hereditary gelsolin amyloidosis
ORPHA: 85448
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 hereditary gelsolin amyloidosis, sourced from HPO and Orphanet clinical annotations.
Abnormality of the eyeDry skinDermatological manifestations of systemic disordersKeratoconjunctivitis siccaLattice corneal dystrophyBilateral ptosisXerostomiaHearing impairmentVisual impairmentCataractAbnormality of the nervous systemEdemaCutis laxaBruising susceptibilityAtaxiaPolyneuropathyDysphagiaMyokymiaDistal peripheral sensory neuropathyReduced visual acuityFacial palsyRegional abnormality of skinArrhythmiaConstrictive median neuropathyCorneal ulcerationProteinuriaGlaucomaOphthalmoparesisSensory neuropathyPruritusDysarthriaCardiomyopathyOrthostatic hypotension due to autonomic dysfunctionDiffuse skin atrophySparse hairSleep apneaBlepharochalasisTongue atrophyAbnormal spleen morphologyDepressionBulbar signsDeficit in phonologic short-term memoryStage 5 chronic kidney diseaseNail dystrophyRespiratory tract infection
Classification & Codes
Orphanet Code
ORPHA:85448hereditary gelsolin amyloidosis
| Orphanet | ORPHA:85448 |
| Treatments | 0 drug(s) |
| Symptoms on record | 45 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO