MCID: OPT054
MIFTS: 35

Opitz-Kaveggia Syndrome

Categories: Genetic diseases, Neuronal diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Opitz-Kaveggia Syndrome

MalaCards integrated aliases for Opitz-Kaveggia Syndrome:

Name: Opitz-Kaveggia Syndrome 54 24 56 71 13
Fg Syndrome Type 1 24 56 71
Fg Syndrome 71 29 69
Fgs1 24 71
Fgs 71
Oks 71

Characteristics:

OMIM:

54
Inheritance:
x-linked recessive


HPO:

32
opitz-kaveggia syndrome:
Inheritance x-linked recessive inheritance


Classifications:



Summaries for Opitz-Kaveggia Syndrome

OMIM : 54
Opitz-Kaveggia syndrome (OKS) is an X-linked recessive mental retardation syndrome characterized by dysmorphic features, including relative macrocephaly, hypertelorism, downslanted palpebral fissures, prominent forehead with frontal hair upsweep, and broad thumbs and halluces. Most have hypotonia, constipation, and partial agenesis of the corpus callosum. Some patients have sensorineural hearing loss and joint laxity evolving into joint contractures. Affected individuals tend to be hyperactive and talkative (summary by Graham et al., 1999). In their original family, Opitz and Kaveggia (1974) named the disorder 'FG syndrome' according to the Opitz system of using initials of patients' surnames. (305450)

MalaCards based summary : Opitz-Kaveggia Syndrome, also known as fg syndrome type 1, is related to fg syndrome 2 and fg syndrome 4, and has symptoms including short stature, strabismus and wide mouth. An important gene associated with Opitz-Kaveggia Syndrome is MED12 (Mediator Complex Subunit 12). The drugs Neuroserpin and Astragalus have been mentioned in the context of this disorder. Affiliated tissues include skin and heart.

UniProtKB/Swiss-Prot : 71 Opitz-Kaveggia syndrome: X-linked disorder characterized by mental retardation, relative macrocephaly, hypotonia and constipation.

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.

Related Diseases for Opitz-Kaveggia Syndrome

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

id Related Disease Score Top Affiliating Genes
1 fg syndrome 2 12.2
2 fg syndrome 4 12.2
3 fg syndrome 3 11.9
4 fg syndrome 5 11.9
5 focal segmental glomerulosclerosis 11.4
6 lujan-fryns syndrome 11.2
7 syndromic x-linked intellectual disability 14 11.1

Graphical network of the top 20 diseases related to Opitz-Kaveggia Syndrome:



Diseases related to Opitz-Kaveggia Syndrome

Symptoms & Phenotypes for Opitz-Kaveggia Syndrome

Symptoms via clinical synopsis from OMIM:

54

Growth- Height:
short stature

Head And Neck- Mouth:
large mouth
cleft palate
narrow palate
cleft lip
prominent lower lip

Head And Neck- Eyes:
strabismus
epicanthal folds
hypertelorism
downward slanting palpebral fissures
medial eyebrow flare

Skeletal- Hands:
broad thumbs
camptodactyly
clinodactyly
syndactyly
single transverse palmar crease
more
Skeletal- Spine:
lumbar hyperlordosis

Respiratory- Nasopharynx:
choanal atresia

Genitourinary- Internal Genitalia Male:
cryptorchidism
inguinal hernia

Head And Neck- Head:
macrocephaly
plagiocephaly
large anterior fontanel

Head And Neck- Ears:
sensorineural hearing loss
small ears

Head And Neck- Nose:
prominent nose

Voice:
high-pitched voice

Skin Nails & Hair- Skin:
sacral dimple
single transverse palmar crease
persistent fetal fingertip pads
facial wrinkling
perianal skin tags

Skeletal- Limbs:
joint contractures
joint hyperlaxity (infancy)

Neurologic- Central Nervous System:
mental retardation
seizures
hydrocephalus
global developmental delay
neonatal hypotonia
more
Abdomen- External Features:
umbilical hernia

Head And Neck- Face:
micrognathia
prominent forehead
long philtrum
frontal hair upsweep

Skin Nails & Hair- Hair:
sparse hair
fine hair
frontal hair upsweep

Genitourinary- External Genitalia Male:
hypospadias

Head And Neck- Neck:
short neck

Neurologic- Behavioral Psychiatric Manifestations:
hyperactivity
attention deficit disorder
friendly, sociable personality

Abdomen- Gastroin testinal:
constipation
imperforate anus
anal stenosis
pyloric stenosis
anteriorly placed anus
more
Skeletal- Feet:
broad halluces

Head And Neck- Teeth:
dental crowding

Skeletal- Skull:
delayed closure of anterior fontanel


Clinical features from OMIM:

305450

Human phenotypes related to Opitz-Kaveggia Syndrome:

32 (show top 50) (show all 65)
id Description HPO Frequency HPO Source Accession
1 short stature 32 HP:0004322
2 strabismus 32 HP:0000486
3 wide mouth 32 HP:0000154
4 umbilical hernia 32 HP:0001537
5 seizures 32 HP:0001250
6 hydrocephalus 32 HP:0000238
7 micrognathia 32 HP:0000347
8 prominent forehead 32 HP:0011220
9 hypertelorism 32 HP:0000316
10 lumbar hyperlordosis 32 HP:0002938
11 sparse hair 32 HP:0008070
12 choanal atresia 32 HP:0000453
13 cleft palate 32 HP:0000175
14 hypospadias 32 HP:0000047
15 frontal bossing 32 HP:0002007
16 global developmental delay 32 HP:0001263
17 narrow palate 32 HP:0000189
18 neonatal hypotonia 32 HP:0001319
19 cryptorchidism 32 HP:0000028
20 camptodactyly 32 HP:0012385
21 short neck 32 HP:0000470
22 inguinal hernia 32 HP:0000023
23 intellectual disability 32 HP:0001249
24 long philtrum 32 HP:0000343
25 clinodactyly 32 HP:0030084
26 motor delay 32 HP:0001270
27 partial agenesis of the corpus callosum 32 HP:0001338
28 constipation 32 HP:0002019
29 prominent nose 32 HP:0000448
30 syndactyly 32 HP:0001159
31 broad hallux 32 HP:0010055
32 plagiocephaly 32 HP:0001357
33 wide anterior fontanel 32 HP:0000260
34 downslanted palpebral fissures 32 HP:0000494
35 intestinal malrotation 32 HP:0002566
36 epicanthus 32 HP:0000286
37 fine hair 32 HP:0002213
38 sensorineural hearing impairment 32 HP:0000407
39 high pitched voice 32 HP:0001620
40 dental crowding 32 HP:0000678
41 sacral dimple 32 HP:0000960
42 anal stenosis 32 HP:0002025
43 pyloric stenosis 32 HP:0002021
44 single transverse palmar crease 32 HP:0000954
45 anal atresia 32 HP:0002023
46 thick lower lip vermilion 32 HP:0000179
47 split hand 32 HP:0001171
48 prominent fingertip pads 32 HP:0001212
49 broad thumb 32 HP:0011304
50 anteriorly placed anus 32 HP:0001545

UMLS symptoms related to Opitz-Kaveggia Syndrome:


constipation, seizures

Drugs & Therapeutics for Opitz-Kaveggia Syndrome

Drugs for Opitz-Kaveggia Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


id Name Status Phase Clinical Trials Cas Number PubChem Id
1 Neuroserpin
2 Astragalus Nutraceutical

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Genetic Disease Gene Identification Unknown status NCT00916903

Search NIH Clinical Center for Opitz-Kaveggia Syndrome

Genetic Tests for Opitz-Kaveggia Syndrome

Genetic tests related to Opitz-Kaveggia Syndrome:

id Genetic test Affiliating Genes
1 Fg Syndrome 29
2 Fg Syndrome Type 1 24 MED12

Anatomical Context for Opitz-Kaveggia Syndrome

MalaCards organs/tissues related to Opitz-Kaveggia Syndrome:

39
Skin, Heart

Publications for Opitz-Kaveggia Syndrome

Articles related to Opitz-Kaveggia Syndrome:

id Title Authors Year
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

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

71
id Symbol AA change Variation ID SNP ID
1 MED12 p.Arg961Trp VAR_033112 rs80338758

ClinVar genetic disease variations for Opitz-Kaveggia Syndrome:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 MED12 NM_005120.2(MED12): c.2881C> T (p.Arg961Trp) single nucleotide variant Pathogenic rs80338758 GRCh37 Chromosome X, 70347217: 70347217
2 MED12 NM_005120.2(MED12): c.2873G> A (p.Gly958Glu) single nucleotide variant Pathogenic rs397515554 GRCh37 Chromosome X, 70347209: 70347209
3 MED12 NM_005120.2(MED12): c.4147G> A (p.Ala1383Thr) single nucleotide variant Pathogenic rs863223696 GRCh37 Chromosome X, 70351950: 70351950
4 MED12 NM_005120.2(MED12): c.1862G> A (p.Arg621Gln) single nucleotide variant Likely pathogenic rs1057519381 GRCh38 Chromosome X, 71124276: 71124276
5 MED12 NM_005120.2(MED12): c.2444G> A (p.Arg815Gln) single nucleotide variant Pathogenic rs762905361 GRCh38 Chromosome X, 71126057: 71126057
6 MED12 NM_005120.2(MED12): c.3067A> G (p.Ile1023Val) single nucleotide variant Pathogenic rs879255526 GRCh37 Chromosome X, 70347828: 70347828
7 MED12 NM_005120.2(MED12): c.5898dupC (p.Ser1967GlnfsTer84) duplication Pathogenic rs879255527 GRCh37 Chromosome X, 70357647: 70357647
8 MED12 NM_005120.2(MED12): c.5922G> T (p.Gln1974His) single nucleotide variant Pathogenic rs879255528 GRCh37 Chromosome X, 70357671: 70357671

Copy number variations for Opitz-Kaveggia Syndrome from CNVD:

7
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 264548 X 67700000 76000000 Copy number Opitz-Kaveggia syndrome

Expression for Opitz-Kaveggia Syndrome

Search GEO for disease gene expression data for Opitz-Kaveggia Syndrome.

Pathways for Opitz-Kaveggia Syndrome

GO Terms for Opitz-Kaveggia Syndrome

Sources for Opitz-Kaveggia Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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