MCID: SRF003
MIFTS: 29

Surfactant Metabolism Dysfunction, Pulmonary, 2

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

Aliases & Classifications for Surfactant Metabolism Dysfunction, Pulmonary, 2

MalaCards integrated aliases for Surfactant Metabolism Dysfunction, Pulmonary, 2:

Name: Surfactant Metabolism Dysfunction, Pulmonary, 2 53 28 13 69
Interstitial Lung Disease Due to Surfactant Protein C Deficiency 53 55 71
Desquamative Interstitial Pneumonitis Due to Surfactant Protein C Deficiency 53 71
Smdp2 53 71
Chronic Respiratory Distress with Surfactant Metabolism Deficiency 55
Interstitial Lung Disease Due to Sp-C Deficiency 55
Pulmonary Alveolar Proteinosis, Congenital, 2 53
Pulmonary Surfactant Metabolism Dysfunction 2 71
Congenital Pulmonary Alveolar Proteinosis 2 71
Pap 71

Characteristics:

Orphanet epidemiological data:

55
chronic respiratory distress with surfactant metabolism deficiency
Inheritance: Autosomal dominant; Age of onset: All ages;
interstitial lung disease due to sp-c deficiency
Inheritance: Autosomal dominant; Age of onset: Adolescent,Adult,Childhood,Infancy;

OMIM:

53
Inheritance:
autosomal dominant

Miscellaneous:
genetic heterogeneity
reduced penetrance
progressive disease
occurs in full-term newborns
highly variable pathologic phenotype
onset in the first months of life
respiratory distress may be precipitated by viral respiratory infection
some patients may live to adulthood
favorable response to hydroxychloroquine treatment


HPO:

31
surfactant metabolism dysfunction, pulmonary, 2:
Onset and clinical course incomplete penetrance
Inheritance heterogeneous autosomal dominant inheritance


Classifications:

Orphanet: 55  
Rare respiratory diseases


Summaries for Surfactant Metabolism Dysfunction, Pulmonary, 2

UniProtKB/Swiss-Prot : 71 Pulmonary surfactant metabolism dysfunction 2: A rare disease associated with progressive respiratory insufficiency and lung disease with a variable clinical course, 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.

MalaCards based summary : Surfactant Metabolism Dysfunction, Pulmonary, 2, also known as interstitial lung disease due to surfactant protein c deficiency, is related to surfactant metabolism dysfunction, pulmonary, 4 and pulmonary alveolar proteinosis, acquired, and has symptoms including cyanosis, respiratory distress and clubbing. An important gene associated with Surfactant Metabolism Dysfunction, Pulmonary, 2 is SFTPC (Surfactant Protein C). Affiliated tissues include lung.

OMIM : 53 Surfactant protein C (SPC) deficiency is a rare autosomal dominant disease associated with progressive respiratory insufficiency and lung disease with a variable clinical course. The pathophysiology of the disorder is postulated to involve intracellular accumulation of a structurally defective SPC protein (Thomas et al., 2002). For a general phenotypic description and a discussion of genetic heterogeneity of pulmonary surfactant metabolism dysfunction, see SMDP1 (265120). (610913)

Related Diseases for Surfactant Metabolism Dysfunction, Pulmonary, 2

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, 2 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 98)
# Related Disease Score Top Affiliating Genes
1 surfactant metabolism dysfunction, pulmonary, 4 12.0
2 pulmonary alveolar proteinosis, acquired 11.8
3 surfactant metabolism dysfunction, pulmonary, 1 11.8
4 surfactant metabolism dysfunction, pulmonary, 5 11.6
5 surfactant metabolism dysfunction, pulmonary, 3 11.4
6 pulmonary alveolar proteinosis 11.3
7 cervical cancer 11.2
8 polydactyly, postaxial, type a1 11.2
9 vaginal cancer 11.2
10 pituitary adenoma 1, multiple types 11.0
11 cervix disease 10.8
12 brachyolmia type 1, toledo type 10.8
13 interstitial lung and liver disease 10.8
14 congenital pulmonary alveolar proteinosis 10.8
15 hereditary pulmonary alveolar proteinosis 10.8
16 secondary pulmonary alveolar proteinosis 10.8
17 cervicitis 10.4
18 prostatitis 10.3
19 adenocarcinoma 10.2
20 pancreatitis 10.1
21 cervix uteri carcinoma in situ 10.1
22 cervical intraepithelial neoplasia 10.1
23 interstitial lung disease 10.1
24 protein c deficiency 10.1
25 lung disease 10.1
26 prostate cancer 10.0
27 multiple mitochondrial dysfunctions syndrome 5 10.0
28 bacterial vaginosis 10.0
29 aging 9.9
30 vaginitis 9.9
31 adenocarcinoma in situ 9.9
32 pyelonephritis 9.9
33 fibrosis of extraocular muscles, congenital, 1 9.8
34 cystic fibrosis 9.8
35 small cell carcinoma 9.8
36 cervical adenocarcinoma 9.8
37 endocervicitis 9.8
38 dengue hemorrhagic fever 9.7
39 sleep apnea 9.7
40 endocervical adenocarcinoma 9.7
41 endometritis 9.7
42 candidiasis 9.7
43 squamous cell carcinoma 9.7
44 trichomoniasis 9.7
45 vulvovaginal candidiasis 9.7
46 vulvovaginitis 9.7
47 papilloma 9.7
48 endometrial adenocarcinoma 9.7
49 adenoma 9.7
50 peritonitis 9.7

Graphical network of the top 20 diseases related to Surfactant Metabolism Dysfunction, Pulmonary, 2:



Diseases related to Surfactant Metabolism Dysfunction, Pulmonary, 2

Symptoms & Phenotypes for Surfactant Metabolism Dysfunction, Pulmonary, 2

Symptoms via clinical synopsis from OMIM:

53
Skin Nails Hair Skin:
cyanosis

Growth Other:
failure to thrive

Skeletal Hands:
digital clubbing

Respiratory:
dyspnea
respiratory distress
tachypnea

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
Growth Weight:
poor weight gain in infancy


Clinical features from OMIM:

610913

Human phenotypes related to Surfactant Metabolism Dysfunction, Pulmonary, 2:

31 (show all 9)
# Description HPO Frequency HPO Source Accession
1 cyanosis 31 HP:0000961
2 respiratory distress 31 HP:0002098
3 clubbing 31 HP:0001217
4 failure to thrive 31 HP:0001508
5 recurrent respiratory infections 31 HP:0002205
6 tachypnea 31 HP:0002789
7 interstitial pneumonitis 31 HP:0006515
8 alveolar proteinosis 31 HP:0006517
9 tubulointerstitial fibrosis 31 HP:0005576

UMLS symptoms related to Surfactant Metabolism Dysfunction, Pulmonary, 2:


respiratory distress, dyspnea, cyanosis

Drugs & Therapeutics for Surfactant Metabolism Dysfunction, Pulmonary, 2

Search Clinical Trials , NIH Clinical Center for Surfactant Metabolism Dysfunction, Pulmonary, 2

Genetic Tests for Surfactant Metabolism Dysfunction, Pulmonary, 2

Genetic tests related to Surfactant Metabolism Dysfunction, Pulmonary, 2:

# Genetic test Affiliating Genes
1 Surfactant Metabolism Dysfunction, Pulmonary, 2 28 SFTPC

Anatomical Context for Surfactant Metabolism Dysfunction, Pulmonary, 2

MalaCards organs/tissues related to Surfactant Metabolism Dysfunction, Pulmonary, 2:

38
Lung

Publications for Surfactant Metabolism Dysfunction, Pulmonary, 2

Articles related to Surfactant Metabolism Dysfunction, Pulmonary, 2:

# Title Authors Year
1
Childhood interstitial lung disease due to surfactant protein C deficiency: frequent use and costs of hospital services for a single case in Australia. ( 24642012 )
2014

Variations for Surfactant Metabolism Dysfunction, Pulmonary, 2

UniProtKB/Swiss-Prot genetic disease variations for Surfactant Metabolism Dysfunction, Pulmonary, 2:

71
# Symbol AA change Variation ID SNP ID
1 SFTPC p.Ile73Thr VAR_026753
2 SFTPC p.Ala116Asp VAR_026754
3 SFTPC p.Arg167Gln VAR_026755 rs34957318
4 SFTPC p.Leu188Gln VAR_026756
5 SFTPC p.Glu66Lys VAR_036855

ClinVar genetic disease variations for Surfactant Metabolism Dysfunction, Pulmonary, 2:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 SFTPC SFTPC, IVS4DS, G-A, +1 single nucleotide variant Pathogenic
2 SFTPC NM_003018.3(SFTPC): c.218T> C (p.Ile73Thr) single nucleotide variant Pathogenic rs121917834 GRCh37 Chromosome 8, 22020609: 22020609
3 SFTPC NM_003018.3(SFTPC): c.563T> A (p.Leu188Gln) single nucleotide variant Pathogenic rs121917835 GRCh37 Chromosome 8, 22021523: 22021523
4 SFTPC SFTPC, IVS4DS, G-T, +1 single nucleotide variant Pathogenic
5 SFTPC NM_003018.3(SFTPC): c.347C> A (p.Ala116Asp) single nucleotide variant Pathogenic rs121918559 GRCh37 Chromosome 8, 22020971: 22020971
6 SFTPC NM_003018.3(SFTPC): c.196G> A (p.Glu66Lys) single nucleotide variant Pathogenic rs121917836 GRCh37 Chromosome 8, 22020240: 22020240
7 SFTPC NM_003018.3(SFTPC): c.581T> C (p.Leu194Pro) single nucleotide variant Pathogenic rs121918560 GRCh37 Chromosome 8, 22021541: 22021541

Expression for Surfactant Metabolism Dysfunction, Pulmonary, 2

Search GEO for disease gene expression data for Surfactant Metabolism Dysfunction, Pulmonary, 2.

Pathways for Surfactant Metabolism Dysfunction, Pulmonary, 2

GO Terms for Surfactant Metabolism Dysfunction, Pulmonary, 2

Sources for Surfactant Metabolism Dysfunction, Pulmonary, 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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