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6 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
15 signs/symptoms
Semantic dementia
Cyclic neutropenia

C9ORF72 ELANE
CHMP2B
GRN
MAPT
PSEN1
VCP


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
GRN
(0.55)
ELANE



Citations in the biomedical literature:


Semantic dementia
C9ORF72 CHMP2B GRN MAPT PSEN1 VCP

Cyclic neutropenia
ELANE



Semantic dementia
Cyclic neutropenia

Synonym(s):
- Semantic primary progressive aphasia
- Semantic variant PPA

Synonym(s):
(no synonyms)

Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare genetic disease
- Rare immune 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: -
Average age onset: adulthood
Average age of death: -
Type of inheritance: multigenic/multifactorial
Epidemiological data:
Class of prevalence: 1-9 / 1 000 000
Average age onset: variable
Average age of death: -
Type of inheritance: autosomal dominant

External references:
No OMIM references
No MeSH references
External references:
1 OMIM reference -
1 MeSH reference: C536227

Cyclic neutropenia

Very frequent
- Anaemia
- Asthenia / fatigue / weakness
- Chronic skin infection / ulcerations / ulcers / cancrum
- Fever / chilling
- Polynuclear cells / neutrophils anomalies / neutropenia
- Sepsis severe / septicemia

Frequent
- Alveolysis / paraodontitis

Occasional
- Acute abdominal pain / colic
- Autosomal dominant inheritance
- Enanthema / aphtosa / aphta / leukoplakia
- Eosinophils anomalies / hypereosinophilia
- Lymphadenopathy / polyadenopathies
- Multiple caries
- Repeat respiratory infections
- Thrombocytopenia / thrombopenia


Semantic dementia

(no data available)