SMDP4
MCID: SRF008
MIFTS: 30

Surfactant Metabolism Dysfunction, Pulmonary, 4 (SMDP4)

Categories: Genetic diseases, Metabolic diseases, Rare diseases, Respiratory 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 70
Pap Due to Csf2ra Deficiency 57 72
Csf2ra Deficiency 57 72
Smdp4 57 72
Surfactant Metabolism Dysfunction, Pulmonary, Type 4 39
Pulmonary Alveolar Proteinosis, Congenital, 4 57
Pulmonary Surfactant Metabolism Dysfunction 4 72
Congenital Pulmonary Alveolar Proteinosis 4 72
Pap 72

Characteristics:

HPO:

31
surfactant metabolism dysfunction, pulmonary, 4:
Inheritance x-linked inheritance


Classifications:



External Ids:

OMIM® 57 300770
OMIM Phenotypic Series 57 PS265120
MeSH 44 D011649
MedGen 41 C2677877
UMLS 70 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) (Updated 05-Apr-2021)

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 Subunit Alpha). Related phenotypes are failure to thrive and ground-glass opacification on pulmonary hrct

UniProtKB/Swiss-Prot : 72 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, 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, 4 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 381)
# Related Disease Score Top Affiliating Genes
1 pulmonary alveolar proteinosis, acquired 11.6
2 surfactant metabolism dysfunction, pulmonary, 5 11.3
3 surfactant metabolism dysfunction, pulmonary, 1 11.3
4 cervical cancer 11.2
5 polydactyly, postaxial, type a1 11.2
6 congenital pulmonary alveolar proteinosis 11.2
7 pituitary adenoma 1, multiple types 11.0
8 polydactyly, postaxial, type a10 11.0
9 secondary pulmonary alveolar proteinosis 10.9
10 vaginal cancer 10.9
11 human papillomavirus infectious disease 10.9
12 surfactant metabolism dysfunction, pulmonary, 2 10.9
13 surfactant metabolism dysfunction, pulmonary, 3 10.9
14 interstitial lung and liver disease 10.9
15 cervix disease 10.9
16 chondrodysplasia with joint dislocations, gpapp type 10.9
17 mycoplasma pneumoniae pneumonia 10.9
18 cervix uteri carcinoma in situ 10.8
19 cervical intraepithelial neoplasia 10.8
20 sleep apnea 10.5
21 squamous cell papilloma 10.5
22 papilloma 10.5
23 suppressor of tumorigenicity 3 10.5
24 pancreatitis 10.5
25 adenocarcinoma in situ 10.4
26 pyelonephritis 10.4
27 chlamydia 10.4
28 in situ carcinoma 10.4
29 endometrial cancer 10.4
30 acute pancreatitis 10.3
31 bacterial vaginosis 10.3
32 adenocarcinoma 10.3
33 prostatic hypertrophy 10.3
34 endometrial adenocarcinoma 10.3
35 cervicitis 10.3
36 vaginal discharge 10.3
37 anus cancer 10.2
38 vaginitis 10.2
39 cystic fibrosis 10.2
40 endocervical adenocarcinoma 10.2
41 fibrosis of extraocular muscles, congenital, 1 10.2
42 acute cystitis 10.2
43 immune deficiency disease 10.2
44 endometrial hyperplasia 10.2
45 candidiasis 10.1
46 cystitis 10.1
47 trichomoniasis 10.1
48 cervical adenocarcinoma 10.1
49 cervical squamous cell carcinoma 10.1
50 multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly 10.1

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

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

31 (show all 8)
# Description HPO Frequency HPO Source Accession
1 failure to thrive 31 very rare (1%) HP:0001508
2 ground-glass opacification on pulmonary hrct 31 very rare (1%) HP:0025179
3 decreased dlco 31 very rare (1%) HP:0045051
4 reduced forced vital capacity 31 very rare (1%) HP:0032341
5 reduced forced expiratory volume in one second 31 very rare (1%) HP:0032342
6 tachypnea 31 HP:0002789
7 restrictive ventilatory defect 31 HP:0002091
8 intraalveolar phospholipid accumulation 31 HP:0006517

Clinical features from OMIM®:

300770 (Updated 05-Apr-2021)

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

Publications for Surfactant Metabolism Dysfunction, Pulmonary, 4

Articles related to Surfactant Metabolism Dysfunction, Pulmonary, 4:

# Title Authors PMID Year
1
Pulmonary alveolar proteinosis caused by deletion of the GM-CSFRalpha gene in the X chromosome pseudoautosomal region 1. 6 57
18955567 2008
2
Familial pulmonary alveolar proteinosis caused by mutations in CSF2RA. 57 6
18955570 2008
3
Characterization of CSF2RA mutation related juvenile pulmonary alveolar proteinosis. 6
25425184 2014
4
Pulmonary macrophage transplantation therapy. 57
25274301 2014
5
Function and Safety of Lentivirus-Mediated Gene Transfer for CSF2RA-Deficiency. 61
28854814 2017
6
Gene correction of human induced pluripotent stem cells repairs the cellular phenotype in pulmonary alveolar proteinosis. 61
24279725 2014

Variations for Surfactant Metabolism Dysfunction, Pulmonary, 4

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

6 (show top 50) (show all 92)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CSF2RA and overlap with 1 gene(s) NG_012280.1:g.(22122_24720)_(45680_?)del Deletion Pathogenic 10354 GRCh37:
GRCh38: X:1285921-1309479
2 CSF2RA NM_172245.4(CSF2RA):c.586G>A (p.Gly196Arg) SNV Pathogenic 10355 rs137852353 GRCh37: Y:1359342-1359342
GRCh38: X:1290449-1290449
3 CSF2RA NM_172245.4(CSF2RA):c.368_377del (p.Asn123fs) Deletion Pathogenic 839421 GRCh37: X:1407676-1407685
GRCh38: X:1288783-1288792
4 CSF2RA NM_172245.4(CSF2RA):c.610C>T (p.Gln204Ter) SNV Pathogenic 847249 GRCh37: X:1409366-1409366
GRCh38: X:1290473-1290473
5 CSF2RA NM_172245.4(CSF2RA):c.595C>T (p.Arg199Ter) SNV Pathogenic 856809 GRCh37: X:1409351-1409351
GRCh38: X:1290458-1290458
6 CSF2RA NM_172245.4(CSF2RA):c.926G>A (p.Trp309Ter) SNV Pathogenic 1033074 GRCh37: X:1419499-1419499
GRCh38: X:1300606-1300606
7 CSF2RA NM_172245.4(CSF2RA):c.780+3C>T SNV Uncertain significance 1043764 GRCh37: X:1413357-1413357
GRCh38: X:1294464-1294464
8 CSF2RA NM_172245.4(CSF2RA):c.1129A>C (p.Ile377Leu) SNV Uncertain significance 1044720 GRCh37: X:1428298-1428298
GRCh38: X:1309405-1309405
9 CSF2RA NM_172245.4(CSF2RA):c.780+4G>A SNV Uncertain significance 840750 GRCh37: X:1413358-1413358
GRCh38: X:1294465-1294465
10 CSF2RA NM_172245.4(CSF2RA):c.625C>G (p.Leu209Val) SNV Uncertain significance 939982 GRCh37: X:1409381-1409381
GRCh38: X:1290488-1290488
11 CSF2RA NM_172245.4(CSF2RA):c.21C>A (p.Ser7Arg) SNV Uncertain significance 948700 GRCh37: X:1401617-1401617
GRCh38: X:1282724-1282724
12 CSF2RA NM_172245.4(CSF2RA):c.428C>T (p.Thr143Met) SNV Uncertain significance 951233 GRCh37: X:1407736-1407736
GRCh38: X:1288843-1288843
13 CSF2RA NM_172245.4(CSF2RA):c.436C>T (p.Arg146Cys) SNV Uncertain significance 957960 GRCh37: X:1407744-1407744
GRCh38: X:1288851-1288851
14 CSF2RA NM_172245.4(CSF2RA):c.208G>A (p.Val70Met) SNV Uncertain significance 958885 GRCh37: X:1404802-1404802
GRCh38: X:1285909-1285909
15 CSF2RA NM_172245.4(CSF2RA):c.952G>A (p.Asp318Asn) SNV Uncertain significance 965748 GRCh37: X:1422821-1422821
GRCh38: X:1303928-1303928
16 CSF2RA NM_172245.4(CSF2RA):c.131C>T (p.Thr44Met) SNV Uncertain significance 971904 GRCh37: X:1404725-1404725
GRCh38: X:1285832-1285832
17 CSF2RA NM_172245.4(CSF2RA):c.953A>T (p.Asp318Val) SNV Uncertain significance 469627 rs374398870 GRCh37: Y:1372822-1372822
GRCh38: X:1303929-1303929
18 CSF2RA NM_172245.4(CSF2RA):c.668A>G (p.Asn223Ser) SNV Uncertain significance 537341 rs768648388 GRCh37: Y:1363242-1363242
GRCh38: X:1294349-1294349
19 CSF2RA NM_172245.4(CSF2RA):c.191A>G (p.Asp64Gly) SNV Uncertain significance 573103 rs150743648 GRCh37: X:1404785-1404785
GRCh38: X:1285892-1285892
20 CSF2RA NM_172245.4(CSF2RA):c.1006C>G (p.Leu336Val) SNV Uncertain significance 575181 rs143480669 GRCh37: X:1422875-1422875
GRCh38: Y:1303982-1303982
21 CSF2RA NM_172245.4(CSF2RA):c.1016G>T (p.Gly339Val) SNV Uncertain significance 581694 rs760207183 GRCh37: Y:1372885-1372885
GRCh38: X:1303992-1303992
22 CSF2RA NM_006140.5(CSF2RA):c.912G>C (p.Leu304Phe) SNV Uncertain significance 641107 rs764261104 GRCh37: X:1419485-1419485
GRCh38: Y:1300592-1300592
23 CSF2RA NM_172245.4(CSF2RA):c.596G>A (p.Arg199Gln) SNV Uncertain significance 643496 rs144461826 GRCh37: X:1409352-1409352
GRCh38: Y:1290459-1290459
24 CSF2RA NM_172245.4(CSF2RA):c.163A>G (p.Thr55Ala) SNV Uncertain significance 644683 rs759542097 GRCh37: X:1404757-1404757
GRCh38: Y:1285864-1285864
25 CSF2RA NM_172245.4(CSF2RA):c.1055T>G (p.Ile352Arg) SNV Uncertain significance 646177 rs1310278957 GRCh37: X:1424350-1424350
GRCh38: Y:1305457-1305457
26 CSF2RA NM_172245.4(CSF2RA):c.1061G>A (p.Arg354Gln) SNV Uncertain significance 646249 rs144555820 GRCh37: X:1424356-1424356
GRCh38: Y:1305463-1305463
27 CSF2RA NM_172245.4(CSF2RA):c.1156G>A (p.Gly386Arg) SNV Uncertain significance 646651 rs772019564 GRCh37: X:1428325-1428325
GRCh38: Y:1309432-1309432
28 CSF2RA NM_172245.4(CSF2RA):c.337A>T (p.Asn113Tyr) SNV Uncertain significance 647316 rs1603428019 GRCh37: X:1407529-1407529
GRCh38: Y:1288636-1288636
29 CSF2RA NM_172245.4(CSF2RA):c.69G>T (p.Glu23Asp) SNV Uncertain significance 648823 rs1603424196 GRCh37: X:1401665-1401665
GRCh38: Y:1282772-1282772
30 CSF2RA NM_172245.4(CSF2RA):c.352G>T (p.Gly118Cys) SNV Uncertain significance 649317 rs756668034 GRCh37: X:1407660-1407660
GRCh38: Y:1288767-1288767
31 CSF2RA NM_172245.4(CSF2RA):c.565C>T (p.Arg189Cys) SNV Uncertain significance 657444 rs141694686 GRCh37: X:1409321-1409321
GRCh38: Y:1290428-1290428
32 CSF2RA NM_172245.4(CSF2RA):c.496C>T (p.Pro166Ser) SNV Uncertain significance 657884 rs1603429177 GRCh37: X:1409252-1409252
GRCh38: Y:1290359-1290359
33 CSF2RA NM_172245.4(CSF2RA):c.1168C>G (p.Arg390Gly) SNV Uncertain significance 661286 rs150603886 GRCh37: X:1428337-1428337
GRCh38: Y:1309444-1309444
34 CSF2RA NM_172245.4(CSF2RA):c.1034T>C (p.Leu345Pro) SNV Uncertain significance 661944 rs138753301 GRCh37: X:1422903-1422903
GRCh38: Y:1304010-1304010
35 CSF2RA NM_172245.4(CSF2RA):c.706C>T (p.Arg236Trp) SNV Uncertain significance 569285 rs200071635 GRCh37: X:1413280-1413280
GRCh38: X:1294387-1294387
36 CSF2RA NM_172245.4(CSF2RA):c.676G>A (p.Val226Ile) SNV Uncertain significance 571570 rs181719822 GRCh37: Y:1363250-1363250
GRCh38: X:1294357-1294357
37 CSF2RA NM_172245.4(CSF2RA):c.530G>A (p.Gly177Glu) SNV Uncertain significance 577632 rs142203271 GRCh37: X:1409286-1409286
GRCh38: X:1290393-1290393
38 CSF2RA NM_172245.4(CSF2RA):c.242G>A (p.Cys81Tyr) SNV Uncertain significance 836286 GRCh37: X:1407434-1407434
GRCh38: X:1288541-1288541
39 CSF2RA NM_172245.4(CSF2RA):c.789G>C (p.Gln263His) SNV Uncertain significance 843537 GRCh37: X:1414328-1414328
GRCh38: X:1295435-1295435
40 CSF2RA NM_172245.4(CSF2RA):c.1064T>C (p.Leu355Pro) SNV Uncertain significance 845330 GRCh37: X:1424359-1424359
GRCh38: X:1305466-1305466
41 CSF2RA NM_172245.4(CSF2RA):c.343+5G>A SNV Uncertain significance 845492 GRCh37: X:1407540-1407540
GRCh38: X:1288647-1288647
42 CSF2RA NM_172245.4(CSF2RA):c.1070C>T (p.Pro357Leu) SNV Uncertain significance 945785 GRCh37: X:1424365-1424365
GRCh38: X:1305472-1305472
43 CSF2RA NM_172245.4(CSF2RA):c.144C>G (p.Ser48Arg) SNV Uncertain significance 958246 GRCh37: X:1404738-1404738
GRCh38: X:1285845-1285845
44 CSF2RA NM_172245.4(CSF2RA):c.682T>C (p.Cys228Arg) SNV Uncertain significance 962606 GRCh37: X:1413256-1413256
GRCh38: X:1294363-1294363
45 CSF2RA NM_172245.4(CSF2RA):c.1044-3C>G SNV Uncertain significance 966066 GRCh37: X:1424336-1424336
GRCh38: X:1305443-1305443
46 CSF2RA NM_172245.4(CSF2RA):c.83G>C (p.Arg28Pro) SNV Uncertain significance 969492 GRCh37: X:1404677-1404677
GRCh38: X:1285784-1285784
47 CSF2RA NM_172245.4(CSF2RA):c.442G>A (p.Val148Ile) SNV Uncertain significance 1009889 GRCh37: X:1407750-1407750
GRCh38: X:1288857-1288857
48 CSF2RA NM_172245.4(CSF2RA):c.232G>A (p.Glu78Lys) SNV Uncertain significance 641401 rs753067685 GRCh37: X:1407424-1407424
GRCh38: Y:1288531-1288531
49 CSF2RA NM_172245.4(CSF2RA):c.530G>C (p.Gly177Ala) SNV Uncertain significance 643235 rs142203271 GRCh37: X:1409286-1409286
GRCh38: Y:1290393-1290393
50 CSF2RA NM_172245.4(CSF2RA):c.601A>C (p.Ile201Leu) SNV Uncertain significance 855028 GRCh37: X:1409357-1409357
GRCh38: X:1290464-1290464

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

72
# Symbol AA change Variation ID SNP ID
1 CSF2RA p.Gly196Arg VAR_058507 rs137852353

Expression for Surfactant Metabolism Dysfunction, Pulmonary, 4

Search GEO for disease gene expression data for Surfactant Metabolism Dysfunction, Pulmonary, 4.

Pathways for Surfactant Metabolism Dysfunction, Pulmonary, 4

GO Terms for Surfactant Metabolism Dysfunction, Pulmonary, 4

Sources for Surfactant Metabolism Dysfunction, Pulmonary, 4

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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