Surfactant Metabolism Dysfunction, Pulmonary, 5; Smdp5

Description

Pulmonary surfactant metabolism dysfunction-5 (SMDP5) is an autosomal recessive lung disorder manifest clinically and pathologically as pulmonary alveolar proteinosis (PAP). PAP is a rare lung disease characterized by the ineffective clearance of surfactant by alveolar macrophages. This results in the accumulation of surfactant-derived lipoproteinaceous material in the alveoli and terminal bronchioles, causing respiratory failure (summary by Greenhill and Kotton, 2009).For a general phenotypic description and a discussion of genetic heterogeneity of pulmonary surfactant metabolism dysfunction, see SMDP1 (OMIM ).

Clinical Features

Phenotypes and symptoms related to Surfactant Metabolism Dysfunction, Pulmonary, 5; Smdp5

  • Respiratory insufficiency
  • Respiratory distress
  • Pneumonia
  • Respiratory failure
  • Dyspnea
  • Abnormal lung morphology
  • Alveolar proteinosis

Incidence and onset information

Not enough data available about incidence and published cases.
No data available about the known clinical features onset.

Alternative names

Surfactant Metabolism Dysfunction, Pulmonary, 5; Smdp5 Is also known as pap due to csf2rb deficiency, csf2rb deficiency, pulmonary alveolar proteinosis 5.

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, 5; Smdp5 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
100 %
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
100 %
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
100 %
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
100 %
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
100 %
Neonatal Respiratory Distress Del/Dup Panel.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia (United States).

SFTPB, SLC7A7, TERC, TERT, NKX2-1, COPA, CSF2RA, CSF2RB, DKC1, ABCA3, FLNA, FOXF1, GATA2, JAG1, MARS, NOTCH2
Specificity
7 %
Genes
100 %
Neonatal Respiratory Distress Seq + Del/ Dup Panel.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia (United States).

SFTPB, SLC7A7, TERC, TERT, NKX2-1, COPA, CSF2RA, CSF2RB, DKC1, ABCA3, FLNA, FOXF1, GATA2, JAG1, MARS, NOTCH2
Specificity
7 %
Genes
100 %
Neonatal Respiratory Distress Seq Analysis.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia (United States).

SFTPB, SLC7A7, TERC, TERT, NKX2-1, COPA, CSF2RA, CSF2RB, DKC1, ABCA3, FLNA, FOXF1, GATA2, JAG1, MARS, NOTCH2
Specificity
7 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Symptoms Checker

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