Cytoscape Web
Click node...


1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
2 OMIM references -
6 associated genes
No signs/symptoms info
Pelizaeus-Merzbacher-like due to HSPD1 mutation
Mitochondrial nonsyndromic sensorineural deafness

HSPD1 MT-CO1
MT-RNR1
MT-TH
MT-TS1
TFB1M
TRMU


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
MT-CO1 MT-RNR1 MT-TH MT-TS1 TFB1M TRMU



Pelizaeus-Merzbacher-like due to HSPD1 mutation
Mitochondrial nonsyndromic sensorineural deafness

Synonym(s):
- Mitochondrial HSP60 chaperonopathy

Synonym(s):
- Isolated mitochondrial neurosensory deafness
- Isolated mitochondrial sensorineural deafness
- Mitochondrial nonsyndromic neurosensory deafness

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):
- Diseases of the ear and mastoid process -

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: mitochondrial inheritance

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

No signs/symptoms info available.