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Apolipoprotein A-I deficiency
1 OMIM reference -
2 associated genes
10 signs/symptoms
PROTEIN INTERACTIONS: 1
Hereditary combined deficiency of vitamin K-dependent clotting factors
2 OMIM references -
2 associated genes
No signs/symptoms info
Apolipoprotein A-I deficiency
Hereditary combined deficiency of vitamin K-dependent clotting factors

ABCA1
(UniProt - OMIM)
 GGCX
(UniProt - OMIM)
APOA1
(UniProt - OMIM)
 VKORC1
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
APOA1
(0.63)
VKORC1


Citations in the biomedical literature:


Apolipoprotein A-I deficiency
ABCA1 APOA1
Hereditary combined deficiency of vitamin K-dependent clotting factors
GGCX VKORC1



Apolipoprotein A-I deficiency
Hereditary combined deficiency of vitamin K-dependent clotting factors

Synonym(s):
- ApoA-I deficiency
- Familial apoA-I deficiency
- Familial hypoalphalipoproteinemia
Synonym(s):
- Hereditary combined deficiency of factors II, VII, IX and X
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:
2 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



Hereditary combined deficiency of vitamin K-dependent clotting factors

(no data available)