Isolated delta-storage pool disease |
Cerebellar ataxia-deafness-narcolepsy syndrome |
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INTERACTOME ASSOCIATIONS (click on a score value to see the evidence) |
RUNX1
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| DNMT1
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Citations in the biomedical literature:
Isolated delta-storage pool disease |
Cerebellar ataxia-deafness-narcolepsy syndrome |
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Synonym(s): - Isolated delta-SPD - Isolated dense-SPD - Isolated dense-storage pool disease
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Synonym(s): - ADCA-DN - Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome
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Classification (Orphanet): - Rare genetic disease - Rare hematologic disease
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Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease - Rare neurologic disease - Rare otorhinolaryngologic disease
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Classification (ICD10): - Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -
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Classification (ICD10): (no data available)
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Epidemiological data: (no data available)
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Epidemiological data: Class of prevalence: <1 / 1 000 000
Average age onset: adulthood
Average age of death: -
Type of inheritance: autosomal dominant
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External references: No OMIM references No MeSH references | |
External references: 1 OMIM reference - No MeSH references
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No signs/symptoms info available.