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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, Dutch type
1 OMIM reference -
1 associated gene
8 signs/symptoms
Glycogen storage disease due to muscle and heart glycogen synthase deficiency
Hereditary cerebral hemorrhage with amyloidosis, Dutch 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, Dutch type
APP



Glycogen storage disease due to muscle and heart glycogen synthase deficiency
Hereditary cerebral hemorrhage with amyloidosis, Dutch 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, Dutch type
- HCHWA-D
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:
Class of prevalence: <1 / 1 000 000
Average age onset: adulthood
Average age of death: adult
Type of inheritance: autosomal dominant
External references:
1 OMIM reference -
No MeSH references
External references:
1 OMIM reference -
2 MeSH references: C537944 / D028243
Hereditary cerebral hemorrhage with amyloidosis, Dutch type

Very frequent
- Facial pain / cephalalgia / migraine
- Intracranial / cerebral / meningeal hemorrhage
- Psychic / behavioural troubles
- Psychic / psychomotor regression / dementia / intellectual decline

Frequent
- Intracranial / cerebral calcifications
- Seizures / epilepsy / absences / spasms / status epilepticus
- Transient cerebral ischemia / stroke

Occasional
- Early death / lethality


Glycogen storage disease due to muscle and heart glycogen synthase deficiency

(no data available)