U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Absent bronchoalveolar surfactant-protein C

MedGen UID:
1714480
Concept ID:
C5397972
Finding
HPO: HP:0032980

Definition

Significantly decreased level or failed detection of surfactant protein C in broncho-alveolar lavage fluid. Comment [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAbsent bronchoalveolar surfactant-protein C

Conditions with this feature

Interstitial lung disease due to ABCA3 deficiency
MedGen UID:
410074
Concept ID:
C1970456
Disease or Syndrome
For a general phenotypic description and a discussion of genetic heterogeneity of pulmonary surfactant metabolism dysfunction, see SMDP1 (265120).
Surfactant metabolism dysfunction, pulmonary, 2
MedGen UID:
410078
Concept ID:
C1970470
Disease or Syndrome
Pulmonary surfactant metabolism dysfunction-2 (SMDP2) is a rare autosomal dominant disease associated with progressive respiratory insufficiency and lung disease with a variable clinical course. The pathophysiology of the disorder is postulated to involve intracellular accumulation of a structurally defective SPC protein (Thomas et al., 2002). For a general phenotypic description and a discussion of genetic heterogeneity of pulmonary surfactant metabolism dysfunction, see SMDP1 (265120).

Recent clinical studies

Therapy

Hamvas A, Cole FS, deMello DE, Moxley M, Whitsett JA, Colten HR, Nogee LM
J Pediatr 1994 Sep;125(3):356-61. doi: 10.1016/s0022-3476(05)83276-7. PMID: 8071741

Prognosis

Hamvas A, Cole FS, deMello DE, Moxley M, Whitsett JA, Colten HR, Nogee LM
J Pediatr 1994 Sep;125(3):356-61. doi: 10.1016/s0022-3476(05)83276-7. PMID: 8071741

Clinical prediction guides

Griese M, Lorenz E, Hengst M, Schams A, Wesselak T, Rauch D, Wittmann T, Kirchberger V, Escribano A, Schaible T, Baden W, Schulze J, Krude H, Aslanidis C, Schwerk N, Kappler M, Hartl D, Lohse P, Zarbock R
Pediatr Res 2016 Jan;79(1-1):34-41. Epub 2015 Sep 16 doi: 10.1038/pr.2015.173. PMID: 26375475

Supplemental Content

Table of contents

    Clinical resources

    Consumer resources

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...