PALM
MCID: PLM017
MIFTS: 54

Pulmonary Alveolar Microlithiasis (PALM)

Categories: Blood diseases, 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 74 37 29 13 6 44 15 40 72
Pam 25 3
Palm 74

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:
Inheritance autosomal recessive inheritance
Onset and clinical course onset slow progression diffuse


Classifications:

Orphanet: 59  
Rare respiratory diseases


External Ids:

Disease Ontology 12 DOID:12117
OMIM 57 265100
KEGG 37 H01298
ICD9CM 35 516.2
MeSH 44 C562405
SNOMED-CT 68 87153008
ICD10 33 J84.02
ICD10 via Orphanet 34 J84.0
UMLS via Orphanet 73 C0155912
Orphanet 59 ORPHA60025
MedGen 42 C0155912
UMLS 72 C0155912

Summaries for Pulmonary Alveolar Microlithiasis

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. Pulmonary alveolar microlithiasis is usually diagnosed before age 40. Often the disorder is discovered before symptoms develop, when medical imaging is done for other reasons. The condition typically worsens slowly over many years, although some affected individuals have signs and symptoms that remain stable for long periods of time. People with pulmonary alveolar microlithiasis can also develop calcium phosphate deposits in other organs and tissues of the body, including the kidneys, gallbladder, testes, and the valve that connects a large blood vessel called the aorta with the heart (the aortic valve). In rare cases, affected individuals have complications related to accumulation of these deposits, such as a narrowing (stenosis) of the aortic valve that can impede normal blood flow.

MalaCards based summary : Pulmonary Alveolar Microlithiasis, also known as pam, is related to nephrocalcinosis and osteomalacia. 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 Regulation of retinoblastoma protein. Affiliated tissues include skin, lung and testes, and related phenotypes are restrictive deficit on pulmonary function testing and progressive pulmonary function impairment

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.

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.

KEGG : 37
Pulmonary alveolar microlithiasis (PALM) is a rare disease characterized by the deposition of calcium phosphate microliths throughout the lungs. Most patients are asymptomatic for several years, and cases with early onset or rapid progression are rare. One-third of the reported cases are familial. It has been suggested that mutations in SLC34A2 cause this disease.

UniProtKB/Swiss-Prot : 74 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 : 75 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 744)
# Related Disease Score Top Affiliating Genes
1 nephrocalcinosis 29.2 SLC34A3 SLC34A1 PTH
2 osteomalacia 29.2 PTH FGF23
3 oncogenic osteomalacia 29.0 PTH FGF23
4 osteoporosis 28.4 SLC34A1 PTH FGF23
5 rickets 28.1 SLC34A3 SLC34A1 PTH FGF23
6 hypophosphatemia 27.8 SLC34A3 SLC34A1 PTH FGF23
7 hairy palms and soles 12.6
8 pustulosis of palm and sole 12.4
9 pfeiffer-palm-teller syndrome 12.3
10 palmoplantar keratoderma, epidermolytic 12.0
11 aquagenic syringeal acrokeratoderma 12.0
12 pustulosis palmaris et plantaris 11.9
13 cole disease 11.8
14 porokeratotic eccrine ostial and dermal duct nevus 11.8
15 epidermolysis bullosa simplex, localized 11.8
16 palmoplantar keratoderma and congenital alopecia 1 11.7
17 palmoplantar keratoderma, nonepidermolytic, focal 1 11.7
18 microcephalic primordial dwarfism, montreal type 11.6
19 dupuytren contracture 11.6
20 palmoplantar keratosis 11.5
21 carpal tunnel syndrome 11.5
22 erythema palmare hereditarium 11.5
23 epidermolytic hyperkeratosis 11.4
24 epidermolysis bullosa simplex 11.4
25 psoriasis 11.4
26 acral lentiginous melanoma 11.4
27 pompholyx 11.4
28 vesicoureteral reflux 1 11.4
29 autosomal recessive congenital ichthyosis 11.4
30 acanthosis nigricans 11.3
31 adermatoglyphia 11.3
32 kawasaki disease 11.3
33 granuloma annulare 11.3
34 syphilis 11.3
35 tinea nigra 11.2
36 basal cell nevus syndrome 11.2
37 nevus comedonicus 11.2
38 folliculitis 11.2
39 palmomental reflex 11.2
40 down syndrome 11.2
41 papillon-lefevre syndrome 11.2
42 ichthyosis, x-linked 11.2
43 achenbach syndrome 11.2
44 molluscum contagiosum 11.2
45 focal acral hyperkeratosis 11.2
46 palmoplantar keratoderma i, striate, focal, or diffuse 11.2
47 palmoplantar keratoderma, nagashima type 11.2
48 psoriasis 14, pustular 11.1
49 cantu sanchez-corona hernandez syndrome 11.1
50 palmoplantar keratoderma-sclerodactyly syndrome 11.1

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:

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

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

MGI Mouse Phenotypes related to Pulmonary Alveolar Microlithiasis:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 9.7 FGF23 MAPK14 PTH SFTPD SLC34A1 SLC34A2
2 homeostasis/metabolism MP:0005376 9.5 FGF23 MAPK14 PTH SFTPD SLC34A1 SLC34A2
3 skeleton MP:0005390 9.02 FGF23 MAPK14 PTH SLC34A1 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 29 SLC34A2

Anatomical Context for Pulmonary Alveolar Microlithiasis

MalaCards organs/tissues related to Pulmonary Alveolar Microlithiasis:

41
Skin, Lung, Testes, Brain, Liver, Heart, Bone

Publications for Pulmonary Alveolar Microlithiasis

Articles related to Pulmonary Alveolar Microlithiasis:

(show top 50) (show all 12756)
# Title Authors PMID Year
1
Mutations in SLC34A2 cause pulmonary alveolar microlithiasis and are possibly associated with testicular microlithiasis. 38 8 71
16960801 2006
2
Pulmonary alveolar microlithiasis: a rare familial inheritance with report of six cases in a family. Contribution of six new cases to the number of case reports in Turkey. 38 8 71
11287838 2001
3
Images in clinical medicine. Pulmonary alveolar microlithiasis. 38 8
12700375 2003
4
Pulmonary alveolar microlithiasis: clinical features, evolution of the phenotype, and review of the literature. 38 8
12210357 2002
5
Pulmonary alveolar microlithiasis: review of Turkish reports. 38 8
8493634 1993
6
An unusual presentation of pulmonary alveolar microlithiasis and diaphyseal aclasia. 38 8
1540813 1992
7
Pulmonary alveolar microlithiasis. A review including ultrastructural and pulmonary function studies. 38 8
6341721 1983
8
Transbronchial biopsy of pulmonary alveolar microlithiasis. 38 8
6824405 1983
9
Pulmonary alveolar microlithiasis. Report of five cases with special reference to roentgen manifestations. 38 8
5659961 1968
10
Pulmonary alveolar microlithiasis--a family study. 38 8
6050821 1967
11
[The heredity of pulmonary alveolar microlithiasis. Apropos of a new familial observation]. 38 8
5298976 1967
12
[Infantile familial pulmonary alveolar microlithiasis. Description of 5 cases in 2 families]. 38 8
5847607 1965
13
PULMONARY ALVEOLAR MICROLITHIASIS; A REPORT OF TWO YOUNGEST CASES IN A FAMILY. 38 8
14051603 1963
14
Pulmonary alveolar microlithiasis. 38 8
13926265 1962
15
Familial pulmonary alveolar microlithiasis: four cases from Colombia, S. A.; is microlithiasis also environmental disease. 38 8
13645985 1959
16
The familial occurrence of pulmonary alveolar microlithiasis. 38 8
13424823 1957
17
PULMONARY ALVEOLAR MICROLITBIASIS OCCURRING IN PREMATURE TWINS. 8
14271368 1965
18
[Microlithiasis of the pulmonary alveoli]. 8
13887878 1962
19
Thermodynamic pathway of lignocellulosic acetylation process. 38
31384826 2019
20
Probing the 3D architecture of the plant nucleus with microscopy approaches: challenges and solutions. 38
31362571 2019
21
The partial coalescence behavior of oil-in-water emulsions: Comparison between refrigerated and room temperature storage. 38
31351259 2019
22
Synthesis of lignin based composites of TiO2 for potential application as radical scavengers in sunscreen formulation. 38
31384766 2019
23
Isolation and characterization of a novel thermophile; Bacillus haynesii, applied for the green synthesis of ZnO nanoparticles. 38
31126203 2019
24
Secondary metabolites from the Aspergillus sp. in the rhizosphere soil of Phoenix dactylifera (Palm tree). 38
31410414 2019
25
Novel phase change materials for thermal energy storage: Evaluation of tropical tree fruit oils. 38
31360643 2019
26
Thermotolerant cellulolytic Clostridiaceae and Lachnospiraceae rich consortium enhanced biogas production from oil palm empty fruit bunches by solid-state anaerobic digestion. 38
31374416 2019
27
Orange Fragrance with Sustained-Release Properties Prepared by Nanoethosomal Encapsulation of Natural Orange Essential Oil. 38
31039914 2019
28
Functional conservation and division of two single-carbohydrate-recognition domain C-type lectins from the nipa palm hispid beetle Octodonta nipae (Maulik). 38
31255631 2019
29
Effect of operative variables and kinetic study of butyl butyrate synthesis by Candida rugosa lipase activated by chitosan-reinforced nanocellulose derived from raw oil palm leaves. 38
31421729 2019
30
Identifying a quick and efficient method of removing organic matter without damaging microplastic samples. 38
31176812 2019
31
Recovery of cellulose fibers from oil palm empty fruit bunch for pulp and paper using green delignification approach. 38
31327691 2019
32
Extraction and characterization of vascular bundle and fiber strand from date palm rachis as potential bio-reinforcement in composite. 38
31320092 2019
33
Effect of oxide catalysts on the properties of bio-oil from in-situ catalytic pyrolysis of palm empty fruit bunch fiber. 38
31229784 2019
34
Emerging and legacy PAHs in urban soils of four small cities: Concentrations, distribution, and sources. 38
31176231 2019
35
Greenhouse gas footprints of palm oil production in Indonesia over space and time. 38
31255821 2019
36
Chemometric studies of the effects of milk fat replacement with different proportions of vegetable oils in the formulation of fat-filled milk powders: Implications for quality assurance. 38
31174750 2019
37
Reverse first dorsal metacarpal artery flap repair of a right thumb epidermis granuloma: A case study. 38
31402941 2019
38
Loss of haptic feedback impairs control of hand posture: a study in chronically deafferented individuals when grasping and lifting objects. 38
31209510 2019
39
Açai Berry (Euterpe oleracea) Dietary Supplements: Variations in Anthocyanin and Flavonoid Concentrations, Phenolic Contents, and Antioxidant Properties. 38
31280417 2019
40
Hospital-based zoonotic disease surveillance in Bangladesh: design, field data and difficulties. 38
31401956 2019
41
Influences of gender, hand dominance, and anthropometric characteristics on different types of pinch strength: A partial least squares (PLS) approach. 38
31109465 2019
42
Optimization of photosynthesis and stomatal conductance in the date palm Phoenix dactylifera during acclimation to heat and drought. 38
31093986 2019
43
Optimization of Cellulase and Xylanase Productions by Streptomyces thermocoprophilus Strain TC13W Using Oil Palm Empty Fruit Bunch and Tuna Condensate as Substrates. 38
30868383 2019
44
Corynebacterium senegalense sp. nov. and Arthrobacter senegalensis sp. nov., two new Actinobacteria isolated from skin swab from the palm of hand. 38
31372232 2019
45
Mechanical characterisation of lignocellulosic fibres using toy bricks tensile tester. 38
31100486 2019
46
Morphology and distribution of antennal sensilla of Automeris liberia (Lepidoptera: Saturniidae). 38
31153011 2019
47
Effects of dietary organic minerals, fish oil, and hydrolyzed collagen on growth performance and tibia characteristics of broiler chickens. 38
31392338 2019
48
Spatial domain organization in the HIV-1 reverse transcriptase p66 homodimer precursor probed by double electron-electron resonance EPR. 38
31383767 2019
49
Dietary supplementation of barley and/or dates attenuate hypercholesterolemic-induced endometrial dysfunction in Wistar albino rats via alleviation of apoptotic pathways and enhancing oxidative capacity. 38
31373029 2019
50
Quantification of Student Radiographic Patient Positioning Using an Immersive Virtual Reality Simulation. 38
31274828 2019

Variations for Pulmonary Alveolar Microlithiasis

ClinVar genetic disease variations for Pulmonary Alveolar Microlithiasis:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 SLC34A2 SLC34A2, 186-BP DEL deletion Pathogenic
2 SLC34A2 SLC34A2, 1-BP DEL, 114A deletion Pathogenic
3 SLC34A2 NM_006424.3(SLC34A2): c.226C> T (p.Gln76Ter) single nucleotide variant Pathogenic rs137853141 4:25664440-25664440 4:25662818-25662818
4 SLC34A2 NM_006424.3(SLC34A2): c.316G> C (p.Gly106Arg) single nucleotide variant Pathogenic rs137853142 4:25665889-25665889 4:25664267-25664267
5 SLC34A2 NM_006424.3(SLC34A2): c.212_224del (p.Asn71fs) deletion Pathogenic rs796065044 4:25664426-25664438 4:25662804-25662816

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

74
# Symbol AA change Variation ID SNP ID
1 SLC34A2 p.Gly106Arg VAR_030677 rs137853142

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 SLC34A3 SLC34A2 SLC34A1
2 vesicle GO:0031982 9.33 SLC34A3 SLC34A2 SLC34A1
3 brush border GO:0005903 9.13 SLC34A3 SLC34A2 SLC34A1
4 brush border membrane GO:0031526 8.8 SLC34A3 SLC34A2 SLC34A1

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

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 sodium ion transport GO:0006814 9.63 SLC34A3 SLC34A2 SLC34A1
2 cellular protein metabolic process GO:0044267 9.62 SLC34A2 SLC34A1 SFTPD FGF23
3 sodium ion transmembrane transport GO:0035725 9.52 SLC34A3 SLC34A2
4 positive regulation of glucose import GO:0046326 9.51 PTH MAPK14
5 response to cadmium ion GO:0046686 9.49 SLC34A1 PTH
6 response to lead ion GO:0010288 9.48 SLC34A1 PTH
7 response to magnesium ion GO:0032026 9.43 SLC34A1 FGF23
8 phosphate ion transport GO:0006817 9.43 SLC34A3 SLC34A2 SLC34A1
9 cellular response to parathyroid hormone stimulus GO:0071374 9.4 SLC34A1 FGF23
10 response to parathyroid hormone GO:0071107 9.37 SLC34A1 PTH
11 sodium-dependent phosphate transport GO:0044341 9.33 SLC34A3 SLC34A2 SLC34A1
12 phosphate ion homeostasis GO:0055062 9.13 SLC34A1 PTH FGF23
13 cellular phosphate ion homeostasis GO:0030643 8.92 SLC34A3 SLC34A2 SLC34A1 FGF23

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 SLC34A3 SLC34A2 SLC34A1
2 sodium:phosphate symporter activity GO:0005436 9.13 SLC34A3 SLC34A2 SLC34A1
3 sodium-dependent phosphate transmembrane transporter activity GO:0015321 8.8 SLC34A3 SLC34A2 SLC34A1

Sources for Pulmonary Alveolar Microlithiasis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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