Intellectual developmental disorder, X-linked 1

Preferred Label : Intellectual developmental disorder, X-linked 1;

Symbol : XLID1;

CISMeF acronym : MRX; MRX1; MRX18; MRX78;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Mental retardation, X-linked 18; MRX78; MRX; Mental retardation, X-linked 78; MRX18; MRX1; Mental retardation, X-linked 1;

Description : 2402A-C transversion in exon 6 of the IQSEC2 gene, resulting in a gln801-to-pro (Q801P) substitution affecting a conserved residue in the Sec7 domain. The mutation was not found in 1,310 control individuals. In vitro functional expression studies showed that the mutant protein had significantly decreased GTP binding to ARF6 (600464) compared to wildtype. .0003; Impaired mental functioning occurs as an isolated feature or as part of many syndromes listed in the X-linked catalog. Mental retardation that is not associated with other distinguishing features is referred to as 'nonspecific.' - Classification Opitz and Sutherland (1984) reported on a conference in which fragile X mental retardation and X-linked mental retardation of numerous other types were discussed. The report contains a rather comprehensive discussion by Opitz of the nosology of X-linked mental retardation. Mulley et al. (1992) reviewed nomenclature guidelines for X-linked mental retardation. Raymond (2006) reviewed the diagnosis and classification of X-linked mental retardation and discussed the phenotypes associated with genes causing syndromic and nonsyndromic mental retardation.;

Inheritance : X-linked dominant;

Molecular basis : Caused by mutation in the IQ motif- and Sec7 domain-containing protein 2 (IQSEC2, 300522.0001);

Prefixed ID : #309530;

Details

Origin ID

309530;

UMLS CUI

C2931498;

Automatic exact mappings (from CISMeF team)
- ABCG2 wt Allele [NCIt concept]
- mental retardation, X-Linked 78 [MeSH concept]
- mental retardation, X-Linked 78 [MeSH Supplementary Concept]
- microradiography [CISMeF resources Type]
- non-syndromic X-linked intellectual disability 1 [DO Concept]
- symbol withdrawn MRX1 [HGNC gene]
Currated CISMeF NLP mapping
- Mental Retardation, X-linked 1 [NCIt concept]
- X-linked non-syndromic intellectual disability [ORDO Disease]
- mental retardation, X-Linked 1 [MeSH concept]
- mental retardation, X-Linked 1 [MeSH Supplementary Concept]
DO Cross reference
- non-syndromic X-linked intellectual disability 1 [DO Concept]
Genes related to phenotype
- Iq motif- and sec7 domain-containing protein 2 [OMIM gene]
HPO term(s)
- Aggressive behavior [HPO term]
- Atonic seizure [HPO term]
- Autistic behavior [HPO term]
- Bilateral tonic-clonic seizure [HPO term]
- Brachycephaly [HPO term]
- Delayed speech and language development [HPO term]
- Developmental regression [HPO term]
- Generalized hypotonia [HPO term]
- Hypermetropia [HPO term]
- Infantile onset [HPO term]
- Intellectual disability [HPO term]
- No social interaction [HPO term]
- Poor speech [HPO term]
- Secondary microcephaly [HPO term]
- Seizure [HPO term]
- Strabismus [HPO term]
- X-linked dominant inheritance [HPO term]
- X-linked recessive inheritance [HPO term]
ORDO concept(s)
- X-linked non-syndromic intellectual disability [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Mental Retardation, X-linked 1 [NCIt concept]
- Severe intellectual disability, progressive postnatal microcephaly, midline stereotypic hand movements syndrome (disorder) [SNOMED CT concept]
- X-linked non-syndromic intellectual disability [ORDO Disease]
- mental retardation, X-Linked 1 [MeSH Supplementary Concept]
- mental retardation, X-Linked 1 [MeSH concept]

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