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 heart, skin 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 212.2
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:


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

UMLS symptoms related to Opitz-Kaveggia Syndrome:

seizures, constipation

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:

Heart, Skin, 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:

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)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