PALM
MCID: PLM017
MIFTS: 51

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 57 12 53 25 59 75 37 29 13 6 44 15 40 73
Palm 75
Pam 25

Characteristics:

Orphanet epidemiological data:

59
pulmonary alveolar microlithiasis
Inheritance: Autosomal recessive,Not applicable; Age of onset: All ages;

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
pulmonary alveolar microlithiasis:
Onset and clinical course slow progression onset diffuse
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 59  
Rare respiratory diseases


External Ids:

OMIM 57 265100
Disease Ontology 12 DOID:12117
ICD10 33 J84.02
ICD9CM 35 516.2
MeSH 44 C562405
SNOMED-CT 68 87153008
Orphanet 59 ORPHA60025
ICD10 via Orphanet 34 J84.0
UMLS via Orphanet 74 C0155912
MedGen 42 C0155912
KEGG 37 H01298
SNOMED-CT via HPO 69 258211005 19648000
UMLS 73 C0155912

Summaries for Pulmonary Alveolar Microlithiasis

NIH Rare Diseases : 53 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 nephrolithiasis and hairy palms and soles. 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, brain and testes, and related phenotypes are restrictive deficit on pulmonary function testing and progressive pulmonary function impairment

Genetics Home Reference : 25 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 : 57 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 : 75 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 : 76 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 382)
# Related Disease Score Top Affiliating Genes
1 nephrolithiasis 29.5 FGF23 PTH SLC34A1 SLC34A3
2 hairy palms and soles 12.4
3 pfeiffer-palm-teller syndrome 12.3
4 pustulosis of palm and sole 12.1
5 palmoplantar keratoderma, epidermolytic 11.9
6 cole disease 11.7
7 epidermolysis bullosa simplex, localized 11.7
8 aquagenic syringeal acrokeratoderm 11.6
9 pustulosis palmaris et plantaris 11.6
10 microcephalic primordial dwarfism, montreal type 11.5
11 palmoplantar keratoderma, nonepidermolytic, focal 1 11.5
12 autosomal dominant palmoplantar keratoderma and congenital alopecia 11.5
13 porokeratotic eccrine ostial and dermal duct nevus 11.5
14 erythema palmare hereditarium 11.3
15 palmoplantar keratosis 11.3
16 carpal tunnel syndrome 11.2
17 acral lentiginous melanoma 11.2
18 psoriasis 11.2
19 dyschromatosis universalis hereditaria 3 11.2
20 autosomal recessive congenital ichthyosis 11.2
21 vesicoureteral reflux 1 11.2
22 acanthosis nigricans 11.2
23 adermatoglyphia 11.1
24 tinea nigra 11.1
25 kawasaki disease 11.1
26 epidermolytic hyperkeratosis 11.1
27 nevus comedonicus 11.1
28 syphilis 11.1
29 folliculitis 11.1
30 pompholyx 11.1
31 papillon-lefevre syndrome 11.1
32 ichthyosis, x-linked 11.1
33 focal acral hyperkeratosis 11.1
34 palmoplantar keratoderma i, striate, focal, or diffuse 11.1
35 darier-white disease 11.0
36 dupuytren contracture 11.0
37 basan syndrome 11.0
38 epidermolysis bullosa simplex, dowling-meara type 11.0
39 palmoplantar keratoderma, punctate type ia 11.0
40 palmoplantar keratoderma, nagashima type 11.0
41 unna-thost palmoplantar keratoderma 11.0
42 psoriasis 14, pustular 11.0
43 cantu sanchez-corona hernandez syndrome 11.0
44 palmoplantar keratoderma-sclerodactyly syndrome 11.0
45 brachydactyly, combined b and e types 10.9
46 brachydactyly, type a1 10.9
47 brachydactyly, type a2 10.9
48 brachydactyly, type a3 10.9
49 brachydactyly, type a4 10.9
50 osebold-remondini syndrome 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

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Pulmonary Alveolar Microlithiasis:

32
# Description HPO Frequency HPO Source Accession
1 restrictive deficit on pulmonary function testing 32 HP:0002111
2 progressive pulmonary function impairment 32 HP:0006520
3 intraalveolar nodular calcifications 32 HP:0006514

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

26
# 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:

46
# 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 9.5 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 Recruiting 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 29 SLC34A2

Anatomical Context for Pulmonary Alveolar Microlithiasis

MalaCards organs/tissues related to Pulmonary Alveolar Microlithiasis:

41
Lung, Brain, Testes, Skin, Kidney, Prostate, Bone

Publications for Pulmonary Alveolar Microlithiasis

Articles related to Pulmonary Alveolar Microlithiasis:

(show top 50) (show all 1240)
# Title Authors Year
1
Bioethanol production from palm wood using Trichoderma reesei and Kluveromyces marxianus. ( 30293029 )
2019
2
Peels of tucumã (Astrocaryum vulgare) and peach palm (Bactris gasipaes) are by-products classified as very high carotenoid sources. ( 30309535 )
2019
3
Pyrolysis of palm kernel shell with internal recycling of heavy oil. ( 30316194 )
2019
4
Potential use of interesterified palm kernel oil to replace animal fat in frankfurters. ( 30316553 )
2019
5
Regression modelling of the impact of confectioner's sugar and temperature on palm oil crystallization and rheology. ( 30372926 )
2019
6
Degradation behavior of palm oil mill effluent in Fenton oxidation. ( 30447563 )
2019
7
Ordered micro-mesoporous carbon from palm oil cooking waste via nanocasting in HZSM-5/SBA-15 composite: Preparation and adsorption studies. ( 30236942 )
2019
8
Pulmonary alveolar microlithiasis: A case report and review of the literature. ( 29434686 )
2018
9
Pneumothorax secondary to pulmonary alveolar microlithiasis. ( 29636959 )
2018
10
Ultrasonography and computed tomography findings in pulmonary alveolar microlithiasis. ( 29874702 )
2018
11
Camphor Burns on the Palm: An Unusual New Presentation. ( 29643733 )
2018
12
Nodular fasciitis involving the palm. ( 29658336 )
2018
13
White Powder Over Palm: An Unusual Presentation of Hyperuricemia in Polyarticular Gout. ( 30347956 )
2018
14
Effect of Pollen, Pit Powder, and Gemmule Extract of Date Palm on Male Infertility: A Systematic Review. ( 29087245 )
2018
15
Sample-to-answer palm-sized nucleic acid testing device towards low-cost malaria mass screening. ( 29803865 )
2018
16
Reading the palm with MUNIX: A 'reversed split hand' in spinal muscular atrophy. ( 30553648 )
2018
17
Progressive Sandstorm Lung in Pulmonary Alveolar Microlithiasis. ( 30086281 )
2018
18
Pulmonary Alveolar Microlithiasis: A commonly misdiagnosed rare entity. ( 30210859 )
2018
19
Saving the hand: Role of multimodality therapy for Ewing's sarcoma family tumor of the palm. ( 29904746 )
2018
20
The dark side of adherence-a commentary on Palm et al. (2018) factors influencing adherence to continuous positive airway pressure treatment in obstructive sleep apnea and mortality associated with treatment failure - A national registry-based cohort study. Sleep Med. 2018 Jul 17; 51: 85-91. ( 30551925 )
2018
21
Squamous cell carcinoma of the palm after chronic organophosphate exposure. ( 30188210 )
2018
22
Pyrolysis of blend (oil palm biomass and sawdust) biomass using TG-MS. ( 30553084 )
2018
23
Net energy of oat bran, wheat bran, and palm kernel expellers fed to growing pigs using indirect calorimetry. ( 30444062 )
2018
24
Vascular Protective Effects of Morinda citrifolia Leaf Extract on Postmenopausal Rats Fed with Thermoxidized Palm Oil Diet: Evidence at Microscopic Level. ( 30254765 )
2018
25
Metagenomics analysis reveals significant modulation of cecal microbiota of broilers fed palm kernel expeller diets. ( 30137571 )
2018
26
Drosophila larvae fed palm fruit juice (PFJ) delay pupation via expression regulation of hormetic stress response genes linked to ageing and longevity. ( 29550564 )
2018
27
Altered Potassium Ion Channel Function as a Possible Mechanism of Increased Blood Pressure in Rats Fed Thermally Oxidized Palm Oil Diets. ( 29281328 )
2018
28
Pazopanib with low fat meal (PALM) in advanced renal cell carcinoma. ( 30393825 )
2018
29
TOP-DOWN LIGNOMIC MALDI-TOF-TANDEM MASS SPECTROMETRY ANALYSIS OF LIGNIN OLIGOMERS EXTRACTED FROM DATE PALM WOOD. ( 30506948 )
2018
30
Efficacy and Cost of Trap-Bait Combinations for Capturing Rhynchophorus palmarum L. (Coleoptera: Curculionidae) in Ornamental Palm Polycultures. ( 28755087 )
2018
31
Tocotrienol-Rich Vitamin E from Palm Oil (Tocovid) and Its Effects in Diabetes and Diabetic Nephropathy: A Pilot Phase II Clinical Trial. ( 30227659 )
2018
32
The Effect of Phytosterol-Rich Fraction from Palm Fatty Acid Distillate on Blood Serum Lipid Profile of Dyslipidemia Rats. ( 29336623 )
2018
33
Optimization of the extraction of natural antioxidants from Coffea robusta leaves and evaluation of their ability to preserve palm olein from oxidation during accelerated storage. ( 30258620 )
2018
34
An investigation on the physicochemical characterization of interesterified blends of fully hydrogenated palm olein and soybean oil. ( 30263757 )
2018
35
SNMMI Leadership Update: SNMMI Mid-Winter Meeting in Palm Springs: Focus on Cardiovascular Imaging. ( 30275290 )
2018
36
Influences of Light Intensity and β-Carotene on Polycyclic Aromatic Hydrocarbons and Aldehydes in Vegetable Oil: A Case Study Using Palm Oil. ( 30280896 )
2018
37
moxMaple3: a Photoswitchable Fluorescent Protein for PALM and Protein Highlighting in Oxidizing Cellular Environments. ( 30283009 )
2018
38
Food Consumption, Developmental Time, and Protein Profile of the Digestive System of the Red Palm Weevil, Rhynchophorus ferrugineus (Coleptera: Dryophthoridae) Larvae Reared on Three Different Diets. ( 30285257 )
2018
39
Development and characterization of sugar palm nanocrystalline cellulose reinforced sugar palm starch bionanocomposites. ( 30286991 )
2018
40
Identification and full-genome characterization of novel circoviruses in masked palm civets (Paguma larvata). ( 30296458 )
2018
41
Date palm ash-MgAl-layered double hydroxide composite: sustainable adsorbent for effective removal of methyl orange and eriochrome black-T from aqueous phase. ( 30298353 )
2018
42
Hyperpigmented Macule on the Palm and Diminished Sensation. ( 30304352 )
2018
43
Discovery of a new genus and species of dogielinotid amphipod (Crustacea: Amphipoda: Dogielinotidae) from the Nipa palm in Thailand, with an updated key to the genera. ( 30321188 )
2018
44
Acclimation responses of macaw palm seedlings to contrasting light environments. ( 30333511 )
2018
45
Chronic leaf harvesting reduces reproductive success of a tropical dry forest palm in northern Mexico. ( 30335793 )
2018
46
Genomic Insights into Date Palm Origins. ( 30336633 )
2018
47
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 )
2018
48
Estimating seed and pollen dispersal kernels from genetic data demonstrates a high pollen dispersal capacity for an endangered palm species. ( 30347429 )
2018
49
Correction to: Analysis of the complete genomic sequence of a novel virus, areca palm necrotic spindle-spot virus, reveals the existence of a new genus in the family Potyviridae. ( 30357476 )
2018
50
Sustainable palm oil may not be so sustainable. ( 30359800 )
2018

Variations for Pulmonary Alveolar Microlithiasis

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

75
# 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_224delACCTACCCACTCT (p.Asn71Ilefs) deletion Pathogenic rs796065044 GRCh37 Chromosome 4, 25664426: 25664438
8 SLC34A2 NM_006424.2(SLC34A2): c.212_224delACCTACCCACTCT (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 sodium ion transport GO:0006814 9.63 SLC34A1 SLC34A2 SLC34A3
2 cellular protein metabolic process GO:0044267 9.62 FGF23 SFTPD SLC34A1 SLC34A2
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 9.43 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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
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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