Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome
ORPHA: 2072
Overview
Gaucher disease - ophthalmoplegia - cardiovascular calcification is a variant of Gaucher disease, also known as a Gaucher-like disease that is characterized by cardiac involvement
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 Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome, sourced from HPO and Orphanet clinical annotations.
HepatosplenomegalyThrombocytopeniaDecreased beta-glucocerebrosidase levelAortic valve calcificationMitral valve calcificationCalcification of the aortaCorneal opacityElevated circulating glucosylsphingosine concentrationHydrocephalusSensorineural hearing impairmentStrabismusOphthalmoplegiaOculomotor apraxiaIntellectual disabilitySeizureSpastic paraplegiaHyporeflexiaGait disturbanceHyperreflexiaGrowth delayAortic valve stenosisMitral regurgitationVentricular hypertrophyMitral stenosisSplenomegalyPes cavusHallux valgusPancytopeniaAnemiaHypoplasia of the corpus callosumVentriculomegalyPulmonary fibrosisHeadacheSpontaneous, recurrent epistaxisAttention deficit hyperactivity disorderAzoospermiaBrachycephalyPtosisAbnormal saccadic eye movementsSupranuclear gaze palsyPectus excavatumHyperextensible skinCholelithiasisMotor delayHypertoniaEsophageal varixLimb ataxiaPulmonary arterial hypertensionScoliosisThoracolumbar kyphosisAbnormal pulmonary interstitial morphologyBacterial endocarditisOpsoclonusFeeding difficultiesAbnormal temper tantrumsEcchymosisSkin ulcer
Classification & Codes
Orphanet Code
ORPHA:2072Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome
| Orphanet | ORPHA:2072 |
| Treatments | 0 drug(s) |
| Symptoms on record | 57 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO