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

COA5 APP
COX10
COX15
COX6B1
PDHA1
SCO2
SURF1
TACO1


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, Iowa type
APP



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

Very frequent
- Abnormal gait
- Autosomal dominant inheritance
- Cerebral vascular anomalies
- Feeding disorder / dysphagia / swallowing / sucking disorder / esophageal dyskinesia
- Intracranial / cerebral / meningeal hemorrhage
- Myoclonus / fasciculations
- Psychic / behavioural troubles
- Psychic / psychomotor regression / dementia / intellectual decline
- Transient cerebral ischemia / stroke
- Troubles of memory / amnesia / hypermnesia



Leigh syndrome with cardiomyopathy

(no data available)