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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
10 signs/symptoms
Glycogen storage disease due to phosphoglucomutase deficiency
Hereditary cerebral hemorrhage with amyloidosis, Iowa type

PGM1 APP


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
PGM1
(0.56)
APP



Citations in the biomedical literature:


Glycogen storage disease due to phosphoglucomutase deficiency
PGM1
Hereditary cerebral hemorrhage with amyloidosis, Iowa type
APP



Glycogen storage disease due to phosphoglucomutase deficiency
Hereditary cerebral hemorrhage with amyloidosis, Iowa type

Synonym(s):
- GSD due to phosphoglucomutase deficiency
- GSD type 14
- GSDXIV
- Glycogen storage disease type 14
- Glycogenosis due to phosphoglucomutase deficiency
- Glycogenosis type 14
- Phosphoglucomutase 1 deficiency

Synonym(s):
- HCHWA, Iowa type

Classification (Orphanet):
- Inborn errors of metabolism
- 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: -
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

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



Glycogen storage disease due to phosphoglucomutase deficiency

(no data available)