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1 OMIM reference -
2 associated genes
10 signs/symptoms
PROTEIN INTERACTIONS: 1
1 OMIM reference -
6 associated genes
No signs/symptoms info
Apolipoprotein A-I deficiency
Progressive non-fluent aphasia

ABCA1 C9ORF72
APOA1 CHMP2B
GRN
MAPT
PSEN1
VCP


INTERACTOME
ASSOCIATIONS

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



Citations in the biomedical literature:


Apolipoprotein A-I deficiency
ABCA1 APOA1
Progressive non-fluent aphasia
C9ORF72 CHMP2B GRN MAPT PSEN1 VCP



Apolipoprotein A-I deficiency
Progressive non-fluent aphasia

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

Synonym(s):
- Agramatic variant of PPA
- Agramatic variant of primary progressive aphasia
- Non-fluent variant PPA

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

Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Classification (ICD10):
- Diseases of the nervous system -

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: 1-9 / 100 000
Average age onset: adulthood
Average age of death: -
Type of inheritance: multigenic/multifactorial

External references:
1 OMIM reference -
1 MeSH reference: D052456
External references:
1 OMIM reference -
1 MeSH reference: D057178

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



Progressive non-fluent aphasia

(no data available)