paternal uniparental disomy of chromosome 1
ORPHA: 251004
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 paternal uniparental disomy of chromosome 1, sourced from HPO and Orphanet clinical annotations.
ProteinuriaEnlarged kidneyStrabismusProgressive visual lossPhotophobiaAbnormal dental enamel morphologyMembranoproliferative glomerulonephritisHypertensionDelayed pubertyAnhidrosisSeizureNeonatal hypotoniaMyoclonusCraniosynostosisObesityPolyphagiaRecurrent fracturesHypercalcemiaIncreased blood urea nitrogenShort statureEpisodic hemolytic anemiaPain insensitivityProgressive psychomotor deteriorationDyschromatopsiaMacular dystrophyAbnormal blistering of the skinBrain atrophyMacroscopic hematuriaAbnormal retinal morphology on macular OCT
Classification & Codes
Orphanet Code
ORPHA:251004paternal uniparental disomy of chromosome 1
| Orphanet | ORPHA:251004 |
| Treatments | 0 drug(s) |
| Symptoms on record | 29 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO