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1 OMIM reference -
2 associated genes
10 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 3
1 OMIM reference -
1 associated gene
8 signs/symptoms
Apolipoprotein A-I deficiency
Congenital atransferrinemia

ABCA1 TF
APOA1


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
APOA1
(0.63)
TF



Citations in the biomedical literature:


Apolipoprotein A-I deficiency
ABCA1 APOA1
Congenital atransferrinemia
TF



Apolipoprotein A-I deficiency
Congenital atransferrinemia

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

Synonym(s):
- Congenital hypotransferrinemia

Classification (Orphanet):
- Inborn errors of metabolism
- Rare endocrine disease
- Rare genetic disease
Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
- Rare hematologic 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:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive

External references:
1 OMIM reference -
1 MeSH reference: D052456
External references:
1 OMIM reference -
1 MeSH reference: C538259


COMMON
SIGNS
- Anaemia
- Autosomal recessive inheritance
- Storage liver disease


Apolipoprotein A-I deficiency
Congenital atransferrinemia

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



Frequent
- Immunodeficiency / increased susceptibility to infections / recurrent infections

Occasional
- Arthritis / synovitis / synovial proliferation
- Hypothyroidy
- Structural anomalies of the cardio-circulatory system
- Structural anomalies of the pancreas