Surfactant Metabolism Dysfunction, Pulmonary, 5; Smdp5

Table of contents:

Description
Related genes
Clinical Features
Incidence and onset information
Alternative Names
Researches and researchers
Gene Panels
Sources and references

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 ).

Genes related to Surfactant Metabolism Dysfunction, Pulmonary, 5; Smdp5

CSF2RB

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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

— 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, 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.

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 Panel complete gene list RPGR, SCNN1A, SCNN1B, SCNN1G, BMPR1B, BMPR2, SFTPA1, SFTPA2, SFTPB, SFTPC, SFTPD, SLC7A7, SPAG1, STAT3, TERC, TERT, TINF2, NKX2-1, TSC1, TSC2, RSPH1, CFAP298, CAV1, HPS3, HPS4, RTEL1, NME8, LRRC6, HPS5, DTNBP1, ACVRL1, INVS, CENPF, CCNO, DNAI2, HPS6, CFTR, DOCK8, ZMYND10, DNAAF2, BLOC1S3, RSPH3, RSPH9, DNAAF4, RSPH4A, DNAL1, DRC1, CSF2RA, CSF2RB, CCDC39, TTC25, ARMC4, OFD1, DNAAF5, CCDC40, CCDC114, FLCN, ELMOD2, CCDC151, DKC1, DNAH1, DNAH11, DNAH5, DNAH8, DNAI1, CCDC65, DNAAF3, DNAAF1, DNAJB13, EDN3, EFEMP2, CCDC103, ABCA3, ELN, ENG, FBLN5, FOXF1, MCIDAS, GAS8, GDF2, ALMS1, HPS1, AP3B1, KCNA5, KCNK3, LTBP4, SMAD4, SMAD9, MUC5B, BLOC1S6, PARN, SERPINA1, PHOX2B 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 Panel complete gene list RPGR, BDNF, SCNN1A, SCNN1B, SCNN1G, BMPR2, SFTPA1, SFTPA2, SFTPB, SFTPC, SFTPD, STAT3, TERC, TERT, NKX2-1, TSC1, TSC2, RSPH1, HPS3, HPS4, NME8, HPS5, DTNBP1, ACVRL1, DNAI2, HPS6, CFTR, DOCK8, DNAAF2, BLOC1S3, RSPH9, RSPH4A, DNAL1, CSF2RA, CSF2RB, CCDC39, CCDC40, FLCN, ELMOD2, DNAH11, DNAH5, DNAI1, DNAAF1, EDN3, EFEMP2, ABCA3, ELN, ENG, FBLN5, FBN1, FOXF1, GDNF, HPS1, HRAS, AP3B1, LTBP4, SMAD9, ASCL1, MUC5B, NF1, BLOC1S6, SERPINA1, PHOX2B, RET 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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