X-linked diffuse leiomyomatosis-Alport syndrome
MeSH: C537113ORPHA: 1018
Overview
The association of X-linked Alport syndrome with leiomyomatosis of the esophagus, tracheobronchial tree or female genitals has been reported in more than 30 families
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 X-linked diffuse leiomyomatosis-Alport syndrome, sourced from HPO and Orphanet clinical annotations.
DysphagiaAbnormal esophagus morphologyAbnormal gastrointestinal tract morphologyEsophageal neoplasmProteinuriaNephropathySensorineural hearing impairmentAbnormality of the eyeCataractHematuriaFailure to thriveVomitingGastroesophageal refluxAchalasiaAnti-smooth muscle antibody positivityDiffuse leiomyomatosisAbnormality of the female genitaliaChronic kidney diseaseChest painHypoperistalsisDyspepsiaKeratitisMyopiaWeight lossDyspneaRecurrent respiratory infectionsStage 5 chronic kidney diseaseTracheobronchial leiomyomatosisEsophageal stenosisFibromaUterine neoplasmAnterior lenticonusAspiration pneumoniaAbnormal respiratory system morphologyCoughVulvar neoplasmPrecordial painNasogastric tube feedingVaginal neoplasm
Classification & Codes
MeSH Code
C537113Orphanet Code
ORPHA:1018X-linked diffuse leiomyomatosis-Alport syndrome
| MeSH | C537113 |
| Orphanet | ORPHA:1018 |
| Treatments | 0 drug(s) |
| Symptoms on record | 39 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO