X-linked diffuse leiomyomatosis-Alport syndrome
Findings
No curated finding names X-linked diffuse leiomyomatosis-Alport syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A rare renal disease characterized by the association of X-linked Alport syndrome (glomerular nephropathy, sensorineural deafness and ocular anomalies) and benign proliferation of visceral smooth muscle cells along the gastrointestinal, respiratory, and female genital tracts and clinically manifests with dysphagia, dyspnea, cough, stridor, postprandial vomiting, retrosternal or epigastric pain, recurrent pneumonia, and clitoral hypertrophy in females.
Definition from the Mondo Disease Ontology (MONDO:0010641), read 2026-09-29. CC BY 4.0.
- Inheritance
- X-linked inheritance
- Onset and course
- Juvenile onset · Late young adult onset
HPO, annotations 2026-09-02
Features
42 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Renal insufficiencyHPOHP:0000083
- 4 of 4 reported patients · Adult onset
- Abnormal esophagus morphologyHPOHP:0002031
- Very frequent (80% to 99% of cases)
- Abnormal gastrointestinal tract morphologyHPOHP:0012718
- Very frequent (80% to 99% of cases)
- DysphagiaHPOHP:0002015
- Very frequent (80% to 99% of cases)
- Esophageal neoplasmHPOHP:0100751
- Very frequent (80% to 99% of cases)
Where it sits
- Narrower terms (1)
Other names
1 name
Resolves to: X-linked diffuse leiomyomatosis-Alport syndrome
- Also called
- Xq22.3 microdeletion syndrome