SMDP1
MCID: SRF004
MIFTS: 43

Surfactant Metabolism Dysfunction, Pulmonary, 1 (SMDP1)

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

Aliases & Classifications for Surfactant Metabolism Dysfunction, Pulmonary, 1

MalaCards integrated aliases for Surfactant Metabolism Dysfunction, Pulmonary, 1:

Name: Surfactant Metabolism Dysfunction, Pulmonary, 1 57 29 13 6 70
Interstitial Lung Disease Due to Surfactant Protein B Deficiency 57 72
Smdp1 57 72
Interstitial Lung Disease, Nonspecific, Due to Surfactant Protein B Deficiency 57
Interstitial Lung Disease Non-Specific Due to Surfactant Protein B Deficiency 72
Neonatal Acute Respiratory Distress Due to Surfactant Protein B Deficiency 58
Neonatal Acute Respiratory Distress Due to Sp-B Deficiency 58
Surfactant Metabolism Dysfunction, Pulmonary, Type 1 39
Pulmonary Alveolar Proteinosis, Congenital, 1 57
Pulmonary Surfactant Metabolism Dysfunction 1 72
Congenital Pulmonary Alveolar Proteinosis 1 72
Pap 72

Characteristics:

Orphanet epidemiological data:

58
neonatal acute respiratory distress due to sp-b deficiency
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal; Age of death: infantile;

OMIM®:

57 (Updated 05-Apr-2021)
Miscellaneous:
rapidly progressive
genetic heterogeneity
onset in infancy (first hours to weeks of life)
occurs in full-term newborns
death usually occurs in the first weeks to months of life
minimal response to surfactant treatment
incidence of 1 in 1.5 million births

Inheritance:
autosomal recessive


HPO:

31
surfactant metabolism dysfunction, pulmonary, 1:
Inheritance autosomal recessive inheritance heterogeneous
Onset and clinical course infantile onset rapidly progressive


Classifications:

Orphanet: 58  
Rare respiratory diseases


Summaries for Surfactant Metabolism Dysfunction, Pulmonary, 1

OMIM® : 57 Inborn errors of pulmonary surfactant metabolism are genetically heterogeneous disorders resulting in severe respiratory insufficiency or failure in full-term neonates or infants. These disorders are associated with various pathologic entities, including pulmonary alveolar proteinosis (PAP), desquamative interstitial pneumonitis (DIP), or cellular nonspecific interstitial pneumonitis (NSIP) (Clark and Clark, 2005). A clinically similar disorder characterized by respiratory distress (267450) can affect preterm infants, who show developmental deficiency of surfactant. Acquired PAP (610910) is an autoimmune disorder characterized by the presence of autoantobodies to CSF2 (138960). (265120) (Updated 05-Apr-2021)

MalaCards based summary : Surfactant Metabolism Dysfunction, Pulmonary, 1, also known as interstitial lung disease due to surfactant protein b deficiency, is related to pulmonary alveolar proteinosis and respiratory distress syndrome in premature infants, and has symptoms including dyspnea, apnea and cyanosis. An important gene associated with Surfactant Metabolism Dysfunction, Pulmonary, 1 is SFTPB (Surfactant Protein B), and among its related pathways/superpathways are Diseases of metabolism and Surfactant metabolism. Affiliated tissues include lung, and related phenotypes are neonatal respiratory distress and tachypnea

UniProtKB/Swiss-Prot : 72 Pulmonary surfactant metabolism dysfunction 1: 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, 1

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

(show top 50) (show all 402)
# Related Disease Score Top Affiliating Genes
1 pulmonary alveolar proteinosis 31.8 SFTPC SFTPB
2 respiratory distress syndrome in premature infants 30.6 SFTPC SFTPB ABCA3
3 interstitial pneumonitis, desquamative, familial 30.6 SFTPC SFTPB ABCA3
4 pulmonary fibrosis 29.6 SFTPC ABCA3
5 pneumonia 29.4 SFTPC SFTPB
6 respiratory failure 29.2 SFTPC SFTPB ABCA3
7 lung disease 29.0 SFTPC SFTPB ABCA3
8 pulmonary fibrosis, idiopathic 29.0 SFTPC SFTPB ABCA3
9 interstitial lung disease 28.7 SFTPC SFTPB ABCA3
10 cervical cancer 11.2
11 polydactyly, postaxial, type a1 11.2
12 congenital pulmonary alveolar proteinosis 11.2
13 pituitary adenoma 1, multiple types 11.0
14 polydactyly, postaxial, type a10 11.0
15 secondary pulmonary alveolar proteinosis 10.9
16 vaginal cancer 10.9
17 hereditary pulmonary alveolar proteinosis 10.9
18 human papillomavirus infectious disease 10.9
19 interstitial lung and liver disease 10.9
20 surfactant metabolism dysfunction, pulmonary, 4 10.9
21 pulmonary alveolar proteinosis, acquired 10.9
22 surfactant metabolism dysfunction, pulmonary, 2 10.9
23 surfactant metabolism dysfunction, pulmonary, 3 10.9
24 surfactant metabolism dysfunction, pulmonary, 5 10.9
25 cervix disease 10.9
26 chondrodysplasia with joint dislocations, gpapp type 10.9
27 mycoplasma pneumoniae pneumonia 10.9
28 cervix uteri carcinoma in situ 10.8
29 cervical intraepithelial neoplasia 10.8
30 sleep apnea 10.5
31 squamous cell papilloma 10.5
32 papilloma 10.5
33 suppressor of tumorigenicity 3 10.5
34 pancreatitis 10.5
35 adenocarcinoma in situ 10.4
36 pyelonephritis 10.4
37 chlamydia 10.4
38 in situ carcinoma 10.4
39 endometrial cancer 10.4
40 acute pancreatitis 10.3
41 bacterial vaginosis 10.3
42 adenocarcinoma 10.3
43 prostatic hypertrophy 10.3
44 endometrial adenocarcinoma 10.3
45 cervicitis 10.3
46 vaginal discharge 10.3
47 anus cancer 10.2
48 vaginitis 10.2
49 cystic fibrosis 10.2
50 endocervical adenocarcinoma 10.2

Graphical network of the top 20 diseases related to Surfactant Metabolism Dysfunction, Pulmonary, 1:



Diseases related to Surfactant Metabolism Dysfunction, Pulmonary, 1

Symptoms & Phenotypes for Surfactant Metabolism Dysfunction, Pulmonary, 1

Human phenotypes related to Surfactant Metabolism Dysfunction, Pulmonary, 1:

58 31 (show all 22)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 neonatal respiratory distress 58 31 hallmark (90%) Very frequent (99-80%) HP:0002643
2 tachypnea 58 31 hallmark (90%) Very frequent (99-80%) HP:0002789
3 intraalveolar phospholipid accumulation 31 hallmark (90%) HP:0006517
4 pulmonary arterial hypertension 58 31 frequent (33%) Frequent (79-30%) HP:0002092
5 pulmonary infiltrates 58 31 frequent (33%) Frequent (79-30%) HP:0002113
6 pulmonary opacity 58 31 frequent (33%) Frequent (79-30%) HP:0031457
7 interstitial pneumonitis 58 31 occasional (7.5%) Occasional (29-5%) HP:0006515
8 right ventricular hypertrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0001667
9 chronic lung disease 58 31 occasional (7.5%) Occasional (29-5%) HP:0006528
10 spontaneous neonatal pneumothorax 58 31 occasional (7.5%) Occasional (29-5%) HP:0004876
11 failure to thrive 31 HP:0001508
12 dyspnea 31 HP:0002094
13 apnea 31 HP:0002104
14 abnormality of metabolism/homeostasis 31 HP:0001939
15 respiratory failure 31 HP:0002878
16 respiratory distress 31 HP:0002098
17 cyanosis 31 HP:0000961
18 interstitial pulmonary abnormality 58 Very frequent (99-80%)
19 clubbing 31 HP:0001217
20 alveolar proteinosis 58 Very frequent (99-80%)
21 abnormal pulmonary interstitial morphology 31 HP:0006530
22 desquamative interstitial pneumonitis 31 HP:0005942

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Growth Other:
failure to thrive

Skin Nails Hair Skin:
cyanosis

Cardiovascular Vascular:
pulmonary hypertension

Respiratory:
dyspnea
apnea
tachypnea
respiratory distress, severe, neonatal
respiratory failure, neonatal

Respiratory Lung:
alveolar proteinosis
interstitial fibrosis
alveoli filled with granular or foamy surfactant protein exudate
alveoli contain desquamated type ii pneumocytes and macrophages
type ii pneumocyte hyperplasia
more
Skeletal Hands:
digital clubbing

Clinical features from OMIM®:

265120 (Updated 05-Apr-2021)

UMLS symptoms related to Surfactant Metabolism Dysfunction, Pulmonary, 1:


dyspnea; apnea; cyanosis

MGI Mouse Phenotypes related to Surfactant Metabolism Dysfunction, Pulmonary, 1:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 respiratory system MP:0005388 8.8 ABCA3 SFTPB SFTPC

Drugs & Therapeutics for Surfactant Metabolism Dysfunction, Pulmonary, 1

Search Clinical Trials , NIH Clinical Center for Surfactant Metabolism Dysfunction, Pulmonary, 1

Genetic Tests for Surfactant Metabolism Dysfunction, Pulmonary, 1

Genetic tests related to Surfactant Metabolism Dysfunction, Pulmonary, 1:

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

Anatomical Context for Surfactant Metabolism Dysfunction, Pulmonary, 1

MalaCards organs/tissues related to Surfactant Metabolism Dysfunction, Pulmonary, 1:

40
Lung

Publications for Surfactant Metabolism Dysfunction, Pulmonary, 1

Articles related to Surfactant Metabolism Dysfunction, Pulmonary, 1:

(show all 23)
# Title Authors PMID Year
1
The genetics of neonatal respiratory disease. 57 6
15927881 2005
2
Prolonged survival in hereditary surfactant protein B (SP-B) deficiency associated with a novel splicing mutation. 6 57
10960490 2000
3
Congenital alveolar proteinosis caused by a novel mutation of the surfactant protein B gene and misalignment of lung vessels in consanguineous kindred infants. 6 57
10378403 1999
4
Compound SFTPB 1549C-->GAA (121ins2) and 457delC heterozygosity in severe congenital lung disease and surfactant protein B (SP-B) deficiency. 6 57
10571948 1999
5
A mutation in the surfactant protein B gene responsible for fatal neonatal respiratory disease in multiple kindreds. 6 57
8163685 1994
6
Surfactant Protein B Deficiency Caused by Homozygous C248X Mutation-A Case Report and Review of the Literature. 6
26199800 2015
7
Genetic testing in children with surfactant dysfunction. 6
23625987 2013
8
Interstitial lung disease in a child heterozygous for the 1549C-->GAA (121ins2) mutation of surfactant protein B. 6
21965505 2011
9
Origin of the prevalent SFTPB indel g.1549C > GAA (121ins2) mutation causing surfactant protein B (SP-B) deficiency. 6
16333843 2006
10
Pulmonary alveolar proteinosis. 57
14695413 2003
11
Hydrophobic surfactant proteins in lung function and disease. 57
12501227 2002
12
Normal lung function in subjects heterozygous for surfactant protein-B deficiency. 57
9927351 1999
13
Prenatal diagnosis of congenital alveolar proteinosis (surfactant protein B deficiency). 57
9793979 1998
14
Lung transplantation for treatment of infants with surfactant protein B deficiency. 57
9042125 1997
15
Partial deficiency of surfactant protein B in an infant with chronic lung disease. 6
7491219 1995
16
Surfactant apoprotein B deficiency. 57
8535866 1995
17
Pathophysiology and treatment of surfactant protein-B deficiency. 57
7647155 1995
18
Adenoviral-mediated gene transfer of human surfactant protein B to respiratory epithelial cells. 57
8086169 1994
19
Molecular and phenotypic variability in the congenital alveolar proteinosis syndrome associated with inherited surfactant protein B deficiency. 57
8021783 1994
20
Brief report: deficiency of pulmonary surfactant protein B in congenital alveolar proteinosis. 57
8421459 1993
21
Congenital pulmonary alveolar proteinosis: failure of treatment with extracorporeal life support. 57
1341413 1992
22
Pulmonary alveolar proteinosis in four siblings. 57
7300857 1981
23
Identification of seven novel SMPD1 mutations causing Niemann-Pick disease types A and B. 61
23252888 2013

Variations for Surfactant Metabolism Dysfunction, Pulmonary, 1

ClinVar genetic disease variations for Surfactant Metabolism Dysfunction, Pulmonary, 1:

6 (show top 50) (show all 80)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SFTPB SFTPB, 1-BP DEL, 1553T Deletion Pathogenic 13202 GRCh37:
GRCh38:
2 SFTPB SFTPB, 1-BP DEL, 457C Deletion Pathogenic 13203 GRCh37:
GRCh38:
3 SFTPB NM_000542.5(SFTPB):c.465G>T (p.Gly155=) SNV Pathogenic 13205 rs1553380888 GRCh37: 2:85892846-85892846
GRCh38: 2:85665723-85665723
4 SFTPB NM_000542.5(SFTPB):c.1084-1G>A SNV Pathogenic 587605 rs1558572491 GRCh37: 2:85888659-85888659
GRCh38: 2:85661536-85661536
5 SFTPB NM_000542.5(SFTPB):c.706C>T (p.Arg236Cys) SNV Pathogenic 13204 rs137853202 GRCh37: 2:85890937-85890937
GRCh38: 2:85663814-85663814
6 SFTPB NM_000542.5(SFTPB):c.361_362insAA (p.Pro121fs) Insertion Pathogenic 631868 rs779795223 GRCh37: 2:85893771-85893772
GRCh38: 2:85666648-85666649
7 SFTPB NM_000542.5(SFTPB):c.361delinsGAA (p.Pro121fs) Indel Pathogenic 13201 rs35328240 GRCh37: 2:85893772-85893772
GRCh38: 2:85666649-85666649
8 SFTPB NM_000542.5(SFTPB):c.730G>A (p.Gly244Ser) SNV Likely pathogenic 978726 GRCh37: 2:85890913-85890913
GRCh38: 2:85663790-85663790
9 SFTPB NM_000542.5(SFTPB):c.548G>A (p.Gly183Glu) SNV Uncertain significance 178807 rs35524245 GRCh37: 2:85892763-85892763
GRCh38: 2:85665640-85665640
10 SFTPB NM_000542.5(SFTPB):c.928G>A (p.Gly310Arg) SNV Uncertain significance 337301 rs201986026 GRCh37: 2:85890543-85890543
GRCh38: 2:85663420-85663420
11 SFTPB NM_000542.5(SFTPB):c.650G>A (p.Arg217Gln) SNV Uncertain significance 337305 rs762917358 GRCh37: 2:85892434-85892434
GRCh38: 2:85665311-85665311
12 SFTPB NM_000542.5(SFTPB):c.1138G>A (p.Asp380Asn) SNV Uncertain significance 337299 rs370785493 GRCh37: 2:85888604-85888604
GRCh38: 2:85661481-85661481
13 SFTPB NM_000542.5(SFTPB):c.41T>C (p.Leu14Pro) SNV Uncertain significance 337312 rs886056384 GRCh37: 2:85895266-85895266
GRCh38: 2:85668143-85668143
14 SFTPB NM_198843.3(SFTPB):c.-59G>A SNV Uncertain significance 337315 rs762253717 GRCh37: 2:85895365-85895365
GRCh38: 2:85668242-85668242
15 SFTPB NM_000542.5(SFTPB):c.*2366A>C SNV Uncertain significance 337286 rs868422895 GRCh37: 2:85884459-85884459
GRCh38: 2:85657336-85657336
16 SFTPB NM_000542.5(SFTPB):c.780G>A (p.Thr260=) SNV Uncertain significance 337304 rs528288865 GRCh37: 2:85890863-85890863
GRCh38: 2:85663740-85663740
17 SFTPB NM_000542.5(SFTPB):c.*1756C>G SNV Uncertain significance 895186 GRCh37: 2:85885069-85885069
GRCh38: 2:85657946-85657946
18 SFTPC NM_003018.4(SFTPC):c.10G>A (p.Gly4Ser) SNV Uncertain significance 972679 GRCh37: 8:22019351-22019351
GRCh38: 8:22161838-22161838
19 SFTPB NM_000542.5(SFTPB):c.826C>T (p.Arg276Trp) SNV Uncertain significance 198927 rs542291993 GRCh37: 2:85890817-85890817
GRCh38: 2:85663694-85663694
20 SFTPB NM_000542.5(SFTPB):c.560C>T (p.Ala187Val) SNV Uncertain significance 337309 rs756571077 GRCh37: 2:85892751-85892751
GRCh38: 2:85665628-85665628
21 SFTPB NM_000542.5(SFTPB):c.136G>T (p.Ala46Ser) SNV Uncertain significance 337311 rs774179232 GRCh37: 2:85894861-85894861
GRCh38: 2:85667738-85667738
22 SFTPB NM_000542.5(SFTPB):c.32T>C (p.Leu11Pro) SNV Uncertain significance 337313 rs886056385 GRCh37: 2:85895275-85895275
GRCh38: 2:85668152-85668152
23 SFTPB NM_000542.5(SFTPB):c.1090G>A (p.Gly364Arg) SNV Uncertain significance 337300 rs750958534 GRCh37: 2:85888652-85888652
GRCh38: 2:85661529-85661529
24 SFTPB NM_000542.5(SFTPB):c.403G>A (p.Gly135Ser) SNV Uncertain significance 593184 rs35373464 GRCh37: 2:85892908-85892908
GRCh38: 2:85665785-85665785
25 SFTPB NM_000542.5(SFTPB):c.352G>A (p.Asp118Asn) SNV Uncertain significance 619287 rs45557339 GRCh37: 2:85893781-85893781
GRCh38: 2:85666658-85666658
26 SFTPB NM_000542.5(SFTPB):c.673-8C>T SNV Uncertain significance 977497 GRCh37: 2:85890978-85890978
GRCh38: 2:85663855-85663855
27 SFTPB NM_000542.5(SFTPB):c.583-15T>C SNV Uncertain significance 337307 rs202098250 GRCh37: 2:85892516-85892516
GRCh38: 2:85665393-85665393
28 ABCA3 NM_001089.3(ABCA3):c.1225C>G (p.Leu409Val) SNV Uncertain significance 587503 rs1567347771 GRCh37: 16:2358511-2358511
GRCh38: 16:2308510-2308510
29 SFTPB NM_198843.3(SFTPB):c.-31C>T SNV Uncertain significance 337314 rs35509268 GRCh37: 2:85895337-85895337
GRCh38: 2:85668214-85668214
30 SFTPB NM_000542.5(SFTPB):c.*1607G>A SNV Uncertain significance 337295 rs886056383 GRCh37: 2:85885218-85885218
GRCh38: 2:85658095-85658095
31 SFTPB NM_000542.5(SFTPB):c.*2062C>T SNV Uncertain significance 337287 rs886056382 GRCh37: 2:85884763-85884763
GRCh38: 2:85657640-85657640
32 SFTPB NM_198843.3(SFTPB):c.-109C>G SNV Uncertain significance 337316 rs562887288 GRCh37: 2:85895837-85895837
GRCh38: 2:85668714-85668714
33 SFTPB NM_000542.5(SFTPB):c.546C>T (p.Pro182=) SNV Uncertain significance 337310 rs45505791 GRCh37: 2:85892765-85892765
GRCh38: 2:85665642-85665642
34 SFTPB NM_000542.5(SFTPB):c.570G>C (p.Gly190=) SNV Uncertain significance 337308 rs141123597 GRCh37: 2:85892741-85892741
GRCh38: 2:85665618-85665618
35 SFTPB NM_000542.5(SFTPB):c.*1805G>A SNV Uncertain significance 337293 rs558265142 GRCh37: 2:85885020-85885020
GRCh38: 2:85657897-85657897
36 SFTPB NM_000542.5(SFTPB):c.*1488A>G SNV Uncertain significance 337296 rs560513740 GRCh37: 2:85885337-85885337
GRCh38: 2:85658214-85658214
37 SFTPB NM_000542.5(SFTPB):c.413T>C (p.Met138Thr) SNV Uncertain significance 895247 GRCh37: 2:85892898-85892898
GRCh38: 2:85665775-85665775
38 SFTPB NM_000542.5(SFTPB):c.*922G>A SNV Uncertain significance 896601 GRCh37: 2:85885903-85885903
GRCh38: 2:85658780-85658780
39 SFTPB NM_000542.5(SFTPB):c.*902C>T SNV Uncertain significance 896602 GRCh37: 2:85885923-85885923
GRCh38: 2:85658800-85658800
40 SFTPB NM_000542.5(SFTPB):c.1065T>C (p.Asp355=) SNV Uncertain significance 896603 GRCh37: 2:85889170-85889170
GRCh38: 2:85662047-85662047
41 SFTPB NM_000542.5(SFTPB):c.376T>G (p.Tyr126Asp) SNV Uncertain significance 896675 GRCh37: 2:85893757-85893757
GRCh38: 2:85666634-85666634
42 SFTPB NM_000542.5(SFTPB):c.373G>A (p.Asp125Asn) SNV Uncertain significance 896676 GRCh37: 2:85893760-85893760
GRCh38: 2:85666637-85666637
43 SFTPB NM_000542.5(SFTPB):c.361C>G (p.Pro121Ala) SNV Uncertain significance 896677 GRCh37: 2:85893772-85893772
GRCh38: 2:85666649-85666649
44 SFTPB NM_000542.5(SFTPB):c.304G>C (p.Val102Leu) SNV Uncertain significance 896678 GRCh37: 2:85893829-85893829
GRCh38: 2:85666706-85666706
45 SFTPB NM_000542.5(SFTPB):c.268-14C>T SNV Uncertain significance 896679 GRCh37: 2:85893879-85893879
GRCh38: 2:85666756-85666756
46 SFTPB NM_000542.5(SFTPB):c.225C>T (p.Ile75=) SNV Uncertain significance 896680 GRCh37: 2:85894271-85894271
GRCh38: 2:85667148-85667148
47 SFTPB NM_000542.5(SFTPB):c.827G>A (p.Arg276Gln) SNV Uncertain significance 898228 GRCh37: 2:85890816-85890816
GRCh38: 2:85663693-85663693
48 SFTPB NM_000542.5(SFTPB):c.725C>T (p.Ala242Val) SNV Uncertain significance 898229 GRCh37: 2:85890918-85890918
GRCh38: 2:85663795-85663795
49 SFTPB NM_000542.5(SFTPB):c.*2173G>A SNV Uncertain significance 899275 GRCh37: 2:85884652-85884652
GRCh38: 2:85657529-85657529
50 SFTPB NM_000542.5(SFTPB):c.*2143C>A SNV Uncertain significance 899276 GRCh37: 2:85884682-85884682
GRCh38: 2:85657559-85657559

UniProtKB/Swiss-Prot genetic disease variations for Surfactant Metabolism Dysfunction, Pulmonary, 1:

72
# Symbol AA change Variation ID SNP ID
1 SFTPB p.Arg236Cys VAR_036856 rs137853202

Expression for Surfactant Metabolism Dysfunction, Pulmonary, 1

Search GEO for disease gene expression data for Surfactant Metabolism Dysfunction, Pulmonary, 1.

Pathways for Surfactant Metabolism Dysfunction, Pulmonary, 1

Pathways related to Surfactant Metabolism Dysfunction, Pulmonary, 1 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.12 SFTPC SFTPB
2
Show member pathways
10.43 SFTPC SFTPB ABCA3
3
Show member pathways
10.35 SFTPC SFTPB

GO Terms for Surfactant Metabolism Dysfunction, Pulmonary, 1

Cellular components related to Surfactant Metabolism Dysfunction, Pulmonary, 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.5 SFTPC SFTPB ABCA3
2 clathrin-coated endocytic vesicle GO:0045334 9.26 SFTPC SFTPB
3 lamellar body GO:0042599 9.16 SFTPC SFTPB
4 multivesicular body lumen GO:0097486 8.96 SFTPC SFTPB
5 alveolar lamellar body GO:0097208 8.8 SFTPC SFTPB ABCA3

Biological processes related to Surfactant Metabolism Dysfunction, Pulmonary, 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 respiratory gaseous exchange GO:0007585 8.96 SFTPC SFTPB
2 cellular protein metabolic process GO:0044267 8.8 SFTPC SFTPB ABCA3

Sources for Surfactant Metabolism Dysfunction, Pulmonary, 1

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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