c.6256_6258delCAG (p.Gln2086del) deletion Conflicting interpretations of pathogenicity rs786200971 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.2881C> T (p.Arg961Trp) single nucleotide variant Pathogenic rs80338758 GRCh37 Chromosome X, 70347217: 70347217
44 MED12 NM_005120.2(MED12): c.2881C> T (p.Arg961Trp) single nucleotide variant Pathogenic rs80338758 GRCh38 Chromosome X, 71127367: 71127367
45 MED12 NM_005120.2(MED12): c.2873G> A (p.Gly958Glu) single nucleotide variant Pathogenic rs397515554 GRCh37 Chromosome X, 70347209: 70347209
46 MED12 NM_005120.2(MED12): c.2873G> A (p.Gly958Glu) single nucleotide variant Pathogenic rs397515554 GRCh38 Chromosome X, 71127359: 71127359
47 MED12 NM_005120.2(MED12): c.5535C> T (p.Asn1845=) single nucleotide variant Benign rs34784349 GRCh37 Chromosome X, 70356863: 70356863
48 MED12 NM_005120.2(MED12): c.5535C> T (p.Asn1845=) single nucleotide variant Benign rs34784349 GRCh38 Chromosome X, 71137013: 71137013
49 MED12 NM_005120.2(MED12): c.5711C> T (p.Ala1904Val) single nucleotide variant Likely benign rs200663107 GRCh37 Chromosome X, 70357196: 70357196
50 MED12 NM_005120.2(MED12): c.5711C> T (p.Ala1904Val) single nucleotide variant Likely benign rs200663107 GRCh38 Chromosome X, 71137346: 71137346

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:

38
# 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 transcription coregulator activity GO:0003712 8.62 MED12 MED13L

Sources for Opitz-Kaveggia Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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