atypical Gaucher's disease due to saposin c deficiency
ORPHA: 309252
Overview
Gaucher's disease that has material basis in an autosomal recessive mutation of PSAP on chromosome 10q22.1
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Clinical Presentation
Signs and symptoms associated with atypical Gaucher's disease due to saposin c deficiency, sourced from HPO and Orphanet clinical annotations.
HepatosplenomegalySeizureThrombocytopeniaElevated circulating chitotriosidase activityElevated circulating glucosylsphingosine concentrationMicrocephalyHearing impairmentMyopiaOphthalmoplegiaOsteopeniaAtaxiaHypotoniaMyoclonusTremorAbnormal vestibular functionAnemiaEEG abnormalityKyphosis
Classification & Codes
Orphanet Code
ORPHA:309252atypical Gaucher's disease due to saposin c deficiency
| Orphanet | ORPHA:309252 |
| Treatments | 0 drug(s) |
| Symptoms on record | 18 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO