MCID: SRF007
MIFTS: 22

Surfactant Metabolism Dysfunction, Pulmonary, 5

Categories: Genetic diseases, Metabolic diseases, Respiratory diseases, Rare 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 73
Pulmonary Alveolar Proteinosis 5 57 75
Pap Due to Csf2rb Deficiency 57 75
Csf2rb Deficiency 57 75
Smdp5 57 75
Surfactant Metabolism Dysfunction, Pulmonary, Type 5 40
Pulmonary Surfactant Metabolism Dysfunction 5 75
Pap5 75

Characteristics:

OMIM:

57
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:

32
surfactant metabolism dysfunction, pulmonary, 5:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 614370
MedGen 42 C3280574
MeSH 44 D011649
UMLS 73 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)

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 Beta Common Subunit). Affiliated tissues include lung, and related phenotypes are respiratory insufficiency and dyspnea

UniProtKB/Swiss-Prot : 75 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, 2 family:

Surfactant Metabolism Dysfunction, Pulmonary, 1 Surfactant Metabolism Dysfunction, Pulmonary, 4
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:

# Related Disease Score Top Affiliating Genes
1 pulmonary alveolar proteinosis 9.9
2 hereditary pulmonary alveolar proteinosis 9.9

Symptoms & Phenotypes for Surfactant Metabolism Dysfunction, Pulmonary, 5

Symptoms via clinical synopsis from OMIM:

57
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

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

32
# Description HPO Frequency HPO Source Accession
1 respiratory insufficiency 32 HP:0002093
2 dyspnea 32 HP:0002094
3 alveolar proteinosis 32 HP:0006517

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:

41
Lung

Publications for Surfactant Metabolism Dysfunction, Pulmonary, 5

Articles related to Surfactant Metabolism Dysfunction, Pulmonary, 5:

# Title Authors Year
1
Murine iPSC-Derived Macrophages as a Tool for Disease Modeling of Hereditary Pulmonary Alveolar Proteinosis due to Csf2rb Deficiency. ( 27453007 )
2016

Variations for Surfactant Metabolism Dysfunction, Pulmonary, 5

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 CSF2RB CSF2RB, 1-BP DEL, 631C deletion Pathogenic
2 CSF2RB NM_000395.2(CSF2RB): c.812C> T (p.Ser271Leu) single nucleotide variant Pathogenic rs672601313 GRCh38 Chromosome 22, 36930468: 36930468
3 CSF2RB NM_000395.2(CSF2RB): c.812C> T (p.Ser271Leu) single nucleotide variant Pathogenic rs672601313 GRCh37 Chromosome 22, 37326510: 37326510

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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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