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1 OMIM reference -
1 associated gene
16 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 4
1 OMIM reference -
1 associated gene
8 signs/symptoms
Atypical teratoid tumor
Hereditary cerebral hemorrhage with amyloidosis, Dutch type

SMARCB1 APP


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
SMARCB1
(0.56)
APP



Citations in the biomedical literature:


Atypical teratoid tumor
SMARCB1
Hereditary cerebral hemorrhage with amyloidosis, Dutch type
APP



Atypical teratoid tumor
Hereditary cerebral hemorrhage with amyloidosis, Dutch type

Synonym(s):
(no synonyms)

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

Classification (Orphanet):
- Rare neurologic disease
- Rare oncologic disease
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
- Rare systemic or rheumatologic disease

Classification (ICD10):
(no data available)
Classification (ICD10):
(no data available)

Epidemiological data:
(no data available)
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


COMMON
SIGNS
- Early death / lethality
- Facial pain / cephalalgia / migraine
- Intracranial / cerebral calcifications
- Seizures / epilepsy / absences / spasms / status epilepticus


Atypical teratoid tumor
Hereditary cerebral hemorrhage with amyloidosis, Dutch type

Very frequent
- Central nervous system / peripheral nerves neoplasm / tumor / carcinoma / cancer
- Humour troubles / anxiety / depression / apathy / euphoria / irritability
- Nausea / vomiting / regurgitation / merycism / hyperemesis

Frequent
- Ataxia / incoordination / trouble of the equilibrium
- Hemiplegia / diplegia / hemiparesia / limb palsy
- Hydrocephaly
- Macrocephaly / macrocrania / megalocephaly / megacephaly
- Muscle weakness / flaccidity
- Restricted joint mobility / joint stiffness / ankylosis
- Sleep and vigilance disorders

Occasional
- Acute palsy
- Cranial nerves palsy


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

Frequent
- Transient cerebral ischemia / stroke