Intellectual developmental disorder, autosomal dominant 5

Preferred Label : Intellectual developmental disorder, autosomal dominant 5;

Symbol : MRD5;

CISMeF acronym : MRD5;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Mental retardation, autosomal dominant 5;

Description : MRD5 is characterized by moderate to severe intellectual disability with delayed psychomotor development apparent in the first years of life. Some patients develop variable types of seizures, some have autism or autism spectrum disorder (see 209850), and some have acquired microcephaly (summary by Berryer et al., 2013).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the synaptic Ras GTPase activating protein 1 gene (SYNGAP1, 603384.0001);

Prefixed ID : #612621;

Details

Origin ID

612621;

UMLS CUI

C2675473;

Automatic exact mappings (from CISMeF team)
- Autosomal dominant non-syndromic intellectual disability [ORDO Disease]
Broader ORDO disease(s)
- Autosomal dominant non-syndromic intellectual disability [ORDO Disease]
Currated CISMeF NLP mapping
- Mental Retardation, Autosomal Dominant 5 [NCIt concept]
- autosomal dominant non-syndromic intellectual disability 5 [DO Concept]
- mental retardation autosomal dominant 5 [Disease (Nov.)]
- mental retardation, autosomal dominant 5 [MeSH concept]
- mental retardation, autosomal dominant 5 [MeSH Supplementary Concept]
DO Cross reference
- autosomal dominant non-syndromic intellectual disability 5 [DO Concept]
Genes related to phenotype
- Synaptic ras-gtpase-activating protein 1 [OMIM gene]
HPO term(s)
- Autistic behavior [HPO term]
- Autosomal dominant inheritance [HPO term]
- Developmental regression [HPO term]
- EEG abnormality [HPO term]
- Epileptic encephalopathy [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Hypotonia [HPO term]
- Intellectual disability [HPO term]
- Language impairment [HPO term]
- Microcephaly [HPO term]
- Motor delay [HPO term]
- Seizure [HPO term]
- Torticollis [HPO term]
ORDO concept(s)
- Autosomal dominant non-syndromic intellectual disability [ORDO Disease]
Semantic type(s)
- Mental or Behavioral Dysfunction [UMLS semantic type]
UMLS correspondences (same concept)
- Mental Retardation, Autosomal Dominant 5 [NCIt concept]
- mental retardation autosomal dominant 5 [Disease (Nov.)]
- mental retardation, autosomal dominant 5 [MeSH Supplementary Concept]
- mental retardation, autosomal dominant 5 [MeSH concept]

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