Cytoscape Web
Click node...

Leigh syndrome with cardiomyopathy
8 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 2
Hereditary cerebral hemorrhage with amyloidosis, Piedmont type
1 OMIM reference -
1 associated gene
13 signs/symptoms
Leigh syndrome with cardiomyopathy
Hereditary cerebral hemorrhage with amyloidosis, Piedmont type

COA5
(UniProt - OMIM)
 APP
(UniProt - OMIM)
COX10
(UniProt - OMIM)
COX15
(UniProt - OMIM)
COX6B1
(UniProt - OMIM)
PDHA1
(UniProt - OMIM)
SCO2
(UniProt - OMIM)
SURF1
(UniProt - OMIM)
TACO1
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
SCO2
TACO1
(0.56)
(0.56)
APP
APP


Citations in the biomedical literature:


Leigh syndrome with cardiomyopathy
COA5 COX10 COX15 COX6B1 PDHA1 SCO2
SURF1 TACO1
Hereditary cerebral hemorrhage with amyloidosis, Piedmont type
APP



Leigh syndrome with cardiomyopathy
Hereditary cerebral hemorrhage with amyloidosis, Piedmont type

Synonym(s):
- Cardiomyopathy with hypotonia due to cytochrome C oxidase deficiency
- Cardiomyopathy with myopathy due to COX deficiency
- Leigh disease with myopathy
Synonym(s):
- HCHWA, Piedmont type
Classification (Orphanet):
- Inborn errors of metabolism
- Rare eye disease
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
- Rare systemic or rheumatologic disease
Classification (ICD10):
- Diseases of the nervous system -
Classification (ICD10):
(no data available)
Epidemiological data:
(no data available)
Epidemiological data:
(no data available)
External references:
No OMIM references
No MeSH references
External references:
1 OMIM reference -
No MeSH references
Hereditary cerebral hemorrhage with amyloidosis, Piedmont type

Very frequent
- Autosomal dominant inheritance
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Intracranial / cerebral / meningeal hemorrhage
- Motor deficit / trouble
- Obnubilation / coma / lethargia / desorientation
- Paresthesia / dysesthesia / hypoesthesia / anesthesia / numbness
- Psychic / psychomotor regression / dementia / intellectual decline
- Sensitive trouble / deficit
- Transient cerebral ischemia / stroke

Frequent
- Cerebral vascular anomalies
- Facial pain / cephalalgia / migraine
- Psychic / behavioural troubles

Occasional
- Early death / lethality


Leigh syndrome with cardiomyopathy

(no data available)