Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1

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Subtype of: Megalencephaly-polydactyly syndrome · Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome
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Pathways column key: KEGG Reactome
Disease Term Disease ID Gene Symbol Classification References Source Pathways
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1
MONDO_0011313
PIK3R2 Causal
28425981 22729224 26860062 23745724 28502725 26520804 23745720
Open Targets
EGFR tyrosine kinase inhibitor resistance Endocrine resistance Platinum drug resistance +129 more
All1 Causal1 Unknown0
Related Diseases Diseases that share the most curated genes with Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1.
5 View disease cluster →
Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes 1 shared genePIK3R2 Related via 1 shared gene including PIK3R2. Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 shared genePIK3R2 Related via 1 shared gene including PIK3R2. Extragonadal germ cell cancer 1 shared genePIK3R2 Related via 1 shared gene including PIK3R2. Mediastinal malignant germ cell tumor 1 shared genePIK3R2 Related via 1 shared gene including PIK3R2. Hepatosplenic t-cell lymphoma 1 shared genePIK3R2 Related via 1 shared gene including PIK3R2.