ODCs

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1 OMIM reference -
1 associated gene
9 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1

1 OMIM reference -
2 associated genes
10 signs/symptoms

Horizontal gaze palsy with progressive scoliosis

Apolipoprotein A-I deficiency

ROBO3	(UniProt - OMIM)		ABCA1	(UniProt - OMIM)
			APOA1	(UniProt - OMIM)


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		Apolipoprotein A-I deficiency
	Synonym(s): - HGPPS - Progressive external ophthalmoplegia and scoliosis		Synonym(s): - ApoA-I deficiency - Familial apoA-I deficiency - Familial hypoalphalipoproteinemia

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

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

	Epidemiological data: (no data available)		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: variable Average age of death: any age Type of inheritance: autosomal dominant

	External references: 1 OMIM reference - No MeSH references		External references: 1 OMIM reference - 1 MeSH reference: D052456


COMMON SIGNS	- Autosomal recessive inheritance

Horizontal gaze palsy with progressive scoliosis		Apolipoprotein A-I deficiency
	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		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