MCID: SRF005
MIFTS: 28

Surfactant Metabolism Dysfunction, Pulmonary, 3

Categories: Genetic diseases, Respiratory diseases, Rare diseases, Metabolic 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 73
Interstitial Lung Disease Due to Abca3 Deficiency 57 59 75
Smdp3 57 75
Interstitial Lung Disease Due to Atp-Binding Cassette Subfamily a Member 3 Deficiency 59
Surfactant Metabolism Dysfunction, Pulmonary, Type 3 40
Pulmonary Alveolar Proteinosis, Congenital, 3 57
Pulmonary Surfactant Metabolism Dysfunction 3 75
Congenital Pulmonary Alveolar Proteinosis 3 75
Pap 75

Characteristics:

Orphanet epidemiological data:

59
interstitial lung disease due to abca3 deficiency
Inheritance: Autosomal recessive;

OMIM:

57
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:

32
surfactant metabolism dysfunction, pulmonary, 3:
Onset and clinical course congenital onset
Inheritance heterogeneous autosomal recessive inheritance


Classifications:

Orphanet: 59  
Rare respiratory diseases


Summaries for Surfactant Metabolism Dysfunction, Pulmonary, 3

UniProtKB/Swiss-Prot : 75 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 apnea and dyspnea. An important gene associated with Surfactant Metabolism Dysfunction, Pulmonary, 3 is ABCA3 (ATP Binding Cassette Subfamily A Member 3). Affiliated tissues include lung, and related phenotypes are failure to thrive and respiratory distress

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

Related Diseases for Surfactant Metabolism Dysfunction, Pulmonary, 3

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, 3 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, 4 11.7
3 surfactant metabolism dysfunction, pulmonary, 5 11.6
4 surfactant metabolism dysfunction, pulmonary, 1 11.5
5 pulmonary alveolar proteinosis 11.3
6 cervical cancer 11.3
7 vaginal cancer 11.2
8 pituitary adenoma 1, multiple types 11.0
9 polydactyly, postaxial, type a1 10.8
10 cervix disease 10.8
11 brachyolmia type 1, toledo type 10.8
12 surfactant metabolism dysfunction, pulmonary, 2 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, 3:



Diseases related to Surfactant Metabolism Dysfunction, Pulmonary, 3

Symptoms & Phenotypes for Surfactant Metabolism Dysfunction, Pulmonary, 3

Symptoms via clinical synopsis from OMIM:

57
Growth Other:
failure to thrive

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


Clinical features from OMIM:

610921

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

32 (show all 7)
# Description HPO Frequency HPO Source Accession
1 failure to thrive 32 HP:0001508
2 respiratory distress 32 HP:0002098
3 apnea 32 HP:0002104
4 respiratory failure 32 HP:0002878
5 tachypnea 32 HP:0002789
6 alveolar proteinosis 32 HP:0006517
7 desquamative interstitial pneumonitis 32 HP:0005942

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


apnea, dyspnea

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:

41
Lung

Publications for Surfactant Metabolism Dysfunction, Pulmonary, 3

Articles related to Surfactant Metabolism Dysfunction, Pulmonary, 3:

# Title Authors Year
1
New ATP-binding cassette A3 mutation causing surfactant metabolism dysfunction pulmonary type 3. ( 26508177 )
2015

Variations for Surfactant Metabolism Dysfunction, Pulmonary, 3

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

75
# 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

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

6
(show all 19)
# Gene Variation Type Significance SNP ID Assembly Location
1 ABCA3 NM_001089.2(ABCA3): c.3426G> A (p.Trp1142Ter) single nucleotide variant Pathogenic rs121909181 GRCh37 Chromosome 16, 2335500: 2335500
2 ABCA3 NM_001089.2(ABCA3): c.3426G> A (p.Trp1142Ter) single nucleotide variant Pathogenic rs121909181 GRCh38 Chromosome 16, 2285499: 2285499
3 ABCA3 NM_001089.2(ABCA3): c.302T> C (p.Leu101Pro) single nucleotide variant Pathogenic rs121909182 GRCh37 Chromosome 16, 2376028: 2376028
4 ABCA3 NM_001089.2(ABCA3): c.302T> C (p.Leu101Pro) single nucleotide variant Pathogenic rs121909182 GRCh38 Chromosome 16, 2326027: 2326027
5 ABCA3 NM_001089.2(ABCA3): c.4658T> C (p.Leu1553Pro) single nucleotide variant Pathogenic rs121909183 GRCh37 Chromosome 16, 2328349: 2328349
6 ABCA3 NM_001089.2(ABCA3): c.4658T> C (p.Leu1553Pro) single nucleotide variant Pathogenic rs121909183 GRCh38 Chromosome 16, 2278348: 2278348
7 ABCA3 NM_001089.2(ABCA3): c.4772A> C (p.Gln1591Pro) single nucleotide variant Pathogenic rs28936691 GRCh37 Chromosome 16, 2328017: 2328017
8 ABCA3 NM_001089.2(ABCA3): c.4772A> C (p.Gln1591Pro) single nucleotide variant Pathogenic rs28936691 GRCh38 Chromosome 16, 2278016: 2278016
9 ABCA3 NM_001089.2(ABCA3): c.1702A> G (p.Asn568Asp) single nucleotide variant Pathogenic rs121909184 GRCh37 Chromosome 16, 2349443: 2349443
10 ABCA3 NM_001089.2(ABCA3): c.1702A> G (p.Asn568Asp) single nucleotide variant Pathogenic rs121909184 GRCh38 Chromosome 16, 2299442: 2299442
11 ABCA3 ABCA3, 4909, G-A, +1 single nucleotide variant Pathogenic
12 ABCA3 NM_001089.2(ABCA3): c.875A> T (p.Glu292Val) single nucleotide variant Pathogenic/Likely pathogenic rs149989682 GRCh38 Chromosome 16, 2317763: 2317763
13 ABCA3 NM_001089.2(ABCA3): c.875A> T (p.Glu292Val) single nucleotide variant Pathogenic/Likely pathogenic rs149989682 GRCh37 Chromosome 16, 2367764: 2367764
14 ABCA3 NM_001089.2(ABCA3): c.2815C> A (p.Leu939Met) single nucleotide variant Uncertain significance GRCh37 Chromosome 16, 2338216: 2338216
15 ABCA3 NM_001089.2(ABCA3): c.2815C> A (p.Leu939Met) single nucleotide variant Uncertain significance GRCh38 Chromosome 16, 2288215: 2288215
16 ABCA3 NM_001089.2(ABCA3): c.3311T> G (p.Leu1104Arg) single nucleotide variant Uncertain significance GRCh38 Chromosome 16, 2285614: 2285614
17 ABCA3 NM_001089.2(ABCA3): c.3311T> G (p.Leu1104Arg) single nucleotide variant Uncertain significance GRCh37 Chromosome 16, 2335615: 2335615
18 ABCA3 NM_001089.2(ABCA3): c.1891G> A (p.Ala631Thr) single nucleotide variant Likely pathogenic rs139738862 GRCh38 Chromosome 16, 2298391: 2298391
19 ABCA3 NM_001089.2(ABCA3): c.1891G> A (p.Ala631Thr) single nucleotide variant Likely pathogenic rs139738862 GRCh37 Chromosome 16, 2348392: 2348392

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
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10 dbSNP
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17 ExPASy
19 FMA
28 GO
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62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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