basal ganglia calcification, idiopathic, 5
MONDO:0014204Mondo
Findings
No curated finding names basal ganglia calcification, idiopathic, 5 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Middle age onset · Juvenile onset · Progressive · Young adult onset · Childhood onset
HPO, annotations 2026-09-02
Features
22 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.
- Basal ganglia calcificationHPOHP:0002135
- 31 of 31 reported patients
- Cerebral calcificationHPOHP:0002514
- 12 of 31 reported patients
- Cerebellar calcificationsHPOHP:0007352
- 11 of 31 reported patients
- MigraineHPOHP:0002076
- 7 of 31 reported patients
- Thalamic calcificationHPOHP:0025041
- 7 of 31 reported patients
- DyskinesiaHPOHP:0100660
- 5 of 31 reported patients
- Impaired executive functioningHPOHP:0033051
- 5 of 31 reported patients
- DepressionHPOHP:0000716
- 4 of 31 reported patients
- Memory impairmentHPOHP:0002354
- 4 of 31 reported patients
- VertigoHPOHP:0002321
- 4 of 31 reported patients
- ParkinsonismHPOHP:0001300
- 3 of 31 reported patients
- PsychosisHPOHP:0000709
- 3 of 31 reported patients
Show the remaining 10
- AnxietyHPOHP:0000739
- 2 of 31 reported patients
- ChoreaHPOHP:0002072
- 2 of 31 reported patients
- Postural tremorHPOHP:0002174
- 2 of 31 reported patients
- ApathyHPOHP:0000741
- 1 of 31 reported patients
- AthetosisHPOHP:0002305
- 1 of 31 reported patients
- DementiaHPOHP:0000726
- 1 of 31 reported patients
Genes
1 gene
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.
- PDGFBHGNC:8800
- Strong · Genomics England PanelApp · Autosomal dominant · 2021
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2022
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Moderate · Ambry Genetics · Autosomal dominant · 2018
Where it sits
Other names
1 name
Resolves to: basal ganglia calcification, idiopathic, 5
- Also called
- basal ganglia calcification, idiopathic, type 5