Details of Disease

General Information of Disease (ID: DIS9DK0G)

• Disease Name: Bilateral frontoparietal polymicrogyria
• Synonyms: BFPP; polymicrogyria, bilateral frontoparietal; cerebellar ataxia with neuronal migration defect; bilateral frontoparietal polymicrogyria
• Definition: A descriptive term reflecting increased gyral folding in the frontoparietal regions as determined by magnetic resonance imaging. It has subsequently been shown to represent a cobblestone malformation on histopathology. BFPP typically presents with hypotonia, developmental delay, moderate to severe intellectual disability, pyramidal signs, epileptic seizures, non-progressive cerebellar ataxia, deconjugate gaze, and/or strabismus.
• Disease Hierarchy:
  DISMZLHY: Bilateral polymicrogyria
  DISD715V: Hereditary neurological disease
  DIS9DK0G: Bilateral frontoparietal polymicrogyria
• Disease Identifiers:
  MONDO ID: MONDO_0011738
  MESH ID: C564652
  UMLS CUI: C1847352
  OMIM ID: 606854
  MedGen ID: 376107
  Orphanet ID: 101070
  SNOMED CT ID: 890286007

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
GPRC5D	TTHRAPJ	Strong	Genetic Variation	[1]

This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
GPRC5C	OT45AJT3	Strong	Genetic Variation	[1]
ADGRG1	OTQBB8NT	Definitive	Autosomal recessive	[2]

References

• [1] Orphan G protein-coupled receptor GPR56 plays a role in cell transformation and tumorigenesis involving the cell adhesion pathway.Mol Cancer Ther. 2007 Jun;6(6):1840-50. doi: 10.1158/1535-7163.MCT-07-0066.
• [2] Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.