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Leiomyomatosis, esophageal and vulval, with nephropathy(DL-ATS)

MedGen UID:
333429
Concept ID:
C1839884
Disease or Syndrome
Synonyms: ALPORT SYNDROME AND DIFFUSE LEIOMYOMATOSIS; Alport syndrome with diffuse leiomyomatosis; CHROMOSOME Xq22.3 CENTROMERIC DELETION SYNDROME; Diffuse leiomyomatosis in Alport syndrome; DL-ATS
Modes of inheritance:
X-linked inheritance
MedGen UID:
66838
Concept ID:
C0241764
Genetic Function
 
OMIM®: 308940

Clinical features

Failure to thrive
MedGen UID:
776583
Concept ID:
C2364119
Finding
Diffuse leiomyomatosis
MedGen UID:
446783
Concept ID:
CN005882
Finding
Hematuria
MedGen UID:
5488
Concept ID:
C0018965
Finding
A disorder characterized by laboratory test results that indicate blood in the urine.
Proteinuria
MedGen UID:
10976
Concept ID:
C0033687
Finding
abnormal presence of protein in urine
Diffuse glomerular basement membrane lamellation
MedGen UID:
479937
Concept ID:
C3278307
Finding
Nephropathy
MedGen UID:
504346
Concept ID:
CN000110
Finding
A nonspecific term referring to disease or damage of the kidneys.
Stage 5 chronic kidney disease
MedGen UID:
505594
Concept ID:
CN003407
Finding
A degree of kidney failure severe enough to require dialysis or kidney transplantation for survival characterized by a severe reduction in glomerular filtration rate (less than 15 ml/min/1.73 m2) and other manifestations including increased serum creatinine.
Thickening of the glomerular basement membrane
MedGen UID:
505670
Concept ID:
CN004176
Finding
Increase in thickness of the basal lamina of the glomerulus of the kidney.
Cataract
MedGen UID:
368085
Concept ID:
C1962983
Finding
Anterior lenticonus
MedGen UID:
506581
Concept ID:
CN167229
Finding
A conical projection of the anterior surface of the lens, occurring as a developmental anomaly.
High-frequency sensorineural hearing impairment
MedGen UID:
427892
Concept ID:
CN001598
Finding
A form of sensorineural hearing impairment that affects primarily the higher frequencies.
Dysphagia
MedGen UID:
342867
Concept ID:
C1853381
Finding
Dysphagia
MedGen UID:
342867
Concept ID:
C1853381
Finding
Constipation
MedGen UID:
368096
Concept ID:
C1963087
Finding
Vomiting
MedGen UID:
776588
Concept ID:
C2712332
Finding
Hematuria
MedGen UID:
5488
Concept ID:
C0018965
Finding
A disorder characterized by laboratory test results that indicate blood in the urine.
Proteinuria
MedGen UID:
10976
Concept ID:
C0033687
Finding
abnormal presence of protein in urine
Dyspnea
MedGen UID:
505099
Concept ID:
CN001895
Finding
Difficult or labored breathing.
Tracheobronchial leiomyomatosis
MedGen UID:
446764
Concept ID:
CN005683
Finding

Recent clinical studies

Diagnosis

Oohashi T, Naito I, Ueki Y, Yamatsuji T, Permpoon R, Tanaka N, Naomoto Y, Ninomiya Y
Matrix Biol 2011 Jan;30(1):3-8. Epub 2010 Oct 14 doi: 10.1016/j.matbio.2010.09.003. [Epub ahead of print] PMID: 20951201

Therapy

Burgos R, Muñiz E, Rosa ER, Olivares CJ, Romaguera J
P R Health Sci J 2013 Dec;32(4):200-2. PMID: 24397218

Prognosis

Burgos R, Muñiz E, Rosa ER, Olivares CJ, Romaguera J
P R Health Sci J 2013 Dec;32(4):200-2. PMID: 24397218

Clinical prediction guides

Sá MJ, Fieremans N, de Brouwer AP, Sousa R, e Costa FT, Brito MJ, Carvalho F, Rodrigues M, de Sousa FT, Felgueiras J, Neves F, Carvalho A, Ramos U, Vizcaíno JR, Alves S, Carvalho F, Froyen G, Oliveira JP
J Med Genet 2013 Nov;50(11):745-53. Epub 2013 Aug 19 doi: 10.1136/jmedgenet-2013-101670. [Epub ahead of print] PMID: 23958657
Oohashi T, Naito I, Ueki Y, Yamatsuji T, Permpoon R, Tanaka N, Naomoto Y, Ninomiya Y
Matrix Biol 2011 Jan;30(1):3-8. Epub 2010 Oct 14 doi: 10.1016/j.matbio.2010.09.003. [Epub ahead of print] PMID: 20951201

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