Opitz-Kaveggia Syndrome malady

Categories: Genetic diseases, Rare diseases

Aliases & Classifications for Opitz-Kaveggia Syndrome

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12diseasecard, 24GeneTests, 26GTR, 30ICD10 via Orphanet, 36MedGen, 39MESH via Orphanet, 51OMIM, 53Orphanet, 63The Human Phenotype Ontology, 67UMLS, 68UMLS via Orphanet, 69UniProtKB/Swiss-Prot
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Aliases & Descriptions for Opitz-Kaveggia Syndrome:

Name: Opitz-Kaveggia Syndrome 51 24 53 69 12
Fg Syndrome Type 1 24 53 69
Fg Syndrome 69 26 67
Fgs1 24 69
Fgs 69
Oks 69



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


External Ids:

OMIM51 305450
Orphanet53 ORPHA93932
ICD10 via Orphanet30 Q87.8
MESH via Orphanet39 C537923
UMLS via Orphanet68 C0220769
MedGen36 C0220769

Summaries for Opitz-Kaveggia Syndrome

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OMIM:51 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 4 and fg syndrome 2, 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 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.

NIH Rare Diseases:47 FG syndrome (FGS) 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 individuals diagnosed with the disorder. People with FG syndrome frequently have intellectual disability ranging from mild to severe, hypotonia, constipation and/or anal anomalies, a distinctive facial appearance, broad thumbs and great toes, a large head compared to body size (relative macrocephaly), and abnormalities of the corpus callosum. Medical problems including heart defects, seizures, undescended testicle, and an inguinal hernia have also been reported in some affected individuals. Researchers have identified five regions of the X chromosome that are linked to FG syndrome in affected families. Mutations in the MED12 gene appears to be the most common cause of this disorder, leading to FG syndrome 1. Other genes involved with FG syndrome include FLNA (FGS2), CASK (FGS4), UPF3B (FGS6), and  BRWD3 (FGS7). FGS is inherited in an X-linked recessive pattern. Individualized early intervention and educational services are important so that each child can reach their fullest potential.  Last updated: 3/16/2016

UniProtKB/Swiss-Prot:69 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 412.2
2fg syndrome 212.2
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 for Opitz-Kaveggia Syndrome

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Symptoms by clinical synopsis from OMIM:


Clinical features from OMIM:


Human phenotypes related to Opitz-Kaveggia Syndrome:

 63 (show all 83)
id Description HPO Frequency HPO Source Accession
1 broad forehead63 hallmark (90%) HP:0000337
2 high forehead63 hallmark (90%) HP:0000348
3 low-set, posteriorly rotated ears63 hallmark (90%) HP:0000368
4 downslanted palpebral fissures63 hallmark (90%) HP:0000494
5 behavioral abnormality63 hallmark (90%) HP:0000708
6 muscular hypotonia63 hallmark (90%) HP:0001252
7 aplasia/hypoplasia of the corpus callosum63 hallmark (90%) HP:0007370
8 cognitive impairment63 hallmark (90%) HP:0100543
9 cryptorchidism63 typical (50%) HP:0000028
10 abnormality of the palate63 typical (50%) HP:0000174
11 open mouth63 typical (50%) HP:0000194
12 epicanthus63 typical (50%) HP:0000286
13 mask-like facies63 typical (50%) HP:0000298
14 micrognathia63 typical (50%) HP:0000347
15 strabismus63 typical (50%) HP:0000486
16 brachydactyly syndrome63 typical (50%) HP:0001156
17 seizures63 typical (50%) HP:0001250
18 constipation63 typical (50%) HP:0002019
19 fine hair63 typical (50%) HP:0002213
20 eeg abnormality63 typical (50%) HP:0002353
21 clinodactyly of the 5th finger63 typical (50%) HP:0004209
22 ptosis63 occasional (7.5%) HP:0000508
23 single transverse palmar crease63 occasional (7.5%) HP:0000954
24 hypertonia63 occasional (7.5%) HP:0001276
25 abnormality of the intestine63 occasional (7.5%) HP:0002242
26 hernia of the abdominal wall63 occasional (7.5%) HP:0004299
27 inguinal hernia63 HP:0000023
28 hypospadias63 HP:0000047
29 wide mouth63 HP:0000154
30 cleft palate63 HP:0000175
31 thick lower lip vermilion63 HP:0000179
32 narrow palate63 HP:0000189
33 cleft upper lip63 HP:0000204
34 hydrocephalus63 HP:0000238
35 wide anterior fontanel63 HP:0000260
36 hypertelorism63 HP:0000316
37 long philtrum63 HP:0000343
38 sensorineural hearing impairment63 HP:0000407
39 prominent nose63 HP:0000448
40 choanal atresia63 HP:0000453
41 short neck63 HP:0000470
42 dental crowding63 HP:0000678
43 abnormality of the sternum63 HP:0000766
44 sacral dimple63 HP:0000960
45 syndactyly63 HP:0001159
46 split hand63 HP:0001171
47 prominent fingertip pads63 HP:0001212
48 intellectual disability63 HP:0001249
49 global developmental delay63 HP:0001263
50 motor delay63 HP:0001270
51 neonatal hypotonia63 HP:0001319
52 partial agenesis of the corpus callosum63 HP:0001338
53 plagiocephaly63 HP:0001357
54 delayed closure of the anterior fontanelle63 HP:0001476
55 umbilical hernia63 HP:0001537
56 anteriorly placed anus63 HP:0001545
57 high pitched voice63 HP:0001620
58 abnormal heart morphology63 HP:0001627
59 abnormality of the nasopharynx63 HP:0001739
60 frontal bossing63 HP:0002007
61 pyloric stenosis63 HP:0002021
62 anal atresia63 HP:0002023
63 anal stenosis63 HP:0002025
64 frontal upsweep of hair63 HP:0002236
65 heterotopia63 HP:0002282
66 intestinal malrotation63 HP:0002566
67 multiple joint contractures63 HP:0002828
68 lumbar hyperlordosis63 HP:0002938
69 short stature63 HP:0004322
70 postnatal macrocephaly63 HP:0005490
71 joint swelling onset late infancy63 HP:0005833
72 attention deficit hyperactivity disorder63 HP:0007018
73 sparse hair63 HP:0008070
74 radial deviation of finger63 HP:0009466
75 joint contracture of the hand63 HP:0009473
76 facial wrinkling63 HP:0009762
77 broad hallux63 HP:0010055
78 skin tags63 HP:0010609
79 prominent forehead63 HP:0011220
80 microtia, first degree63 HP:0011266
81 broad thumb63 HP:0011304
82 camptodactyly63 HP:0012385
83 clinodactyly63 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

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 Syndrome26
2 Fg Syndrome Type 124 MED12

Anatomical Context for Opitz-Kaveggia Syndrome

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MalaCards organs/tissues related to Opitz-Kaveggia Syndrome:

Heart, 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:

A novel mutation in MED12 causes FG syndrome (Opitz-Kaveggia syndrome). (20507344)
Behavioral features in young adults with FG syndrome (Opitz-Kaveggia syndrome). (20981778)
Behavior of 10 patients with FG syndrome (Opitz-Kaveggia syndrome) and the p.R961W mutation in the MED12 gene. (18973276)
A recurrent mutation in MED12 leading to R961W causes Opitz-Kaveggia syndrome. (17334363)

Variations for Opitz-Kaveggia Syndrome

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

id Symbol AA change Variation ID SNP ID

Clinvar genetic disease variations for Opitz-Kaveggia Syndrome:

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.1849A> G (p.Thr617Ala)SNVLikely pathogenicrs765417606GRCh37Chr X, 70344113: 70344113
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:

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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30ICD10 via Orphanet
39MESH via Orphanet
52OMIM via Orphanet
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
68UMLS via Orphanet