Bilateral striopallidodentate calcinosis
General Information (adopted from Orphanet):
| Synonyms, Signs: |
BSPDC Cerebrovascular ferrocalcinosis Idiopathic basal ganglia calcification |
| Number of Symptoms | 37 |
| OrphanetNr: | 1980 |
| OMIM Id: |
213600
606656 615007 615483 |
| ICD-10: |
G23.8 |
| UMLs: |
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| MeSH: |
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| MedDRA: |
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| Snomed: |
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Prevalence, inheritance and age of onset:
| Prevalence: | < 200 cases [Orphanet] |
| Inheritance: |
Autosomal dominant Not applicable [Orphanet] |
| Age of onset: |
Adult [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Genetic dementia
-Rare genetic disease Miscellaneous movement disorder due to genetic neurodegenerative disease -Rare genetic disease Miscellaneous movement disorder due to neurodegenerative disease -Rare neurologic disease Rare dementia -Rare neurologic disease |
Symptom Information:
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(HPO:0000020) | Urinary incontinence | 75 / 7739 | ||||
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(HPO:0000298) | Mask-like facies | 44 / 7739 | ||||
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(HPO:0000252) | Microcephaly | Very frequent [Orphanet] | 832 / 7739 | |||
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(HPO:0000481) | Abnormality of the cornea | Frequent [Orphanet] | 124 / 7739 | |||
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(HPO:0002075) | Dysdiadochokinesis | 40 / 7739 | ||||
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(HPO:0002406) | Limb dysmetria | 5 / 7739 | ||||
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(HPO:0001260) | Dysarthria | 329 / 7739 | ||||
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(HPO:0001347) | Hyperreflexia | 363 / 7739 | ||||
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(HPO:0002067) | Bradykinesia | 62 / 7739 | ||||
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(HPO:0002354) | Memory impairment | 63 / 7739 | ||||
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(HPO:0001332) | Dystonia | 197 / 7739 | ||||
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(HPO:0001268) | Mental deterioration | 88 / 7739 | ||||
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(HPO:0007256) | Abnormal pyramidal signs | rare [HPO:skoehler] | 116 / 7739 | |||
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(HPO:0001288) | Gait disturbance | 318 / 7739 | ||||
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(HPO:0002172) | Postural instability | 22 / 7739 | ||||
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(HPO:0002072) | Chorea | 53 / 7739 | ||||
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(HPO:0000716) | Depression | 99 / 7739 | ||||
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(HPO:0001337) | Tremor | 200 / 7739 | ||||
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(HPO:0001300) | Parkinsonism | 75 / 7739 | ||||
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(HPO:0002063) | Rigidity | 92 / 7739 | ||||
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(HPO:0002305) | Athetosis | 31 / 7739 | ||||
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(HPO:0001250) | Seizures | Very frequent [Orphanet] | 1245 / 7739 | |||
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(HPO:0000709) | Psychosis | 61 / 7739 | ||||
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(HPO:0002504) | Calcification of the small brain vessels | 2 / 7739 | ||||
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(HPO:0002135) | Basal ganglia calcification | 37 / 7739 | ||||
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(HPO:0002514) | Cerebral calcification | Very frequent [Orphanet] | 89 / 7739 | |||
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(HPO:0002461) | Dense calcifications in the cerebellar dentate nucleus | 4 / 7739 | ||||
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(HPO:0002240) | Hepatomegaly | Very frequent [Orphanet] | 467 / 7739 | |||
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(HPO:0001080) | Biliary tract abnormality | Frequent [Orphanet] | 26 / 7739 | |||
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(HPO:0001511) | Intrauterine growth retardation | Very frequent [Orphanet] | 358 / 7739 | |||
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(HPO:0001933) | Subcutaneous hemorrhage | Very frequent [Orphanet] | 50 / 7739 | |||
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(HPO:0001873) | Thrombocytopenia | Very frequent [Orphanet] | 224 / 7739 | |||
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(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 | ||||
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(HPO:0002119) | Ventriculomegaly | Very frequent [Orphanet] | 253 / 7739 | |||
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(HPO:0003581) | Adult onset | 117 / 7739 | ||||
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(HPO:0002536) | Abnormal cortical gyration | Very frequent [Orphanet] | 72 / 7739 | |||
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(HPO:0003676) | Progressive disorder | 148 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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