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GENATLAS PHENOTYPE
last update : 25-01-2012
Symbol PRCF
Location 13q34
Name porencephaly familial
Other name(s) hemiplegia, infantile, with porencephaly
Corresponding gene COL4A1 , COL4A2
Other symbol(s) ADT1P, T1P, POREN1
Main clinical features
  • type 1, cavitation or cerebrospinal fluid-filled cyst in the brain, or encephaloclastic porencephaly, is usually unilateral and results from focal destructive lesions such as fetal vascular occlusion or birth trauma
  • type 2, or schizencephalic porencephaly, is usually symmetric and represents a primary defect or arrest in the development of the cerebral ventricles.
  • type 1 is more common
    • Genetic determination autosomal dominant
    Related entries including cases with cerebral vasculopathy even in the absence of porencephaly (Shah 2009)
    Function/system disorder neurology
    Type disease
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    unknown     G1769A mutation leading to retinal arteriolar tortuosity with white-matter abnormalities and cerebral hemorrhage
    missense   abnormal protein/loss of function G1130D and G1423R
    Remark(s)