OKS
MCID: OPT054
MIFTS: 54

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 56 12 52 25 58 73 13 43 39
Fg Syndrome 56 12 74 52 25 73 36 15 17 71
Keller Syndrome 56 12 52 25
Fgs1 56 52 25 73
Fgs 56 52 25 73
Fg Syndrome 1 56 29 6
Oks 56 25 73
Mental Retardation, Large Head, Imperforate Anus, Congenital Hypotonia, and Partial Agenesis of Corpus Callosum 56 52
Fg Syndrome Type 1 58 73
Mental Retardation, Large Head, Imperforate Anus, Congenital Hypotonia, and Partial Agenesis of the Corpus Callosum 25
Fg Syndrome 1; Fgs1 56
Fg Syndrome; Fgs 56

Characteristics:

OMIM:

56
Inheritance:
x-linked recessive


HPO:

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


Classifications:

Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis


Summaries for Opitz-Kaveggia Syndrome

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. FG syndrome affects intelligence and behavior. Almost everyone with the condition has intellectual disability, which ranges from mild to severe. Affected individuals tend to be friendly, inquisitive, and hyperactive, with a short attention span. Compared to people with other forms of intellectual disability, their socialization and daily living skills are strong, while verbal communication and language skills tend to be weaker. The physical features of FG syndrome include weak muscle tone (hypotonia), broad thumbs, and wide first (big) toes. Abnormalities of the tissue connecting the left and right halves of the brain (the corpus callosum) are also common. Most affected individuals have constipation, and many have abnormalities of the anus such as an obstruction of the anal opening (imperforate anus). People with FG syndrome also tend to have a distinctive facial appearance including small, underdeveloped ears; a tall, prominent forehead; and outside corners of the eyes that point downward (down-slanting palpebral fissures). Additional features seen in some people with FG syndrome include widely set eyes (hypertelorism), an upswept frontal hairline, and a large head compared to body size (relative macrocephaly). Other health problems have also been reported, including heart defects, seizures, undescended testes (cryptorchidism) in males, and a soft out-pouching in the lower abdomen (an inguinal hernia).

MalaCards based summary : Opitz-Kaveggia Syndrome, also known as fg syndrome, is related to x-linked intellectual disability with marfanoid habitus and congenital nystagmus, 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 drug Astragalus has been mentioned in the context of this disorder. Affiliated tissues include heart, testes and eye, and related phenotypes are global developmental delay and inguinal hernia

Disease Ontology : 12 A syndrome 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.

NIH Rare Diseases : 52 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.

OMIM : 56 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)

KEGG : 36 FG syndrome (FGS), also known as Opitz-Kaveggia syndrome, is a rare X-linked multiple congenital anomaly/mental retardation (MCA/MR) disorder characterized by high clinical variability and genetic heterogeneity. The cardinal features of the syndrome are congenital hypotonia, delayed development of speech, relative macrocephaly (as compared to height and weight), anal anomalies or severe constipation, and dysmorphic facial features. Five loci have so far been linked to this phenotype on the X chromosome. A recurrent missense mutation in the MED12 gene has been identified as the cause for the subset of FGS cases. Filamin A gene (FLNA) and CASK gene mutations could be another causes of FG syndrome.

UniProtKB/Swiss-Prot : 73 Opitz-Kaveggia syndrome: X-linked disorder characterized by mental retardation, relative macrocephaly, hypotonia and constipation.

Wikipedia : 74 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 232)
# Related Disease Score Top Affiliating Genes
1 x-linked intellectual disability with marfanoid habitus 30.5 UPF3B MED12
2 congenital nystagmus 30.1 CRYZL1 CASK
3 opitz-gbbb syndrome 30.1 TRIM17 MID2
4 fg syndrome 3 12.5
5 fg syndrome 5 12.5
6 intellectual developmental disorder, x-linked, syndromic, lujan-fryns type 11.6
7 vaccinia 11.6
8 focal segmental glomerulosclerosis 11.5
9 fg syndrome 4 11.4
10 ulnar neuropathy 11.3
11 fg syndrome 2 11.3
12 cask-related disorders 11.2
13 syndromic x-linked intellectual disability 14 11.2
14 med12-related disorders 10.7
15 hypotonia 10.6
16 anus, imperforate 10.5
17 fryns syndrome 10.4 UPF3B MED12
18 alacrima, achalasia, and mental retardation syndrome 10.4
19 constipation 10.4
20 osteoarthritis 10.4
21 alzheimer disease 10.3
22 lymphopenia 10.3
23 ohdo syndrome 10.3 MED13L MED12 CDK8
24 multiple congenital anomalies/dysmorphic syndrome-intellectual disability 10.3
25 uterine benign neoplasm 10.3 MED12 CDK8 CCNC
26 med23 10.3 MED23 CCNC
27 reproductive organ benign neoplasm 10.3 MED12 CDK8 CCNC
28 pancreatic cancer 10.3
29 hypertelorism 10.3
30 thoracic benign neoplasm 10.3 MED12 CDK8
31 nephrotic syndrome 10.2
32 diabetes mellitus, insulin-dependent, 2 10.2
33 diabetes mellitus, type i 10.2
34 filariasis 10.2
35 pertussis 10.2
36 spasticity 10.2
37 autosomal dominant non-syndromic intellectual disability 5 10.2 ZNF41 DLG3
38 diabetes mellitus, insulin-dependent, 3 10.2
39 human immunodeficiency virus type 1 10.2
40 splenomegaly 10.2
41 anxiety 10.1
42 rapidly involuting congenital hemangioma 10.1
43 cryptorchidism, unilateral or bilateral 10.1
44 hypospadias 10.1
45 diabetes mellitus, insulin-dependent, 4 10.1
46 gastric cancer 10.1
47 joint laxity, short stature, and myopia 10.1
48 cardiac arrest 10.1
49 myopia 10.1
50 acute leukemia 10.1

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:

58 31 (show top 50) (show all 110)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 global developmental delay 58 31 frequent (33%) Frequent (79-30%) HP:0001263
2 inguinal hernia 58 31 frequent (33%) Frequent (79-30%) HP:0000023
3 hypertelorism 58 31 frequent (33%) Frequent (79-30%) HP:0000316
4 macrocephaly 58 31 frequent (33%) Frequent (79-30%) HP:0000256
5 delayed speech and language development 58 31 frequent (33%) Frequent (79-30%) HP:0000750
6 pes planus 58 31 frequent (33%) Frequent (79-30%) HP:0001763
7 microtia 58 31 frequent (33%) Frequent (79-30%) HP:0008551
8 thick vermilion border 58 31 frequent (33%) Frequent (79-30%) HP:0012471
9 short stature 58 31 frequent (33%) Frequent (79-30%) HP:0004322
10 strabismus 58 31 frequent (33%) Frequent (79-30%) HP:0000486
11 prominent occiput 58 31 frequent (33%) Frequent (79-30%) HP:0000269
12 cryptorchidism 58 31 frequent (33%) Frequent (79-30%) HP:0000028
13 high palate 58 31 frequent (33%) Frequent (79-30%) HP:0000218
14 micrognathia 58 31 frequent (33%) Frequent (79-30%) HP:0000347
15 broad neck 58 31 frequent (33%) Frequent (79-30%) HP:0000475
16 atrial septal defect 58 31 frequent (33%) Frequent (79-30%) HP:0001631
17 wide mouth 58 31 frequent (33%) Frequent (79-30%) HP:0000154
18 slender build 58 31 frequent (33%) Frequent (79-30%) HP:0001533
19 dental crowding 58 31 frequent (33%) Frequent (79-30%) HP:0000678
20 downslanted palpebral fissures 58 31 frequent (33%) Frequent (79-30%) HP:0000494
21 long philtrum 58 31 frequent (33%) Frequent (79-30%) HP:0000343
22 ventriculomegaly 58 31 frequent (33%) Frequent (79-30%) HP:0002119
23 intellectual disability, moderate 58 31 frequent (33%) Frequent (79-30%) HP:0002342
24 malar flattening 58 31 frequent (33%) Frequent (79-30%) HP:0000272
25 hypospadias 58 31 frequent (33%) Frequent (79-30%) HP:0000047
26 high forehead 58 31 frequent (33%) Frequent (79-30%) HP:0000348
27 pyloric stenosis 58 31 frequent (33%) Frequent (79-30%) HP:0002021
28 premature birth 58 31 frequent (33%) Frequent (79-30%) HP:0001622
29 abnormal cerebellum morphology 58 31 frequent (33%) Frequent (79-30%) HP:0001317
30 aplasia/hypoplasia of the corpus callosum 58 31 frequent (33%) Frequent (79-30%) HP:0007370
31 stenosis of the external auditory canal 58 31 frequent (33%) Frequent (79-30%) HP:0000402
32 plagiocephaly 58 31 frequent (33%) Frequent (79-30%) HP:0001357
33 broad-based gait 58 31 frequent (33%) Frequent (79-30%) HP:0002136
34 abnormality of the sternum 58 31 frequent (33%) Frequent (79-30%) HP:0000766
35 cupped ear 58 31 frequent (33%) Frequent (79-30%) HP:0000378
36 prominent nose 58 31 frequent (33%) Frequent (79-30%) HP:0000448
37 generalized neonatal hypotonia 58 31 frequent (33%) Frequent (79-30%) HP:0008935
38 optic nerve hypoplasia 58 31 frequent (33%) Frequent (79-30%) HP:0000609
39 fused teeth 58 31 frequent (33%) Frequent (79-30%) HP:0011090
40 generalized joint laxity 58 31 frequent (33%) Frequent (79-30%) HP:0002761
41 drooling 58 31 frequent (33%) Frequent (79-30%) HP:0002307
42 small pituitary gland 58 31 frequent (33%) Frequent (79-30%) HP:0012506
43 broad toe 58 31 frequent (33%) Frequent (79-30%) HP:0001837
44 widely patent fontanelles and sutures 58 31 frequent (33%) Frequent (79-30%) HP:0004492
45 frontal upsweep of hair 58 31 frequent (33%) Frequent (79-30%) HP:0002236
46 malrotation of colon 58 31 frequent (33%) Frequent (79-30%) HP:0004785
47 limited elbow extension and supination 58 31 frequent (33%) Frequent (79-30%) HP:0005852
48 umbilical hernia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001537
49 hydrocephalus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000238
50 sensorineural hearing impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0000407

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
global developmental delay
seizures
hydrocephalus
neonatal hypotonia
agenesis of corpus callosum
more
Head And Neck Mouth:
narrow palate
cleft palate
cleft lip
large mouth
prominent lower lip

Head And Neck Neck:
short neck

Abdomen External Features:
umbilical hernia

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

Respiratory Nasopharynx:
choanal atresia

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

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

Head And Neck Nose:
prominent nose

Skeletal Spine:
lumbar hyperlordosis

Voice:
high-pitched voice

Skeletal Skull:
delayed closure of anterior fontanel

Genitourinary Internal Genitalia Male:
inguinal hernia
cryptorchidism

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

Head And Neck Head:
macrocephaly
plagiocephaly
large anterior fontanel

Growth Height:
short stature

Head And Neck Teeth:
dental crowding

Abdomen Gastrointestinal:
constipation
pyloric stenosis
anteriorly placed anus
anal stenosis
imperforate anus
more
Genitourinary External Genitalia Male:
hypospadias

Skeletal Hands:
single transverse palmar crease
camptodactyly
clinodactyly
syndactyly
broad thumbs
more
Neurologic Behavioral Psychiatric Manifestations:
hyperactivity
attention deficit disorder
friendly, sociable personality

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

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 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 1 29 MED12

Anatomical Context for Opitz-Kaveggia Syndrome

MalaCards organs/tissues related to Opitz-Kaveggia Syndrome:

40
Heart, Testes, Eye, Brain, Skin, Cerebellum, Colon

Publications for Opitz-Kaveggia Syndrome

Articles related to Opitz-Kaveggia Syndrome:

(show top 50) (show all 101)
# Title Authors PMID Year
1
A recurrent mutation in MED12 leading to R961W causes Opitz-Kaveggia syndrome. 6 56 61
17334363 2007
2
FG syndrome, an X-linked multiple congenital anomaly syndrome: the clinical phenotype and an algorithm for diagnostic testing. 56 61
19938245 2009
3
Behavior of 10 patients with FG syndrome (Opitz-Kaveggia syndrome) and the p.R961W mutation in the MED12 gene. 56 61
18973276 2008
4
Mediator links epigenetic silencing of neuronal gene expression with x-linked mental retardation. 61 6
18691967 2008
5
MED12-Related Disorders 61 6
20301719 2008
6
The FG syndrome: report of a large Italian series. 56 61
16691600 2006
7
Skewed X chromosome inactivation in carriers is not a constant finding in FG syndrome. 61 56
12700610 2003
8
Mapping of X chromosome inversion breakpoints [inv(X)(q11q28)] associated with FG syndrome: a second FG locus [FGS2]? 61 56
11078572 2000
9
Exclusion of nine candidate genes for their involvement in X-linked FG syndrome (FGS1) in three families. 56 61
11050623 2000
10
Esophageal dysmotility in brothers with an FG-like syndrome. 61 56
10756339 2000
11
Paracentric inversion of the X chromosome [inv(X)(q12q28)] in familial FG syndrome. 61 56
10449643 1999
12
Clinical and behavioral characteristics in FG syndrome. 61 56
10405444 1999
13
FG syndrome: report of three new families with linkage to Xq12-q22.1. 61 56
9805132 1998
14
Syndromal foramina parietalia permagna: "new" or FG syndrome? Comments on the paper by Chrzanowska et al [1998]. 61 56
9714004 1998
15
A gene for FG syndrome maps in the Xq12-q21.31 region. 61 56
9375929 1997
16
FG syndrome: the trias mental retardation, hypotonia and constipation reviewed. 61 56
8775418 1995
17
Japanese kindred with FG syndrome. 61 56
7802020 1994
18
A clinical follow-up of British patients with FG syndrome. 56 61
8055129 1994
19
X linked mental retardation: a family with a separate syndrome? 61 56
2738899 1989
20
FG syndrome update 1988: note of 5 new patients and bibliography. 61 56
3052062 1988
21
FG syndrome. 61 56
3572995 1987
22
Necropsy findings in a child with FG syndrome. 61 56
3746847 1986
23
The FG syndrome: 7 new cases. 56 61
4017279 1985
24
Sensorineural deafness in the FG syndrome: report on four new cases. 56 61
6542310 1984
25
Diagnostic definition of the FG syndrome. 61 56
6507483 1984
26
FG syndrome in a premature male. 61 56
6507484 1984
27
Two retarded male cousins with odd facies, hypotonia, and severe constipation: possible examples of the X linked FG syndrome. 56 61
6682449 1983
28
Studies of malformation syndromes of humans XXXIIIC: the FG syndrome - further studies on three affected individuals from the FG family. 61 56
7201743 1982
29
The FG syndrome: further characterization, report of a third family, and of a sporadic case. 61 56
565138 1977
30
Studies of malformation syndromes of man 33: the FG syndrome. An X-linked recessive syndrome of multiple congenital anomalies and mental retardation. 61 56
4365204 1974
31
Syndromic foramina parietalia permagna. 56
9714003 1998
32
A new syndrome of mental deficiency with craniofacial, limb, and anal abnormalities. 56
1255317 1976
33
HEREDITARY PARTIAL AGENESIS OF CORPUS CALLOSUM; BIOCHEMICAL AND PATHOLOGICAL STUDIES. 56
14158525 1964
34
MED12 missense mutation in a three-generation family. Clinical characterization of MED12-related disorders and literature review. 61
31536828 2020
35
A male infant with Xq22.2q22.3 duplication containing PLP1 and MID2. 61
31951325 2020
36
[Long-term efficacy analysis of laparoscopic-assisted anorectoplasty for high and middle imperforate anus]. 61
31874535 2019
37
Dysregulations of sonic hedgehog signaling in MED12-related X-linked intellectual disability disorders. 61
30729724 2019
38
Familial Ebstein Anomaly: Whole Exome Sequencing Identifies Novel Phenotype Associated With FLNA. 61
29237676 2017
39
A novel variant in MED12 gene: Further delineation of phenotype. 61
28544239 2017
40
A novel CASK mutation identified in siblings exhibiting developmental disorders with/without microcephaly. 61
28944139 2017
41
A de novo splice site mutation in CASK causes FG syndrome-4 and congenital nystagmus. 61
28139025 2017
42
De novo mutations in genes of mediator complex causing syndromic intellectual disability: mediatorpathy or transcriptomopathy? 61
27500536 2016
43
Two male sibs with severe micrognathia and a missense variant in MED12. 61
27286923 2016
44
Blepharophimosis, short humeri, developmental delay and hirschsprung disease: expanding the phenotypic spectrum of MED12 mutations. 61
24715367 2014
45
Clinical and neurocognitive characterization of a family with a novel MED12 gene frameshift mutation. 61
24039113 2013
46
MED12 related disorders. 61
24123922 2013
47
MED12 mutations in human diseases. 61
23836153 2013
48
CASK aberrations in male patients with Ohtahara syndrome and cerebellar hypoplasia. 61
22709267 2012
49
FG syndrome: the FGS2 locus revisited. 61
22528511 2012
50
The 22q13.3 Deletion Syndrome (Phelan-McDermid Syndrome). 61
22670140 2012

Variations for Opitz-Kaveggia Syndrome

ClinVar genetic disease variations for Opitz-Kaveggia Syndrome:

6 (show top 50) (show all 182) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 MED12 NM_005120.3(MED12):c.2881C>T (p.Arg961Trp)SNV Pathogenic 11520 rs80338758 X:70347217-70347217 X:71127367-71127367
2 MED12 NM_005120.3(MED12):c.2873G>A (p.Gly958Glu)SNV Pathogenic 65683 rs397515554 X:70347209-70347209 X:71127359-71127359
3 MED12 NM_005120.3(MED12):c.2444G>A (p.Arg815Gln)SNV Pathogenic 252962 rs762905361 X:70345907-70345907 X:71126057-71126057
4 MED12 NM_005120.3(MED12):c.3067A>G (p.Ile1023Val)SNV Pathogenic 252963 rs879255526 X:70347828-70347828 X:71127978-71127978
5 MED12 NM_005120.3(MED12):c.5898dup (p.Ser1967fs)duplication Likely pathogenic 252964 rs879255527 X:70357641-70357642 X:71137791-71137792
6 MED12 NM_005120.3(MED12):c.1862G>A (p.Arg621Gln)SNV Likely pathogenic 225253 rs1057519381 X:70344126-70344126 X:71124276-71124276
7 MED12 NM_005120.3(MED12):c.224G>C (p.Ser75Thr)SNV Likely pathogenic 804025 X:70339555-70339555 X:71119705-71119705
8 MED12 NM_005120.3(MED12):c.3505G>T (p.Ala1169Ser)SNV Likely pathogenic 666337 X:70348993-70348993 X:71129143-71129143
9 MED12 NM_005120.3(MED12):c.1546C>T (p.Arg516Cys)SNV Likely pathogenic 619013 rs1569481124 X:70343005-70343005 X:71123155-71123155
10 MED12 NM_005120.3(MED12):c.6309_6314ACAGCA[1] (p.Gln2114_Gln2115del)short repeat Conflicting interpretations of pathogenicity 458830 rs764789036 X:70361116-70361121 X:71141266-71141271
11 MED12 NM_005120.3(MED12):c.2613G>A (p.Gln871=)SNV Conflicting interpretations of pathogenicity 498668 rs372344160 X:70346262-70346262 X:71126412-71126412
12 MED12 NM_005120.3(MED12):c.3219C>T (p.Asp1073=)SNV Conflicting interpretations of pathogenicity 498671 rs1266845318 X:70348155-70348155 X:71128305-71128305
13 MED12 NM_005120.3(MED12):c.3691+4C>TSNV Conflicting interpretations of pathogenicity 408884 rs373381746 X:70349283-70349283 X:71129433-71129433
14 MED12 NM_005120.3(MED12):c.4238C>A (p.Thr1413Asn)SNV Conflicting interpretations of pathogenicity 408880 rs759532414 X:70352041-70352041 X:71132191-71132191
15 MED12 NM_005120.3(MED12):c.6288_6290GCA[8] (p.Gln2115dup)short repeat Conflicting interpretations of pathogenicity 418565 rs766775649 X:70361097-70361098 X:71141247-71141248
16 MED12 NM_005120.3(MED12):c.6309_6314ACAGCA[3] (p.Gln2114_Gln2115dup)short repeat Conflicting interpretations of pathogenicity 445536 rs764789036 X:70361115-70361116 X:71141265-71141266
17 MED12 NM_005120.3(MED12):c.6279_6284ACAGCA[3] (p.Gln2114_Gln2115dup)short repeat Conflicting interpretations of pathogenicity 509645 rs761195801 X:70361085-70361086 X:71141235-71141236
18 MED12 NM_005120.3(MED12):c.5593A>G (p.Met1865Val)SNV Conflicting interpretations of pathogenicity 134637 rs587778438 X:70357078-70357078 X:71137228-71137228
19 MED12 NM_005120.3(MED12):c.6241_6243CAG[7] (p.Gln2086dup)short repeat Conflicting interpretations of pathogenicity 166876 rs786200971 X:70360679-70360680 X:71140829-71140830
20 MED12 NM_005120.3(MED12):c.6321_6335del (p.Gln2111_Gln2115del)deletion Conflicting interpretations of pathogenicity 166877 rs727503869 X:70361122-70361136 X:71141272-71141286
21 MED12 NM_005120.3(MED12):c.381G>A (p.Thr127=)SNV Conflicting interpretations of pathogenicity 196405 rs202125318 X:70339712-70339712 X:71119862-71119862
22 MED12 NM_005120.3(MED12):c.5400+6C>TSNV Conflicting interpretations of pathogenicity 197009 rs192656109 X:70356511-70356511 X:71136661-71136661
23 MED12 NM_005120.3(MED12):c.6288_6290GCA[9] (p.Gln2114_Gln2115dup)short repeat Conflicting interpretations of pathogenicity 197488 rs766775649 X:70361097-70361098 X:71141247-71141248
24 MED12 NM_005120.3(MED12):c.4179A>C (p.Ser1393=)SNV Conflicting interpretations of pathogenicity 211475 rs376058351 X:70351982-70351982 X:71132132-71132132
25 MED12 NM_005120.3(MED12):c.4488C>T (p.Arg1496=)SNV Conflicting interpretations of pathogenicity 211476 rs531754497 X:70352767-70352767 X:71132917-71132917
26 MED12 NM_005120.3(MED12):c.1849A>G (p.Thr617Ala)SNV Conflicting interpretations of pathogenicity 213633 rs765417606 X:70344113-70344113 X:71124263-71124263
27 MED12 NM_005120.3(MED12):c.4115A>G (p.Asn1372Ser)SNV Conflicting interpretations of pathogenicity 213623 rs202009066 X:70351467-70351467 X:71131617-71131617
28 MED12 NM_005120.3(MED12):c.4147G>A (p.Ala1383Thr)SNV Conflicting interpretations of pathogenicity 213624 rs863223696 X:70351950-70351950 X:71132100-71132100
29 MED12 NM_005120.3(MED12):c.6208_6210CAG[9] (p.Gln2075_Gln2076dup)short repeat Conflicting interpretations of pathogenicity 213619 rs757160341 X:70360647-70360648 X:71140797-71140798
30 MED12 NM_005120.3(MED12):c.6241_6243CAG[5] (p.Gln2086del)short repeat Conflicting interpretations of pathogenicity 213650 rs786200971 X:70360680-70360682 X:71140830-71140832
31 MED12 NM_005120.3(MED12):c.1744+4C>TSNV Conflicting interpretations of pathogenicity 388498 rs780750721 X:70343574-70343574 X:71123724-71123724
32 MED12 NM_005120.3(MED12):c.2068A>G (p.Thr690Ala)SNV Uncertain significance 240095 rs878854752 X:70344838-70344838 X:71124988-71124988
33 MED12 NM_005120.3(MED12):c.5922G>T (p.Gln1974His)SNV Uncertain significance 252965 rs879255528 X:70357671-70357671 X:71137821-71137821
34 MED12 NM_005120.3(MED12):c.4253+4G>ASNV Uncertain significance 264566 rs750162341 X:70352060-70352060 X:71132210-71132210
35 MED12 NM_005120.3(MED12):c.4028G>A (p.Arg1343His)SNV Uncertain significance 220794 rs201044355 X:70350045-70350045 X:71130195-71130195
36 MED12 NM_005120.3(MED12):c.6097A>G (p.Met2033Val)SNV Uncertain significance 213627 rs372606012 X:70360537-70360537 X:71140687-71140687
37 MED12 NM_005120.3(MED12):c.4021C>T (p.Arg1341Trp)SNV Uncertain significance 213641 rs777250096 X:70350038-70350038 X:71130188-71130188
38 MED12 NM_005120.3(MED12):c.1039A>G (p.Ser347Gly)SNV Uncertain significance 213631 rs752300879 X:70341604-70341604 X:71121754-71121754
39 MED12 NM_005120.3(MED12):c.1264C>T (p.Arg422Trp)SNV Uncertain significance 213632 rs368913305 X:70342373-70342373 X:71122523-71122523
40 MED12 NM_005120.3(MED12):c.568A>G (p.Ile190Val)SNV Uncertain significance 134638 rs374780236 X:70340835-70340835 X:71120985-71120985
41 MED12 NM_005120.3(MED12):c.3587C>A (p.Thr1196Lys)SNV Uncertain significance 528483 rs1556336812 X:70349175-70349175 X:71129325-71129325
42 MED12 NM_005120.3(MED12):c.4154C>T (p.Ala1385Val)SNV Uncertain significance 528482 rs771349148 X:70351957-70351957 X:71132107-71132107
43 MED12 NM_005120.3(MED12):c.628G>C (p.Ala210Pro)SNV Uncertain significance 560275 rs1379201163 X:70340895-70340895 X:71121045-71121045
44 MED12 NM_005120.3(MED12):c.1963A>G (p.Ser655Gly)SNV Uncertain significance 570289 rs1569481250 X:70344227-70344227 X:71124377-71124377
45 MED12 NM_005120.3(MED12):c.2422+6T>GSNV Uncertain significance 572431 rs1569481413 X:70345569-70345569 X:71125719-71125719
46 MED12 NM_005120.3(MED12):c.6186_6188GCA[3] (p.Gln2075_Gln2076del)short repeat Uncertain significance 578555 rs754533796 X:70360624-70360629 X:71140774-71140779
47 MED12 NM_005120.3(MED12):c.3693G>T (p.Gly1231=)SNV Uncertain significance 576481 rs965896553 X:70349531-70349531 X:71129681-71129681
48 MED12 NM_005120.3(MED12):c.1619G>A (p.Arg540His)SNV Uncertain significance 578754 rs774363039 X:70343445-70343445 X:71123595-71123595
49 MED12 NM_005120.3(MED12):c.5192G>A (p.Arg1731Lys)SNV Uncertain significance 571606 rs1569482278 X:70356297-70356297 X:71136447-71136447
50 MED12 NM_005120.3(MED12):c.6288_6290GCA[6] (p.Gln2115del)short repeat Uncertain significance 573087 rs766775649 X:70361098-70361100 X:71141248-71141250

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

73
# Symbol AA change Variation ID SNP ID
1 MED12 p.Arg961Trp VAR_033112 rs80338758

Copy number variations for Opitz-Kaveggia Syndrome from CNVD:

7
# CNVD ID Chromosome 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

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.91 MED23 MED13L MED13 MED12 DLG3 CDK8
2
Show member pathways
12.58 MED23 MED13 MED12 CDK8 CCNC
3
Show member pathways
11.87 MED23 MED13L MED13 MED12 CDK8 CCNC
4 11.21 MED13L MED13 MED12
5 10.76 CDK8 CCNC

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 9.1 MED23 MED13L MED13 MED12 CDK8 CCNC

Biological processes related to Opitz-Kaveggia Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transcription initiation from RNA polymerase II promoter GO:0006367 9.02 MED23 MED13 MED12 CDK8 CCNC

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

# Name GO ID Score Top Affiliating Genes
1 thyroid hormone receptor binding GO:0046966 9.16 MED13 MED12
2 transcription coregulator activity GO:0003712 9.13 MED13L MED13 MED12
3 vitamin D receptor binding GO:0042809 8.62 MED13 MED12

Sources for Opitz-Kaveggia Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
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50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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