Polymicrogyria, Bilateral Frontoparietal malady
Categories: Genetic diseases, Rare diseases, Neuronal diseases, Fetal diseases
Aliases & Descriptions for Polymicrogyria, Bilateral Frontoparietal:
polymicrogyria, bilateral frontoparietal:
Inheritance: autosomal recessive inheritance
Global: Genetic diseases, Rare diseases, Fetal diseases
Anatomical: Neuronal diseases
NIH Rare Diseases:47 Bilateral frontoparietal polymicrogyria (BFPP) is a rare neurological disorder that affects the cerebral cortex (the outer surface of the brain). BFPP specifically affects the frontal and parietal lobes on both sides of the brain (bilateral). Signs and symptoms typically include moderate to severe intellectual disability, developmental delay, seizures, cerebellar ataxia, strabismus, and dysconjugate gaze (eyes that are not aligned). Some cases are caused by mutations in the GPR56 gene and are inherited in an autosomal recessive manner. Treatment is based on the signs and symptoms present in each person. Last updated: 6/8/2015
MalaCards based summary: Polymicrogyria, Bilateral Frontoparietal, also known as bilateral frontoparietal polymicrogyria, is related to polymicrogyria, symmetric or asymmetric and polymicrogyria, and has symptoms including esotropia, exotropia and nystagmus. An important gene associated with Polymicrogyria, Bilateral Frontoparietal is ADGRG1 (Adhesion G Protein-Coupled Receptor G1). Affiliated tissues include brain, cortex and parietal lobe.
UniProtKB/Swiss-Prot:69 Polymicrogyria, bilateral frontoparietal: A malformation of the cortex in which the brain surface is irregular and characterized by an excessive number of small gyri with abnormal lamination, most severe in the frontoparietal regions. BFPP clinical manifestations include developmental and psychomotor delay, cerebellar and pyramidal signs, truncal ataxia, seizures, hyperreflexia. Polymicrogyria is a heterogeneous disorder, considered to be the result of postmigratory abnormal cortical organization.
Wikipedia:70 Bilateral frontoparietal polymicrogyria (BFPP) is a genetic disorder with autosomal recessive... more...
Description from OMIM:51 606854
Diseases related to Polymicrogyria, Bilateral Frontoparietal via text searches within MalaCards or GeneCards Suite gene sharing:
Human phenotypes related to Polymicrogyria, Bilateral Frontoparietal:63 (show all 17)
UMLS symptoms related to Polymicrogyria, Bilateral Frontoparietal:seizures, pyramidal sign, ataxia, truncal
Genetic tests related to Polymicrogyria, Bilateral Frontoparietal:
MalaCards organs/tissues related to Polymicrogyria, Bilateral Frontoparietal:35
Brain, Cortex, Parietal lobe, Eye
Search GEO for disease gene expression data for Polymicrogyria, Bilateral Frontoparietal.
30ICD10 via Orphanet
39MESH via Orphanet
52OMIM via Orphanet
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
68UMLS via Orphanet