ODCs

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

PROTEIN INTERACTIONS: 1

1 OMIM reference -
1 associated gene
12 signs/symptoms

Atypical Gaucher disease due to saposin C deficiency

Pierson syndrome


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	PSAP	(0.63)	LAMB2

Citations in the biomedical literature:

Atypical Gaucher disease due to saposin C deficiency		Pierson syndrome
	Synonym(s): (no synonyms)		Synonym(s): - Microcoria - congenital nephrosis

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

	Classification (ICD10): - Endocrine, nutritional and metabolic diseases -		Classification (ICD10): - Diseases of the genitourinary system -

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

	External references: 1 OMIM reference - No MeSH references		External references: 1 OMIM reference - 1 MeSH reference: C537185

Pierson syndrome
	Very frequent - Autosomal recessive inheritance - Cataract / lens opacification - Chronic arterial hypertension - EEG anomalies - Hematuria / microhematuria - Hemiplegia / diplegia / hemiparesia / limb palsy - Hypotonia - Movement disorder - Nephrotic syndrome - Nystagmus - Proteinuria Frequent - Micropenis / small penis / agenesis
Atypical Gaucher disease due to saposin C deficiency
(no data available)