SMDP3
MCID: SRF005
MIFTS: 32

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 58 30 13 6 74
Interstitial Lung Disease Due to Abca3 Deficiency 58 60 76
Smdp3 58 76
Interstitial Lung Disease Due to Atp-Binding Cassette Subfamily a Member 3 Deficiency 60
Surfactant Metabolism Dysfunction, Pulmonary, Type 3 41
Pulmonary Alveolar Proteinosis, Congenital, 3 58
Pulmonary Surfactant Metabolism Dysfunction 3 76
Congenital Pulmonary Alveolar Proteinosis 3 76
Pap 76

Characteristics:

Orphanet epidemiological data:

60
interstitial lung disease due to abca3 deficiency
Inheritance: Autosomal recessive;

OMIM:

58
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:

33
surfactant metabolism dysfunction, pulmonary, 3:
Onset and clinical course congenital onset
Inheritance heterogeneous autosomal recessive inheritance


Classifications:

Orphanet: 60  
Rare respiratory diseases


Summaries for Surfactant Metabolism Dysfunction, Pulmonary, 3

UniProtKB/Swiss-Prot : 76 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 cervix, prostate and heart, and related phenotypes are failure to thrive and respiratory distress

OMIM : 58 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 159)
# Related Disease Score Top Affiliating Genes
1 pulmonary alveolar proteinosis, acquired 12.0
2 surfactant metabolism dysfunction, pulmonary, 4 11.9
3 surfactant metabolism dysfunction, pulmonary, 5 11.8
4 surfactant metabolism dysfunction, pulmonary, 1 11.7
5 pulmonary alveolar proteinosis 11.5
6 cervical cancer 11.5
7 polydactyly, postaxial, type a1 11.3
8 vaginal cancer 11.3
9 secondary pulmonary alveolar proteinosis 11.3
10 pituitary adenoma 1, multiple types 11.2
11 brachyolmia type 1, toledo type 11.0
12 surfactant metabolism dysfunction, pulmonary, 2 11.0
13 interstitial lung and liver disease 11.0
14 mycoplasma pneumoniae pneumonia 11.0
15 cervix disease 11.0
16 congenital pulmonary alveolar proteinosis 11.0
17 hereditary pulmonary alveolar proteinosis 11.0
18 cervical intraepithelial neoplasia 10.5
19 adenocarcinoma 10.4
20 pancreatitis 10.3
21 prostate cancer 10.3
22 sleep apnea 10.3
23 squamous cell papilloma 10.3
24 papilloma 10.3
25 bacterial vaginosis 10.2
26 ankyloblepharon filiforme adnatum and cleft palate 10.2
27 prostate cancer, hereditary, 8 10.2
28 prostate cancer, hereditary, 6 10.2
29 chlamydia 10.2
30 suppressor of tumorigenicity 3 10.1
31 adenocarcinoma in situ 10.1
32 lymphoma 10.1
33 anus cancer 10.1
34 cystic fibrosis 10.0
35 breast reconstruction 10.0
36 endocervical adenocarcinoma 10.0
37 pyelonephritis 10.0
38 acute pancreatitis 10.0
39 antiphospholipid syndrome 10.0
40 endometrial cancer 10.0
41 small cell carcinoma 10.0
42 anogenital venereal wart 10.0
43 squamous cell carcinoma 10.0
44 vaginitis 10.0
45 endometrial adenocarcinoma 10.0
46 cervical adenocarcinoma 10.0
47 achondroplasia 9.9
48 breast cancer 9.9
49 laryngeal adductor paralysis 9.9
50 systemic lupus erythematosus 9.9

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:

33 (show all 7)
# Description HPO Frequency HPO Source Accession
1 failure to thrive 33 HP:0001508
2 respiratory distress 33 HP:0002098
3 apnea 33 HP:0002104
4 respiratory failure 33 HP:0002878
5 tachypnea 33 HP:0002789
6 alveolar proteinosis 33 HP:0006517
7 desquamative interstitial pneumonitis 33 HP:0005942

Symptoms via clinical synopsis from OMIM:

58
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

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 30 ABCA3

Anatomical Context for Surfactant Metabolism Dysfunction, Pulmonary, 3

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

42
Cervix, Prostate, Heart, Pituitary

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
2
ABCA3 deficiency presenting as persistent pulmonary hypertension of the newborn. ( 17719949 )
2007
3
ABCA3 gene mutations in newborns with fatal surfactant deficiency. ( 15044640 )
2004

Variations for Surfactant Metabolism Dysfunction, Pulmonary, 3

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

76
# 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 30)
# 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 NM_001089.2(ABCA3): c.4909+1G> A single nucleotide variant Pathogenic GRCh37 Chromosome 16, 2327879: 2327879
12 ABCA3 NM_001089.2(ABCA3): c.4909+1G> A single nucleotide variant Pathogenic GRCh38 Chromosome 16, 2277878: 2277878
13 ABCA3 NM_001089.2(ABCA3): c.977T> C (p.Leu326Pro) single nucleotide variant Uncertain significance rs121909185 GRCh37 Chromosome 16, 2367662: 2367662
14 ABCA3 NM_001089.2(ABCA3): c.977T> C (p.Leu326Pro) single nucleotide variant Uncertain significance rs121909185 GRCh38 Chromosome 16, 2317661: 2317661
15 ABCA3 NM_001089.3(ABCA3): c.1502C> A (p.Ala501Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs141621969 GRCh38 Chromosome 16, 2300114: 2300114
16 ABCA3 NM_001089.3(ABCA3): c.1502C> A (p.Ala501Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs141621969 GRCh37 Chromosome 16, 2350115: 2350115
17 ABCA3 NM_001089.3(ABCA3): c.875A> T (p.Glu292Val) single nucleotide variant Pathogenic/Likely pathogenic rs149989682 GRCh38 Chromosome 16, 2317763: 2317763
18 ABCA3 NM_001089.3(ABCA3): c.875A> T (p.Glu292Val) single nucleotide variant Pathogenic/Likely pathogenic rs149989682 GRCh37 Chromosome 16, 2367764: 2367764
19 ABCA3 NM_001089.3(ABCA3): c.2341G> A (p.Val781Met) single nucleotide variant Uncertain significance rs771821923 GRCh38 Chromosome 16, 2295663: 2295663
20 ABCA3 NM_001089.3(ABCA3): c.2341G> A (p.Val781Met) single nucleotide variant Uncertain significance rs771821923 GRCh37 Chromosome 16, 2345664: 2345664
21 ABCA3 NM_001089.2(ABCA3): c.2815C> A (p.Leu939Met) single nucleotide variant Uncertain significance rs1555487703 GRCh37 Chromosome 16, 2338216: 2338216
22 ABCA3 NM_001089.2(ABCA3): c.2815C> A (p.Leu939Met) single nucleotide variant Uncertain significance rs1555487703 GRCh38 Chromosome 16, 2288215: 2288215
23 ABCA3 NM_001089.2(ABCA3): c.3311T> G (p.Leu1104Arg) single nucleotide variant Uncertain significance rs1555487524 GRCh37 Chromosome 16, 2335615: 2335615
24 ABCA3 NM_001089.2(ABCA3): c.3311T> G (p.Leu1104Arg) single nucleotide variant Uncertain significance rs1555487524 GRCh38 Chromosome 16, 2285614: 2285614
25 ABCA3 NM_001089.2(ABCA3): c.1891G> A (p.Ala631Thr) single nucleotide variant Likely pathogenic rs139738862 GRCh38 Chromosome 16, 2298391: 2298391
26 ABCA3 NM_001089.2(ABCA3): c.1891G> A (p.Ala631Thr) single nucleotide variant Likely pathogenic rs139738862 GRCh37 Chromosome 16, 2348392: 2348392
27 ABCA3 NM_001089.3(ABCA3): c.2340C> T (p.His780=) single nucleotide variant Uncertain significance rs45620539 GRCh37 Chromosome 16, 2345665: 2345665
28 ABCA3 NM_001089.3(ABCA3): c.2340C> T (p.His780=) single nucleotide variant Uncertain significance rs45620539 GRCh38 Chromosome 16, 2295664: 2295664
29 ABCA3 NM_001089.3: c.817_821delTACAC deletion Pathogenic rs775903641 GRCh38 Chromosome 16, 2319634: 2319638
30 ABCA3 NM_001089.3: c.817_821delTACAC deletion Pathogenic rs775903641 GRCh37 Chromosome 16, 2369634: 2369638

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

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