ORPHA:1980
Bilateral striopallidodentate calcinosis
Synonyms: BSPDC · Cerebrovascular ferrocalcinosis · Idiopathic basal ganglia calcification · PFBC · Primary familial brain calcification
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant, Autosomal recessive, Not applicable
- Age of onset
- Adult
- Status
- active
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.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Bilateral striopallidodentate calcinosis | BSPDC · Cerebrovascular ferrocalcinosis · Idiopathic basal ganglia calcification · PFBC · Primary familial brain calcification |
| fr | Calcinose striopallidodentée bilatérale | Calcification idiopathique des ganglions de la base · Calcification idiopathique des noyaux gris centraux · Calcification primaire familiale du cerveau · Ferrocalcinose cérébrovasculaire · PFBC |
| de | Striopallidodentate Kalzinose, bilaterale | BSPDC · Basalganglien-Kalzifizierung, idiopathische · Ferrokalzinose, zerebrovaskuläre · PFBC · Primäre familiäre Basalganglien-Kalzifikation |
| es | Calcinosis bilateral estriato-pálido-dentada | BSPDC · Calcificación cerebral familiar primaria · Calcificación idiopática de los ganglios basales · Ferrocalcinosis cerebrovascular · PFBC |
| it | Calcinosi striopallidodentata bilaterale | BSPDC · Calcificazione idiopatica dei gangli basali · Ferrocalcinosi cerebrovascolare |
| nl | Bilaterale striatopallidodentate calcinose | BSPDC · Cerebrovasculaire ferrocalcinose · Idiopathische calcificatie van basale ganglia · PFBC · Primaire familiale hersenverkalking |
| pt | Calcinose-estrio-palido-dentada bilateral | Ferrocalcinose cerebro-vascular |
| pl | Obustronne zwapnienie prążkowiowo- gałkowo-zębate | BSPDC · Idiopatyczne zwapnienie jąder podstawy |
| cs | Oboustranná kalcinóza striopallidodentata | BSPDC · Cerebrovaskulární ferokalcinóza · Idiopatická kalcifikace bazálních ganglií |
| uk | Двосторонній стриопаллидодентатний кальциноз | BSPDC · Цереброваскулярний ферокальциноз · Ідіопатична кальцифікація базальних гангліїв · PFBC · Первинна сімейна кальцифікація мозку |
| zh | 双侧纹状体-苍白球-齿状核钙化 | 特发性基底神经节钙化症 |
| tr | Bilateral striopallidodentat kalsinoz | PFBC · BSPDC · Serebrovasküler ferrokalsinoz · Primer ailesel beyin kalsifikasyonu · İdiyopatik bazal gangliyon kalsifikasyonu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 114100 | BTNT | validated | |
| OMIM | 213600 | BTNT | validated | |
| OMIM | 615007 | BTNT | validated | |
| OMIM | 615483 | BTNT | validated | |
| OMIM | 616413 | BTNT | validated | |
| OMIM | 618317 | BTNT | validated | |
| OMIM | 618824 | BTNT | validated | |
| OMIM | 620786 | BTNT | validated | |
| OMIM | 621452 | BTNT | validated | |
| ICD-10 | G23.8 | NTBT | inclusion | validated |
| ICD-11 | LD20.4 | NTBT | index | validated |
| MONDO | 0008947 | E | validated | |
| GARD | 6406 | E | validated | |
| MedDRA | 10078822 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (5):
- ORPHA:158124Genetic dementia
rare genetic diseases - ORPHA:89043Rare dementia
rare neurological diseases - ORPHA:307055Rare parkinsonian syndrome due to genetic neurodegenerative disease
rare genetic diseases - ORPHA:306666Rare parkinsonian syndrome due to neurodegenerative disease
rare neurological diseases - ORPHA:611314Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
rare genetic diseases; rare neurological diseases
No children.
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Genes
9 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| CMPK2 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:27015 | ENSG00000134326 | 611787 | 2p25.2 | cytidine/uridine monophosphate kinase 2 | 36443312[PMID] |
| JAM2 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:14686 | ENSG00000154721 | 606870 | 21q21.3 | junctional adhesion molecule 2 | 31851307[PMID] |
| NAA60 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:25875 | ENSG00000122390 | 614246 | 16p13.3 | N-alpha-acetyltransferase 60, NatF catalytic subunit | 38480682[PMID] |
| PDGFB | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:8800 | ENSG00000100311 | 190040 | 22q13.1 | platelet derived growth factor subunit B | 23913003[PMID]_20301594[PMID] |
| MYORG | Disease-causing germline mutation(s) in | Assessed | HGNC:19918 | ENSG00000164976 | 618255 | 9p13.3 | myogenesis regulating glycosidase | 30649222[PMID] |
| PDGFRB | Disease-causing germline mutation(s) in | Assessed | HGNC:8804 | ENSG00000113721 | 173410 | 5q32 | platelet derived growth factor receptor beta | 23255827[PMID]_20301594[PMID] |
| RRP12 | Disease-causing germline mutation(s) in | Assessed | HGNC:29100 | ENSG00000052749 | 617723 | 10q24.1 | ribosomal RNA processing 12 homolog | 41059649[PMID] |
| SLC20A2 | Disease-causing germline mutation(s) in | Assessed | HGNC:10947 | ENSG00000168575 | 158378 | 8p11.21 | solute carrier family 20 member 2 | 22327515[PMID]_20301594[PMID] |
| XPR1 | Disease-causing germline mutation(s) in | Assessed | HGNC:12827 | ENSG00000143324 | 605237 | 1q25.3 | xenotropic and polytropic retrovirus receptor 1 | 25938945[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 200 cases | Worldwide | Case(s) | Validated | 9065541[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
33 annotations · validated 2025-04-03| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0000739 | Anxiety | |
| HP:0002135 | Basal ganglia calcification | Diagnostic criterion |
| HP:0007146 | Bilateral basal ganglia lesions | |
| HP:0002067 | Bradykinesia | |
| HP:0001266 | Choreoathetosis | |
| HP:0000726 | Dementia | |
| HP:0002315 | Headache | |
| HP:0000298 | Mask-like facies | |
| HP:0000751 | Personality changes | |
| HP:0002344 | Progressive neurologic deterioration | Diagnostic criterion |
| HP:0000709 | Psychosis | |
| HP:0002063 | Rigidity | |
| HP:0001250 | Seizure | |
| HP:0001337 | Tremor | |
| HP:0002321 | Vertigo | |
| Occasional (29-5%) | ||
| HP:0007256 | Abnormal pyramidal sign | |
| HP:0007352 | Cerebellar calcifications | |
| HP:0002312 | Clumsiness | |
| HP:0031987 | Diminished ability to concentrate | |
| HP:0100660 | Dyskinesia | |
| HP:0002015 | Dysphagia | |
| HP:0001332 | Dystonia | |
| HP:0003388 | Easy fatigability | |
| HP:0000822 | Hypertension | |
| HP:0000802 | Impotence | |
| HP:0004305 | Involuntary movements | |
| HP:0002354 | Memory impairment | |
| HP:0003394 | Muscle spasm | |
| HP:0001350 | Slurred speech | |
| HP:0002317 | Unsteady gait | |
| HP:0000012 | Urinary urgency | |
| Excluded (0%) | ||
| HP:0032180 | Abnormal circulating metabolite concentration | Diagnostic criterion |
| HP:0011450 | Unusual CNS infection | Diagnostic criterion |
Annotation source: 20301594[PMID]_11295778[PMID]_37446066[PMID]_32809692[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1980
- This record as JSON: /data/d/1980.json