Bilateral striopallidodentate calcinosis

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Bilateral striopallidodentate calcinosis

ORPHA:1980Disease

Also called BSPDC · Cerebrovascular ferrocalcinosis · Idiopathic basal ganglia calcification · PFBC · Primary familial brain calcification

What it is

Bilateral striopallidodentate calcinosis (BSPDC, also erroneously called Fahr disease) is characterized by the accumulation of calcium deposits in different brain regions, particularly the basal ganglia and dentate nucleus, and is often associated with neurodegeneration.

Key facts

Prevalence
<1 / 1 000 000
Age of onset
Adult
Inheritance
Autosomal dominant, Autosomal recessive, Not applicable
Classified as
Disease

Prevalence figures describe populations, not individuals, and are often estimates from a single study. Where the figure is an incidence or a birth prevalence, it says so.

Signs and symptoms

These ranges are how often a sign appears across everyone diagnosed, not a prediction for one person — most people have some of these and not others. Orphanet also records findings that are specifically absent in this disease; those are in the data but not listed here.

Genes

CMPK2Disease-causing germline mutation(s) (loss of function)
JAM2Disease-causing germline mutation(s) (loss of function)
MYORGDisease-causing germline mutation(s)
NAA60Disease-causing germline mutation(s) (loss of function)
PDGFBDisease-causing germline mutation(s) (loss of function)
PDGFRBDisease-causing germline mutation(s)
RRP12Disease-causing germline mutation(s)
SLC20A2Disease-causing germline mutation(s)
XPR1Disease-causing germline mutation(s)

ICD-10 codes

G23.8filed under a broader ICD-10 category — shared with 2 other rare diseases

ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.

Related health topics

Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.

Cross-references

GARD 6406MEDDRA 10078822MONDO 0008947OMIM 114100OMIM 213600OMIM 615007OMIM 615483OMIM 616413OMIM 618317OMIM 618824OMIM 620786OMIM 621452

Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.

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