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1 OMIM reference -
2 associated genes
10 signs/symptoms
PROTEIN INTERACTIONS: 1
1 OMIM reference -
2 associated genes
No signs/symptoms info
Apolipoprotein A-I deficiency
Recurrent infections associated with rare immunoglobulin isotypes deficiency

ABCA1 IGHG2
APOA1 IGKC


INTERACTOME
ASSOCIATIONS

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



Citations in the biomedical literature:


Apolipoprotein A-I deficiency
ABCA1 APOA1
Recurrent infections associated with rare immunoglobulin isotypes deficiency
IGHG2 IGKC



Apolipoprotein A-I deficiency
Recurrent infections associated with rare immunoglobulin isotypes deficiency

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

Synonym(s):
- IgG subclass deficiency with IgA subclass deficiency
- Isolated IgG subclass deficiency
- Kappa-chain deficiency
- Selective IgG subclass 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):
(no data available)

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:
Class of prevalence: unknown
Average age onset: childhood
Average age of death: normal
Type of inheritance: unknown

External references:
1 OMIM reference -
1 MeSH reference: D052456
External references:
1 OMIM reference -
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



Recurrent infections associated with rare immunoglobulin isotypes deficiency

(no data available)