MCID: SRF004
MIFTS: 25

Surfactant Metabolism Dysfunction, Pulmonary, 1

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

Aliases & Classifications for Surfactant Metabolism Dysfunction, Pulmonary, 1

MalaCards integrated aliases for Surfactant Metabolism Dysfunction, Pulmonary, 1:

Name: Surfactant Metabolism Dysfunction, Pulmonary, 1 57 29 13 6 73
Interstitial Lung Disease Due to Surfactant Protein B Deficiency 57 75
Smdp1 57 75
Interstitial Lung Disease, Nonspecific, Due to Surfactant Protein B Deficiency 57
Interstitial Lung Disease Non-Specific Due to Surfactant Protein B Deficiency 75
Neonatal Acute Respiratory Distress Due to Surfactant Protein B Deficiency 59
Neonatal Acute Respiratory Distress Due to Sp-B Deficiency 59
Surfactant Metabolism Dysfunction, Pulmonary, Type 1 40
Pulmonary Alveolar Proteinosis, Congenital, 1 57
Pulmonary Surfactant Metabolism Dysfunction 1 75
Congenital Pulmonary Alveolar Proteinosis 1 75
Pap 75

Characteristics:

Orphanet epidemiological data:

59
neonatal acute respiratory distress due to sp-b deficiency
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal; Age of death: infantile;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
genetic heterogeneity
rapidly progressive
onset in infancy (first hours to weeks of life)
occurs in full-term newborns
death usually occurs in the first weeks to months of life
minimal response to surfactant treatment
incidence of 1 in 1.5 million births


HPO:

32
surfactant metabolism dysfunction, pulmonary, 1:
Onset and clinical course rapidly progressive infantile onset
Inheritance heterogeneous autosomal recessive inheritance


Classifications:

Orphanet: 59  
Rare respiratory diseases


Summaries for Surfactant Metabolism Dysfunction, Pulmonary, 1

OMIM : 57 Inborn errors of pulmonary surfactant metabolism are genetically heterogeneous disorders resulting in severe respiratory insufficiency or failure in full-term neonates or infants. These disorders are associated with various pathologic entities, including pulmonary alveolar proteinosis (PAP), desquamative interstitial pneumonitis (DIP), or cellular nonspecific interstitial pneumonitis (NSIP) (Clark and Clark, 2005). A clinically similar disorder characterized by respiratory distress (267450) can affect preterm infants, who show developmental deficiency of surfactant. Acquired PAP (610910) is an autoimmune disorder characterized by the presence of autoantobodies to CSF2 (138960). (265120)

MalaCards based summary : Surfactant Metabolism Dysfunction, Pulmonary, 1, also known as interstitial lung disease due to surfactant protein b deficiency, is related to interstitial pneumonitis, desquamative, familial and respiratory distress syndrome in premature infants, and has symptoms including apnea, cyanosis and dyspnea. An important gene associated with Surfactant Metabolism Dysfunction, Pulmonary, 1 is SFTPB (Surfactant Protein B). Affiliated tissues include lung, and related phenotypes are cyanosis and clubbing

UniProtKB/Swiss-Prot : 75 Pulmonary surfactant metabolism dysfunction 1: 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, 1

Graphical network of the top 20 diseases related to Surfactant Metabolism Dysfunction, Pulmonary, 1:



Diseases related to Surfactant Metabolism Dysfunction, Pulmonary, 1

Symptoms & Phenotypes for Surfactant Metabolism Dysfunction, Pulmonary, 1

Symptoms via clinical synopsis from OMIM:

57
Growth Other:
failure to thrive

Skin Nails Hair Skin:
cyanosis

Cardiovascular Vascular:
pulmonary hypertension

Respiratory:
dyspnea
apnea
tachypnea
respiratory distress, severe, neonatal
respiratory failure, neonatal

Respiratory Lung:
alveolar proteinosis
interstitial fibrosis
alveoli filled with granular or foamy surfactant protein exudate
alveoli contain desquamated type ii pneumocytes and macrophages
type ii pneumocyte hyperplasia
more
Skeletal Hands:
digital clubbing


Clinical features from OMIM:

265120

Human phenotypes related to Surfactant Metabolism Dysfunction, Pulmonary, 1:

32 (show all 13)
# Description HPO Frequency HPO Source Accession
1 cyanosis 32 HP:0000961
2 clubbing 32 HP:0001217
3 failure to thrive 32 HP:0001508
4 abnormality of metabolism/homeostasis 32 HP:0001939
5 pulmonary arterial hypertension 32 HP:0002092
6 dyspnea 32 HP:0002094
7 respiratory distress 32 HP:0002098
8 apnea 32 HP:0002104
9 tachypnea 32 HP:0002789
10 respiratory failure 32 HP:0002878
11 desquamative interstitial pneumonitis 32 HP:0005942
12 alveolar proteinosis 32 HP:0006517
13 interstitial pulmonary abnormality 32 HP:0006530

UMLS symptoms related to Surfactant Metabolism Dysfunction, Pulmonary, 1:


apnea, cyanosis, dyspnea

Drugs & Therapeutics for Surfactant Metabolism Dysfunction, Pulmonary, 1

Search Clinical Trials , NIH Clinical Center for Surfactant Metabolism Dysfunction, Pulmonary, 1

Genetic Tests for Surfactant Metabolism Dysfunction, Pulmonary, 1

Genetic tests related to Surfactant Metabolism Dysfunction, Pulmonary, 1:

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

Anatomical Context for Surfactant Metabolism Dysfunction, Pulmonary, 1

MalaCards organs/tissues related to Surfactant Metabolism Dysfunction, Pulmonary, 1:

41
Lung

Publications for Surfactant Metabolism Dysfunction, Pulmonary, 1

Variations for Surfactant Metabolism Dysfunction, Pulmonary, 1

UniProtKB/Swiss-Prot genetic disease variations for Surfactant Metabolism Dysfunction, Pulmonary, 1:

75
# Symbol AA change Variation ID SNP ID
1 SFTPB p.Arg236Cys VAR_036856 rs137853202

ClinVar genetic disease variations for Surfactant Metabolism Dysfunction, Pulmonary, 1:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 SFTPB NM_198843.2(SFTPB): c.397delCinsGAA (p.Pro133Glufs) indel Pathogenic rs35328240 GRCh38 Chromosome 2, 85666649: 85666649
2 SFTPB NM_198843.2(SFTPB): c.397delCinsGAA (p.Pro133Glufs) indel Pathogenic rs35328240 GRCh37 Chromosome 2, 85893772: 85893772
3 SFTPB SFTPB, 1-BP DEL, 1553T deletion Pathogenic
4 SFTPB SFTPB, 1-BP DEL, 457C deletion Pathogenic
5 SFTPB NM_198843.2(SFTPB): c.742C> T (p.Arg248Cys) single nucleotide variant Pathogenic rs137853202 GRCh37 Chromosome 2, 85890937: 85890937
6 SFTPB NM_198843.2(SFTPB): c.742C> T (p.Arg248Cys) single nucleotide variant Pathogenic rs137853202 GRCh38 Chromosome 2, 85663814: 85663814
7 SFTPB NM_198843.2(SFTPB): c.501G> T (p.Gly167=) single nucleotide variant Pathogenic GRCh37 Chromosome 2, 85892846: 85892846
8 SFTPB NM_198843.2(SFTPB): c.501G> T (p.Gly167=) single nucleotide variant Pathogenic GRCh38 Chromosome 2, 85665723: 85665723

Expression for Surfactant Metabolism Dysfunction, Pulmonary, 1

Search GEO for disease gene expression data for Surfactant Metabolism Dysfunction, Pulmonary, 1.

Pathways for Surfactant Metabolism Dysfunction, Pulmonary, 1

GO Terms for Surfactant Metabolism Dysfunction, Pulmonary, 1

Sources for Surfactant Metabolism Dysfunction, Pulmonary, 1

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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