OKS
MCID: OPT054
MIFTS: 32

Opitz-Kaveggia Syndrome (OKS) malady

Categories: Genetic diseases, Rare diseases

Aliases & Classifications for Opitz-Kaveggia Syndrome

Aliases & Descriptions for Opitz-Kaveggia Syndrome:

Name: Opitz-Kaveggia Syndrome 54 24 56 66 13
Fg Syndrome Type 1 24 56 66
Fg Syndrome 66 29 69
Fgs1 24 66
Fgs 66
Oks 66

Characteristics:

HPO:

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


Classifications:



External Ids:

OMIM 54 305450
Orphanet 56 ORPHA93932
MESH via Orphanet 43 C537923
ICD10 via Orphanet 34 Q87.8
UMLS via Orphanet 70 C0220769
MedGen 40 C0220769

Summaries for Opitz-Kaveggia Syndrome

OMIM : 54 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, seizures and hypertelorism. An important gene associated with Opitz-Kaveggia Syndrome is MED12 (Mediator Complex Subunit 12). The drugs Neuroserpin and Astragalus have been mentioned in the context of this disorder. Affiliated tissues include heart and skin.

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

Related Diseases for Opitz-Kaveggia Syndrome

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

id Related Disease Score Top Affiliating Genes
1 fg syndrome 2 12.2
2 fg syndrome 4 12.2
3 fg syndrome 3 11.9
4 fg syndrome 5 11.9
5 focal segmental glomerulosclerosis 11.4
6 lujan-fryns syndrome 11.2
7 syndromic x-linked intellectual disability 14 11.1

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



Diseases related to Opitz-Kaveggia Syndrome

Symptoms & Phenotypes for Opitz-Kaveggia Syndrome

Symptoms by clinical synopsis from OMIM:

305450

Clinical features from OMIM:

305450

Human phenotypes related to Opitz-Kaveggia Syndrome:

32 (show top 50) (show all 66)
id Description HPO Frequency HPO Source Accession
1 constipation 32 HP:0002019
2 seizures 32 HP:0001250
3 hypertelorism 32 HP:0000316
4 short neck 32 HP:0000470
5 frontal bossing 32 HP:0002007
6 clinodactyly 32 HP:0030084
7 hydrocephalus 32 HP:0000238
8 intellectual disability 32 HP:0001249
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 pyloric stenosis 32 HP:0002021
37 high pitched voice 32 HP:0001620
38 anteriorly placed anus 32 HP:0001545
39 cleft upper lip 32 HP:0000204
40 partial agenesis of the corpus callosum 32 HP:0001338
41 plagiocephaly 32 HP:0001357
42 sparse hair 32 HP:0008070
43 abnormality of the sternum 32 HP:0000766
44 motor delay 32 HP:0001270
45 wide anterior fontanel 32 HP:0000260
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

Drugs & Therapeutics for Opitz-Kaveggia Syndrome

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


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

Interventional clinical trials:


id Name Status NCT ID Phase
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:

id Genetic test Affiliating Genes
1 Fg Syndrome 29
2 Fg Syndrome Type 1 24 MED12

Anatomical Context for Opitz-Kaveggia Syndrome

MalaCards organs/tissues related to Opitz-Kaveggia Syndrome:

39
Heart, Skin

Publications for Opitz-Kaveggia Syndrome

Articles related to Opitz-Kaveggia Syndrome:

id Title Authors Year
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

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

66
id Symbol AA change Variation ID SNP ID
1 MED12 p.Arg961Trp VAR_033112 rs80338758

ClinVar genetic disease variations for Opitz-Kaveggia Syndrome:

6
id 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 GRCh37 Chromosome X, 70347209: 70347209
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
8 MED12 NM_005120.2(MED12): c.5922G> T (p.Gln1974His) single nucleotide variant Pathogenic rs879255528 GRCh37 Chromosome X, 70357671: 70357671

Copy number variations for Opitz-Kaveggia Syndrome from CNVD:

7
id 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

GO Terms for Opitz-Kaveggia Syndrome

Sources for Opitz-Kaveggia Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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