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Pelizaeus-Merzbacher-like due to HSPD1 mutation
1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Mitochondrial nonsyndromic sensorineural deafness with susceptibility to aminoglycoside exposure
1 OMIM reference -
5 associated genes
No signs/symptoms info
Pelizaeus-Merzbacher-like due to HSPD1 mutation
Mitochondrial nonsyndromic sensorineural deafness with susceptibility to aminoglycoside exposure

HSPD1
(UniProt - OMIM)
 MT-CO1
(UniProt - OMIM)
MT-ND4
(UniProt - OMIM)
MT-RNR1
(OMIM)
MT-TS1
(OMIM)
TRMU
(UniProt - OMIM)

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
Mitochondrial nonsyndromic sensorineural deafness with susceptibility to aminoglycoside exposure
MT-CO1 MT-ND4 MT-RNR1 MT-TS1 TRMU



Pelizaeus-Merzbacher-like due to HSPD1 mutation
Mitochondrial nonsyndromic sensorineural deafness with susceptibility to aminoglycoside exposure

Synonym(s):
- Mitochondrial HSP60 chaperonopathy
Synonym(s):
- Mitochondrial isolated neurosensory deafness with susceptibility to aminoglycoside exposure
- Mitochondrial isolated neurosensory hearing loss with susceptibility to aminoglycoside exposure
- Mitochondrial isolated sensorineural deafness with susceptibility to aminoglycoside exposure
- Mitochondrial isolated sensorineural hearing loss with susceptibility to aminoglycoside exposure
- Mitochondrial nonsyndromic neurosensory deafness with susceptibility to aminoglycoside exposure
- Mitochondrial nonsyndromic neurosensory hearing loss with susceptibility to aminoglycoside exposure
- Mitochondrial nonsyndromic sensorineural hearing loss with susceptibility to aminoglycoside exposure
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
- Rare otorhinolaryngologic disease
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Classification (ICD10):
(no data available)
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: variable
Average age of death: -
Type of inheritance: mitochondrial inheritance
External references:
1 OMIM reference -
No MeSH references
External references:
1 OMIM reference -
No MeSH references
No signs/symptoms info available.