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 49 11 22 67
Fg Syndrome 67 24 65
Fg Syndrome Type 1 22 67
Fgs1 22 67
Fgs 67
Oks 67



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


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, 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, heart and endothelial.

Disease Ontology:10 An X-linked disease characterized by retardation, hyperactivity, hypotonia, broad thumbs, big first toes and a characteristic facial appearance including macrocephaly and has an X-linked recessive inheritance pattern.

Genetics Home Reference:23 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: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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Diseases related to Opitz-Kaveggia Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1fg syndrome 212.6
2fg syndrome 412.6
3fg syndrome 312.4
4fg syndrome 512.4
5focal segmental glomerulosclerosis12.0
6lujan-fryns syndrome10.7
7ischemic heart disease10.5
8heart disease10.5

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:


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 clinodactyly HP:0030084
28 camptodactyly HP:0012385
29 broad thumb HP:0011304
30 microtia, first degree HP:0011266
31 prominent forehead HP:0011220
32 skin tags HP:0010609
33 broad hallux HP:0010055
34 facial wrinkling HP:0009762
35 joint contracture of the hand HP:0009473
36 radial deviation of finger HP:0009466
37 sparse hair HP:0008070
38 attention deficit hyperactivity disorder HP:0007018
39 joint swelling onset late infancy HP:0005833
40 postnatal macrocephaly HP:0005490
41 short stature HP:0004322
42 lumbar hyperlordosis HP:0002938
43 multiple joint contractures HP:0002828
44 intestinal malrotation HP:0002566
45 heterotopia HP:0002282
46 frontal upsweep of hair HP:0002236
47 fine hair HP:0002213
48 anal stenosis HP:0002025
49 anal atresia HP:0002023
50 pyloric stenosis HP:0002021
51 constipation HP:0002019
52 frontal bossing HP:0002007
53 abnormality of the nasopharynx HP:0001739
54 abnormal heart morphology HP:0001627
55 high pitched voice HP:0001620
56 anteriorly placed anus HP:0001545
57 umbilical hernia HP:0001537
58 delayed closure of the anterior fontanelle HP:0001476
59 plagiocephaly HP:0001357
60 partial agenesis of the corpus callosum HP:0001338
61 neonatal hypotonia HP:0001319
62 motor delay HP:0001270
63 global developmental delay HP:0001263
64 seizures HP:0001250
65 intellectual disability HP:0001249
66 prominent fingertip pads HP:0001212
67 split hand HP:0001171
68 syndactyly HP:0001159
69 sacral dimple HP:0000960
70 single transverse palmar crease HP:0000954
71 abnormality of the sternum HP:0000766
72 dental crowding HP:0000678
73 downslanted palpebral fissures HP:0000494
74 strabismus HP:0000486
75 short neck HP:0000470
76 choanal atresia HP:0000453
77 prominent nose HP:0000448
78 sensorineural hearing impairment HP:0000407
79 micrognathia HP:0000347
80 long philtrum HP:0000343
81 hypertelorism HP:0000316
82 epicanthus HP:0000286
83 wide anterior fontanel HP:0000260
84 hydrocephalus HP:0000238
85 cleft upper lip HP:0000204
86 narrow palate HP:0000189
87 thick lower lip vermilion HP:0000179
88 cleft palate HP:0000175
89 wide mouth HP:0000154
90 hypospadias HP:0000047
91 cryptorchidism HP:0000028
92 inguinal hernia HP:0000023

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 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:

Skin, Heart, Endothelial

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:

Regulation of Hh/Gli signaling by dual ubiquitin pathways. (17102630)
Selective inhibition of amino-terminal methionine processing by TNP-470 and ovalicin in endothelial cells. (10574784)
In vivo and in vitro studies on the residual allergenicity of partially hydrolysed infant formulae. (10342536)
Therapy in trichinosis with observations on the use of thiabendazole. (5370506)

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)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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28ICD10 via Orphanet
37MESH via Orphanet
50OMIM via Orphanet
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
66UMLS via Orphanet