MCID: OPT054
MIFTS: 20

Opitz-Kaveggia Syndrome malady

Genetic diseases, Rare diseases categories

Aliases & Classifications for Opitz-Kaveggia Syndrome

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Opitz-Kaveggia Syndrome, Aliases & Descriptions:

Name: Opitz-Kaveggia Syndrome 45 10 47
 
Fg Syndrome Type 1 20 47


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases


External Ids:

OMIM45 305450
Orphanet47 93932

Summaries for Opitz-Kaveggia Syndrome

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OMIM:45 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 has symptoms including frontal bossing, frontal upsweep of hair and motor delay. An important gene associated with Opitz-Kaveggia Syndrome is MED12 (mediator complex subunit 12). Affiliated tissues include skin.

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
1focal segmental glomerulosclerosis10.6

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 68)
id Description Frequency HPO Source Accession
1 frontal bossing 95% HP:0002007
2 frontal upsweep of hair 91% HP:0002236
3 motor delay hallmark (90%) HP:0001270
4 downslanted palpebral fissures 85% HP:0000494
5 hypertelorism 83% HP:0000316
6 joint swelling onset late infancy 81% HP:0005833
7 wide anterior fontanel 77% HP:0000260
8 postnatal macrocephaly 74% HP:0005490
9 seizures 70% HP:0001250
10 attention deficit hyperactivity disorder 70% HP:0007018
11 abnormality of the sternum 69% HP:0000766
12 constipation 69% HP:0002019
13 microtia, first degree 66% HP:0011266
14 single transverse palmar crease 60% HP:0000954
15 epicanthus 56% HP:0000286
16 joint contracture of the hand 55% HP:0009473
17 syndactyly 54% HP:0001159
18 radial deviation of finger 53% HP:0009466
19 strabismus 52% HP:0000486
20 prominent fingertip pads typical (50%) HP:0001212
21 thick lower lip vermilion 44% HP:0000179
22 choroidal sclerosis 38% HP:0001150
23 anteriorly placed anus 38% HP:0001545
24 anal stenosis 38% HP:0002025
25 cryptorchidism 36% HP:0000028
26 narrow palate 25% HP:0000189
27 sacral dimple 25% HP:0000960
28 partial agenesis of the corpus callosum 25% HP:0001338
29 fine hair 25% HP:0002213
30 multiple joint contractures 25% HP:0002828
31 short stature 25% HP:0004322
32 sparse hair 25% HP:0008070
33 facial wrinkling 25% HP:0009762
34 hypospadias occasional (7.5%) HP:0000047
35 cleft palate occasional (7.5%) HP:0000175
36 sensorineural hearing impairment occasional (7.5%) HP:0000407
37 choanal atresia occasional (7.5%) HP:0000453
38 short neck occasional (7.5%) HP:0000470
39 split hand occasional (7.5%) HP:0001171
40 high pitched voice occasional (7.5%) HP:0001620
41 abnormality of cardiac morphology occasional (7.5%) HP:0001627
42 pyloric stenosis occasional (7.5%) HP:0002021
43 intestinal malrotation occasional (7.5%) HP:0002566
44 inguinal hernia HP:0000023
45 wide mouth HP:0000154
46 cleft upper lip HP:0000204
47 hydrocephalus HP:0000238
48 long philtrum HP:0000343
49 micrognathia HP:0000347
50 prominent nose HP:0000448
51 dental crowding HP:0000678
52 intellectual disability HP:0001249
53 global developmental delay HP:0001263
54 neonatal hypotonia HP:0001319
55 plagiocephaly HP:0001357
56 x-linked recessive inheritance HP:0001419
57 delayed closure of the anterior fontanelle HP:0001476
58 umbilical hernia HP:0001537
59 abnormality of the nasopharynx HP:0001739
60 anal atresia HP:0002023
61 heterotopia HP:0002282
62 lumbar hyperlordosis HP:0002938
63 broad hallux HP:0010055
64 skin tags HP:0010609
65 prominent forehead HP:0011220
66 broad thumb HP:0011304
67 camptodactyly HP:0012385
68 clinodactyly HP:0030084

Drugs & Therapeutics for Opitz-Kaveggia Syndrome

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Drug clinical trials:

Search ClinicalTrials for Opitz-Kaveggia Syndrome

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 120 MED12

Anatomical Context for Opitz-Kaveggia Syndrome

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MalaCards organs/tissues related to Opitz-Kaveggia Syndrome:

31
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:

62
id Symbol AA change Variation ID SNP ID
1MED12p.Arg961TrpVAR_033112

Clinvar genetic disease variations for Opitz-Kaveggia Syndrome:

6
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.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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Compounds for genes affiliated with Opitz-Kaveggia Syndrome

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GO Terms for genes affiliated with Opitz-Kaveggia Syndrome

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Products for genes affiliated with Opitz-Kaveggia Syndrome

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Opitz-Kaveggia Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet