Cytoscape Web
Click node...


1 OMIM reference -
2 associated genes
10 signs/symptoms
PROTEIN INTERACTIONS: 2
7 OMIM references -
9 associated genes
No signs/symptoms info
Apolipoprotein A-I deficiency
Immunodeficiency due to an early component of complement deficiency

ABCA1 C1QA
APOA1 C1QB
C1QC
C1R
C1S
C2
C4A
C4B
SERPING1


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
APOA1
APOA1
(0.72)
(0.72)
C1QA
C1QC



Citations in the biomedical literature:


Apolipoprotein A-I deficiency
ABCA1 APOA1
Immunodeficiency due to an early component of complement deficiency
C1QA C1QB C1QC C1R C1S C2
C4A C4B SERPING1



Apolipoprotein A-I deficiency
Immunodeficiency due to an early component of complement deficiency

Synonym(s):
- ApoA-I deficiency
- Familial apoA-I deficiency
- Familial hypoalphalipoproteinemia

Synonym(s):
- Immunodeficiency due to a C1, C4, or C2 component complement deficiency

Classification (Orphanet):
- Inborn errors of metabolism
- Rare endocrine disease
- Rare genetic disease
Classification (Orphanet):
- Rare genetic disease
- Rare immune disease

Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Classification (ICD10):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -

Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: variable
Average age of death: any age
Type of inheritance: autosomal dominant
Epidemiological data:
(no data available)

External references:
1 OMIM reference -
1 MeSH reference: D052456
External references:
7 OMIM references -
No MeSH references

Apolipoprotein A-I deficiency

Frequent
- Abnormal EMG / electromyogram / electropmyography
- Abnormal muscle biopsy / muscle enzymes / CPK / LDH / aldolase / creatin phosphokinase
- Anaemia
- Autosomal recessive inheritance
- Hemiplegia / diplegia / hemiparesia / limb palsy
- Hepatitis / icterus / cholestasis
- Hyperlipidemia / hypercholesterolemia / hypertriglyceridemia
- Lymphadenopathy / polyadenopathies
- Splenomegaly
- Storage liver disease



Immunodeficiency due to an early component of complement deficiency

(no data available)