PALM
MCID: PLM017
MIFTS: 52

Pulmonary Alveolar Microlithiasis (PALM)

Categories: Genetic diseases, Rare diseases, Respiratory diseases

Aliases & Classifications for Pulmonary Alveolar Microlithiasis

MalaCards integrated aliases for Pulmonary Alveolar Microlithiasis:

Name: Pulmonary Alveolar Microlithiasis 58 12 54 26 60 76 38 30 13 6 45 15 41 74
Palm 76
Pam 26

Characteristics:

Orphanet epidemiological data:

60
pulmonary alveolar microlithiasis
Inheritance: Autosomal recessive,Not applicable; Age of onset: All ages;

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
slowly progressive
variable age at onset (usually 20 to 30 years of age)


HPO:

33
pulmonary alveolar microlithiasis:
Onset and clinical course slow progression onset diffuse
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 60  
Rare respiratory diseases


External Ids:

Disease Ontology 12 DOID:12117
OMIM 58 265100
KEGG 38 H01298
ICD9CM 36 516.2
MeSH 45 C562405
SNOMED-CT 69 87153008
ICD10 34 J84.02
ICD10 via Orphanet 35 J84.0
UMLS via Orphanet 75 C0155912
Orphanet 60 ORPHA60025
MedGen 43 C0155912
SNOMED-CT via HPO 70 19648000 258211005
UMLS 74 C0155912

Summaries for Pulmonary Alveolar Microlithiasis

NIH Rare Diseases : 54 Pulmonary alveolar microlithiasis is a disorder in which tiny fragments (microliths) of calcium phosphate gradually accumulate in the small air sacs (alveoli) of the lungs. These deposits eventually cause widespread damage to the alveoli and surrounding lung tissue (interstitial lung disease). People with this disorder may also develop a persistent cough and difficulty breathing (dyspnea), especially during physical exertion. Chest pain that worsens when coughing, sneezing, or taking deep breaths is another common feature. People with pulmonary alveolar microlithiasis may also develop calcium phosphate deposits in other organs and tissue of the body. Though the  course of the disease can be variable, many cases slowly progress to lung fibrosis, respiratory failure, or cor pulmonale. The only effective therapy is lung transplantation. In some cases, pulmonary alveolar microlithiasis is caused by mutations in the SLC34A2 gene and inherited in an autosomal recessive manner.

MalaCards based summary : Pulmonary Alveolar Microlithiasis, also known as palm, is related to osteomalacia and nephrolithiasis. An important gene associated with Pulmonary Alveolar Microlithiasis is SLC34A2 (Solute Carrier Family 34 Member 2), and among its related pathways/superpathways are Parathyroid hormone synthesis, secretion and action and Surfactant metabolism. Affiliated tissues include lung, skin and testes, and related phenotypes are restrictive deficit on pulmonary function testing and progressive pulmonary function impairment

Genetics Home Reference : 26 Pulmonary alveolar microlithiasis is a disorder in which many tiny fragments (microliths) of a compound called calcium phosphate gradually accumulate in the small air sacs (alveoli) located throughout the lungs. These deposits eventually cause widespread damage to the alveoli and surrounding lung tissue (interstitial lung disease) that leads to breathing problems. People with this disorder can develop a persistent cough and difficulty breathing (dyspnea), especially during physical exertion. Affected individuals may also experience chest pain that worsens when coughing, sneezing, or taking deep breaths.

OMIM : 58 Pulmonary alveolar microlithiasis is a rare disease characterized by the deposition of calcium phosphate microliths throughout the lungs. Most patients are asymptomatic for several years or even for decades, and, generally, the diagnosis is incidental to clinical investigations unrelated to the specific disorder. Cases with early onset or rapid progression are rare. A 'sandstorm-appearing' chest roentgenogram is a typical diagnostic finding. The onset of this potentially lethal disease varies from the neonatal period to old age, and the disease follows a long-term progressive course, resulting in a slow deterioration of lung functions. About one-third of the reported cases are said to be familial (summary by Corut et al., 2006). (265100)

CDC : 3 Naegleria fowleri (commonly referred to as the “brain-eating amoeba” or “brain-eating ameba”), is a free-living microscopic ameba*, (single-celled living organism). It can cause a rare** and devastating infection of the brain called primary amebic meningoencephalitis (PAM). The ameba is commonly found in warm freshwater (e.g. lakes, rivers, and hot springs) and soil. Naegleria fowleri usually infects people when contaminated water enters the body through the nose. Once the ameba enters the nose, it travels to the brain where it causes PAM, which is usually fatal. Infection typically occurs when people go swimming or diving in warm freshwater places, like lakes and rivers. In very rare instances, Naegleria infections may also occur when contaminated water from other sources (such as inadequately chlorinated swimming pool water or heated and contaminated tap water) enters the nose 1-4. You cannot get infected from swallowing water contaminated with Naegleria.

UniProtKB/Swiss-Prot : 76 Pulmonary alveolar microlithiasis: Rare disease characterized by the deposition of calcium phosphate microliths throughout the lungs. Most patients are asymptomatic for several years or even for decades and generally, the diagnosis is incidental to clinical investigations unrelated to the disease. Cases with early-onset or rapid progression are rare. A 'sandstorm- appearing' chest roentgenogram is a typical diagnostic finding. The onset of this potentially lethal disease varies from the neonatal period to old age and the disease follows a long-term, progressive course, resulting in a slow deterioration of lung functions. Pulmonary alveolar microlithiasis is a recessive monogenic disease with full penetrance.

Wikipedia : 77 Pulmonary alveolar microlithiasis (PAM) is a rare, inherited disorder of lung phosphate balance that is... more...

Related Diseases for Pulmonary Alveolar Microlithiasis

Diseases related to Pulmonary Alveolar Microlithiasis via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 454)
# Related Disease Score Top Affiliating Genes
1 osteomalacia 29.2 FGF23 PTH
2 nephrolithiasis 29.0 FGF23 PTH SLC34A1 SLC34A3
3 hairy palms and soles 12.4
4 pfeiffer-palm-teller syndrome 12.4
5 pustulosis of palm and sole 12.2
6 palmoplantar keratoderma, epidermolytic 12.0
7 aquagenic syringeal acrokeratoderma 11.9
8 cole disease 11.7
9 epidermolysis bullosa simplex, localized 11.7
10 pustulosis palmaris et plantaris 11.6
11 microcephalic primordial dwarfism, montreal type 11.5
12 palmoplantar keratoderma, nonepidermolytic, focal 1 11.5
13 autosomal dominant palmoplantar keratoderma and congenital alopecia 11.5
14 porokeratotic eccrine ostial and dermal duct nevus 11.5
15 palmoplantar keratosis 11.4
16 erythema palmare hereditarium 11.4
17 carpal tunnel syndrome 11.3
18 psoriasis 11.3
19 acral lentiginous melanoma 11.3
20 pompholyx 11.3
21 dyschromatosis universalis hereditaria 3 11.3
22 autosomal recessive congenital ichthyosis 11.3
23 vesicoureteral reflux 1 11.2
24 acanthosis nigricans 11.2
25 adermatoglyphia 11.2
26 granuloma annulare 11.2
27 tinea nigra 11.1
28 kawasaki disease 11.1
29 epidermolytic hyperkeratosis 11.1
30 nevus comedonicus 11.1
31 syphilis 11.1
32 folliculitis 11.1
33 papillon-lefevre syndrome 11.1
34 ichthyosis, x-linked 11.1
35 palmoplantar keratoderma i, striate, focal, or diffuse 11.1
36 darier-white disease 11.0
37 dupuytren contracture 11.0
38 basan syndrome 11.0
39 epidermolysis bullosa simplex, dowling-meara type 11.0
40 palmoplantar keratoderma, punctate type ia 11.0
41 palmoplantar keratoderma, nagashima type 11.0
42 unna-thost palmoplantar keratoderma 11.0
43 psoriasis 14, pustular 11.0
44 cantu sanchez-corona hernandez syndrome 11.0
45 palmoplantar keratoderma-sclerodactyly syndrome 11.0
46 palmoplantar keratoderma, punctate type iii 10.9
47 brachydactyly, combined b and e types 10.9
48 brachydactyly, type a1 10.9
49 brachydactyly, type a2 10.9
50 brachydactyly, type a3 10.9

Graphical network of the top 20 diseases related to Pulmonary Alveolar Microlithiasis:



Diseases related to Pulmonary Alveolar Microlithiasis

Symptoms & Phenotypes for Pulmonary Alveolar Microlithiasis

Human phenotypes related to Pulmonary Alveolar Microlithiasis:

33
# Description HPO Frequency HPO Source Accession
1 restrictive deficit on pulmonary function testing 33 HP:0002111
2 progressive pulmonary function impairment 33 HP:0006520
3 intraalveolar nodular calcifications 33 HP:0006514

Symptoms via clinical synopsis from OMIM:

58
Respiratory Lung:
progressive pulmonary function impairment
intraalveolar nodular calcifications ('microliths')
diffuse, bilateral medial and basal lung involvement
pulmonary function tests show restrictive deficit
progressive fibrosis may occur

Clinical features from OMIM:

265100

GenomeRNAi Phenotypes related to Pulmonary Alveolar Microlithiasis according to GeneCards Suite gene sharing:

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-104 9.32 SLC34A1 SLC34A2 SLC34A3
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-112 9.32 SLC34A3
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-134 9.32 SLC34A3
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-179 9.32 SLC34A1
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-200 9.32 SLC34A2
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-213 9.32 SLC34A3
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-26 9.32 SLC34A2
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-34 9.32 SLC34A3

MGI Mouse Phenotypes related to Pulmonary Alveolar Microlithiasis:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 9.63 FGF23 PTH SFTPD SLC34A1 SLC34A2 SLC34A3
2 homeostasis/metabolism MP:0005376 9.43 FGF23 PTH SFTPD SLC34A1 SLC34A2 SLC34A3
3 renal/urinary system MP:0005367 8.92 FGF23 SLC34A1 SLC34A2 SLC34A3

Drugs & Therapeutics for Pulmonary Alveolar Microlithiasis

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Prevalence and Significance of Mutations in Genes Encoding NaPi-co-transporters in the Development of CAVD Unknown status NCT02516800

Search NIH Clinical Center for Pulmonary Alveolar Microlithiasis

Cochrane evidence based reviews: pulmonary alveolar microlithiasis

Genetic Tests for Pulmonary Alveolar Microlithiasis

Genetic tests related to Pulmonary Alveolar Microlithiasis:

# Genetic test Affiliating Genes
1 Pulmonary Alveolar Microlithiasis 30 SLC34A2

Anatomical Context for Pulmonary Alveolar Microlithiasis

MalaCards organs/tissues related to Pulmonary Alveolar Microlithiasis:

42
Lung, Skin, Testes, Prostate, Brain, Kidney, Heart

Publications for Pulmonary Alveolar Microlithiasis

Articles related to Pulmonary Alveolar Microlithiasis:

(show top 50) (show all 3250)
# Title Authors Year
1
Study of Wrist Ratio and Wrist-to-Palm Index Radio in Individuals Suffering from Carpal Tunnel Syndrome. ( 31007426 )
2019
2
A Palm-Sized Cryoprobe System with a Built-in Thermocouple and Its Application in an Animal Model of Epilepsy. ( 30802847 )
2019
3
Tripe palm: a paraneoplastic manifestation of gastric cancer. ( 30936168 )
2019
4
Malignant rhabdoid tumor of the musk gland and systemic T-cell lymphoma in a masked palm civet (Paguma larvata). ( 31092741 )
2019
5
Cross-Palm Nerve Grafts to Enhance Sensory Recovery in Severe Ulnar Neuropathy. ( 30678516 )
2019
6
Tumor-induced osteomalacia with the culprit lesion located in the palm: a case report. ( 30859855 )
2019
7
Progressive Sandstorm Lung in Pulmonary Alveolar Microlithiasis. ( 30086281 )
2019
8
Case series of Pulmonary Alveolar Microlithiasis from India. ( 30904891 )
2019
9
Pulmonary alveolar microlithiasis diagnosed with radiography, CT, and bone scintigraphy. ( 31011377 )
2019
10
Fate of antibiotics present in a primary sludge of WWTP during their co-composting with palm wastes. ( 30691885 )
2019
11
Comparative analysis of glucose metabolism responses of large yellow croaker Larimichthys crocea fed diet with fish oil and palm oil. ( 31054044 )
2019
12
Effects of corn supplementation on the antioxidant activity, selected minerals, and gene expression of selenoprotein and metallothionein in serum, liver, and kidney of sheep-fed palm kernel cake: urea-treated rice straw diets. ( 30944793 )
2019
13
Net energy of oat bran, wheat bran, and palm kernel expellers fed to growing pigs using indirect calorimetry. ( 30444062 )
2019
14
Metagenomics analysis reveals significant modulation of cecal microbiota of broilers fed palm kernel expeller diets. ( 30137571 )
2019
15
Pazopanib with low fat meal (PALM) in advanced renal cell carcinoma. ( 30393825 )
2019
16
Red palm olein supplementation on cytokines, endothelial function and lipid profile in centrally overweight individuals: a randomised controlled trial. ( 29946115 )
2019
17
Mass spectrometry in the palm of your hand: Future applications of in vivo tissue analysis. ( 29782691 )
2019
18
Date Palm (Phoenix dactylifera): Novel Findings and Future Directions for Food and Drug Discovery. ( 29557751 )
2019
19
Regression modelling of the impact of confectioner's sugar and temperature on palm oil crystallization and rheology. ( 30372926 )
2019
20
Deciphering key proteins of oil palm (Elaeis guineensis Jacq.) fruit mesocarp development by proteomics and chemometrics. ( 30370930 )
2019
21
Impact of Mg rich synthetic gypsum application on the environment and palm oil quality. ( 30368186 )
2019
22
Green Tailoring With Water of Choline Chloride Deep Eutectic Solvents for the Extraction of Polyphenols From Palm Samples. ( 30364970 )
2019
23
Sustainable palm oil may not be so sustainable. ( 30359800 )
2019
24
Effect of diets supplemented with starch and corn oil, marine algae, or hydrogenated palm oil on mammary lipogenic gene expression in cows and goats: A comparative study. ( 30343921 )
2019
25
Changes in Palm Temperature as Predictor of Long-term Cure of Sympathicotomy for Palmar hyperhidrosis? ( 30381813 )
2019
26
Soil fertility and flood regime are correlated with phylogenetic structure of Amazonian palm communities. ( 30395146 )
2019
27
Potential use of interesterified palm kernel oil to replace animal fat in frankfurters. ( 30316553 )
2019
28
Pyrolysis of palm kernel shell with internal recycling of heavy oil. ( 30316194 )
2019
29
Peels of tucumã (Astrocaryum vulgare) and peach palm (Bactris gasipaes) are by-products classified as very high carotenoid sources. ( 30309535 )
2019
30
Bioethanol production from palm wood using Trichoderma reesei and Kluveromyces marxianus. ( 30293029 )
2019
31
Ordered micro-mesoporous carbon from palm oil cooking waste via nanocasting in HZSM-5/SBA-15 composite: Preparation and adsorption studies. ( 30236942 )
2019
32
Genetic structure of the Canarian palm tree (Phoenix canariensis) at the island scale: does the 'island within islands' concept apply to species with high colonisation ability? ( 30230155 )
2019
33
Organic solvent fractionation of acetosolv palm oil lignin: The role of its structure on the antioxidant activity. ( 30219507 )
2019
34
Genetic control of fatty acid composition in coconut (Cocos nucifera), African oil palm (Elaeis guineensis), and date palm (Phoenix dactylifera). ( 30194535 )
2019
35
Stress and cell cycle regulation during somatic embryogenesis plays a key role in oil palm callus development. ( 30194057 )
2019
36
A comparative study of the effects of palm olein, cocoa butter and extra virgin olive oil on lipid profile, including low-density lipoprotein subfractions in young healthy Chinese people. ( 30160543 )
2019
37
The Inhibiting Behavior of Glycerol on the Kinetics of Transesterification of Palm Oil. ( 30159711 )
2019
38
Genome-wide association analysis of the lipid and fatty acid metabolism regulatory network in the mesocarp of oil palm (Elaeis guineensis Jacq.) based on small noncoding RNA sequencing. ( 30137626 )
2019
39
Areca Palm Necrotic Ringspot Virus, Classified Within a Recently Proposed Genus Arepavirus of the Family Potyviridae, Is Associated With Necrotic Ringspot Disease in Areca Palm. ( 30133353 )
2019
40
An evaluation of crude palm oil (CPO) and tocotrienol rich fraction (TRF) of palm oil as percutaneous permeation enhancers using full-thickness human skin. ( 30084268 )
2019
41
Evaluation of Nutritional Supplementation with Palm Oil in High-Gravity Beer Production. ( 30039768 )
2019
42
Date Palm (Phoenix dactylifera L.) Fruit as Potential Antioxidant and Antimicrobial Agents. ( 30906133 )
2019
43
Synthesis of cocoa butter substitutes from Cinnamomum camphora seed oil and fully hydrogenated palm oil by enzymatic interesterification. ( 30906041 )
2019
44
Sugar profile, volatile compounds, composition and antioxidant activity of Sukkari date palm fruit. ( 30906033 )
2019
45
Development of dehydrated products from peach palm-tucupi blends with edible film characteristics using refractive window. ( 30906013 )
2019
46
Dynamics of Microbial Populations Responsible for Biodegradation during the Full-Scale Treatment of Palm Oil Mill Effluent. ( 30905894 )
2019
47
Raffia palm (Raphia hookeri G. Mann & H. Wendl) wine modulates glucose homeostasis by enhancing insulin secretion and inhibiting redox imbalance in a rat model of diabetes induced by high fructose diet and streptozotocin. ( 30902747 )
2019
48
Phenolic profiles, antioxidant activities and cytoprotective effects of different phenolic fractions from oil palm (Elaeis guineensis Jacq.) fruits treated by ultra-high pressure. ( 30902316 )
2019
49
Identification and sequencing of Date-SRY Gene: A novel tool for sex determination of date palm (Phoenix dactylifera L.). ( 30899166 )
2019
50
Comparison of deep eutectic solvents (DES) on pretreatment of oil palm empty fruit bunch (OPEFB): Cellulose digestibility, structural and morphology changes. ( 30898410 )
2019

Variations for Pulmonary Alveolar Microlithiasis

UniProtKB/Swiss-Prot genetic disease variations for Pulmonary Alveolar Microlithiasis:

76
# Symbol AA change Variation ID SNP ID
1 SLC34A2 p.Gly106Arg VAR_030677 rs137853142

ClinVar genetic disease variations for Pulmonary Alveolar Microlithiasis:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 SLC34A2 SLC34A2, 186-BP DEL deletion Pathogenic
2 SLC34A2 SLC34A2, 1-BP DEL, 114A deletion Pathogenic
3 SLC34A2 NM_006424.2(SLC34A2): c.226C> T (p.Gln76Ter) single nucleotide variant Pathogenic rs137853141 GRCh37 Chromosome 4, 25664440: 25664440
4 SLC34A2 NM_006424.2(SLC34A2): c.226C> T (p.Gln76Ter) single nucleotide variant Pathogenic rs137853141 GRCh38 Chromosome 4, 25662818: 25662818
5 SLC34A2 NM_006424.2(SLC34A2): c.316G> C (p.Gly106Arg) single nucleotide variant Pathogenic rs137853142 GRCh37 Chromosome 4, 25665889: 25665889
6 SLC34A2 NM_006424.2(SLC34A2): c.316G> C (p.Gly106Arg) single nucleotide variant Pathogenic rs137853142 GRCh38 Chromosome 4, 25664267: 25664267
7 SLC34A2 NM_006424.2(SLC34A2): c.212_224del (p.Asn71Ilefs) deletion Pathogenic rs796065044 GRCh37 Chromosome 4, 25664426: 25664438
8 SLC34A2 NM_006424.2(SLC34A2): c.212_224del (p.Asn71Ilefs) deletion Pathogenic rs796065044 GRCh38 Chromosome 4, 25662804: 25662816

Expression for Pulmonary Alveolar Microlithiasis

Search GEO for disease gene expression data for Pulmonary Alveolar Microlithiasis.

Pathways for Pulmonary Alveolar Microlithiasis

GO Terms for Pulmonary Alveolar Microlithiasis

Cellular components related to Pulmonary Alveolar Microlithiasis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 apical plasma membrane GO:0016324 9.43 SLC34A1 SLC34A2 SLC34A3
2 vesicle GO:0031982 9.33 SLC34A1 SLC34A2 SLC34A3
3 brush border GO:0005903 9.13 SLC34A1 SLC34A2 SLC34A3
4 brush border membrane GO:0031526 8.8 SLC34A1 SLC34A2 SLC34A3

Biological processes related to Pulmonary Alveolar Microlithiasis according to GeneCards Suite gene sharing:

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 cellular protein metabolic process GO:0044267 9.62 FGF23 SFTPD SLC34A1 SLC34A2
2 sodium ion transport GO:0006814 9.61 SLC34A1 SLC34A2 SLC34A3
3 sodium ion transmembrane transport GO:0035725 9.51 SLC34A2 SLC34A3
4 response to cadmium ion GO:0046686 9.49 PTH SLC34A1
5 response to lead ion GO:0010288 9.48 PTH SLC34A1
6 response to magnesium ion GO:0032026 9.46 FGF23 SLC34A1
7 phosphate ion transport GO:0006817 9.43 SLC34A1 SLC34A2 SLC34A3
8 cellular response to parathyroid hormone stimulus GO:0071374 9.4 FGF23 SLC34A1
9 response to parathyroid hormone GO:0071107 9.37 PTH SLC34A1
10 phosphate ion homeostasis GO:0055062 9.33 FGF23 PTH SLC34A1
11 sodium-dependent phosphate transport GO:0044341 9.13 SLC34A1 SLC34A2 SLC34A3
12 cellular phosphate ion homeostasis GO:0030643 8.92 FGF23 SLC34A1 SLC34A2 SLC34A3

Molecular functions related to Pulmonary Alveolar Microlithiasis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 symporter activity GO:0015293 9.33 SLC34A1 SLC34A2 SLC34A3
2 sodium:phosphate symporter activity GO:0005436 9.13 SLC34A1 SLC34A2 SLC34A3
3 sodium-dependent phosphate transmembrane transporter activity GO:0015321 8.8 SLC34A1 SLC34A2 SLC34A3

Sources for Pulmonary Alveolar Microlithiasis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
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31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
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45 MeSH
46 MESH via Orphanet
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50 NCI
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59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
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72 TGDB
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75 UMLS via Orphanet
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