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1 OMIM reference -
2 associated genes
10 signs/symptoms
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
No signs/symptoms info
Apolipoprotein A-I deficiency
Rubinstein-Taybi syndrome due to 16p13.3 microdeletion

ABCA1 CREBBP
APOA1


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
ABCA1
(0.72)
CREBBP



Citations in the biomedical literature:


Apolipoprotein A-I deficiency
ABCA1 APOA1
Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
CREBBP



Apolipoprotein A-I deficiency
Rubinstein-Taybi syndrome due to 16p13.3 microdeletion

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

Synonym(s):
(no synonyms)

Classification (Orphanet):
- Inborn errors of metabolism
- Rare endocrine disease
- Rare genetic disease
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare endocrine disease
- Rare eye disease
- Rare genetic disease
- Rare neurologic disease
- Rare oncologic disease
- Rare renal disease

Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

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:
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



Rubinstein-Taybi syndrome due to 16p13.3 microdeletion

(no data available)