MCID: SRF008
MIFTS: 25

Surfactant Metabolism Dysfunction, Pulmonary, 4

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

Aliases & Classifications for Surfactant Metabolism Dysfunction, Pulmonary, 4

MalaCards integrated aliases for Surfactant Metabolism Dysfunction, Pulmonary, 4:

Name: Surfactant Metabolism Dysfunction, Pulmonary, 4 57 29 13 6 73
Pap Due to Csf2ra Deficiency 57 75
Csf2ra Deficiency 57 75
Smdp4 57 75
Surfactant Metabolism Dysfunction, Pulmonary, Type 4 40
Pulmonary Alveolar Proteinosis, Congenital, 4 57
Pulmonary Surfactant Metabolism Dysfunction 4 75
Congenital Pulmonary Alveolar Proteinosis 4 75
Pap 75

Characteristics:

HPO:

32
surfactant metabolism dysfunction, pulmonary, 4:
Inheritance x-linked inheritance


Classifications:



External Ids:

OMIM 57 300770
MedGen 42 C2677877
MeSH 44 D011649
UMLS 73 C2677877

Summaries for Surfactant Metabolism Dysfunction, Pulmonary, 4

OMIM : 57 Pulmonary alveolar proteinosis (PAP) is a rare lung disorder in which surfactant-derived lipoproteins accumulate excessively within pulmonary alveoli, causing severe respiratory distress. Three forms of PAP have been described: hereditary (usually congenital), secondary, and acquired. Hereditary PAP is associated with mutations in the CSF2RA gene or in genes encoding surfactant proteins. Secondary PAP develops in conditions in which there are reduced numbers or functional impairment of alveolar macrophages and is associated with inhalation of inorganic dust (silica) or toxic fumes, hematologic malignancies, pharmacologic immunosuppression, infections, and impaired CSF2RB (138960) expression. Acquired PAP (610910), the most common form, usually occurs in adults and is caused by neutralizing autoantibodies to CSF2 (138960) (Martinez-Moczygemba et al., 2008). For a general phenotypic description and a discussion of genetic heterogeneity of congenital pulmonary surfactant metabolism dysfunction, see SMDP1 (265120). (300770)

MalaCards based summary : Surfactant Metabolism Dysfunction, Pulmonary, 4, also known as pap due to csf2ra deficiency, is related to pulmonary alveolar proteinosis, acquired and surfactant metabolism dysfunction, pulmonary, 5. An important gene associated with Surfactant Metabolism Dysfunction, Pulmonary, 4 is CSF2RA (Colony Stimulating Factor 2 Receptor Alpha Subunit). Affiliated tissues include lung, and related phenotypes are tachypnea and restrictive ventilatory defect

UniProtKB/Swiss-Prot : 75 Pulmonary surfactant metabolism dysfunction 4: 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, 4

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

(show top 50) (show all 99)
# Related Disease Score Top Affiliating Genes
1 pulmonary alveolar proteinosis, acquired 11.8
2 surfactant metabolism dysfunction, pulmonary, 5 11.6
3 surfactant metabolism dysfunction, pulmonary, 1 11.5
4 pulmonary alveolar proteinosis 11.3
5 cervical cancer 11.3
6 vaginal cancer 11.2
7 pituitary adenoma 1, multiple types 11.0
8 polydactyly, postaxial, type a1 10.8
9 cervix disease 10.8
10 brachyolmia type 1, toledo type 10.8
11 surfactant metabolism dysfunction, pulmonary, 2 10.8
12 surfactant metabolism dysfunction, pulmonary, 3 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 10.5
18 prostatitis 10.3
19 adenocarcinoma 10.2
20 pancreatitis 10.2
21 prostate cancer 10.1
22 cervix uteri carcinoma in situ 10.1
23 cervical intraepithelial neoplasia 10.1
24 aging 10.1
25 vaginitis 10.1
26 bacterial vaginosis 10.0
27 chlamydia 9.9
28 adenocarcinoma in situ 9.9
29 endocervicitis 9.9
30 cystic fibrosis 9.9
31 pyelonephritis 9.9
32 small cell carcinoma 9.8
33 squamous cell carcinoma 9.8
34 acute pancreatitis 9.8
35 cervical adenocarcinoma 9.8
36 breast cancer 9.7
37 breast reconstruction 9.7
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 trichomoniasis 9.7
44 vulvovaginal candidiasis 9.7
45 vulvovaginitis 9.7
46 papilloma 9.7
47 endometrial adenocarcinoma 9.7
48 adenoma 9.7
49 peritonitis 9.7
50 hemorrhagic fever 9.7

Graphical network of the top 20 diseases related to Surfactant Metabolism Dysfunction, Pulmonary, 4:



Diseases related to Surfactant Metabolism Dysfunction, Pulmonary, 4

Symptoms & Phenotypes for Surfactant Metabolism Dysfunction, Pulmonary, 4

Clinical features from OMIM:

300770

Human phenotypes related to Surfactant Metabolism Dysfunction, Pulmonary, 4:

32
# Description HPO Frequency HPO Source Accession
1 tachypnea 32 HP:0002789
2 restrictive ventilatory defect 32 HP:0002091
3 alveolar proteinosis 32 HP:0006517

Drugs & Therapeutics for Surfactant Metabolism Dysfunction, Pulmonary, 4

Search Clinical Trials , NIH Clinical Center for Surfactant Metabolism Dysfunction, Pulmonary, 4

Genetic Tests for Surfactant Metabolism Dysfunction, Pulmonary, 4

Genetic tests related to Surfactant Metabolism Dysfunction, Pulmonary, 4:

# Genetic test Affiliating Genes
1 Surfactant Metabolism Dysfunction, Pulmonary, 4 29 CSF2RA

Anatomical Context for Surfactant Metabolism Dysfunction, Pulmonary, 4

MalaCards organs/tissues related to Surfactant Metabolism Dysfunction, Pulmonary, 4:

41
Lung

Publications for Surfactant Metabolism Dysfunction, Pulmonary, 4

Variations for Surfactant Metabolism Dysfunction, Pulmonary, 4

UniProtKB/Swiss-Prot genetic disease variations for Surfactant Metabolism Dysfunction, Pulmonary, 4:

75
# Symbol AA change Variation ID SNP ID
1 CSF2RA p.Gly196Arg VAR_058507 rs137852353

ClinVar genetic disease variations for Surfactant Metabolism Dysfunction, Pulmonary, 4:

6
(show top 50) (show all 67)
# Gene Variation Type Significance SNP ID Assembly Location
1 CSF2RA NG_012280.1: g.(22122_24720)_(45680_?)del deletion Pathogenic GRCh38 Chromosome X, 1285921: 1309479
2 CSF2RA NM_001161529.1(CSF2RA): c.586G> A (p.Gly196Arg) single nucleotide variant Pathogenic rs137852353 GRCh37 Chromosome X, 1409342: 1409342
3 CSF2RA NM_001161529.1(CSF2RA): c.586G> A (p.Gly196Arg) single nucleotide variant Pathogenic rs137852353 GRCh38 Chromosome X, 1290449: 1290449
4 CSF2RA NM_001161529.1(CSF2RA): c.586G> A (p.Gly196Arg) single nucleotide variant Pathogenic rs137852353 GRCh38 Chromosome Y, 1290449: 1290449
5 CSF2RA NM_001161529.1(CSF2RA): c.586G> A (p.Gly196Arg) single nucleotide variant Pathogenic rs137852353 GRCh37 Chromosome Y, 1359342: 1359342
6 CSF2RA NM_001161529.1(CSF2RA): c.491G> A (p.Arg164Gln) single nucleotide variant Benign/Likely benign rs138964358 GRCh37 Chromosome X, 1409247: 1409247
7 CSF2RA NM_001161529.1(CSF2RA): c.491G> A (p.Arg164Gln) single nucleotide variant Benign/Likely benign rs138964358 GRCh38 Chromosome X, 1290354: 1290354
8 CSF2RA NM_001161529.1(CSF2RA): c.491G> A (p.Arg164Gln) single nucleotide variant Benign/Likely benign rs138964358 GRCh37 Chromosome Y, 1359247: 1359247
9 CSF2RA NM_001161529.1(CSF2RA): c.491G> A (p.Arg164Gln) single nucleotide variant Benign/Likely benign rs138964358 GRCh38 Chromosome Y, 1290354: 1290354
10 CSF2RA NM_006140.4(CSF2RA): c.425C> T (p.Pro142Leu) single nucleotide variant Benign rs151058706 GRCh37 Chromosome X, 1407733: 1407733
11 CSF2RA NM_006140.4(CSF2RA): c.425C> T (p.Pro142Leu) single nucleotide variant Benign rs151058706 GRCh38 Chromosome X, 1288840: 1288840
12 CSF2RA NM_006140.4(CSF2RA): c.425C> T (p.Pro142Leu) single nucleotide variant Benign rs151058706 GRCh38 Chromosome Y, 1288840: 1288840
13 CSF2RA NM_006140.4(CSF2RA): c.425C> T (p.Pro142Leu) single nucleotide variant Benign rs151058706 GRCh37 Chromosome Y, 1357733: 1357733
14 CSF2RA NM_006140.4(CSF2RA): c.561G> A (p.Thr187=) single nucleotide variant Benign rs73618036 GRCh37 Chromosome X, 1409317: 1409317
15 CSF2RA NM_006140.4(CSF2RA): c.561G> A (p.Thr187=) single nucleotide variant Benign rs73618036 GRCh38 Chromosome X, 1290424: 1290424
16 CSF2RA NM_006140.4(CSF2RA): c.561G> A (p.Thr187=) single nucleotide variant Benign rs73618036 GRCh38 Chromosome Y, 1290424: 1290424
17 CSF2RA NM_006140.4(CSF2RA): c.561G> A (p.Thr187=) single nucleotide variant Benign rs73618036 GRCh37 Chromosome Y, 1359317: 1359317
18 CSF2RA NM_006140.4(CSF2RA): c.300T> C (p.Thr100=) single nucleotide variant Benign rs144521208 GRCh38 Chromosome X, 1288599: 1288599
19 CSF2RA NM_006140.4(CSF2RA): c.300T> C (p.Thr100=) single nucleotide variant Benign rs144521208 GRCh37 Chromosome X, 1407492: 1407492
20 CSF2RA NM_006140.4(CSF2RA): c.300T> C (p.Thr100=) single nucleotide variant Benign rs144521208 GRCh37 Chromosome Y, 1357492: 1357492
21 CSF2RA NM_006140.4(CSF2RA): c.300T> C (p.Thr100=) single nucleotide variant Benign rs144521208 GRCh38 Chromosome Y, 1288599: 1288599
22 CSF2RA NM_006140.4(CSF2RA): c.549G> C (p.Leu183=) single nucleotide variant Benign rs139093878 GRCh37 Chromosome X, 1409305: 1409305
23 CSF2RA NM_006140.4(CSF2RA): c.549G> C (p.Leu183=) single nucleotide variant Benign rs139093878 GRCh38 Chromosome X, 1290412: 1290412
24 CSF2RA NM_006140.4(CSF2RA): c.549G> C (p.Leu183=) single nucleotide variant Benign rs139093878 GRCh37 Chromosome Y, 1359305: 1359305
25 CSF2RA NM_006140.4(CSF2RA): c.549G> C (p.Leu183=) single nucleotide variant Benign rs139093878 GRCh38 Chromosome Y, 1290412: 1290412
26 CSF2RA NM_006140.4(CSF2RA): c.279A> G (p.Thr93=) single nucleotide variant Benign/Likely benign rs140581875 GRCh37 Chromosome X, 1407471: 1407471
27 CSF2RA NM_006140.4(CSF2RA): c.279A> G (p.Thr93=) single nucleotide variant Benign/Likely benign rs140581875 GRCh38 Chromosome X, 1288578: 1288578
28 CSF2RA NM_006140.4(CSF2RA): c.279A> G (p.Thr93=) single nucleotide variant Benign/Likely benign rs140581875 GRCh38 Chromosome Y, 1288578: 1288578
29 CSF2RA NM_006140.4(CSF2RA): c.279A> G (p.Thr93=) single nucleotide variant Benign/Likely benign rs140581875 GRCh37 Chromosome Y, 1357471: 1357471
30 CSF2RA NM_006140.4(CSF2RA): c.647-7G> A single nucleotide variant Benign/Likely benign rs189869234 GRCh37 Chromosome X, 1413214: 1413214
31 CSF2RA NM_006140.4(CSF2RA): c.647-7G> A single nucleotide variant Benign/Likely benign rs189869234 GRCh38 Chromosome X, 1294321: 1294321
32 CSF2RA NM_006140.4(CSF2RA): c.647-7G> A single nucleotide variant Benign/Likely benign rs189869234 GRCh37 Chromosome Y, 1363214: 1363214
33 CSF2RA NM_006140.4(CSF2RA): c.647-7G> A single nucleotide variant Benign/Likely benign rs189869234 GRCh38 Chromosome Y, 1294321: 1294321
34 CSF2RA NM_006140.4(CSF2RA): c.223A> G (p.Ser75Gly) single nucleotide variant Benign rs149059494 GRCh37 Chromosome X, 1407415: 1407415
35 CSF2RA NM_006140.4(CSF2RA): c.223A> G (p.Ser75Gly) single nucleotide variant Benign rs149059494 GRCh38 Chromosome X, 1288522: 1288522
36 CSF2RA NM_006140.4(CSF2RA): c.223A> G (p.Ser75Gly) single nucleotide variant Benign rs149059494 GRCh37 Chromosome Y, 1357415: 1357415
37 CSF2RA NM_006140.4(CSF2RA): c.953A> T (p.Asp318Val) single nucleotide variant Uncertain significance rs374398870 GRCh37 Chromosome X, 1422822: 1422822
38 CSF2RA NM_006140.4(CSF2RA): c.953A> T (p.Asp318Val) single nucleotide variant Uncertain significance rs374398870 GRCh38 Chromosome X, 1303929: 1303929
39 CSF2RA NM_006140.4(CSF2RA): c.953A> T (p.Asp318Val) single nucleotide variant Uncertain significance rs374398870 GRCh37 Chromosome Y, 1372822: 1372822
40 CSF2RA NM_006140.4(CSF2RA): c.668A> G (p.Asn223Ser) single nucleotide variant Uncertain significance rs768648388 GRCh37 Chromosome X, 1413242: 1413242
41 CSF2RA NM_006140.4(CSF2RA): c.668A> G (p.Asn223Ser) single nucleotide variant Uncertain significance rs768648388 GRCh38 Chromosome X, 1294349: 1294349
42 CSF2RA NM_006140.4(CSF2RA): c.668A> G (p.Asn223Ser) single nucleotide variant Uncertain significance rs768648388 GRCh38 Chromosome Y, 1294349: 1294349
43 CSF2RA NM_006140.4(CSF2RA): c.668A> G (p.Asn223Ser) single nucleotide variant Uncertain significance rs768648388 GRCh37 Chromosome Y, 1363242: 1363242
44 CSF2RA NM_006140.4(CSF2RA): c.997G> A (p.Val333Met) single nucleotide variant Likely benign rs150290042 GRCh37 Chromosome X, 1422866: 1422866
45 CSF2RA NM_006140.4(CSF2RA): c.997G> A (p.Val333Met) single nucleotide variant Likely benign rs150290042 GRCh38 Chromosome X, 1303973: 1303973
46 CSF2RA NM_006140.4(CSF2RA): c.997G> A (p.Val333Met) single nucleotide variant Likely benign rs150290042 GRCh37 Chromosome Y, 1372866: 1372866
47 CSF2RA NM_006140.4(CSF2RA): c.997G> A (p.Val333Met) single nucleotide variant Likely benign rs150290042 GRCh38 Chromosome Y, 1303973: 1303973
48 CSF2RA NM_006140.4(CSF2RA): c.972T> G (p.Ser324=) single nucleotide variant Likely benign rs372852278 GRCh37 Chromosome X, 1422841: 1422841
49 CSF2RA NM_006140.4(CSF2RA): c.972T> G (p.Ser324=) single nucleotide variant Likely benign rs372852278 GRCh38 Chromosome X, 1303948: 1303948
50 CSF2RA NM_006140.4(CSF2RA): c.972T> G (p.Ser324=) single nucleotide variant Likely benign rs372852278 GRCh38 Chromosome Y, 1303948: 1303948

Expression for Surfactant Metabolism Dysfunction, Pulmonary, 4

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Pathways for Surfactant Metabolism Dysfunction, Pulmonary, 4

GO Terms for Surfactant Metabolism Dysfunction, Pulmonary, 4

Sources for Surfactant Metabolism Dysfunction, Pulmonary, 4

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