Cytoscape Web
Click node...


1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
No signs/symptoms info
Autosomal recessive optic atrophy, OPA7 type
Hypotonia with lactic acidemia and hyperammonemia

TMEM126A MRPS22


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
TMEM126A
(0.49)
MRPS22



Citations in the biomedical literature:


Autosomal recessive optic atrophy, OPA7 type
TMEM126A
Hypotonia with lactic acidemia and hyperammonemia
MRPS22



Autosomal recessive optic atrophy, OPA7 type
Hypotonia with lactic acidemia and hyperammonemia

Synonym(s):
(no synonyms)

Synonym(s):
- COXPD5
- Combined oxidative phosphorylation defect type 5

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

Classification (ICD10):
- Diseases of the eye and adnexa -
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -

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

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

No signs/symptoms info available.