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histidinuria due to a renal tubular defect

MeSH: C538321ORPHA: 2158

Contents

  1. 1. Overview
  2. 2. Available Treatments
  3. 3. Clinical Presentation
  4. 4. Classification & Codes

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 histidinuria due to a renal tubular defect, sourced from HPO and Orphanet clinical annotations.

Long philtrumMacrotiaSensorineural hearing impairmentWide nasal bridgeIntellectual disabilityHypoplastic toenailsHypoglycemiaVentriculomegalyCerebral cortical atrophyDelayed skeletal maturationHistidinuriaShort middle phalanx of fingerRounded middle phalanx of fingerImpaired histidine renal tubular absorption

Classification & Codes

MeSH Code

C538321

Orphanet Code

ORPHA:2158
histidinuria due to a renal tubular defect
MeSHC538321
OrphanetORPHA:2158
Treatments0 drug(s)
Symptoms on record14 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO