Hartnup disease
MeSH: D006250ORPHA: 2116
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 Hartnup disease, sourced from HPO and Orphanet clinical annotations.
Emotional labilityHallucinationsAnxietyCutaneous photosensitivityAtaxiaHypotoniaHyperreflexiaMigraineEEG abnormalityNeutral hyperaminoaciduriaAbnormal urinary colorStrabismusAbnormality of visionPhotophobiaNystagmusSkin rashTremorMalabsorptionElevated urinary indican levelGlossitisGingivitisPsychosisHypopigmented skin patchesIntellectual disabilitySeizureGlobal developmental delayInfectious encephalitisShort statureIrregular hyperpigmentationAbnormal blistering of the skin
Classification & Codes
MeSH Code
D006250Orphanet Code
ORPHA:2116Hartnup disease
| MeSH | D006250 |
| Orphanet | ORPHA:2116 |
| Treatments | 0 drug(s) |
| Symptoms on record | 30 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO