MCID: OPT054
MIFTS: 29

Opitz-Kaveggia Syndrome malady

Category: Genetic diseases (common)

Aliases & Classifications for Opitz-Kaveggia Syndrome

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Aliases & Descriptions for Opitz-Kaveggia Syndrome:

Name: Opitz-Kaveggia Syndrome 50 23 68 12
Fg Syndrome 68 25 66
Fg Syndrome Type 1 23 68
 
Fgs1 23 68
Fgs 68
Oks 68

Characteristics:

HPO:

62
opitz-kaveggia syndrome:
Inheritance: x-linked recessive inheritance


Classifications:



External Ids:

OMIM50 305450
SNOMED-CT60 49984004
MedGen35 C0220769

Summaries for Opitz-Kaveggia Syndrome

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OMIM:50 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, is related to fg syndrome 2 and fg syndrome 4, and has symptoms including broad forehead, high forehead and low-set, posteriorly rotated ears. An important gene associated with Opitz-Kaveggia Syndrome is MED12 (Mediator Complex Subunit 12). Affiliated tissues include skin and heart.

Genetics Home Reference:24 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:68 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 312.0
4fg syndrome 512.0
5focal segmental glomerulosclerosis11.6
6lujan-fryns syndrome10.3

Graphical network of 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 92)
id Description Frequency HPO Source Accession
1 broad forehead hallmark (90%) HP:0000337
2 high forehead hallmark (90%) HP:0000348
3 low-set, posteriorly rotated ears hallmark (90%) HP:0000368
4 downslanted palpebral fissures hallmark (90%) HP:0000494
5 behavioral abnormality hallmark (90%) HP:0000708
6 muscular hypotonia hallmark (90%) HP:0001252
7 aplasia/hypoplasia of the corpus callosum hallmark (90%) HP:0007370
8 cognitive impairment hallmark (90%) HP:0100543
9 cryptorchidism typical (50%) HP:0000028
10 abnormality of the palate typical (50%) HP:0000174
11 open mouth typical (50%) HP:0000194
12 epicanthus typical (50%) HP:0000286
13 mask-like facies typical (50%) HP:0000298
14 micrognathia typical (50%) HP:0000347
15 strabismus typical (50%) HP:0000486
16 brachydactyly syndrome typical (50%) HP:0001156
17 seizures typical (50%) HP:0001250
18 constipation typical (50%) HP:0002019
19 fine hair typical (50%) HP:0002213
20 eeg abnormality typical (50%) HP:0002353
21 clinodactyly of the 5th finger typical (50%) HP:0004209
22 ptosis occasional (7.5%) HP:0000508
23 single transverse palmar crease occasional (7.5%) HP:0000954
24 hypertonia occasional (7.5%) HP:0001276
25 abnormality of the intestine occasional (7.5%) HP:0002242
26 hernia of the abdominal wall occasional (7.5%) HP:0004299
27 inguinal hernia HP:0000023
28 cryptorchidism HP:0000028
29 hypospadias HP:0000047
30 wide mouth HP:0000154
31 cleft palate HP:0000175
32 thick lower lip vermilion HP:0000179
33 narrow palate HP:0000189
34 cleft upper lip HP:0000204
35 hydrocephalus HP:0000238
36 wide anterior fontanel HP:0000260
37 epicanthus HP:0000286
38 hypertelorism HP:0000316
39 long philtrum HP:0000343
40 micrognathia HP:0000347
41 sensorineural hearing impairment HP:0000407
42 prominent nose HP:0000448
43 choanal atresia HP:0000453
44 short neck HP:0000470
45 strabismus HP:0000486
46 downslanted palpebral fissures HP:0000494
47 dental crowding HP:0000678
48 abnormality of the sternum HP:0000766
49 single transverse palmar crease HP:0000954
50 sacral dimple HP:0000960
51 syndactyly HP:0001159
52 split hand HP:0001171
53 prominent fingertip pads HP:0001212
54 intellectual disability HP:0001249
55 seizures HP:0001250
56 global developmental delay HP:0001263
57 motor delay HP:0001270
58 neonatal hypotonia HP:0001319
59 partial agenesis of the corpus callosum HP:0001338
60 plagiocephaly HP:0001357
61 delayed closure of the anterior fontanelle HP:0001476
62 umbilical hernia HP:0001537
63 anteriorly placed anus HP:0001545
64 high pitched voice HP:0001620
65 abnormal heart morphology HP:0001627
66 abnormality of the nasopharynx HP:0001739
67 frontal bossing HP:0002007
68 constipation HP:0002019
69 pyloric stenosis HP:0002021
70 anal atresia HP:0002023
71 anal stenosis HP:0002025
72 fine hair HP:0002213
73 frontal upsweep of hair HP:0002236
74 heterotopia HP:0002282
75 intestinal malrotation HP:0002566
76 multiple joint contractures HP:0002828
77 lumbar hyperlordosis HP:0002938
78 short stature HP:0004322
79 postnatal macrocephaly HP:0005490
80 joint swelling onset late infancy HP:0005833
81 attention deficit hyperactivity disorder HP:0007018
82 sparse hair HP:0008070
83 radial deviation of finger HP:0009466
84 joint contracture of the hand HP:0009473
85 facial wrinkling HP:0009762
86 broad hallux HP:0010055
87 skin tags HP:0010609
88 prominent forehead HP:0011220
89 microtia, first degree HP:0011266
90 broad thumb HP:0011304
91 camptodactyly HP:0012385
92 clinodactyly HP:0030084

UMLS symptoms related to Opitz-Kaveggia Syndrome:


constipation, seizures

Drugs & Therapeutics for Opitz-Kaveggia Syndrome

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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 Syndrome25
2 Fg Syndrome Type 123 MED12

Anatomical Context for Opitz-Kaveggia Syndrome

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MalaCards organs/tissues related to Opitz-Kaveggia Syndrome:

34
Skin, Heart

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:

68
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)single nucleotide variantPathogenicrs80338758GRCh37Chr X, 70347217: 70347217
2MED12NM_005120.2(MED12): c.4147G> A (p.Ala1383Thr)single nucleotide variantLikely pathogenic, Pathogenicrs863223696GRCh37Chr X, 70351950: 70351950
3MED12NM_005120.2(MED12): c.1849A> G (p.Thr617Ala)single nucleotide variantLikely pathogenicrs765417606GRCh37Chr X, 70344113: 70344113
4MED12NM_005120.2(MED12): c.2444G> A (p.Arg815Gln)single nucleotide variantPathogenicrs762905361GRCh38Chr X, 71126057: 71126057
5MED12NM_005120.2(MED12): c.3067A> G (p.Ile1023Val)single nucleotide variantPathogenicrs879255526GRCh37Chr X, 70347828: 70347828
6MED12NM_005120.2(MED12): c.5898dupC (p.Ser1967GlnfsTer84)duplicationPathogenicrs879255527GRCh37Chr X, 70357647: 70357647
7MED12NM_005120.2(MED12): c.5922G> T (p.Gln1974His)single nucleotide variantPathogenicrs879255528GRCh37Chr X, 70357671: 70357671
8MED12NM_005120.2(MED12): c.2873G> A (p.Gly958Glu)single nucleotide variantPathogenicrs397515554GRCh37Chr X, 70347209: 70347209

Copy number variations for Opitz-Kaveggia Syndrome from CNVD:

6
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
126454806770000076000000Copy 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
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet