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3 OMIM references -
3 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
No signs/symptoms info
Unverricht-Lundborg disease
Pelizaeus-Merzbacher-like due to HSPD1 mutation

CSTB HSPD1
PRICKLE1
SCARB2


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
SCARB2
(0.49)
HSPD1



Citations in the biomedical literature:


Unverricht-Lundborg disease
CSTB PRICKLE1 SCARB2
Pelizaeus-Merzbacher-like due to HSPD1 mutation
HSPD1



Unverricht-Lundborg disease
Pelizaeus-Merzbacher-like due to HSPD1 mutation

Synonym(s):
- Progressive myoclonic epilepsy type 1
- ULD

Synonym(s):
- Mitochondrial HSP60 chaperonopathy

Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease

Classification (ICD10):
- Diseases of the nervous system -
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -

Epidemiological data:
Class of prevalence: 1-9 / 1 000 000
Average age onset: childhood
Average age of death: -
Type of inheritance: autosomal recessive
Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: before age 5
Type of inheritance: autosomal recessive

External references:
3 OMIM references -
1 MeSH reference: D020194
External references:
1 OMIM reference -
No MeSH references

No signs/symptoms info available.