SMDP2
MCID: SRF003
MIFTS: 34

Surfactant Metabolism Dysfunction, Pulmonary, 2 (SMDP2)

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

Aliases & Classifications for Surfactant Metabolism Dysfunction, Pulmonary, 2

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

Name: Surfactant Metabolism Dysfunction, Pulmonary, 2 56 29 13 6 71
Interstitial Lung Disease Due to Surfactant Protein C Deficiency 56 58 73
Desquamative Interstitial Pneumonitis Due to Surfactant Protein C Deficiency 56 73
Smdp2 56 73
Chronic Respiratory Distress with Surfactant Metabolism Deficiency 58
Surfactant Metabolism Dysfunction, Pulmonary, Type 2 39
Interstitial Lung Disease Due to Sp-C Deficiency 58
Pulmonary Alveolar Proteinosis, Congenital, 2 56
Pulmonary Surfactant Metabolism Dysfunction 2 73
Congenital Pulmonary Alveolar Proteinosis 2 73
Pap 73

Characteristics:

Orphanet epidemiological data:

58
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:

56
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:
Inheritance autosomal dominant inheritance heterogeneous
Onset and clinical course incomplete penetrance


Classifications:

Orphanet: 58  
Rare respiratory diseases


External Ids:

OMIM 56 610913
OMIM Phenotypic Series 56 PS265120
MeSH 43 D011649
ICD10 via Orphanet 33 J84.8
MedGen 41 C1970470
UMLS 71 C1970470

Summaries for Surfactant Metabolism Dysfunction, Pulmonary, 2

UniProtKB/Swiss-Prot : 73 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 pulmonary alveolar proteinosis, acquired and surfactant metabolism dysfunction, pulmonary, 4, and has symptoms including dyspnea, respiratory distress and cyanosis. An important gene associated with Surfactant Metabolism Dysfunction, Pulmonary, 2 is SFTPC (Surfactant Protein C). Affiliated tissues include lung, and related phenotypes are failure to thrive and recurrent respiratory infections

OMIM : 56 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, 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, 2 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 355)
# Related Disease Score Top Affiliating Genes
1 pulmonary alveolar proteinosis, acquired 12.3
2 surfactant metabolism dysfunction, pulmonary, 4 12.0
3 pulmonary alveolar proteinosis 11.9
4 surfactant metabolism dysfunction, pulmonary, 5 11.9
5 surfactant metabolism dysfunction, pulmonary, 1 11.8
6 polydactyly, postaxial, type a1 11.8
7 congenital pulmonary alveolar proteinosis 11.7
8 cervical cancer 11.7
9 secondary pulmonary alveolar proteinosis 11.5
10 vaginal cancer 11.5
11 brachyolmia type 1, toledo type 11.5
12 hereditary pulmonary alveolar proteinosis 11.5
13 cervix disease 11.4
14 pituitary adenoma 1, multiple types 11.3
15 polydactyly, postaxial, type a10 11.3
16 surfactant metabolism dysfunction, pulmonary, 3 11.1
17 interstitial lung and liver disease 11.1
18 chondrodysplasia with joint dislocations, gpapp type 11.1
19 mycoplasma pneumoniae pneumonia 11.1
20 cervix uteri carcinoma in situ 10.8
21 cervical intraepithelial neoplasia 10.8
22 squamous cell papilloma 10.6
23 papilloma 10.6
24 suppressor of tumorigenicity 3 10.6
25 sleep apnea 10.5
26 adenocarcinoma in situ 10.5
27 adenocarcinoma 10.5
28 chlamydia 10.5
29 pyelonephritis 10.5
30 endometrial cancer 10.4
31 in situ carcinoma 10.4
32 acute pancreatitis 10.4
33 bacterial vaginosis 10.4
34 pancreatitis 10.4
35 prostate cancer 10.3
36 prostatic hypertrophy 10.3
37 endometrial adenocarcinoma 10.3
38 cervicitis 10.3
39 vaginal discharge 10.3
40 vaginitis 10.3
41 anus cancer 10.3
42 endocervical adenocarcinoma 10.3
43 antiphospholipid syndrome 10.2
44 cystic fibrosis 10.2
45 endometrial hyperplasia 10.2
46 interstitial lung disease 10.2
47 protein c deficiency 10.2
48 lung disease 10.2
49 hepatocellular carcinoma 10.2
50 candidiasis 10.2

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

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

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

Symptoms via clinical synopsis from OMIM:

56
Growth Other:
failure to thrive

Skin Nails Hair Skin:
cyanosis

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

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


dyspnea, respiratory distress, 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 29 SFTPC

Anatomical Context for Surfactant Metabolism Dysfunction, Pulmonary, 2

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

40
Lung

Publications for Surfactant Metabolism Dysfunction, Pulmonary, 2

Articles related to Surfactant Metabolism Dysfunction, Pulmonary, 2:

(show all 16)
# Title Authors PMID Year
1
New surfactant protein C gene mutations associated with diffuse lung disease. 6 56
19443464 2009
2
Nonspecific interstitial pneumonia, alveolar proteinosis, and abnormal proprotein trafficking resulting from a spontaneous mutation in the surfactant protein C gene. 56 6
15557112 2005
3
Hydroxychloroquine and surfactant protein C deficiency. 6 56
15647591 2005
4
Interstitial lung disease in a baby with a de novo mutation in the SFTPC gene. 56 6
15293602 2004
5
Mutation of SFTPC in infantile pulmonary alveolar proteinosis with or without fibrosing lung disease. 56 6
15039969 2004
6
Heterozygosity for a surfactant protein C gene mutation associated with usual interstitial pneumonitis and cellular nonspecific interstitial pneumonitis in one kindred. 56 6
11991887 2002
7
Mutations in the surfactant protein C gene associated with interstitial lung disease. 56 6
11893657 2002
8
A mutation in the surfactant protein C gene associated with familial interstitial lung disease. 56 6
11207353 2001
9
Familial fibrocystic pulmonary dysplasia: a new case in a known affected family. 56 6
5942662 1966
10
Familial fibrocystic pulmonary dysplasia and its relation to Hamman-Rich syndrome. 56 6
13817571 1959
11
Variable phenotype associated with SP-C gene mutations: fatal case with the I73T mutation. 6
15572558 2004
12
Deletion of exon 4 from human surfactant protein C results in aggresome formation and generation of a dominant negative. 6
12538769 2003
13
Idiopathic interstitial pneumonitis in children: a national survey in the United Kingdom and Ireland. 56
12112793 2002
14
Surfactant protein deficiency in familial interstitial lung disease. 56
11445799 2001
15
Inhibition of cellular processing of surfactant protein C by drugs affecting intracellular pH gradients. 56
8662952 1996
16
Childhood interstitial lung disease due to surfactant protein C deficiency: frequent use and costs of hospital services for a single case in Australia. 61
24642012 2014

Variations for Surfactant Metabolism Dysfunction, Pulmonary, 2

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

6 (show all 11) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SFTPC NM_003018.4(SFTPC):c.563T>A (p.Leu188Gln)SNV Pathogenic 13210 rs121917835 8:22021523-22021523 8:22164010-22164010
2 SFTPC NM_003018.4(SFTPC):c.435+1G>TSNV Pathogenic 13211 8:22021060-22021060 8:22163547-22163547
3 SFTPC NM_003018.4(SFTPC):c.347C>A (p.Ala116Asp)SNV Pathogenic 13212 rs121918559 8:22020971-22020971 8:22163458-22163458
4 SFTPC NM_003018.4(SFTPC):c.196G>A (p.Glu66Lys)SNV Pathogenic 13213 rs121917836 8:22020240-22020240 8:22162727-22162727
5 SFTPC NM_003018.4(SFTPC):c.581T>C (p.Leu194Pro)SNV Pathogenic 13214 rs121918560 8:22021541-22021541 8:22164028-22164028
6 SFTPC SFTPC, IVS4DS, G-A, +1SNV Pathogenic 13207
7 SFTPC NM_003018.4(SFTPC):c.218T>C (p.Ile73Thr)SNV Pathogenic 13208 rs121917834 8:22020609-22020609 8:22163096-22163096
8 SFTPC NM_003018.4(SFTPC):c.115G>T (p.Val39Leu)SNV Conflicting interpretations of pathogenicity 225466 rs183533911 8:22020159-22020159 8:22162646-22162646
9 SFTPC NM_003018.4(SFTPC):c.410T>A (p.Leu137His)SNV Uncertain significance 693987 8:22021034-22021034 8:22163521-22163521
10 SFTPC NM_003018.4(SFTPC):c.500G>A (p.Arg167Gln)SNV Likely benign 13209 rs34957318 8:22021460-22021460 8:22163947-22163947
11 SFTPC NM_003018.4(SFTPC):c.24C>G (p.Val8=)SNV Likely benign 362550 rs144603526 8:22019365-22019365 8:22161852-22161852

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

73
# Symbol AA change Variation ID SNP ID
1 SFTPC p.Ile73Thr VAR_026753 rs121917834
2 SFTPC p.Ala116Asp VAR_026754 rs121918559
3 SFTPC p.Arg167Gln VAR_026755 rs34957318
4 SFTPC p.Leu188Gln VAR_026756 rs121917835
5 SFTPC p.Glu66Lys VAR_036855 rs121917836

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
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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