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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
2 OMIM references -
3 associated genes
No signs/symptoms info
Pelizaeus-Merzbacher-like due to HSPD1 mutation
Genetic recurrent myoglobinuria

HSPD1 LPIN1
MT-CO1
MT-CO3


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
HSPD1
(0.55)
MT-CO1



Citations in the biomedical literature:


Pelizaeus-Merzbacher-like due to HSPD1 mutation
HSPD1
Genetic recurrent myoglobinuria
LPIN1 MT-CO1 MT-CO3



Pelizaeus-Merzbacher-like due to HSPD1 mutation
Genetic recurrent myoglobinuria

Synonym(s):
- Mitochondrial HSP60 chaperonopathy

Synonym(s):
(no synonyms)

Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
- Rare neurologic disease

Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Classification (ICD10):
- Symptoms, signs and abnormal clinical and laboratory findings, not elsewhere classified -

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

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

No signs/symptoms info available.