PULAM
MCID: PLM017
MIFTS: 50

Pulmonary Alveolar Microlithiasis (PULAM)

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 56 12 52 25 58 73 36 29 13 6 43 15 39 71
Pam 25 3
Pulam 56
Palm 73

Characteristics:

Orphanet epidemiological data:

58
pulmonary alveolar microlithiasis
Inheritance: Autosomal recessive,Not applicable; Age of onset: All ages;

OMIM:

56
Inheritance:
autosomal recessive

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


HPO:

31
pulmonary alveolar microlithiasis:
Inheritance autosomal recessive inheritance
Onset and clinical course onset slow progression diffuse


Classifications:

Orphanet: 58  
Rare respiratory diseases


External Ids:

Disease Ontology 12 DOID:12117
OMIM 56 265100
KEGG 36 H01298
ICD9CM 34 516.2
MeSH 43 C562405
SNOMED-CT 67 87153008
ICD10 32 J84.02
ICD10 via Orphanet 33 J84.0
UMLS via Orphanet 72 C0155912
Orphanet 58 ORPHA60025
MedGen 41 C0155912
SNOMED-CT via HPO 68 19648000 258211005
UMLS 71 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 pulmonary fibrosis and nephrocalcinosis. An important gene associated with Pulmonary Alveolar Microlithiasis is SLC34A2 (Solute Carrier Family 34 Member 2), and among its related pathways/superpathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Parathyroid hormone synthesis, secretion and action. Affiliated tissues include lung, skin and kidney, and related phenotypes are restrictive deficit on pulmonary function testing and progressive pulmonary function impairment

NIH Rare Diseases : 52 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 : 56 Pulmonary alveolar microlithiasis (PULAM) 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 : 36 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 : 73 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 : 74 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 779)
# Related Disease Score Top Affiliating Genes
1 pulmonary fibrosis 30.2 SFTPD SFTPA2 ABCA3
2 nephrocalcinosis 30.1 SLC34A3 SLC34A1 FGF23
3 nephrolithiasis, calcium oxalate 30.0 SLC34A3 SLC34A1 FGF23
4 testicular microlithiasis 30.0 SLC34A2 GALNT3
5 oncogenic osteomalacia 29.6 MEPE FGF23
6 calcinosis 29.6 MEPE GALNT3 FGF23
7 rickets 29.4 SLC34A3 SLC34A1 MEPE FGF23
8 osteomalacia 29.3 SLC34A3 SLC34A1 MEPE FGF23
9 hypophosphatemia 29.1 SLC34A3 SLC34A1 MEPE FGF23
10 hairy palms and soles 12.7
11 pfeiffer-palm-teller syndrome 12.5
12 pustulosis of palm and sole 12.5
13 palmoplantar keratoderma, epidermolytic 12.0
14 aquagenic syringeal acrokeratoderma 12.0
15 pustulosis palmaris et plantaris 11.9
16 cole disease 11.8
17 porokeratotic eccrine ostial and dermal duct nevus 11.8
18 epidermolysis bullosa simplex, localized 11.8
19 palmoplantar keratoderma and congenital alopecia 1 11.7
20 palmoplantar keratoderma, nonepidermolytic, focal 1 11.7
21 huriez syndrome 11.7
22 microcephalic primordial dwarfism, montreal type 11.7
23 dupuytren contracture 11.6
24 palmoplantar keratosis 11.5
25 carpal tunnel syndrome 11.5
26 erythema palmare hereditarium 11.5
27 epidermolytic hyperkeratosis 11.5
28 epidermolysis bullosa simplex 11.5
29 psoriasis 11.4
30 coffin-siris syndrome 1 11.4
31 acral lentiginous melanoma 11.4
32 pompholyx 11.4
33 mal de meleda 11.4
34 autosomal recessive congenital ichthyosis 11.4
35 adermatoglyphia 11.3
36 acanthosis nigricans 11.3
37 kawasaki disease 11.3
38 granuloma annulare 11.3
39 syphilis 11.3
40 tinea nigra 11.2
41 osteopetrosis, autosomal dominant 2 11.2
42 isolated growth hormone deficiency, type ii 11.2
43 pettigrew syndrome 11.2
44 waardenburg syndrome, type 2b 11.2
45 chromosome 6q24-q25 deletion syndrome 11.2
46 coffin-siris syndrome 4 11.2
47 differentiating neuroblastoma 11.2
48 basal cell nevus syndrome 11.2
49 nevus comedonicus 11.2
50 folliculitis 11.2

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:

31
# Description HPO Frequency HPO Source Accession
1 restrictive deficit on pulmonary function testing 31 HP:0002111
2 progressive pulmonary function impairment 31 HP:0006520
3 intraalveolar nodular calcifications 31 HP:0006514

Symptoms via clinical synopsis from OMIM:

56
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:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.85 ABCA3 FGF23 GALNT3 LPCAT1 SFTPD SLC20A1
2 cardiovascular system MP:0005385 9.8 ABCA3 FGF23 GALNT3 LPCAT1 SLC20A1 SLC20A2
3 renal/urinary system MP:0005367 9.43 ABCA3 FGF23 GALNT3 SLC34A1 SLC34A2 SLC34A3
4 skeleton MP:0005390 9.17 FGF23 GALNT3 MEPE SLC20A1 SLC20A2 SLC34A1

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:

40
Lung, Skin, Kidney, Heart, Testes, Brain, Bone

Publications for Pulmonary Alveolar Microlithiasis

Articles related to Pulmonary Alveolar Microlithiasis:

(show top 50) (show all 379)
# Title Authors PMID Year
1
Mutations in SLC34A2 cause pulmonary alveolar microlithiasis and are possibly associated with testicular microlithiasis. 61 56 6
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. 61 56 6
11287838 2001
3
Images in clinical medicine. Pulmonary alveolar microlithiasis. 61 56
12700375 2003
4
Pulmonary alveolar microlithiasis: clinical features, evolution of the phenotype, and review of the literature. 61 56
12210357 2002
5
Pulmonary alveolar microlithiasis: review of Turkish reports. 61 56
8493634 1993
6
An unusual presentation of pulmonary alveolar microlithiasis and diaphyseal aclasia. 61 56
1540813 1992
7
Pulmonary alveolar microlithiasis. A review including ultrastructural and pulmonary function studies. 61 56
6341721 1983
8
Transbronchial biopsy of pulmonary alveolar microlithiasis. 61 56
6824405 1983
9
Pulmonary alveolar microlithiasis. Report of five cases with special reference to roentgen manifestations. 61 56
5659961 1968
10
Pulmonary alveolar microlithiasis--a family study. 61 56
6050821 1967
11
[The heredity of pulmonary alveolar microlithiasis. Apropos of a new familial observation]. 61 56
5298976 1967
12
[Infantile familial pulmonary alveolar microlithiasis. Description of 5 cases in 2 families]. 61 56
5847607 1965
13
PULMONARY ALVEOLAR MICROLITHIASIS; A REPORT OF TWO YOUNGEST CASES IN A FAMILY. 61 56
14051603 1963
14
Pulmonary alveolar microlithiasis. 61 56
13926265 1962
15
Familial pulmonary alveolar microlithiasis: four cases from Colombia, S. A.; is microlithiasis also environmental disease. 61 56
13645985 1959
16
The familial occurrence of pulmonary alveolar microlithiasis. 61 56
13424823 1957
17
PULMONARY ALVEOLAR MICROLITBIASIS OCCURRING IN PREMATURE TWINS. 56
14271368 1965
18
[Microlithiasis of the pulmonary alveoli]. 56
13887878 1962
19
Childhood diffuse parenchymal lung diseases: We need a new classification. 61
31724297 2020
20
Pulmonary alveolar microlithiasis: A report of two unique cases. 61
31890557 2020
21
Pulmonary alveolar microlithiasis: Incidental finding - should we Ignore? 61
32039063 2020
22
Images of the month 1: Cough before the storm: A case of pulmonary alveolar microlithiasis. 61
31941744 2020
23
Eight novel variants in the SLC34A2 gene in pulmonary alveolar microlithiasis. 61
31831582 2019
24
Pulmonary alveolar microlithiasis and interstitial pneumonitis: a case report of the west of Iran. 61
31724942 2019
25
Pulmonary alveolar microlithiasis: A rare disease treated with lung transplantation, first case from India. 61
31670305 2019
26
Pulmonary Alveolar Microlithiasis in Children Less than 5 Years of Age. 61
31761429 2019
27
An "Orphan" in search of a treatment: Pulmonary alveolar microlithiasis. 61
31670307 2019
28
Single-lung transplantation for pulmonary alveolar microlithiasis: A case report. 61
31799314 2019
29
Pulmonary alveolar microlithiasis: often misdiagnosed in children. 61
31315848 2019
30
Pulmonary Hypertension and Polycythemia Secondary to Pulmonary Alveolar Microlithiasis Treated with Sequential Bilateral Lung Transplant: A Case Study and Literature Review. 61
31352464 2019
31
Pulmonary alveolar microlithiasis diagnosed with radiography, CT, and bone scintigraphy. 61
31011377 2019
32
Calcium-solubilizing sodium thiosulfate failed to improve pulmonary alveolar microlithiasis: Evaluation of calcium content with CT scan. 61
31235452 2019
33
Case series of Pulmonary Alveolar Microlithiasis from India. 61
30904891 2019
34
Progressive Sandstorm Lung in Pulmonary Alveolar Microlithiasis. 61
30086281 2019
35
Clinical aspects of the phosphate transporters NaPi-IIa and NaPi-IIb: mutations and disease associations. 61
30542787 2019
36
Ultrasonography and computed tomography findings in pulmonary alveolar microlithiasis. 61
29874702 2018
37
Novel deletion of SLC34A2 in Chinese patients of PAM shares mutation hot spot with fusion gene SLC34A2-ROS1 in lung cancer. 61
30262706 2018
38
Pulmonary Alveolar Microlithiasis: A commonly misdiagnosed rare entity. 61
30210859 2018
39
Pneumothorax secondary to pulmonary alveolar microlithiasis. 61
29636959 2018
40
Pulmonary alveolar microlithiasis: A case report and review of the literature. 61
29434686 2018
41
Effect of SLC34A2 gene mutation on extracellular phosphorus transport in PAM alveolar epithelial cells. 61
29375690 2018
42
Calcified Curschmann's spirals and microliths in sputum smears from a case of pulmonary alveolar microlithiasis. 61
28685997 2017
43
A Case of Pulmonary Alveolar Microlithiasis Diagnosed by Transbronchial Biopsy. 61
29404178 2017
44
Calcified pulmonary consolidations in pulmonary alveolar microlithiasis: Uncommon computed tomographic appearance of a rare disease. 61
28474663 2017
45
An unusual late onset of pulmonary alveolar microlithiasis: A case report and literature review. 61
28626634 2017
46
A novel SLC34A2 mutation in a patient with pulmonary alveolar microlithiasis. 61
28144448 2017
47
Pulmonary Alveolar Microlithiasis: AIRP Best Cases in Radiologic-Pathologic Correlation. 61
27618319 2016
48
Pulmonary Alveolar Microlithiasis. 61
27514591 2016
49
Diagnosis and treatment of pulmonary alveolar microlithiasis. 61
27553891 2016
50
Pulmonary Alveolar Microlithiasis "Stone Lungs": A Case of Clinico-Radiological Dissociation. 61
27688986 2016

Variations for Pulmonary Alveolar Microlithiasis

ClinVar genetic disease variations for Pulmonary Alveolar Microlithiasis:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SLC34A2 NM_006424.3(SLC34A2):c.212_224del (p.Asn71fs)deletion Pathogenic 208162 rs796065044 4:25664426-25664438 4:25662804-25662816
2 SLC34A2 SLC34A2, 1-BP DEL, 114Adeletion Pathogenic 5715
3 SLC34A2 NM_006424.3(SLC34A2):c.226C>T (p.Gln76Ter)SNV Pathogenic 5716 rs137853141 4:25664440-25664440 4:25662818-25662818
4 SLC34A2 SLC34A2, 186-BP DELdeletion Pathogenic 5714
5 SLC34A2 NM_006424.3(SLC34A2):c.316G>C (p.Gly106Arg)SNV Pathogenic 5717 rs137853142 4:25665889-25665889 4:25664267-25664267

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

73
# 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

Pathways related to Pulmonary Alveolar Microlithiasis according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.86 SLC34A3 SLC34A2 SLC34A1 SLC20A2 SLC20A1 ABCA3
2 11.28 SLC34A3 SLC34A2 SLC34A1 FGF23
3 11.1 SLC34A3 SLC34A2 SLC34A1
4
Show member pathways
11.03 SFTPD SFTPA2
5
Show member pathways
10.72 SFTPD SFTPA2
6
Show member pathways
10.65 SLC34A2 SLC34A1 SFTPD SFTPA2 ABCA3

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 vesicle GO:0031982 9.33 SLC34A3 SLC34A2 SLC34A1
2 clathrin-coated endocytic vesicle GO:0045334 9.26 SFTPD SFTPA2
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 18)
# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 9.91 SLC34A3 SLC34A2 SLC34A1 SLC20A2 SLC20A1
2 transmembrane transport GO:0055085 9.89 SLC34A3 SLC34A2 SLC20A2 SLC20A1 ABCA3
3 sodium ion transport GO:0006814 9.72 SLC34A3 SLC34A2 SLC34A1 SLC20A2 SLC20A1
4 sodium ion transmembrane transport GO:0035725 9.71 SLC34A3 SLC34A2 SLC20A2 SLC20A1
5 cellular protein metabolic process GO:0044267 9.7 SLC34A2 SLC34A1 SFTPD SFTPA2 MEPE FGF23
6 toll-like receptor signaling pathway GO:0002224 9.58 SFTPD SFTPA2
7 biomineral tissue development GO:0031214 9.57 SLC20A1 MEPE
8 respiratory gaseous exchange GO:0007585 9.56 SFTPD SFTPA2
9 developmental process GO:0032502 9.55 SFTPD SFTPA2
10 phosphate-containing compound metabolic process GO:0006796 9.54 SLC20A1 FGF23
11 phosphate ion transmembrane transport GO:0035435 9.54 SLC34A1 SLC20A2 SLC20A1
12 response to magnesium ion GO:0032026 9.52 SLC34A1 FGF23
13 cellular response to parathyroid hormone stimulus GO:0071374 9.48 SLC34A1 FGF23
14 surfactant homeostasis GO:0043129 9.46 SFTPD LPCAT1
15 phosphate ion homeostasis GO:0055062 9.43 SLC34A1 FGF23
16 sodium-dependent phosphate transport GO:0044341 9.43 SLC34A3 SLC34A2 SLC34A1
17 cellular phosphate ion homeostasis GO:0030643 9.26 SLC34A3 SLC34A2 SLC34A1 FGF23
18 phosphate ion transport GO:0006817 9.02 SLC34A3 SLC34A2 SLC34A1 SLC20A2 SLC20A1

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

# Name GO ID Score Top Affiliating Genes
1 carbohydrate binding GO:0030246 9.58 SFTPD SFTPA2 GALNT3
2 symporter activity GO:0015293 9.55 SLC34A3 SLC34A2 SLC34A1 SLC20A2 SLC20A1
3 monosaccharide binding GO:0048029 9.37 SFTPD SFTPA2
4 inorganic phosphate transmembrane transporter activity GO:0005315 9.32 SLC20A2 SLC20A1
5 sodium:inorganic phosphate symporter activity GO:0015319 9.26 SLC20A2 SLC20A1
6 sodium-dependent phosphate transmembrane transporter activity GO:0015321 9.13 SLC34A3 SLC34A2 SLC34A1
7 sodium:phosphate symporter activity GO:0005436 9.02 SLC34A3 SLC34A2 SLC34A1 SLC20A2 SLC20A1

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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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