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1 OMIM reference -
2 associated genes
10 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1
1 OMIM reference -
1 associated gene
9 signs/symptoms
Apolipoprotein A-I deficiency
Horizontal gaze palsy with progressive scoliosis

ABCA1 ROBO3
APOA1


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
APOA1
(0.72)
ROBO3



Citations in the biomedical literature:


Apolipoprotein A-I deficiency
ABCA1 APOA1
Horizontal gaze palsy with progressive scoliosis
ROBO3



Apolipoprotein A-I deficiency
Horizontal gaze palsy with progressive scoliosis

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

Synonym(s):
- HGPPS
- Progressive external ophthalmoplegia and scoliosis

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

Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Classification (ICD10):
- Diseases of the eye and adnexa -

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


COMMON
SIGNS
- Autosomal recessive inheritance


Apolipoprotein A-I deficiency
Horizontal gaze palsy with progressive scoliosis

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



Very frequent
- Kyphosis
- Ophthalmoplegia / ophthalmoparesis / oculomotor palsy
- Scoliosis

Frequent
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Nystagmus
- Short neck

Occasional
- Seizures / epilepsy / absences / spasms / status epilepticus
- Sensorineural deafness / hearing loss