Polymicrogyria, bilateral perisylvian, X-linked

Preferred Label : Polymicrogyria, bilateral perisylvian, X-linked;

Symbol : BPPX;

CISMeF acronym : BPP; BPPX; CBPS; PMGX;

Type : Phenotype or locus, molecular basis unknown;

Alternative titles and symbols : Perisylvian syndrome, congenital bilateral; PMGX; BPP; CBPS;

Description : Polymicrogyria (PMG) is a malformation of cortical development in which the brain surface is irregular and the normal gyral pattern replaced by multiple small, partly fused gyri separated by shallow sulci. Microscopic examination shows a simplified 4-layered or unlayered cortex. Several patterns of PMG, including bilateral frontal, bilateral perisylvian, and bilateral mesial occipital PMG, have been described on the basis of their topographic distribution. All but the perisylvian form appear to be rare. Bilateral perisylvian PMG (BPP) often results in a typical clinical syndrome that is manifested by mild mental retardation, epilepsy, and pseudobulbar palsy, which causes difficulties with expressive speech and feeding (Kuzniecky et al., 1993). PMG may be a feature of other conditions as well (see, e.g., 300643).;

Inheritance : X-linked dominant;

Prefixed ID : %300388;

Details

Origin ID

300388;

UMLS CUI

C1845668;

Automatic exact mappings (from CISMeF team)
- 1-chloro-3-bromopropene-1 (substance) [SNOMED CT concept]
- CREB-Binding Protein [NCIt concept]
- CREBBP wt Allele [NCIt concept]
- Fetal Biophysical Profile [NCIt concept]
- Polybrominated biphenyl (substance) [SNOMED CT concept]
Broader ORDO disease(s)
- Polymicrogyria [ORDO Disease]
Currated CISMeF NLP mapping
- Bilateral perisylvian polymicrogyria [ICD-11 More detail]
- Bilateral perisylvian polymicrogyria [HPO term]
- Bilateral perisylvian polymicrogyria [ORDO Disease]
- Congenital bilateral perisylvian syndrome [MedDRA Preferred Term]
- Congenital bilateral perisylvian syndrome (disorder) [SNOMED CT concept]
- Perisylvian syndrome [MeSH concept]
- bilateral perisylvian polymicrogyria [DO Concept]
- perisylvian syndrome [MeSH Supplementary Concept]
HPO term(s)
- Atypical absence seizure [HPO term]
- Bilateral tonic-clonic seizure [HPO term]
- Cognitive impairment [HPO term]
- Delayed speech and language development [HPO term]
- Dysarthria [HPO term]
- Dyslexia [HPO term]
- Polymicrogyria [HPO term]
- Pseudobulbar paralysis [HPO term]
- X-linked dominant inheritance [HPO term]
ORDO concept(s)
- Bilateral perisylvian polymicrogyria [ORDO Disease]
- Bilateral polymicrogyria [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Bilateral perisylvian polymicrogyria [ORDO Disease]
- Bilateral perisylvian polymicrogyria [HPO term]
- Congenital bilateral perisylvian syndrome [MedDRA Preferred Term]
- Congenital bilateral perisylvian syndrome (disorder) [SNOMED CT concept]
- Perisylvian syndrome [MeSH concept]
- perisylvian syndrome [MeSH Supplementary Concept]

Keyword's position in hierarchy(ies) :

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