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1 OMIM reference -
6 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 2
1 OMIM reference -
1 associated gene
12 signs/symptoms
Progressive non-fluent aphasia
Sea-blue histiocytosis

C9ORF72 APOE
CHMP2B
GRN
MAPT
PSEN1
VCP


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
MAPT
PSEN1
(0.87)
(0.63)
APOE
APOE



Citations in the biomedical literature:


Progressive non-fluent aphasia
C9ORF72 CHMP2B GRN MAPT PSEN1 VCP

Sea-blue histiocytosis
APOE



Progressive non-fluent aphasia
Sea-blue histiocytosis

Synonym(s):
- Agramatic variant of PPA
- Agramatic variant of primary progressive aphasia
- Non-fluent variant PPA

Synonym(s):
(no synonyms)

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

Classification (ICD10):
- Diseases of the nervous system -
Classification (ICD10):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -

Epidemiological data:
Class of prevalence: 1-9 / 100 000
Average age onset: adulthood
Average age of death: -
Type of inheritance: multigenic/multifactorial
Epidemiological data:
(no data available)

External references:
1 OMIM reference -
1 MeSH reference: D057178
External references:
1 OMIM reference -
No MeSH references

Sea-blue histiocytosis

Very frequent
- Blepharitis / eyelid inflammation
- Cutaneous edema
- Hemorrhage / hemorrhagic syndrome / excessive / long-lasting bleeding
- Hepatomegaly / liver enlargement (excluding storage disease)
- Mediastinal / hilar adenopathies
- Purpura / petichiae
- Splenomegaly
- Subcutaneous nodules / lipomas / tumefaction / swelling
- Thrombocytopenia / thrombopenia

Frequent
- Lung / pulmonary infiltrates

Occasional
- Irregular / in bands / reticular skin hyperpigmentation
- Retinopathy


Progressive non-fluent aphasia

(no data available)