Fg syndrome 4 - CISMeF

Preferred Label : Fg syndrome 4;

Symbol : FGS4;

CISMeF acronym : FGS4;

Type : Phenotype, molecular basis known;

Included titles and symbols : Mental retardation, X-linked, with or without nystagmus; Intellectual developmental disorder, X-linked, with or without nystagmus;

Description : FG syndrome-4 is an X-linked recessive mental retardation syndrome characterized by congenital hypotonia, constipation, behavioral disturbances, and dysmorphic features (summary by Piluso et al., 2003). The name 'FG' derives from the first description of the disorder (FGS1; 305450) by Opitz and Kaveggia (1974), who named it 'FG syndrome' according to the Opitz system of using initials of patients' surnames. For a phenotypic description and a discussion of genetic heterogeneity of FG syndrome, see FGS1 (305450). FGS4 is typically associated with missense or hypomorphic mutations in the CASK gene. See also the more severe disorder MICPCH (300749), an allelic disorder caused by complete loss-of-function mutations in the;

Prefixed ID : #300422;

Details

Origin ID

300422;

UMLS CUI

C1845546;

Automatic exact mappings (from CISMeF team)
- Opitz-Kaveggia syndrome [MeSH Supplementary Concept]
- calcium/calmodulin dependent serine protein kinase [ORDO Gene]
- calcium/calmodulin dependent serine protein kinase [HGNC gene]
Broader ORDO disease(s)
- FG syndrome [ORDO Disease]
Currated CISMeF NLP mapping
- FG syndrome 4 [MeSH concept]
DO Cross reference
- FG syndrome [DO Concept]
Genes related to phenotype
- Calcium/calmodulin-dependent serine protein kinase [OMIM gene]
HPO term(s)
- Feeding difficulties in infancy [HPO term]
- Global developmental delay [HPO term]
- Hypertelorism [HPO term]
- Intellectual disability [HPO term]
- Neonatal hypotonia [HPO term]
- Prominent forehead [HPO term]
- Scoliosis [HPO term]
- Seizure [HPO term]
- Sensorineural hearing impairment [HPO term]
- Wide nasal bridge [HPO term]
- X-linked inheritance [HPO term]
ORDO concept(s)
- FG syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- FG syndrome 4 [MeSH concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients