Opitz-kaveggia syndrome

Preferred Label : Opitz-kaveggia syndrome;

Symbol : OKS;

CISMeF acronym : FGS; FGS1; OKS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : FGS1; FGS; Fg syndrome 1; Fg syndrome; Mental retardation, large head, imperforate anus, congenital hypotonia, and partial agenesis of corpus callosum; Keller syndrome;

Description : 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. - Genetic Heterogeneity of FG Syndrome Other forms of 'FG syndrome' were characterized due to the similar clinical features observed by Opitz and Kaveggia (1974). FGS2 (300321) is caused by mutation in the FLNA gene (300017) on chromosome Xq28 and FGS4 (300422) is caused by mutation in the CASK gene (300172) on chromosome Xp11. FGS3 (300406) has been mapped to Xp22.3, and FGS5 (300581) to Xq22.3. Risheg et al. (2007) suggested that the designation Opitz-Kaveggia syndrome be reserved for those cases with mutation in the MED12 gene. In part this is justified by the fact that a MED12 mutation was found in the family originally reported by Opitz and Kaveggia (1974). See also Lujan-Fryns syndrome (309520), an allelic disorder with an overlapping phenotype.;

Inheritance : X-linked recessive;

Molecular basis : Caused by mutation in the homolog of S. cerevisiae mediator of RNA polymerase II transcription, subunit 12 gene (MED12, 300188.0001);

Prefixed ID : #305450;

Details

Origin ID

305450;

UMLS CUI

C0220769;

Automatic exact mappings (from CISMeF team)
- BSG wt Allele [NCIt concept]
- Femtogram [NCIt concept]
- MED12 wt Allele [NCIt concept]
- Oklahoma [NCIt concept]
- Transdermal Patch Dosing Unit [NCIt concept]
- femtogram (qualifier value) [SNOMED CT concept]
- focal segmental glomerulosclerosis [DO Concept]
- mediator complex subunit 12 [ORDO Gene]
- mediator complex subunit 12 [HGNC gene]
- symbol withdrawn FGS1 [HGNC gene]
Currated CISMeF NLP mapping
- FG Syndrome Type 1 [NCIt concept]
- FG syndrome [Disease (Nov.)]
- FG syndrome [DO Concept]
- FG syndrome [ICD-11 More detail]
- FG syndrome [ORDO Disease]
- FG syndrome (disorder) [SNOMED CT concept]
- FG syndrome type 1 [ORDO Disease]
- Opitz-Kaveggia syndrome [MeSH concept]
- Opitz-Kaveggia syndrome [MeSH Supplementary Concept]
- fg syndrome [SNOMED Notion]
DO Cross reference
- FG syndrome [DO Concept]
False automatic mappings
- French Guiana [NCIt concept]
Genes related to phenotype
- Mediator complex subunit 12 [OMIM gene]
HPO term(s)
- Abnormal heart morphology [HPO term]
- Abnormal nasopharynx morphology [HPO term]
- Abnormal sternum morphology [HPO term]
- Anal atresia [HPO term]
- Anal stenosis [HPO term]
- Anteriorly placed anus [HPO term]
- Attention deficit hyperactivity disorder [HPO term]
- Broad hallux [HPO term]
- Broad phalanges of the thumb [HPO term]
- Broad thumb [HPO term]
- Camptodactyly [HPO term]
- Choanal atresia [HPO term]
- Cleft palate [HPO term]
- Cleft upper lip [HPO term]
- Clinodactyly [HPO term]
- Constipation [HPO term]
- Cryptorchidism [HPO term]
- Delayed closure of the anterior fontanelle [HPO term]
- Dental crowding [HPO term]
- Downslanted palpebral fissures [HPO term]
- Epicanthus [HPO term]
- Facial wrinkling [HPO term]
- Fine hair [HPO term]
- Frontal bossing [HPO term]
- Frontal upsweep of hair [HPO term]
- Global developmental delay [HPO term]
- Gray matter heterotopia [HPO term]
- High pitched voice [HPO term]
- Hydrocephalus [HPO term]
- Hypertelorism [HPO term]
- Hypospadias [HPO term]
- Inguinal hernia [HPO term]
- Intellectual disability [HPO term]
- Intestinal malrotation [HPO term]
- Joint contracture of the hand [HPO term]
- Long philtrum [HPO term]
- Lumbar hyperlordosis [HPO term]
- Micrognathia [HPO term]
- Microtia, first degree [HPO term]
- Mild vertebral anomalies [HPO term]
- Motor delay [HPO term]
- Multiple joint contractures [HPO term]
- Narrow palate [HPO term]
- Neonatal hypotonia [HPO term]
- Partial agenesis of the corpus callosum [HPO term]
- Plagiocephaly [HPO term]
- Postnatal macrocephaly [HPO term]
- Prominent fingertip pads [HPO term]
- Prominent forehead [HPO term]
- Prominent nose [HPO term]
- Pyloric stenosis [HPO term]
- Radial deviation of finger [HPO term]
- Sacral dimple [HPO term]
- Seizure [HPO term]
- Sensorineural hearing impairment [HPO term]
- Short neck [HPO term]
- Short stature [HPO term]
- Single transverse palmar crease [HPO term]
- Skin tags [HPO term]
- Small, simple ears [HPO term]
- Sparse hair [HPO term]
- Split hand [HPO term]
- Strabismus [HPO term]
- Syndactyly [HPO term]
- Thick lower lip vermilion [HPO term]
- Umbilical hernia [HPO term]
- Wide anterior fontanel [HPO term]
- Wide mouth [HPO term]
- X-linked recessive inheritance [HPO term]
ORDO concept(s)
- FG syndrome [ORDO Disease]
- FG syndrome type 1 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- FG syndrome [ORDO Disease]
- FG syndrome [DO Concept]
- FG syndrome [Disease (Nov.)]
- FG syndrome (disorder) [SNOMED CT concept]
- FG syndrome type 1 [ORDO Disease]
- Opitz-Kaveggia syndrome [MeSH Supplementary Concept]
- Opitz-Kaveggia syndrome [MeSH concept]
- fg syndrome [SNOMED Notion]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients