SMDP3
MCID: SRF005
MIFTS: 38

Surfactant Metabolism Dysfunction, Pulmonary, 3 (SMDP3)

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

Aliases & Classifications for Surfactant Metabolism Dysfunction, Pulmonary, 3

MalaCards integrated aliases for Surfactant Metabolism Dysfunction, Pulmonary, 3:

Name: Surfactant Metabolism Dysfunction, Pulmonary, 3 57 29 13 6 70
Interstitial Lung Disease Due to Abca3 Deficiency 57 58 72
Smdp3 57 72
Interstitial Lung Disease Due to Atp-Binding Cassette Subfamily a Member 3 Deficiency 58
Surfactant Metabolism Dysfunction, Pulmonary, Type 3 39
Pulmonary Alveolar Proteinosis, Congenital, 3 57
Pulmonary Surfactant Metabolism Dysfunction 3 72
Congenital Pulmonary Alveolar Proteinosis 3 72
Pap 72

Characteristics:

Orphanet epidemiological data:

58
interstitial lung disease due to abca3 deficiency
Inheritance: Autosomal recessive;

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

Miscellaneous:
genetic heterogeneity
onset at birth
occurs in full-term infants
most affected infants die in the first month of life


HPO:

31
surfactant metabolism dysfunction, pulmonary, 3:
Inheritance autosomal recessive inheritance heterogeneous
Onset and clinical course congenital onset


Classifications:

Orphanet: 58  
Rare respiratory diseases


External Ids:

OMIM® 57 610921
OMIM Phenotypic Series 57 PS265120
MeSH 44 D011649
ICD10 via Orphanet 33 J84.8
Orphanet 58 ORPHA440402
MedGen 41 C1970456
UMLS 70 C1970456

Summaries for Surfactant Metabolism Dysfunction, Pulmonary, 3

UniProtKB/Swiss-Prot : 72 Pulmonary surfactant metabolism dysfunction 3: 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.

MalaCards based summary : Surfactant Metabolism Dysfunction, Pulmonary, 3, also known as interstitial lung disease due to abca3 deficiency, is related to pulmonary alveolar proteinosis, acquired and surfactant metabolism dysfunction, pulmonary, 4, and has symptoms including dyspnea and apnea. An important gene associated with Surfactant Metabolism Dysfunction, Pulmonary, 3 is ABCA3 (ATP Binding Cassette Subfamily A Member 3). Affiliated tissues include lung, cervix and liver, and related phenotypes are failure to thrive and apnea

OMIM® : 57 For a general phenotypic description and a discussion of genetic heterogeneity of pulmonary surfactant metabolism dysfunction, see SMDP1 (265120). (610921) (Updated 20-May-2021)

Related Diseases for Surfactant Metabolism Dysfunction, Pulmonary, 3

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, 3 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, 4 11.5
3 pulmonary alveolar proteinosis 11.4
4 surfactant metabolism dysfunction, pulmonary, 5 11.3
5 surfactant metabolism dysfunction, pulmonary, 1 11.3
6 cervical cancer 11.2
7 polydactyly, postaxial, type a1 11.2
8 congenital pulmonary alveolar proteinosis 11.2
9 pituitary adenoma 1, multiple types 11.0
10 polydactyly, postaxial, type a10 11.0
11 secondary pulmonary alveolar proteinosis 10.9
12 vaginal cancer 10.9
13 hereditary pulmonary alveolar proteinosis 10.9
14 human papillomavirus infectious disease 10.9
15 surfactant metabolism dysfunction, pulmonary, 2 10.9
16 interstitial lung and liver disease 10.9
17 cervix disease 10.9
18 chondrodysplasia with joint dislocations, gpapp type 10.9
19 mycoplasma pneumoniae pneumonia 10.9
20 cervix uteri carcinoma in situ 10.8
21 cervical intraepithelial neoplasia 10.8
22 sleep apnea 10.6
23 squamous cell papilloma 10.5
24 papilloma 10.5
25 suppressor of tumorigenicity 3 10.5
26 adenocarcinoma in situ 10.4
27 pancreatitis 10.4
28 pyelonephritis 10.4
29 chlamydia 10.4
30 in situ carcinoma 10.4
31 endometrial cancer 10.4
32 acute pancreatitis 10.3
33 bacterial vaginosis 10.3
34 adenocarcinoma 10.3
35 prostatic hypertrophy 10.3
36 endometrial adenocarcinoma 10.3
37 cervicitis 10.3
38 vaginal discharge 10.3
39 anus cancer 10.2
40 vaginitis 10.2
41 cystic fibrosis 10.2
42 fibrosis of extraocular muscles, congenital, 1 10.2
43 endocervical adenocarcinoma 10.2
44 acute cystitis 10.2
45 immune deficiency disease 10.2
46 endometrial hyperplasia 10.2
47 candidiasis 10.1
48 cystitis 10.1
49 trichomoniasis 10.1
50 cervical adenocarcinoma 10.1

Graphical network of the top 20 diseases related to Surfactant Metabolism Dysfunction, Pulmonary, 3:



Diseases related to Surfactant Metabolism Dysfunction, Pulmonary, 3

Symptoms & Phenotypes for Surfactant Metabolism Dysfunction, Pulmonary, 3

Human phenotypes related to Surfactant Metabolism Dysfunction, Pulmonary, 3:

31 (show all 7)
# Description HPO Frequency HPO Source Accession
1 failure to thrive 31 HP:0001508
2 apnea 31 HP:0002104
3 respiratory failure 31 HP:0002878
4 tachypnea 31 HP:0002789
5 respiratory distress 31 HP:0002098
6 intraalveolar phospholipid accumulation 31 HP:0006517
7 desquamative interstitial pneumonitis 31 HP:0005942

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Growth Other:
failure to thrive

Respiratory Lung:
alveolar proteinosis
desquamative interstitial pneumonitis
alveoli filled with granular or foamy surfactant protein exudate
alveoli contain desquamated type ii pneumocytes and macrophages
type ii pneumocyte hyperplasia
more
Respiratory:
dyspnea
apnea
tachypnea
respiratory distress, severe, neonatal
respiratory failure, neonatal

Clinical features from OMIM®:

610921 (Updated 20-May-2021)

UMLS symptoms related to Surfactant Metabolism Dysfunction, Pulmonary, 3:


dyspnea; apnea

Drugs & Therapeutics for Surfactant Metabolism Dysfunction, Pulmonary, 3

Search Clinical Trials , NIH Clinical Center for Surfactant Metabolism Dysfunction, Pulmonary, 3

Genetic Tests for Surfactant Metabolism Dysfunction, Pulmonary, 3

Genetic tests related to Surfactant Metabolism Dysfunction, Pulmonary, 3:

# Genetic test Affiliating Genes
1 Surfactant Metabolism Dysfunction, Pulmonary, 3 29 ABCA3

Anatomical Context for Surfactant Metabolism Dysfunction, Pulmonary, 3

MalaCards organs/tissues related to Surfactant Metabolism Dysfunction, Pulmonary, 3:

40
Lung, Cervix, Liver, Pancreas, Myeloid, Bone, Brain

Publications for Surfactant Metabolism Dysfunction, Pulmonary, 3

Articles related to Surfactant Metabolism Dysfunction, Pulmonary, 3:

(show all 20)
# Title Authors PMID Year
1
Respiratory syncytial virus potentiates ABCA3 mutation-induced loss of lung epithelial cell differentiation. 6 57
22434821 2012
2
Population and disease-based prevalence of the common mutations associated with surfactant deficiency. 57 6
18317237 2008
3
ABCA3 deficiency presenting as persistent pulmonary hypertension of the newborn. 6 57
17719949 2007
4
ABCA3 gene mutations in newborns with fatal surfactant deficiency. 57 6
15044640 2004
5
ABCA3 missense mutations causing surfactant dysfunction disorders have distinct cellular phenotypes. 6
29505158 2018
6
Variants of the ABCA3 gene might contribute to susceptibility to interstitial lung diseases in the Chinese population. 6
28642621 2017
7
Outcomes of Lung Transplantation for Infants and Children with Genetic Disorders of Surfactant Metabolism. 6
28215425 2017
8
Functional Characterization of ATP-Binding Cassette Transporter A3 Mutations from Infants with Respiratory Distress Syndrome. 6
27374344 2016
9
ABCA3, a key player in neonatal respiratory transition and genetic disorders of the surfactant system. 6
26517903 2015
10
Structural Features of the ATP-Binding Cassette (ABC) Transporter ABCA3. 6
26295388 2015
11
Genotype-phenotype correlations for infants and children with ABCA3 deficiency. 6
24871971 2014
12
Single ABCA3 mutations increase risk for neonatal respiratory distress syndrome. 6
23166334 2012
13
Heterozygosity for E292V in ABCA3, lung function and COPD in 64,000 individuals. 6
22866751 2012
14
A child with severe pneumomediastinum and ABCA3 gene mutation: a puzzling connection. 6
22304854 2012
15
Pulmonary nodules in a newborn with ATP-binding cassette transporter A3 (ABCA3) mutations. 6
21464189 2011
16
Aberrant catalytic cycle and impaired lipid transport into intracellular vesicles in ABCA3 mutants associated with nonfatal pediatric interstitial lung disease. 6
18676873 2008
17
Clinical, radiological and pathological features of ABCA3 mutations in children. 6
18024538 2008
18
Alteration of the pulmonary surfactant system in full-term infants with hereditary ABCA3 deficiency. 57
16728712 2006
19
ABCA3 mutations associated with pediatric interstitial lung disease. 6
15976379 2005
20
New ATP-binding cassette A3 mutation causing surfactant metabolism dysfunction pulmonary type 3. 61
26508177 2015

Variations for Surfactant Metabolism Dysfunction, Pulmonary, 3

ClinVar genetic disease variations for Surfactant Metabolism Dysfunction, Pulmonary, 3:

6 (show top 50) (show all 248)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ABCA3 NM_001089.3(ABCA3):c.3426G>A (p.Trp1142Ter) SNV Pathogenic 8011 rs121909181 GRCh37: 16:2335500-2335500
GRCh38: 16:2285499-2285499
2 ABCA3 NM_001089.3(ABCA3):c.302T>C (p.Leu101Pro) SNV Pathogenic 8012 rs121909182 GRCh37: 16:2376028-2376028
GRCh38: 16:2326027-2326027
3 ABCA3 NM_001089.3(ABCA3):c.4658T>C (p.Leu1553Pro) SNV Pathogenic 8013 rs121909183 GRCh37: 16:2328349-2328349
GRCh38: 16:2278348-2278348
4 ABCA3 NM_001089.3(ABCA3):c.4772A>C (p.Gln1591Pro) SNV Pathogenic 8014 rs28936691 GRCh37: 16:2328017-2328017
GRCh38: 16:2278016-2278016
5 ABCA3 NM_001089.3(ABCA3):c.1702A>G (p.Asn568Asp) SNV Pathogenic 8015 rs121909184 GRCh37: 16:2349443-2349443
GRCh38: 16:2299442-2299442
6 ABCA3 NM_001089.3(ABCA3):c.4909+1G>A SNV Pathogenic 8016 rs1567335355 GRCh37: 16:2327879-2327879
GRCh38: 16:2277878-2277878
7 ABCA3 NM_001089.3(ABCA3):c.1939C>T (p.Gln647Ter) SNV Pathogenic 915361 GRCh37: 16:2347880-2347880
GRCh38: 16:2297879-2297879
8 ABCA3 NM_001089.3(ABCA3):c.977T>C (p.Leu326Pro) SNV Pathogenic 8017 rs121909185 GRCh37: 16:2367662-2367662
GRCh38: 16:2317661-2317661
9 ABCA3 NM_001089.3(ABCA3):c.817_821del (p.Tyr273fs) Deletion Pathogenic 619285 rs775903641 GRCh37: 16:2369634-2369638
GRCh38: 16:2319633-2319637
10 ABCA3 NM_001089.3(ABCA3):c.3659C>A (p.Ser1220Ter) SNV Pathogenic 1033685 GRCh37: 16:2334824-2334824
GRCh38: 16:2284823-2284823
11 ABCA3 NM_001089.3(ABCA3):c.875A>T (p.Glu292Val) SNV Pathogenic 203381 rs149989682 GRCh37: 16:2367764-2367764
GRCh38: 16:2317763-2317763
12 ABCA3 NM_001089.3(ABCA3):c.4545C>G (p.Tyr1515Ter) SNV Pathogenic 992982 GRCh37: 16:2328946-2328946
GRCh38: 16:2278945-2278945
13 ABCA3 NM_001089.3(ABCA3):c.3973G>A (p.Glu1325Lys) SNV Likely pathogenic 816667 rs973835010 GRCh37: 16:2333249-2333249
GRCh38: 16:2283248-2283248
14 ABCA3 NM_001089.3(ABCA3):c.3228C>G (p.Asn1076Lys) SNV Likely pathogenic 932907 GRCh37: 16:2336745-2336745
GRCh38: 16:2286744-2286744
15 ABCA3 NM_001089.3(ABCA3):c.2880G>C (p.Leu960Phe) SNV Likely pathogenic 932908 rs1022923684 GRCh37: 16:2338151-2338151
GRCh38: 16:2288150-2288150
16 ABCA3 NM_001089.3(ABCA3):c.3600CTT[3] (p.Phe1203del) Microsatellite Likely pathogenic 973875 GRCh37: 16:2334872-2334874
GRCh38: 16:2284871-2284873
17 ABCA3 NM_001089.3(ABCA3):c.3905G>A (p.Gly1302Glu) SNV Likely pathogenic 981520 GRCh37: 16:2333317-2333317
GRCh38: 16:2283316-2283316
18 ABCA3 NM_001089.3(ABCA3):c.3677T>C (p.Leu1226Pro) SNV Likely pathogenic 977799 GRCh37: 16:2334806-2334806
GRCh38: 16:2284805-2284805
19 ABCA3 NM_001089.3(ABCA3):c.233G>C (p.Trp78Ser) SNV Likely pathogenic 984944 GRCh37: 16:2376097-2376097
GRCh38: 16:2326096-2326096
20 ABCA3 NM_001089.3(ABCA3):c.367G>A (p.Asp123Asn) SNV Conflicting interpretations of pathogenicity 162676 rs145087575 GRCh37: 16:2374485-2374485
GRCh38: 16:2324484-2324484
21 ABCA3 NM_001089.3(ABCA3):c.753C>T (p.Ile251=) SNV Conflicting interpretations of pathogenicity 318568 rs146161376 GRCh37: 16:2369702-2369702
GRCh38: 16:2319701-2319701
22 ABCA3 NM_001089.3(ABCA3):c.838C>T (p.Arg280Cys) SNV Conflicting interpretations of pathogenicity 318566 rs201299260 GRCh37: 16:2369617-2369617
GRCh38: 16:2319616-2319616
23 ABCA3 NM_001089.3(ABCA3):c.2268C>T (p.Ala756=) SNV Conflicting interpretations of pathogenicity 318493 rs143552557 GRCh37: 16:2345737-2345737
GRCh38: 16:2295736-2295736
24 ABCA3 NM_001089.3(ABCA3):c.2340C>T (p.His780=) SNV Conflicting interpretations of pathogenicity 596957 rs45620539 GRCh37: 16:2345665-2345665
GRCh38: 16:2295664-2295664
25 ABCA3 NM_001089.3(ABCA3):c.3207C>T (p.His1069=) SNV Conflicting interpretations of pathogenicity 318426 rs151260964 GRCh37: 16:2336766-2336766
GRCh38: 16:2286765-2286765
26 ABCA3 NM_001089.3(ABCA3):c.4085C>T (p.Ala1362Val) SNV Conflicting interpretations of pathogenicity 694630 rs145251229 GRCh37: 16:2331461-2331461
GRCh38: 16:2281460-2281460
27 ABCA3 NM_001089.3(ABCA3):c.1465A>T (p.Met489Leu) SNV Conflicting interpretations of pathogenicity 318543 rs150543946 GRCh37: 16:2353972-2353972
GRCh38: 16:2303971-2303971
28 ABCA3 NM_001089.3(ABCA3):c.393C>T (p.Ala131=) SNV Conflicting interpretations of pathogenicity 712624 rs145383120 GRCh37: 16:2374459-2374459
GRCh38: 16:2324458-2324458
29 ABCA3 NM_001089.3(ABCA3):c.1502C>A (p.Ala501Glu) SNV Conflicting interpretations of pathogenicity 178700 rs141621969 GRCh37: 16:2350115-2350115
GRCh38: 16:2300114-2300114
30 ABCA3 NM_001089.3(ABCA3):c.2341G>A (p.Val781Met) SNV Uncertain significance 318487 rs771821923 GRCh37: 16:2345664-2345664
GRCh38: 16:2295663-2295663
31 ABCA3 NM_001089.3(ABCA3):c.2411A>G (p.His804Arg) SNV Uncertain significance 635556 rs747443485 GRCh37: 16:2345594-2345594
GRCh38: 16:2295593-2295593
32 ABCA3 NM_001089.3(ABCA3):c.4214C>T (p.Ala1405Val) SNV Uncertain significance 635559 rs149559041 GRCh37: 16:2331173-2331173
GRCh38: 16:2281172-2281172
33 ABCA3 NM_001089.3(ABCA3):c.2354C>A (p.Thr785Lys) SNV Uncertain significance 635560 rs371756212 GRCh37: 16:2345651-2345651
GRCh38: 16:2295650-2295650
34 ABCA3 NM_001089.3(ABCA3):c.863G>A (p.Arg288Lys) SNV Uncertain significance 227155 rs117603931 GRCh37: 16:2369592-2369592
GRCh38: 16:2319591-2319591
35 ABCA3 NM_001089.3(ABCA3):c.1913G>A (p.Arg638His) SNV Uncertain significance 689445 rs145269995 GRCh37: 16:2347906-2347906
GRCh38: 16:2297905-2297905
36 ABCA3 NM_001089.3(ABCA3):c.4466G>A (p.Arg1489His) SNV Uncertain significance 689465 rs557707047 GRCh37: 16:2329025-2329025
GRCh38: 16:2279024-2279024
37 ABCA3 NM_001089.3(ABCA3):c.1313T>C (p.Leu438Pro) SNV Uncertain significance 816672 rs761336277 GRCh37: 16:2354124-2354124
GRCh38: 16:2304123-2304123
38 ABCA3 NM_001089.3(ABCA3):c.4979C>T (p.Ala1660Val) SNV Uncertain significance 816678 rs146651498 GRCh37: 16:2327602-2327602
GRCh38: 16:2277601-2277601
39 ABCA3 NM_001089.3(ABCA3):c.2296C>T (p.Pro766Ser) SNV Uncertain significance 178696 rs45592239 GRCh37: 16:2345709-2345709
GRCh38: 16:2295708-2295708
40 ABCA3 NM_001089.3(ABCA3):c.5C>A (p.Ala2Asp) SNV Uncertain significance 737671 rs148662935 GRCh37: 16:2376463-2376463
GRCh38: 16:2326462-2326462
41 ABCA3 NM_001089.3(ABCA3):c.2012G>A (p.Arg671His) SNV Uncertain significance 988017 GRCh37: 16:2347807-2347807
GRCh38: 16:2297806-2297806
42 ABCA3 NM_001089.3(ABCA3):c.3633G>A (p.Thr1211=) SNV Uncertain significance 996086 GRCh37: 16:2334850-2334850
GRCh38: 16:2284849-2284849
43 ABCA3 NM_001089.3(ABCA3):c.3613G>A (p.Gly1205Arg) SNV Uncertain significance 884386 GRCh37: 16:2334870-2334870
GRCh38: 16:2284869-2284869
44 ABCA3 NM_001089.3(ABCA3):c.4944C>T (p.Val1648=) SNV Uncertain significance 787641 rs142584479 GRCh37: 16:2327637-2327637
GRCh38: 16:2277636-2277636
45 ABCA3 NM_001089.3(ABCA3):c.2173G>A (p.Glu725Lys) SNV Uncertain significance 1031071 GRCh37: 16:2347420-2347420
GRCh38: 16:2297419-2297419
46 ABCA3 NM_001089.3(ABCA3):c.2534G>A (p.Ser845Asn) SNV Uncertain significance 973885 GRCh37: 16:2339601-2339601
GRCh38: 16:2289600-2289600
47 ABCA3 NM_001089.3(ABCA3):c.1595T>C (p.Ile532Thr) SNV Uncertain significance 932919 GRCh37: 16:2350022-2350022
GRCh38: 16:2300021-2300021
48 ABCA3 NM_001089.3(ABCA3):c.2003G>A (p.Gly668Asp) SNV Uncertain significance 88775 rs397518427 GRCh37: 16:2347816-2347816
GRCh38: 16:2297815-2297815
49 ABCA3 NM_001089.3(ABCA3):c.1127C>T (p.Ala376Val) SNV Uncertain significance 973870 GRCh37: 16:2358609-2358609
GRCh38: 16:2308608-2308608
50 ABCA3 NM_001089.3(ABCA3):c.2309C>T (p.Pro770Leu) SNV Uncertain significance 318489 rs143929832 GRCh37: 16:2345696-2345696
GRCh38: 16:2295695-2295695

UniProtKB/Swiss-Prot genetic disease variations for Surfactant Metabolism Dysfunction, Pulmonary, 3:

72
# Symbol AA change Variation ID SNP ID
1 ABCA3 p.Leu101Pro VAR_023497 rs121909182
2 ABCA3 p.Asn568Asp VAR_023498 rs121909184
3 ABCA3 p.Leu1553Pro VAR_023499 rs121909183
4 ABCA3 p.Gln1591Pro VAR_023500 rs28936691

Expression for Surfactant Metabolism Dysfunction, Pulmonary, 3

Search GEO for disease gene expression data for Surfactant Metabolism Dysfunction, Pulmonary, 3.

Pathways for Surfactant Metabolism Dysfunction, Pulmonary, 3

GO Terms for Surfactant Metabolism Dysfunction, Pulmonary, 3

Sources for Surfactant Metabolism Dysfunction, Pulmonary, 3

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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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