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5 OMIM references -
4 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
10 signs/symptoms
Familial hemophagocytic lymphohistiocytosis
Hereditary cerebral hemorrhage with amyloidosis, Iowa type

PRF1 APP
STX11
STXBP2
UNC13D


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
STX11
(0.56)
APP



Citations in the biomedical literature:


Familial hemophagocytic lymphohistiocytosis
PRF1 STX11 STXBP2 UNC13D
Hereditary cerebral hemorrhage with amyloidosis, Iowa type
APP



Familial hemophagocytic lymphohistiocytosis
Hereditary cerebral hemorrhage with amyloidosis, Iowa type

Synonym(s):
- Familial HLH

Synonym(s):
- HCHWA, Iowa type

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

Classification (ICD10):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -
Classification (ICD10):
(no data available)

Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive
Epidemiological data:
(no data available)

External references:
5 OMIM references -
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



Familial hemophagocytic lymphohistiocytosis

(no data available)