MCID: OPT054
MIFTS: 30

Opitz-Kaveggia Syndrome malady

Genetic diseases (common) category

Aliases & Classifications for Opitz-Kaveggia Syndrome

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Aliases & Descriptions for Opitz-Kaveggia Syndrome:

Name: Opitz-Kaveggia Syndrome 49 11 22 67
Fg Syndrome Type 1 22 67
Fgs1 22 67
 
Fg Syndrome 67
Fgs 67
Oks 67


Classifications:



External Ids:

OMIM49 305450
MedGen34 C0220769

Summaries for Opitz-Kaveggia Syndrome

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OMIM:49 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 focal segmental glomerulosclerosis and fg syndrome 4, and has symptoms including inguinal hernia, cryptorchidism and hypospadias. An important gene associated with Opitz-Kaveggia Syndrome is MED12 (Mediator Complex Subunit 12). Affiliated tissues include skin.

UniProtKB/Swiss-Prot:67 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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Graphical network of the top 20 diseases related to Opitz-Kaveggia Syndrome:



Diseases related to opitz-kaveggia syndrome

Symptoms for Opitz-Kaveggia Syndrome

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Symptoms by clinical synopsis from OMIM:

305450

Clinical features from OMIM:

305450

HPO human phenotypes related to Opitz-Kaveggia Syndrome:

(show all 67)
id Description Frequency HPO Source Accession
1 inguinal hernia HP:0000023
2 cryptorchidism HP:0000028
3 hypospadias HP:0000047
4 wide mouth HP:0000154
5 cleft palate HP:0000175
6 thick lower lip vermilion HP:0000179
7 narrow palate HP:0000189
8 cleft upper lip HP:0000204
9 hydrocephalus HP:0000238
10 wide anterior fontanel HP:0000260
11 epicanthus HP:0000286
12 hypertelorism HP:0000316
13 long philtrum HP:0000343
14 micrognathia HP:0000347
15 sensorineural hearing impairment HP:0000407
16 prominent nose HP:0000448
17 choanal atresia HP:0000453
18 short neck HP:0000470
19 strabismus HP:0000486
20 downslanted palpebral fissures HP:0000494
21 dental crowding HP:0000678
22 abnormality of the sternum HP:0000766
23 single transverse palmar crease HP:0000954
24 sacral dimple HP:0000960
25 syndactyly HP:0001159
26 split hand HP:0001171
27 prominent fingertip pads HP:0001212
28 intellectual disability HP:0001249
29 seizures HP:0001250
30 global developmental delay HP:0001263
31 motor delay HP:0001270
32 neonatal hypotonia HP:0001319
33 partial agenesis of the corpus callosum HP:0001338
34 plagiocephaly HP:0001357
35 x-linked recessive inheritance HP:0001419
36 delayed closure of the anterior fontanelle HP:0001476
37 umbilical hernia HP:0001537
38 anteriorly placed anus HP:0001545
39 high pitched voice HP:0001620
40 abnormality of cardiac morphology HP:0001627
41 abnormality of the nasopharynx HP:0001739
42 frontal bossing HP:0002007
43 constipation HP:0002019
44 pyloric stenosis HP:0002021
45 anal atresia HP:0002023
46 anal stenosis HP:0002025
47 fine hair HP:0002213
48 frontal upsweep of hair HP:0002236
49 heterotopia HP:0002282
50 intestinal malrotation HP:0002566
51 multiple joint contractures HP:0002828
52 lumbar hyperlordosis HP:0002938
53 short stature HP:0004322
54 postnatal macrocephaly HP:0005490
55 joint swelling onset late infancy HP:0005833
56 attention deficit hyperactivity disorder HP:0007018
57 sparse hair HP:0008070
58 radial deviation of finger HP:0009466
59 joint contracture of the hand HP:0009473
60 facial wrinkling HP:0009762
61 broad hallux HP:0010055
62 skin tags HP:0010609
63 prominent forehead HP:0011220
64 microtia, first degree HP:0011266
65 broad thumb HP:0011304
66 camptodactyly HP:0012385
67 clinodactyly HP:0030084

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
1AstragalusNutraceutical43

Interventional clinical trials:

idNameStatusNCT IDPhase
1Genetic Disease Gene IdentificationEnrolling by invitationNCT00916903

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 Syndrome Type 122 MED12

Anatomical Context for Opitz-Kaveggia Syndrome

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MalaCards organs/tissues related to Opitz-Kaveggia Syndrome:

33
Skin

Animal Models for Opitz-Kaveggia Syndrome or affiliated genes

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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:

67
id Symbol AA change Variation ID SNP ID
1MED12p.Arg961TrpVAR_033112

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)single nucleotide variantPathogenicrs80338758GRCh37Chr X, 70347217: 70347217
2MED12NM_005120.2(MED12): c.1849A> G (p.Thr617Ala)single nucleotide variantLikely pathogenicrs765417606GRCh37Chr X, 70344113: 70344113
3MED12NM_005120.2(MED12): c.2873G> A (p.Gly958Glu)single nucleotide variantPathogenicrs397515554GRCh37Chr X, 70347209: 70347209

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
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet