X-linked Alport syndrome-diffuse leiomyomatosis

Orpha code: 1018OMIM code: 308940

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.

Disease data
Classification

Clinical subtype

Synonyms
Xq22.3 microdeletion syndrome
Zespół mikrodelecji Xq22.3
ORPHA code
1018
OMIM code
308940
ICD10 code
Q87.8
ICD11 code
LD2H.Y

No additional description.

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