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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
3 signs/symptoms
Free sialic acid storage disease, infantile form
Hereditary cerebral hemorrhage with amyloidosis, Arctic type

SLC17A5 APP


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
SLC17A5
(0.56)
APP



Citations in the biomedical literature:


Free sialic acid storage disease, infantile form
SLC17A5
Hereditary cerebral hemorrhage with amyloidosis, Arctic type
APP



Free sialic acid storage disease, infantile form
Hereditary cerebral hemorrhage with amyloidosis, Arctic type

Synonym(s):
- ISSD

Synonym(s):
- HCHWA, Arctic 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:
(no data available)
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, Arctic type

Very frequent
- Autosomal dominant inheritance
- Psychic / behavioural troubles
- Psychic / psychomotor regression / dementia / intellectual decline



Free sialic acid storage disease, infantile form

(no data available)