DISEASE: Cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities
Entry
H00904 Disease
Name
Cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities; Urban-Rifkin-Davis syndrome
Description
Cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities or Urban-Rifkin-Davis syndrome is a disorder affecting pulmonary, gastrointestinal, urinary, musculoskeletal, craniofacial, and dermal development. Respiratory distress with cystic and atelectatic changes in the lungs could be fatal in this disease. Mutations in LTBP4 lead to lack of deposition of LTBP4 into the extracellular matrix and results in increased activity of transforming growth factor-beta.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
Multiple developmental anomalies or syndromes
LD28 Syndromes with connective tissue involvement as a major feature
H00904 Cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities
Urban Z, Hucthagowder V, Schurmann N, Todorovic V, Zilberberg L, Choi J, Sens C, Brown CW, Clark RD, Holland KE, Marble M, Sakai LY, Dabovic B, Rifkin DB, Davis EC
Title
Mutations in LTBP4 cause a syndrome of impaired pulmonary, gastrointestinal, genitourinary, musculoskeletal, and dermal development.
Sterner-Kock A, Thorey IS, Koli K, Wempe F, Otte J, Bangsow T, Kuhlmeier K, Kirchner T, Jin S, Keski-Oja J, von Melchner H
Title
Disruption of the gene encoding the latent transforming growth factor-beta binding protein 4 (LTBP-4) causes abnormal lung development, cardiomyopathy, and colorectal cancer.
