cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome
MeSH: C548016ORPHA: 309854
Overview
human disease
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 cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome, sourced from HPO and Orphanet clinical annotations.
Hypomimic faceDysarthriaHypertoniaGait disturbanceDystoniaAbnormality of the liverPortal hypertensionMicronodular cirrhosisSplenomegalyPolycythemiaEsophageal varixRigidityBradykinesiaDysdiadochokinesisPostural instabilityHepatomegalyAction tremorAbnormal globus pallidus morphologyElevated circulating hepatic transaminase concentrationPeripheral neuropathyAbnormal blood inorganic cation concentrationAbnormal myelinationAbnormal basal ganglia MRI signal intensityAbnormal transferrin saturationMicrocephalyJaundiceHypertrophic cardiomyopathyAbnormality of coagulationTruncal ataxiaHyperglycinemiaSpastic paraparesisAstrocytosisAbnormality of amino acid metabolismPoor fine motor coordinationProlonged prothrombin timeDecreased circulating ferritin concentrationIncreased total iron binding capacityCopper accumulation in liverDecreased circulating vitamin E concentration
Classification & Codes
MeSH Code
C548016Orphanet Code
ORPHA:309854cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome
| MeSH | C548016 |
| Orphanet | ORPHA:309854 |
| Treatments | 0 drug(s) |
| Symptoms on record | 39 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO