Cytoscape Web
Click node...


6 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 4
11 OMIM references -
11 associated genes
27 signs/symptoms
Semantic dementia
Common variable immunodeficiency

C9ORF72 CD19
CHMP2B CD81
GRN CR2
MAPT ICOS
PSEN1 LRBA
VCP MS4A1
NFKB2
PRKCD
TNFRSF13B
TNFRSF13C
TNFSF12


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
MAPT
VCP
VCP
VCP
(0.63)
(0.63)
(0.63)
(0.56)
PRKCD
LRBA
NFKB2
PRKCD



Citations in the biomedical literature:


Semantic dementia
C9ORF72 CHMP2B GRN MAPT PSEN1 VCP

Common variable immunodeficiency
CD19 CD81 CR2 ICOS LRBA MS4A1
NFKB2 PRKCD TNFRSF13B TNFRSF13C TNFSF12



Semantic dementia
Common variable immunodeficiency

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

Synonym(s):
- CVID
- Idiopathic immunoglobulin deficiency
- Primary antibody deficiency
- Primary hypogammaglobulinemia

Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare genetic disease
- Rare immune disease
- Rare oncologic 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 / 100 000
Average age onset: variable
Average age of death: -
Type of inheritance: autosomal dominant

External references:
No OMIM references
No MeSH references
External references:
11 OMIM references -
1 MeSH reference: D017074

Common variable immunodeficiency

Very frequent
- Agammaglobulinemia / hypogammaglobulinemia / B-cell deficiency
- Autosomal dominant inheritance
- Chronic / relapsing otitis
- Immunodeficiency / increased susceptibility to infections / recurrent infections
- Leukopenia / hypoleukocytosis
- Lymphopenia
- Nasal congestion / sinusitis / rhinitis / rhinorrhea
- Repeat respiratory infections
- Thrombocytopenia / thrombopenia

Frequent
- Abnormal hepatic enzymes / transaminases
- Autosomal recessive inheritance
- Bronchial dilation / dilatation / bronchiectasia
- Hemolytic anemia
- Lymphadenopathy / polyadenopathies
- Malabsorption / chronic diarrhea / steatorrhea
- Purpura / petichiae
- Splenomegaly
- Structural anomalies of the liver and the biliary tract

Occasional
- Articular / joint pain / arthralgia
- Biological inflammatory syndrome / increased erythrocyte sedimentation rate / CRP
- Emphysema
- Estomach / gastric neoplasm / tumor / carcinoma / cancer
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Gastrointestinal stromal tumor
- Interstitial / restrictive pneumopathy / restrictive respiratory syndrome
- Lymphoma
- Vascularitis / vasculitides / arteritis


Semantic dementia

(no data available)