SMDP5
MCID: SRF007
MIFTS: 24

Surfactant Metabolism Dysfunction, Pulmonary, 5 (SMDP5)

Categories: Genetic diseases, Metabolic diseases, Rare diseases, Respiratory diseases

Aliases & Classifications for Surfactant Metabolism Dysfunction, Pulmonary, 5

MalaCards integrated aliases for Surfactant Metabolism Dysfunction, Pulmonary, 5:

Name: Surfactant Metabolism Dysfunction, Pulmonary, 5 57 29 13 6 70
Pulmonary Alveolar Proteinosis 5 57 72
Pap Due to Csf2rb Deficiency 57 72
Csf2rb Deficiency 57 72
Smdp5 57 72
Surfactant Metabolism Dysfunction, Pulmonary, Type 5 39
Pulmonary Surfactant Metabolism Dysfunction 5 72
Pap5 72

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

Miscellaneous:
onset at age 36 years
two unrelated patients with pathogenic csf2rb mutations have been reported (last curated december 2014)
four unrelated infants with the disorder and decreased expression of csf2rb in cells have been reported


HPO:

31
surfactant metabolism dysfunction, pulmonary, 5:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM® 57 614370
OMIM Phenotypic Series 57 PS265120
MeSH 44 D011649
MedGen 41 C3280574
UMLS 70 C3280574

Summaries for Surfactant Metabolism Dysfunction, Pulmonary, 5

OMIM® : 57 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 (265120). (614370) (Updated 20-May-2021)

MalaCards based summary : Surfactant Metabolism Dysfunction, Pulmonary, 5, also known as pulmonary alveolar proteinosis 5, is related to pulmonary alveolar proteinosis and hereditary pulmonary alveolar proteinosis, and has symptoms including dyspnea An important gene associated with Surfactant Metabolism Dysfunction, Pulmonary, 5 is CSF2RB (Colony Stimulating Factor 2 Receptor Subunit Beta). Affiliated tissues include lung, and related phenotypes are exertional dyspnea and ground-glass opacification on pulmonary hrct

UniProtKB/Swiss-Prot : 72 Pulmonary surfactant metabolism dysfunction 5: A rare lung disorder due to impaired surfactant homeostasis. It is characterized by alveolar filling with floccular material that stains positive using the periodic acid-Schiff method and is derived from surfactant phospholipids and protein components. Excessive lipoproteins accumulation in the alveoli results in severe respiratory distress.

Related Diseases for Surfactant Metabolism Dysfunction, Pulmonary, 5

Diseases in the Surfactant Metabolism Dysfunction, Pulmonary, 1 family:

Surfactant Metabolism Dysfunction, Pulmonary, 4 Surfactant Metabolism Dysfunction, Pulmonary, 2
Surfactant Metabolism Dysfunction, Pulmonary, 3 Surfactant Metabolism Dysfunction, Pulmonary, 5

Diseases related to Surfactant Metabolism Dysfunction, Pulmonary, 5 via text searches within MalaCards or GeneCards Suite gene sharing:

(showing 2, show less)
# Related Disease Score Top Affiliating Genes
1 pulmonary alveolar proteinosis 10.0
2 hereditary pulmonary alveolar proteinosis 10.0

Symptoms & Phenotypes for Surfactant Metabolism Dysfunction, Pulmonary, 5

Human phenotypes related to Surfactant Metabolism Dysfunction, Pulmonary, 5:

31 (showing 5, show less)
# Description HPO Frequency HPO Source Accession
1 exertional dyspnea 31 very rare (1%) HP:0002875
2 ground-glass opacification on pulmonary hrct 31 very rare (1%) HP:0025179
3 interlobular septal thickening on pulmonary hrct 31 very rare (1%) HP:0030879
4 intraalveolar phospholipid accumulation 31 very rare (1%) HP:0006517
5 respiratory insufficiency 31 HP:0002093

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Respiratory:
respiratory insufficiency
dyspnea

Laboratory Abnormalities:
increased serum gm-csf
impaired response to gm-csf

Respiratory Lung:
alveolar proteinosis
alveoli filled with granular or foamy surfactant protein exudate
granular, hazy, ground-glass interstitial opacifications seen on radiograph

Clinical features from OMIM®:

614370 (Updated 20-May-2021)

UMLS symptoms related to Surfactant Metabolism Dysfunction, Pulmonary, 5:


dyspnea

Drugs & Therapeutics for Surfactant Metabolism Dysfunction, Pulmonary, 5

Search Clinical Trials , NIH Clinical Center for Surfactant Metabolism Dysfunction, Pulmonary, 5

Genetic Tests for Surfactant Metabolism Dysfunction, Pulmonary, 5

Genetic tests related to Surfactant Metabolism Dysfunction, Pulmonary, 5:

# Genetic test Affiliating Genes
1 Surfactant Metabolism Dysfunction, Pulmonary, 5 29 CSF2RB

Anatomical Context for Surfactant Metabolism Dysfunction, Pulmonary, 5

MalaCards organs/tissues related to Surfactant Metabolism Dysfunction, Pulmonary, 5:

40
Lung

Publications for Surfactant Metabolism Dysfunction, Pulmonary, 5

Articles related to Surfactant Metabolism Dysfunction, Pulmonary, 5:

(showing 6, show less)
# Title Authors PMID Year
1
Adult-onset hereditary pulmonary alveolar proteinosis caused by a single-base deletion in CSF2RB. 6 57
21075760 2011
2
Hereditary pulmonary alveolar proteinosis caused by recessive CSF2RB mutations. 57 6
21205713 2011
3
Pulmonary macrophage transplantation therapy. 57
25274301 2014
4
Pulmonary alveolar proteinosis: a bench-to-bedside story of granulocyte-macrophage colony-stimulating factor dysfunction. 57
19666756 2009
5
Human pulmonary alveolar proteinosis associated with a defect in GM-CSF/IL-3/IL-5 receptor common beta chain expression. 57
9410898 1997
6
Murine iPSC-Derived Macrophages as a Tool for Disease Modeling of Hereditary Pulmonary Alveolar Proteinosis due to Csf2rb Deficiency. 61
27453007 2016

Variations for Surfactant Metabolism Dysfunction, Pulmonary, 5

ClinVar genetic disease variations for Surfactant Metabolism Dysfunction, Pulmonary, 5:

6 (showing 11, show less)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CSF2RB CSF2RB, 1-BP DEL, 631C Deletion Pathogenic 29744 GRCh37:
GRCh38:
2 CSF2RB NM_000395.3(CSF2RB):c.812C>T (p.Ser271Leu) SNV Pathogenic 161978 rs672601313 GRCh37: 22:37326510-37326510
GRCh38: 22:36930468-36930468
3 CSF2RB NM_000395.3(CSF2RB):c.2124del (p.Ser709fs) Deletion Pathogenic 402566 rs568607741 GRCh37: 22:37333973-37333973
GRCh38: 22:36937931-36937931
4 CSF2RB NM_000395.3(CSF2RB):c.927dup (p.Val310fs) Duplication Pathogenic 1028728 GRCh37: 22:37326784-37326785
GRCh38: 22:36930742-36930743
5 CSF2RB NM_000395.3(CSF2RB):c.1874C>T (p.Ser625Phe) SNV Uncertain significance 796279 rs560156832 GRCh37: 22:37333724-37333724
GRCh38: 22:36937682-36937682
6 CSF2RB NM_000395.3(CSF2RB):c.632G>A (p.Arg211Gln) SNV Uncertain significance 1048657 GRCh37: 22:37325763-37325763
GRCh38: 22:36929721-36929721
7 CSF2RB NM_000395.3(CSF2RB):c.2533G>A (p.Gly845Ser) SNV Uncertain significance 1048656 GRCh37: 22:37334383-37334383
GRCh38: 22:36938341-36938341
8 CSF2RB NM_000395.3(CSF2RB):c.2119G>A (p.Val707Met) SNV Uncertain significance 689449 rs1601595049 GRCh37: 22:37333969-37333969
GRCh38: 22:36937927-36937927
9 CSF2RB NM_000395.3(CSF2RB):c.1267G>A (p.Gly423Arg) SNV Uncertain significance 619290 rs370411972 GRCh37: 22:37329988-37329988
GRCh38: 22:36933946-36933946
10 CSF2RB NM_000395.3(CSF2RB):c.1597G>A (p.Glu533Lys) SNV Uncertain significance 694631 rs1601594289 GRCh37: 22:37333447-37333447
GRCh38: 22:36937405-36937405
11 CSF2RB NM_000395.3(CSF2RB):c.1943_1944inv (p.Pro648Leu) Inversion Uncertain significance 1002560 GRCh37: 22:37333793-37333794
GRCh38: 22:36937751-36937752

Expression for Surfactant Metabolism Dysfunction, Pulmonary, 5

Search GEO for disease gene expression data for Surfactant Metabolism Dysfunction, Pulmonary, 5.

Pathways for Surfactant Metabolism Dysfunction, Pulmonary, 5

GO Terms for Surfactant Metabolism Dysfunction, Pulmonary, 5

Sources for Surfactant Metabolism Dysfunction, Pulmonary, 5

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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