SMDP2
MCID: SRF003
MIFTS: 29

Surfactant Metabolism Dysfunction, Pulmonary, 2 (SMDP2) malady

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

Aliases & Classifications for Surfactant Metabolism Dysfunction, Pulmonary, 2

Aliases & Descriptions for Surfactant Metabolism Dysfunction, Pulmonary, 2:

Name: Surfactant Metabolism Dysfunction, Pulmonary, 2 54 13 69
Interstitial Lung Disease Due to Surfactant Protein C Deficiency 56 66
Pulmonary Surfactant Metabolism Dysfunction 2 66 29
Desquamative Interstitial Pneumonitis Due to Surfactant Protein C Deficiency 66
Chronic Respiratory Distress with Surfactant Metabolism Deficiency 56
Interstitial Lung Disease Due to Sp-C Deficiency 56
Congenital Pulmonary Alveolar Proteinosis 2 66
Smdp2 66
Pap 66

Characteristics:

Orphanet epidemiological data:

56
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;

HPO:

32
surfactant metabolism dysfunction, pulmonary, 2:
Inheritance autosomal dominant inheritance heterogeneous
Onset and clinical course incomplete penetrance


Classifications:

Orphanet: 56  
Rare respiratory diseases


External Ids:

OMIM 54 610913
ICD10 via Orphanet 34 J84.8
MedGen 40 C1970470
MeSH 42 D011649

Summaries for Surfactant Metabolism Dysfunction, Pulmonary, 2

UniProtKB/Swiss-Prot : 66 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 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 : 54 Surfactant protein C (SPC) deficiency is a rare autosomal dominant disease associated with progressive respiratory... (610913) more...

Related Diseases for Surfactant Metabolism Dysfunction, Pulmonary, 2

Diseases in the Pulmonary Surfactant Metabolism Dysfunction family:

Surfactant Metabolism Dysfunction, Pulmonary, 1 Surfactant Metabolism Dysfunction, Pulmonary, 2
Surfactant Metabolism Dysfunction, Pulmonary, 3 Surfactant Metabolism Dysfunction, Pulmonary, 5
Surfactant Metabolism Dysfunction, Pulmonary, 4 Abca3-Related Pulmonary Surfactant Metabolism Dysfunction
Csf2ra-Related Pulmonary Surfactant Metabolism Dysfunction Sftpb-Related Pulmonary Surfactant Metabolism Dysfunction
Sftpc-Related Pulmonary Surfactant Metabolism Dysfunction

Diseases related to Surfactant Metabolism Dysfunction, Pulmonary, 2 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 79)
id Related Disease Score Top Affiliating Genes
1 pulmonary alveolar proteinosis, acquired 11.7
2 surfactant metabolism dysfunction, pulmonary, 4 11.6
3 surfactant metabolism dysfunction, pulmonary, 5 11.4
4 surfactant metabolism dysfunction, pulmonary, 1 11.4
5 polydactyly, postaxial, types a1 and b 11.3
6 pulmonary alveolar proteinosis 11.2
7 sftpc-related pulmonary surfactant metabolism dysfunction 11.2
8 vaginal cancer 11.0
9 pituitary adenoma, growth hormone-secreting 10.9
10 cervical cancer, somatic 10.7
11 cervix disease 10.7
12 hereditary pulmonary alveolar proteinosis 10.7
13 secondary pulmonary alveolar proteinosis 10.7
14 congenital pulmonary alveolar proteinosis 10.7
15 csfrb-related pulmonary surfactant metabolism dysfunction 10.7
16 interstitial lung and liver disease 10.7
17 surfactant metabolism dysfunction, pulmonary, 3 10.7
18 cervicitis 10.3
19 prostatitis 10.2
20 adenocarcinoma 10.1
21 cervical intraepithelial neoplasia 10.0
22 pancreatitis 10.0
23 prostate cancer 10.0
24 bacterial vaginosis 9.9
25 vaginitis 9.9
26 pyelonephritis 9.8
27 adenocarcinoma in situ 9.8
28 cervical adenocarcinoma 9.8
29 small cell carcinoma 9.8
30 cystic fibrosis 9.8
31 peritonitis 9.7
32 dengue hemorrhagic fever 9.7
33 hemorrhagic fever 9.7
34 squamous cell carcinoma 9.7
35 trichomoniasis 9.7
36 papilloma 9.7
37 endocervicitis 9.7
38 endometritis 9.7
39 adenoma 9.7
40 pancreatic cancer 9.5
41 prostatic hypertrophy 9.5
42 antiphospholipid syndrome 9.5
43 chlamydia 9.5
44 genital herpes 9.5
45 toxic oil syndrome 9.5
46 gingivitis 9.5
47 molluscum contagiosum 9.5
48 polydactyly 9.5
49 papillary cystadenocarcinoma 9.5
50 pemphigus 9.5

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 by clinical synopsis from OMIM:

610913

Clinical features from OMIM:

610913

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

32 (show all 9)
id Description HPO Frequency HPO Source Accession
1 cyanosis 32 HP:0000961
2 respiratory distress 32 HP:0002098
3 clubbing 32 HP:0001217
4 failure to thrive 32 HP:0001508
5 recurrent respiratory infections 32 HP:0002205
6 tachypnea 32 HP:0002789
7 interstitial pneumonitis 32 HP:0006515
8 tubulointerstitial fibrosis 32 HP:0005576
9 alveolar proteinosis 32 HP:0006517

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


cyanosis, dyspnea, respiratory distress

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:

id Genetic test Affiliating Genes
1 Surfactant Metabolism Dysfunction, Pulmonary, 2 29

Anatomical Context for Surfactant Metabolism Dysfunction, Pulmonary, 2

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

39
Lung

Publications for Surfactant Metabolism Dysfunction, Pulmonary, 2

Variations for Surfactant Metabolism Dysfunction, Pulmonary, 2

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

66
id 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
id Gene Variation Type Significance SNP ID Assembly Location
1 SFTPC SFTPC, IVS4DS, G-T, +1 single nucleotide variant Pathogenic
2 SFTPC SFTPC, IVS4DS, G-A, +1 single nucleotide variant Pathogenic
3 SFTPC NM_003018.3(SFTPC): c.218T> C (p.Ile73Thr) single nucleotide variant Pathogenic rs121917834 GRCh37 Chromosome 8, 22020609: 22020609
4 SFTPC NM_003018.3(SFTPC): c.563T> A (p.Leu188Gln) single nucleotide variant Pathogenic rs121917835 GRCh37 Chromosome 8, 22021523: 22021523
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
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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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