OKS
MCID: OPT054
MIFTS: 32

Opitz-Kaveggia Syndrome (OKS) malady

Categories: Genetic diseases, Rare diseases

Aliases & Classifications for Opitz-Kaveggia Syndrome

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Sources:
12diseasecard, 24GeneTests, 27GTR, 31ICD10 via Orphanet, 37MedGen, 40MESH via Orphanet, 52OMIM, 54Orphanet, 64The Human Phenotype Ontology, 68UMLS, 69UMLS via Orphanet, 70UniProtKB/Swiss-Prot
See all MalaCards sources

Aliases & Descriptions for Opitz-Kaveggia Syndrome:

Name: Opitz-Kaveggia Syndrome 52 24 54 70 12
Fg Syndrome Type 1 24 54 70
Fg Syndrome 70 27 68
 
Fgs1 24 70
Fgs 70
Oks 70

Characteristics:

HPO:

64
opitz-kaveggia syndrome:
Inheritance: x-linked recessive inheritance

Classifications:



External Ids:

OMIM52 305450
Orphanet54 ORPHA93932
MESH via Orphanet40 C537923
ICD10 via Orphanet31 Q87.8
UMLS via Orphanet69 C0220769
MedGen37 C0220769

Summaries for Opitz-Kaveggia Syndrome

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OMIM:52 Opitz-Kaveggia syndrome (OKS) is an X-linked recessive mental retardation syndrome characterized by dysmorphic... (305450) more...

MalaCards based summary: Opitz-Kaveggia Syndrome, also known as fg syndrome type 1, is related to fg syndrome 2 and fg syndrome 4, and has symptoms including constipation, constipation and seizures. An important gene associated with Opitz-Kaveggia Syndrome is MED12 (Mediator Complex Subunit 12). Affiliated tissues include skin and heart.

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.

UniProtKB/Swiss-Prot:70 Opitz-Kaveggia syndrome: X-linked disorder characterized by mental retardation, relative macrocephaly, hypotonia and constipation.

Related Diseases for Opitz-Kaveggia Syndrome

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

idRelated DiseaseScoreTop Affiliating Genes
1fg syndrome 212.2
2fg syndrome 412.2
3fg syndrome 311.9
4fg syndrome 511.9
5focal segmental glomerulosclerosis11.4
6lujan-fryns syndrome11.2
7syndromic x-linked intellectual disability 1411.1

Graphical network of diseases related to Opitz-Kaveggia Syndrome:



Diseases related to opitz-kaveggia syndrome

Symptoms & Phenotypes for Opitz-Kaveggia Syndrome

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Symptoms by clinical synopsis from OMIM:

305450

Clinical features from OMIM:

305450

Human phenotypes related to Opitz-Kaveggia Syndrome:

 64 (show all 66)
id Description HPO Frequency HPO Source Accession
1 inguinal hernia64 HP:0000023
2 cryptorchidism64 HP:0000028
3 hypospadias64 HP:0000047
4 wide mouth64 HP:0000154
5 cleft palate64 HP:0000175
6 thick lower lip vermilion64 HP:0000179
7 narrow palate64 HP:0000189
8 cleft upper lip64 HP:0000204
9 hydrocephalus64 HP:0000238
10 wide anterior fontanel64 HP:0000260
11 epicanthus64 HP:0000286
12 hypertelorism64 HP:0000316
13 long philtrum64 HP:0000343
14 micrognathia64 HP:0000347
15 sensorineural hearing impairment64 HP:0000407
16 prominent nose64 HP:0000448
17 choanal atresia64 HP:0000453
18 short neck64 HP:0000470
19 strabismus64 HP:0000486
20 downslanted palpebral fissures64 HP:0000494
21 dental crowding64 HP:0000678
22 abnormality of the sternum64 HP:0000766
23 single transverse palmar crease64 HP:0000954
24 sacral dimple64 HP:0000960
25 syndactyly64 HP:0001159
26 split hand64 HP:0001171
27 prominent fingertip pads64 HP:0001212
28 intellectual disability64 HP:0001249
29 seizures64 HP:0001250
30 global developmental delay64 HP:0001263
31 motor delay64 HP:0001270
32 neonatal hypotonia64 HP:0001319
33 partial agenesis of the corpus callosum64 HP:0001338
34 plagiocephaly64 HP:0001357
35 delayed closure of the anterior fontanelle64 HP:0001476
36 umbilical hernia64 HP:0001537
37 anteriorly placed anus64 HP:0001545
38 high pitched voice64 HP:0001620
39 abnormal heart morphology64 HP:0001627
40 abnormality of the nasopharynx64 HP:0001739
41 frontal bossing64 HP:0002007
42 constipation64 HP:0002019
43 pyloric stenosis64 HP:0002021
44 anal atresia64 HP:0002023
45 anal stenosis64 HP:0002025
46 fine hair64 HP:0002213
47 frontal upsweep of hair64 HP:0002236
48 heterotopia64 HP:0002282
49 intestinal malrotation64 HP:0002566
50 multiple joint contractures64 HP:0002828
51 lumbar hyperlordosis64 HP:0002938
52 short stature64 HP:0004322
53 postnatal macrocephaly64 HP:0005490
54 joint swelling onset late infancy64 HP:0005833
55 attention deficit hyperactivity disorder64 HP:0007018
56 sparse hair64 HP:0008070
57 radial deviation of finger64 HP:0009466
58 joint contracture of the hand64 HP:0009473
59 facial wrinkling64 HP:0009762
60 broad hallux64 HP:0010055
61 skin tags64 HP:0010609
62 prominent forehead64 HP:0011220
63 microtia, first degree64 HP:0011266
64 broad thumb64 HP:0011304
65 camptodactyly64 HP:0012385
66 clinodactyly64 HP:0030084

UMLS symptoms related to Opitz-Kaveggia Syndrome:


constipation, seizures

Drugs & Therapeutics for Opitz-Kaveggia Syndrome

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

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1Neuroserpin3
2AstragalusNutraceutical55

Interventional clinical trials:

idNameStatusNCT IDPhase
1Genetic Disease Gene IdentificationUnknown statusNCT00916903

Search NIH Clinical Center for Opitz-Kaveggia Syndrome

Genetic Tests for Opitz-Kaveggia Syndrome

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Genetic tests related to Opitz-Kaveggia Syndrome:

id Genetic test Affiliating Genes
1 Fg Syndrome27
2 Fg Syndrome Type 124 MED12

Anatomical Context for Opitz-Kaveggia Syndrome

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MalaCards organs/tissues related to Opitz-Kaveggia Syndrome:

36
Skin, Heart

Publications for Opitz-Kaveggia Syndrome

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Articles related to Opitz-Kaveggia Syndrome:

idTitleAuthorsYear
1
A novel mutation in MED12 causes FG syndrome (Opitz-Kaveggia syndrome). (20507344)
2011
2
Behavioral features in young adults with FG syndrome (Opitz-Kaveggia syndrome). (20981778)
2010
3
Behavior of 10 patients with FG syndrome (Opitz-Kaveggia syndrome) and the p.R961W mutation in the MED12 gene. (18973276)
2008
4
A recurrent mutation in MED12 leading to R961W causes Opitz-Kaveggia syndrome. (17334363)
2007

Variations for Opitz-Kaveggia Syndrome

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

70
id Symbol AA change Variation ID SNP ID
1MED12p.Arg961TrpVAR_033112rs80338758

Clinvar genetic disease variations for Opitz-Kaveggia Syndrome:

5
id Gene Variation Type Significance SNP ID Assembly Location
1MED12NM_ 005120.2(MED12): c.2881C> T (p.Arg961Trp)SNVPathogenicrs80338758GRCh37Chr X, 70347217: 70347217
2MED12NM_ 005120.2(MED12): c.4147G> A (p.Ala1383Thr)SNVPathogenicrs863223696GRCh37Chr X, 70351950: 70351950
3MED12NM_ 005120.2(MED12): c.1862G> A (p.Arg621Gln)SNVLikely pathogenicrs1057519381GRCh38Chr X, 71124276: 71124276
4MED12NM_ 005120.2(MED12): c.2444G> A (p.Arg815Gln)SNVPathogenicrs762905361GRCh38Chr X, 71126057: 71126057
5MED12NM_ 005120.2(MED12): c.3067A> G (p.Ile1023Val)SNVPathogenicrs879255526GRCh37Chr X, 70347828: 70347828
6MED12NM_ 005120.2(MED12): c.5898dupC (p.Ser1967GlnfsTer84)duplicationPathogenicrs879255527GRCh37Chr X, 70357647: 70357647
7MED12NM_ 005120.2(MED12): c.5922G> T (p.Gln1974His)SNVPathogenicrs879255528GRCh37Chr X, 70357671: 70357671
8MED12NM_ 005120.2(MED12): c.2873G> A (p.Gly958Glu)SNVPathogenicrs397515554GRCh37Chr X, 70347209: 70347209

Copy number variations for Opitz-Kaveggia Syndrome from CNVD:

6
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1264548X6770000076000000Copy numberOpitz-Kaveggia syndrome

Expression for genes affiliated with Opitz-Kaveggia Syndrome

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

Pathways for genes affiliated with Opitz-Kaveggia Syndrome

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GO Terms for genes affiliated with Opitz-Kaveggia Syndrome

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Sources for Opitz-Kaveggia Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet