bilateral striopallidodentate calcinosis
Findings
No curated finding names bilateral striopallidodentate calcinosis yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A basal ganglia disease characterized by the accumulation of calcium deposits in different brain regions, particularly the basal ganglia and dentate nucleus, and is often associated with neurodegeneration.
Definition from the Mondo Disease Ontology (MONDO:0008947), read 2026-09-29. CC BY 4.0.
Features
31 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- AnxietyHPOHP:0000739
- Frequent (30% to 79% of cases)
- Basal ganglia calcificationHPO · MondoHP:0002135
- Frequent (30% to 79% of cases)
- Bilateral basal ganglia lesionsHPOHP:0007146
- Frequent (30% to 79% of cases)
- BradykinesiaHPOHP:0002067
- Frequent (30% to 79% of cases)
- ChoreoathetosisHPOHP:0001266
- Frequent (30% to 79% of cases)
- DementiaHPOHP:0000726
- Frequent (30% to 79% of cases)
- HeadacheHPOHP:0002315
- Frequent (30% to 79% of cases)
- Mask-like faciesHPOHP:0000298
- Frequent (30% to 79% of cases)
- Personality changesHPOHP:0000751
- Frequent (30% to 79% of cases)
- Progressive neurologic deteriorationHPOHP:0002344
- Frequent (30% to 79% of cases)
- PsychosisHPOHP:0000709
- Frequent (30% to 79% of cases)
- RigidityHPOHP:0002063
- Frequent (30% to 79% of cases)
Reported absent (2)
- Abnormal circulating metabolite concentrationHPOHP:0032180
- Unusual CNS infectionHPOHP:0011450
Show the remaining 19
- SeizureHPOHP:0001250
- Frequent (30% to 79% of cases)
- TremorHPOHP:0001337
- Frequent (30% to 79% of cases)
- VertigoHPOHP:0002321
- Frequent (30% to 79% of cases)
- Abnormal pyramidal signHPOHP:0007256
- Occasional (5% to 29% of cases)
- Cerebellar calcificationsHPOHP:0007352
- Occasional (5% to 29% of cases)
- ClumsinessHPOHP:0002312
- Occasional (5% to 29% of cases)
Genes
6 genes
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- JAM2HGNC:14686
- Supportive · Orphanet · Autosomal dominant · 2021
- MYORGHGNC:19918
- Supportive · Orphanet · Autosomal dominant · 2021
- PDGFBHGNC:8800
- Supportive · Orphanet · Autosomal dominant · 2021
- PDGFRBHGNC:8804
- Supportive · Orphanet · Autosomal dominant · 2021
- SLC20A2HGNC:10947
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
- Narrower terms (10)
- 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
Other names
6 names
Resolves to: bilateral striopallidodentate calcinosis
- Also called
- basal ganglia calcificationbasal ganglia degeneration with calcificationBSPDCcerebrovascular ferrocalcinosisPFBCPrimary Familial Brain Calcification