ODCs

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1 OMIM reference -
1 associated gene
13 signs/symptoms

PROTEIN INTERACTIONS: 1

1 OMIM reference -
1 associated gene
No signs/symptoms info

Gaucher disease - ophthalmoplegia - cardiovascular calcification

Atypical Gaucher disease due to saposin C deficiency


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	GBA	(0.63)	PSAP

Citations in the biomedical literature:

Gaucher disease - ophthalmoplegia - cardiovascular calcification		Atypical Gaucher disease due to saposin C deficiency
	Synonym(s): - Cardiovascular Gaucher disease - Gaucher disease type 3C - Gaucher-like disease		Synonym(s): (no synonyms)

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

	Classification (ICD10): - Endocrine, nutritional and metabolic diseases -		Classification (ICD10): - Endocrine, nutritional and metabolic diseases -

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

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

Gaucher disease - ophthalmoplegia - cardiovascular calcification
	Very frequent - Abnormal eye movements / oculomotor disorder - Aortic arches anomalies - Aortic valve atresia / stenosis / narrowing / supra-aortic / supra-valvular stenosis - Autosomal recessive inheritance - Cardiac valvulopathy - Mitral valve atresia / stenosis / narrowing - Ophthalmoplegia / ophthalmoparesis / oculomotor palsy - Splenomegaly Frequent - Hearing loss / hypoacusia / deafness - Hydrocephaly - Hypertonia / spasticity / rigidity / stiffness - Seizures / epilepsy / absences / spasms / status epilepticus Occasional - Heart / cardiac failure
Atypical Gaucher disease due to saposin C deficiency
(no data available)