Surfactant Metabolism Dysfunction, Pulmonary, 4; Smdp4

Description

Pulmonary alveolar proteinosis (PAP) is a rare lung disorder in which surfactant-derived lipoproteins accumulate excessively within pulmonary alveoli, causing severe respiratory distress. Three forms of PAP have been described: hereditary (usually congenital), secondary, and acquired. Hereditary PAP is associated with mutations in the CSF2RA gene or in genes encoding surfactant proteins. Secondary PAP develops in conditions in which there are reduced numbers or functional impairment of alveolar macrophages and is associated with inhalation of inorganic dust (silica) or toxic fumes, hematologic malignancies, pharmacologic immunosuppression, infections, and impaired CSF2RB (OMIM ) expression. Acquired PAP (OMIM ), the most common form, usually occurs in adults and is caused by neutralizing autoantibodies to CSF2 (OMIM ) (Martinez-Moczygemba et al., 2008).For a general phenotypic description and a discussion of genetic heterogeneity of congenital pulmonary surfactant metabolism dysfunction, see SMDP1 (OMIM ).

Clinical Features

Top most frequent phenotypes and symptoms related to Surfactant Metabolism Dysfunction, Pulmonary, 4; Smdp4

  • Growth delay
  • Failure to thrive
  • Respiratory insufficiency
  • Respiratory distress
  • Pneumonia
  • Respiratory failure
  • Tachycardia
  • Abnormal lung morphology
  • Tachypnea
  • Restrictive ventilatory defect

And another 4 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
No data available about the known clinical features onset.

Alternative names

Surfactant Metabolism Dysfunction, Pulmonary, 4; Smdp4 Is also known as pulmonary alveolar proteinosis, congenital, 4, csf2ra deficiency, pap due to csf2ra deficiency.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.


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Surfactant Metabolism Dysfunction, Pulmonary, 4; Smdp4 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Comprehensive Pulmonary Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).

RPGR, SCNN1A, SCNN1B, SCNN1G, BMPR1B, BMPR2, SFTPA1, SFTPA2, SFTPB, SFTPC, SFTPD, SLC7A7, SPAG1, STAT3, TERC, TERT, TINF2, NKX2-1, TSC1, TSC2 , (...)

View the complete list with 73 more genes
Specificity
2 %
Genes
50 %
Hermansky-Pudlak and Pulmonary Fibrosis Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).

SFTPA1, SFTPA2, SFTPB, SFTPC, SFTPD, TERC, TERT, TINF2, NKX2-1, HPS3, HPS4, RTEL1, HPS5, DTNBP1, HPS6, BLOC1S3, CSF2RA, ELMOD2, DKC1, ABCA3 , (...)

View the complete list with 5 more genes
Specificity
4 %
Genes
50 %
Surfactant Dysfunction and Respiratory Distress in Premature Infants Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).

SFTPB, SFTPC, SLC7A7, NKX2-1, CSF2RA, CSF2RB, ABCA3, FOXF1
Specificity
13 %
Genes
50 %
Diffuse Lung Disease NGS Panel.

By Johns Hopkins DNA Diagnostic Laboratory Johns Hopkins Hospital (United States).

SFTPA2, SFTPB, SFTPC, SLC7A7, TERC, TERT, TINF2, NKX2-1, HPS4, CSF2RA, CSF2RB, DKC1, ABCA3, FOXF1, HPS1, AP3B1
Specificity
7 %
Genes
50 %
Pulmonary Alveolar Proteinosis NGS Panel.

By Johns Hopkins DNA Diagnostic Laboratory Johns Hopkins Hospital (United States).

SFTPB, SFTPC, SLC7A7, NKX2-1, CSF2RA, CSF2RB, ABCA3, FOXF1
Specificity
13 %
Genes
50 %
Basic Fibrosis Panel (12 Genes).

By Laboratory for Molecular Medicine Partners HealthCare Personalized Medicine (United States).

SFTPA1, SFTPA2, SFTPB, SFTPC, SFTPD, TERC, TERT, NKX2-1, CSF2RA, ELMOD2, ABCA3, MUC5B
Specificity
9 %
Genes
50 %
PulmoGene Panel (64 Genes).

By Laboratory for Molecular Medicine Partners HealthCare Personalized Medicine (United States).

RPGR, BDNF, SCNN1A, SCNN1B, SCNN1G, BMPR2, SFTPA1, SFTPA2, SFTPB, SFTPC, SFTPD, STAT3, TERC, TERT, NKX2-1, TSC1, TSC2, RSPH1, HPS3, HPS4 , (...)

View the complete list with 44 more genes
Specificity
2 %
Genes
50 %
Pulmonary Fibrosis - Hermansky Pudlak Panel (21 Genes).

By Laboratory for Molecular Medicine Partners HealthCare Personalized Medicine (United States).

SFTPA1, SFTPA2, SFTPB, SFTPC, SFTPD, TERC, TERT, NKX2-1, HPS3, HPS4, HPS5, DTNBP1, HPS6, BLOC1S3, CSF2RA, ELMOD2, ABCA3, HPS1, AP3B1, MUC5B , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
50 %

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Sources and references

You can check the following sources for additional information.

MESH OMIM Genetic Syndrome Finder

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