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Condition report · Neurological

Primary Familial Brain Calcification

The deposition of calcium salts within the basal ganglia region of the brain; it can be an age-related physiological finding or a manifestation of various underlying conditions such as metabolic, genetic, infectious, or vascular disorders, sometimes associated with neurological symptoms.

A condition report looks for rare variants known to cause the conditions it covers.

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The 4 conditions we analyse

Primary Familial Brain Calcification (All Types)

Umbrella term covering primary familial brain calcification (bilateral striopallidodentate calcinosis), including the dominant SLC20A2, PDGFRB, PDGFB and XPR1 forms and the recessive MYORG and JAM2 forms.

Genes analysed

Also known as

basal ganglia calcification; basal ganglia degeneration with calcification; BSPDC; cerebrovascular ferrocalcinosis; Fahr disease; idiopathic basal ganglia calcification; PFBC; Primary Familial Brain Calcification

Specific forms also covered

  • Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive

    Autosomal recessive

    MYORG

  • Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive

    Autosomal recessive

    JAM2

  • Basal Ganglia Calcification, Idiopathic, 1

    Autosomal dominant

    SLC20A2

Includes 10 related subtypes ↓
  • basal ganglia calcification, idiopathic, 1
  • basal ganglia calcification, idiopathic, 10, autosomal recessive
  • basal ganglia calcification, idiopathic, 11, autosomal recessive
  • basal ganglia calcification, idiopathic, 4
  • basal ganglia calcification, idiopathic, 5
  • basal ganglia calcification, idiopathic, 6
  • basal ganglia calcification, idiopathic, 7, autosomal recessive
  • basal ganglia calcification, idiopathic, 8, autosomal recessive
  • basal ganglia calcification, idiopathic, 9, autosomal recessive
  • basal ganglia calcification, idiopathic, childhood-onset
MONDO:0008947Orphanet 1980

Other neurological conditions

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