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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
8 signs/symptoms
CLN10 disease
Hereditary cerebral hemorrhage with amyloidosis, Dutch type

CTSD APP


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
CTSD
(0.82)
APP



Citations in the biomedical literature:


CLN10 disease
CTSD
Hereditary cerebral hemorrhage with amyloidosis, Dutch type
APP



CLN10 disease
Hereditary cerebral hemorrhage with amyloidosis, Dutch type

Synonym(s):
- Cathepsin D deficiency

Synonym(s):
- HCHWA, Dutch type
- HCHWA-D

Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
- Rare neurologic 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: -
Average age onset: variable
Average age of death: -
Type of inheritance: autosomal recessive
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


CLN10 disease

(no data available)