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Summary
SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 2 SMDP2
INTERSTITIAL LUNG DISEASE DUE TO SURFACTANT PROTEIN C DEFICIENCY
610913
OMIM = Online Medalian Inheritance of Men
440392
8p21.3
rare
autosomal dominant
mutation in the gene encoding surfactant protein C (SFTPC)
symptoms
cyanosis
failure to thrive
onset, infancy
onset, variable age
poor weight gain
respiratory distress
tachypnea, hyperpnea, dyspnea, respiratory distress
laboratory finding
X-ray (chest, lung) abnormal
Literature
Leao-Teles E,et al.De Barsy syndrome and ATP6V0A2-CDGEur J Hum Genet1855262010
Jaeken J,Lefeber DJ, Matthijs GClinical utility gene card for: MAN1B1 defective congenital disorder of glycosylationEur J Hum Genet702016
Udono M,et al.Impaired ATP6V0A2 expression contributes to Golgi dispersion and glycosylation changes in senescent cellsSci Rep50173422015
Anikster Yet al.Ocular nonnephropathic cystinosis: clinical, biochemical, and molecular correlationsPediatr Res47117-232000
Ritelli M,et al.Identification of two novel ATP6V0A2 mutations in an infant with cutis laxa by exome sequencingJ Dermatol Sci75166-682014
Thoene JGIntroduction to Extra-Renal Complications of CystinosisJ Pediatr1830S12017
Morava E,et al.Autosomal recessive cutis laxa syndrome revisitedEur J Hum Genet1791099-11102009
Fischer B,et al.Further characterization of ATP6V0A2-related autosomal recessive cutis laxaHum Genet131111761-17732012