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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
2 associated genes
No signs/symptoms info
Cerebellar ataxia-deafness-narcolepsy syndrome
Isolated delta-storage pool disease

DNMT1 FLI1
RUNX1


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
DNMT1
(0.73)
RUNX1



Citations in the biomedical literature:


Cerebellar ataxia-deafness-narcolepsy syndrome
DNMT1
Isolated delta-storage pool disease
FLI1 RUNX1



Cerebellar ataxia-deafness-narcolepsy syndrome
Isolated delta-storage pool disease

Synonym(s):
- ADCA-DN
- Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome

Synonym(s):
- Isolated delta-SPD
- Isolated dense-SPD
- Isolated dense-storage pool disease

Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare neurologic disease
- Rare otorhinolaryngologic disease
Classification (Orphanet):
- Rare genetic disease
- Rare hematologic disease

Classification (ICD10):
(no data available)
Classification (ICD10):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -

Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: adulthood
Average age of death: -
Type of inheritance: autosomal dominant
Epidemiological data:
(no data available)

External references:
1 OMIM reference -
No MeSH references
External references:
No OMIM references
No MeSH references

No signs/symptoms info available.