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Tracheobronchial leiomyomatosis

MedGen UID:
813116
Concept ID:
C3806786
Finding
HPO: HP:0006524

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVTracheobronchial leiomyomatosis

Conditions with this feature

X-linked diffuse leiomyomatosis-Alport syndrome
MedGen UID:
333429
Concept ID:
C1839884
Disease or Syndrome
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.

Recent clinical studies

Diagnosis

Sousa RG, Figueiredo PC, Pinto-Marques P, Meira T, Novais LA, Vieira AI, Luz C, Borralho P, Freitas J
Eur J Gastroenterol Hepatol 2013 Nov;25(11):1352-7. doi: 10.1097/MEG.0b013e328361dd17. PMID: 23765124
Anker MC, Arnemann J, Neumann K, Ahrens P, Schmidt H, König R
Am J Med Genet A 2003 Jun 15;119A(3):381-5. doi: 10.1002/ajmg.a.20019. PMID: 12784310
Pujol J, Parés D, Mora L, Sans M, Jaurrieta E
Dis Esophagus 2000;13(2):169-71. doi: 10.1046/j.1442-2050.2000.00107.x. PMID: 14601911
Sans N, Galy-Fourcade D, Bloom E, Pradère B, Chiavassa H, Jarlaud T, Queralto M, Giron J, Gouzi JL, Railhac JJ
Eur Radiol 2000;10(1):134-8. doi: 10.1007/s003300050019. PMID: 10663730

Prognosis

Anker MC, Arnemann J, Neumann K, Ahrens P, Schmidt H, König R
Am J Med Genet A 2003 Jun 15;119A(3):381-5. doi: 10.1002/ajmg.a.20019. PMID: 12784310
Pujol J, Parés D, Mora L, Sans M, Jaurrieta E
Dis Esophagus 2000;13(2):169-71. doi: 10.1046/j.1442-2050.2000.00107.x. PMID: 14601911

Clinical prediction guides

Anker MC, Arnemann J, Neumann K, Ahrens P, Schmidt H, König R
Am J Med Genet A 2003 Jun 15;119A(3):381-5. doi: 10.1002/ajmg.a.20019. PMID: 12784310
Pujol J, Parés D, Mora L, Sans M, Jaurrieta E
Dis Esophagus 2000;13(2):169-71. doi: 10.1046/j.1442-2050.2000.00107.x. PMID: 14601911

Supplemental Content

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