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Glycogen storage disease due to muscle and heart glycogen synthase deficiency
1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Hereditary cerebral hemorrhage with amyloidosis, Piedmont type
1 OMIM reference -
1 associated gene
13 signs/symptoms
Glycogen storage disease due to muscle and heart glycogen synthase deficiency
Hereditary cerebral hemorrhage with amyloidosis, Piedmont type

GYS1
(UniProt - OMIM)
 APP
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
GYS1
(0.56)
APP


Citations in the biomedical literature:


Glycogen storage disease due to muscle and heart glycogen synthase deficiency
GYS1
Hereditary cerebral hemorrhage with amyloidosis, Piedmont type
APP



Glycogen storage disease due to muscle and heart glycogen synthase deficiency
Hereditary cerebral hemorrhage with amyloidosis, Piedmont type

Synonym(s):
- GSD due to muscle and heart glycogen synthase deficiency
- GSD type 0b
- Glycogen storage disease type 0b
- Glycogenosis due to muscle and heart glycogen synthase deficiency
- Glycogenosis type 0b
Synonym(s):
- HCHWA, Piedmont type
Classification (Orphanet):
- Inborn errors of metabolism
- Rare cardiac disease
- Rare genetic disease
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
- Rare systemic or rheumatologic disease
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Classification (ICD10):
(no data available)
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: childhood
Average age of death: child / adolescent
Type of inheritance: sporadic
Epidemiological data:
(no data available)
External references:
1 OMIM reference -
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


Glycogen storage disease due to muscle and heart glycogen synthase deficiency

(no data available)