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1 OMIM reference -
1 associated gene
9 signs/symptoms
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
No signs/symptoms info
Horizontal gaze palsy with progressive scoliosis
Primary systemic amyloidosis

ROBO3 APOA1


INTERACTOME
ASSOCIATIONS

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



Citations in the biomedical literature:


Horizontal gaze palsy with progressive scoliosis
ROBO3
Primary systemic amyloidosis
APOA1



Horizontal gaze palsy with progressive scoliosis
Primary systemic amyloidosis

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

Synonym(s):
- Systemic AL amyloidosis
- Systemic immunoglobulinic amyloidosis

Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare cardiac disease
- Rare genetic disease
- Rare hematologic disease
- Rare neurologic disease
- Rare oncologic disease
- Rare renal disease
- Rare systemic or rheumatologic disease

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

Epidemiological data:
(no data available)
Epidemiological data:
(no data available)

External references:
1 OMIM reference -
No MeSH references
External references:
1 OMIM reference -
No MeSH references

Horizontal gaze palsy with progressive scoliosis

Very frequent
- Autosomal recessive inheritance
- 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


Primary systemic amyloidosis

(no data available)