ODCs

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1 OMIM reference -
1 associated gene
9 signs/symptoms

PROTEIN INTERACTIONS: 1

1 associated gene
No signs/symptoms info

Horizontal gaze palsy with progressive scoliosis

Familial renal amyloidosis due to Apolipoprotein AI variant


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		Familial renal amyloidosis due to Apolipoprotein AI variant
	Synonym(s): - HGPPS - Progressive external ophthalmoplegia and scoliosis		Synonym(s): - Apolipoprotein AI amyloidosis - Familial amyloid nephropathy due to apolipoprotein AI variant - Hereditary amyloid nephropathy due to apolipoprotein AI variant - Hereditary renal amyloidosis due to apolipoprotein AI variant

	Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare eye disease - Rare genetic disease - Rare neurologic disease		Classification (Orphanet): - Rare genetic disease - Rare renal 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: No OMIM references 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
Familial renal amyloidosis due to Apolipoprotein AI variant
(no data available)