Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1
Also known as PIK3R2 megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome, megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome type 1, megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome caused by mutation in PIK3R2, MPPH1+3 more
PIK3R2 megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome, megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome type 1, megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome caused by mutation in PIK3R2, MPPH1, Meg-PMG-Megacc syndrome, megalencephaly, mega corpus callosum, and complete lack of motor development, megalencephaly, polymicrogyria, mega corpus callosum syndrome.
What's happening now
An analyst briefing on current research, clinical, regulatory and industry activity surrounding this disease.
Associated genes
Genes associated with this disease in the canonical knowledge graph (Open Targets evidence). Number shows the association score.
Disease biology
Proteins whose encoding gene is associated with this disease, reached through the canonical gene→disease graph. Number shows the gene's association score.
Reference
Authoritative identity, definition & identifiers.
PIK3R2 megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome, megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome type 1, megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome caused by mutation in PIK3R2, MPPH1, Meg-PMG-Megacc syndrome, megalencephaly, mega corpus callosum, and complete lack of motor development, megalencephaly, polymicrogyria, mega corpus callosum syndrome
- Disease identity & definition — NLM Medical Subject Headings (MeSH), public domain
- Related entities are derived from literature co-mention (studied together) — associative, not causal.