PULAM
MCID: PLM017
MIFTS: 48

Pulmonary Alveolar Microlithiasis (PULAM)

Categories: Blood diseases, Genetic diseases, Nephrological diseases, Rare diseases, Respiratory diseases

Aliases & Classifications for Pulmonary Alveolar Microlithiasis

MalaCards integrated aliases for Pulmonary Alveolar Microlithiasis:

Name: Pulmonary Alveolar Microlithiasis 57 12 20 43 58 72 36 29 13 6 44 15 39 70
Pulam 57 72
Pam 43

Characteristics:

Orphanet epidemiological data:

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

OMIM®:

57 (Updated 05-Apr-2021)
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® 57 265100
KEGG 36 H01298
ICD9CM 34 516.2
MeSH 44 C562405
SNOMED-CT 67 196160008
ICD10 32 J84.02
ICD10 via Orphanet 33 J84.0
UMLS via Orphanet 71 C0155912
Orphanet 58 ORPHA60025
MedGen 41 C0155912
SNOMED-CT via HPO 68 19648000 258211005 36485005
UMLS 70 C0155912

Summaries for Pulmonary Alveolar Microlithiasis

MedlinePlus Genetics : 43 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 pulam, is related to nephrolithiasis and testicular microlithiasis. 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, testes and prostate, and related phenotypes are restrictive ventilatory defect and progressive pulmonary function impairment

Disease Ontology : 12 A lung disease that is characterized the accumulation of tiny fragments of calcium phosphate gradually accumulate in the alveoli of the lungs.

GARD : 20 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 (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) (Updated 05-Apr-2021)

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 : 72 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 : 73 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 98)
# Related Disease Score Top Affiliating Genes
1 nephrolithiasis 30.2 SLC34A3 SLC34A1 FGF23
2 testicular microlithiasis 30.2 SLC34A2 GALNT3
3 pulmonary fibrosis 30.1 SFTPD SFTPA2 ABCA3
4 calcinosis 30.0 MEPE GALNT3 FGF23
5 interstitial lung disease 30.0 SFTPD SFTPA2 ABCA3
6 lung disease 10.7
7 respiratory failure 10.7
8 autosomal recessive disease 10.7
9 pulmonary hypertension 10.5
10 miliary tuberculosis 10.4
11 sarcoidosis 1 10.3
12 pneumothorax 10.3
13 pulmonary tuberculosis 10.3
14 hereditary hypophosphatemic rickets 10.3 SLC34A3 SLC34A1
15 fanconi renotubular syndrome 2 10.2 SLC34A3 SLC34A1
16 blount's disease 10.2 SLC34A3 FGF23
17 pneumothorax, primary spontaneous 10.2
18 cyanosis, transient neonatal 10.2
19 heart disease 10.2
20 hyperlipoproteinemia, type v 10.1 SLC34A2 FGF23
21 chronic congestive splenomegaly 10.1 SLC34A2 ABCA3
22 ventilation pneumonitis 10.1 SFTPD ABCA3
23 pulmonary interstitial emphysema 10.1 SFTPD ABCA3
24 nephrolithiasis/osteoporosis, hypophosphatemic, 1 10.1 SLC34A3 SLC34A1 FGF23
25 oncogenic osteomalacia 10.1 MEPE FGF23
26 fanconi syndrome 10.1 SLC34A3 SLC34A1 FGF23
27 pectus excavatum 10.0
28 pulmonary fibrosis, idiopathic 10.0
29 pulmonary hypertension, primary, 1 10.0
30 microphthalmia with limb anomalies 10.0
31 rheumatic fever-related antigen 10.0
32 fryns microphthalmia syndrome 10.0
33 mycobacterium tuberculosis 1 10.0
34 urolithiasis 10.0
35 cholelithiasis 10.0
36 pneumoconiosis 10.0
37 silicosis 10.0
38 anthracosis 10.0
39 common cold 10.0
40 miliaria rubra 10.0
41 t cell deficiency 10.0
42 hemosiderosis 10.0
43 pulmonary alveolar proteinosis 10.0
44 male infertility 10.0
45 nephrocalcinosis 10.0
46 pulmonary sarcoidosis 10.0
47 miliaria 10.0
48 azoospermia 10.0
49 rheumatic fever 10.0
50 benign mesothelioma 10.0

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 ventilatory defect 31 HP:0002091
2 progressive pulmonary function impairment 31 HP:0006520
3 intraalveolar nodular calcifications 31 HP:0006514

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
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 (Updated 05-Apr-2021)

MGI Mouse Phenotypes related to Pulmonary Alveolar Microlithiasis:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 9.96 ABCA3 FGF23 GALNT3 SFTPD SLC20A1 SLC20A2
2 cardiovascular system MP:0005385 9.92 ABCA3 FGF23 GALNT3 LPCAT1 SLC20A1 SLC20A2
3 homeostasis/metabolism MP:0005376 9.9 ABCA3 FGF23 GALNT3 LPCAT1 SFTPD SLC20A1
4 renal/urinary system MP:0005367 9.43 ABCA3 FGF23 GALNT3 SLC34A1 SLC34A2 SLC34A3
5 skeleton MP:0005390 9.17 FGF23 GALNT3 MEPE SLC20A1 SLC20A2 SLC34A1

Drugs & Therapeutics for Pulmonary Alveolar Microlithiasis

Search Clinical Trials , 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, Testes, Prostate, Bone, Heart

Publications for Pulmonary Alveolar Microlithiasis

Articles related to Pulmonary Alveolar Microlithiasis:

(show top 50) (show all 394)
# Title Authors PMID Year
1
Mutations in SLC34A2 cause pulmonary alveolar microlithiasis and are possibly associated with testicular microlithiasis. 57 6 61
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 6 57
11287838 2001
3
Images in clinical medicine. Pulmonary alveolar microlithiasis. 57 61
12700375 2003
4
Pulmonary alveolar microlithiasis: clinical features, evolution of the phenotype, and review of the literature. 61 57
12210357 2002
5
Pulmonary alveolar microlithiasis: review of Turkish reports. 57 61
8493634 1993
6
An unusual presentation of pulmonary alveolar microlithiasis and diaphyseal aclasia. 61 57
1540813 1992
7
Pulmonary alveolar microlithiasis. A review including ultrastructural and pulmonary function studies. 61 57
6341721 1983
8
Transbronchial biopsy of pulmonary alveolar microlithiasis. 61 57
6824405 1983
9
Pulmonary alveolar microlithiasis. Report of five cases with special reference to roentgen manifestations. 61 57
5659961 1968
10
Pulmonary alveolar microlithiasis--a family study. 61 57
6050821 1967
11
[The heredity of pulmonary alveolar microlithiasis. Apropos of a new familial observation]. 61 57
5298976 1967
12
[Infantile familial pulmonary alveolar microlithiasis. Description of 5 cases in 2 families]. 61 57
5847607 1965
13
PULMONARY ALVEOLAR MICROLITHIASIS; A REPORT OF TWO YOUNGEST CASES IN A FAMILY. 61 57
14051603 1963
14
Pulmonary alveolar microlithiasis. 61 57
13926265 1962
15
Familial pulmonary alveolar microlithiasis: four cases from Colombia, S. A.; is microlithiasis also environmental disease. 57 61
13645985 1959
16
The familial occurrence of pulmonary alveolar microlithiasis. 61 57
13424823 1957
17
PULMONARY ALVEOLAR MICROLITBIASIS OCCURRING IN PREMATURE TWINS. 57
14271368 1965
18
[Microlithiasis of the pulmonary alveoli]. 57
13887878 1962
19
Pulmonary Alveolar Microlithiasis Complicated by Tuberculosis. 61
33704940 2021
20
Pulmonary Alveolar Microlithiasis. 61
33434115 2021
21
Pulmonary alveolar microlithiasis. 61
33486530 2021
22
Intractable diffuse pulmonary diseases: Manual for diagnosis and treatment. 61
32622842 2021
23
Pulmonary alveolar microlithiasis. 61
33246992 2020
24
Pulmonary alveolar microlithiasis presenting with progressive dyspnoea. 61
33135922 2020
25
Clinicopathological and imaging features of pulmonary alveolar microlithiasis in a dog - a case report. 61
33028333 2020
26
Subtle Clinical Presentation of Pulmonary Alveolar Microlithiasis. 61
32844769 2020
27
Tricuspid valve calcification in familial pulmonary alveolar microlithiasis: A case report. 61
32528675 2020
28
Pulmonary alveolar microlithiasis: no longer in the stone age. 61
32964001 2020
29
Pulmonary Alveolar Microlithiasis. 61
32279298 2020
30
Pulmonary Alveolar Microlithiasis: A Case Report. 61
32328294 2020
31
First report of pulmonary alveolar microlithiasis diagnosed by cryobiopsy. 61
32108613 2020
32
Pulmonary Alveolar Microlithiasis in Children Less than 5 Years of Age. 61
31761429 2020
33
Eight novel variants in the SLC34A2 gene in pulmonary alveolar microlithiasis. 61
31831582 2020
34
Pulmonary Alveolar Microlithiasis: a Case Report in King Hussein Medical Center (KHMC), Amman, Jordan. 61
32317840 2020
35
Childhood diffuse parenchymal lung diseases: We need a new classification. 61
31724297 2020
36
Pulmonary Alveolar Microlithiasis: An Isolated Case in a Hispanic Male. 61
32411490 2020
37
Images of the month 1: Cough before the storm: A case of pulmonary alveolar microlithiasis. 61
31941744 2020
38
Pulmonary alveolar microlithiasis: A report of two unique cases. 61
31890557 2020
39
Pulmonary alveolar microlithiasis: Incidental finding - should we Ignore? 61
32039063 2020
40
Pulmonary alveolar microlithiasis and interstitial pneumonitis: a case report of the west of Iran. 61
31724942 2019
41
Single-lung transplantation for pulmonary alveolar microlithiasis: A case report. 61
31799314 2019
42
An "Orphan" in search of a treatment: Pulmonary alveolar microlithiasis. 61
31670307 2019
43
Pulmonary alveolar microlithiasis: A rare disease treated with lung transplantation, first case from India. 61
31670305 2019
44
Pulmonary alveolar microlithiasis: often misdiagnosed in children. 61
31315848 2019
45
Pulmonary Hypertension and Polycythemia Secondary to Pulmonary Alveolar Microlithiasis Treated with Sequential Bilateral Lung Transplant: A Case Study and Literature Review. 61
31352464 2019
46
Pulmonary alveolar microlithiasis diagnosed with radiography, CT, and bone scintigraphy. 61
31011377 2019
47
Calcium-solubilizing sodium thiosulfate failed to improve pulmonary alveolar microlithiasis: Evaluation of calcium content with CT scan. 61
31235452 2019
48
Case series of Pulmonary Alveolar Microlithiasis from India. 61
30904891 2019
49
Progressive Sandstorm Lung in Pulmonary Alveolar Microlithiasis. 61
30086281 2019
50
Clinical aspects of the phosphate transporters NaPi-IIa and NaPi-IIb: mutations and disease associations. 61
30542787 2019

Variations for Pulmonary Alveolar Microlithiasis

ClinVar genetic disease variations for Pulmonary Alveolar Microlithiasis:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SLC34A2 SLC34A2, 186-BP DEL Deletion Pathogenic 5714 GRCh37:
GRCh38:
2 SLC34A2 SLC34A2, 1-BP DEL, 114A Deletion Pathogenic 5715 GRCh37:
GRCh38:
3 SLC34A2 NM_006424.3(SLC34A2):c.226C>T (p.Gln76Ter) SNV Pathogenic 5716 rs137853141 GRCh37: 4:25664440-25664440
GRCh38: 4:25662818-25662818
4 SLC34A2 NM_006424.3(SLC34A2):c.316G>C (p.Gly106Arg) SNV Pathogenic 5717 rs137853142 GRCh37: 4:25665889-25665889
GRCh38: 4:25664267-25664267
5 SLC34A2 NM_006424.3(SLC34A2):c.212_224del (p.Asn71fs) Deletion Pathogenic 208162 rs796065044 GRCh37: 4:25664426-25664438
GRCh38: 4:25662804-25662816
6 SLC34A2 NM_006424.3(SLC34A2):c.1333+1G>A SNV Pathogenic 1031048 GRCh37: 4:25676035-25676035
GRCh38: 4:25674413-25674413
7 SLC34A2 NM_006424.3(SLC34A2):c.1458+2T>C SNV Pathogenic 1033106 GRCh37: 4:25676253-25676253
GRCh38: 4:25674631-25674631
8 SLC34A2 NM_006424.3(SLC34A2):c.1244C>G (p.Thr415Ser) SNV Uncertain significance 1033105 GRCh37: 4:25675945-25675945
GRCh38: 4:25674323-25674323

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

72
# 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 9.43 SLC34A3 SLC34A2 SLC34A1
2 multivesicular body GO:0005771 9.32 SFTPD SFTPA2
3 clathrin-coated endocytic vesicle GO:0045334 9.16 SFTPD SFTPA2
4 brush border GO:0005903 9.13 SLC34A3 SLC34A2 SLC34A1
5 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 17)
# 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 9.8 SLC34A3 SLC34A2 SLC34A1 SLC20A2 SLC20A1
4 sodium ion transmembrane transport GO:0035725 9.77 SLC34A3 SLC34A2 SLC34A1 SLC20A2 SLC20A1
5 surfactant homeostasis GO:0043129 9.61 SFTPD LPCAT1 ABCA3
6 toll-like receptor signaling pathway GO:0002224 9.57 SFTPD SFTPA2
7 biomineral tissue development GO:0031214 9.56 SLC20A1 MEPE
8 phosphate ion transmembrane transport GO:0035435 9.56 SLC34A1 SLC25A3 SLC20A2 SLC20A1
9 respiratory gaseous exchange GO:0007585 9.55 SFTPD SFTPA2
10 phosphate-containing compound metabolic process GO:0006796 9.54 SLC20A1 FGF23
11 response to magnesium ion GO:0032026 9.52 SLC34A1 FGF23
12 sodium-dependent phosphate transport GO:0044341 9.5 SLC34A3 SLC34A2 SLC34A1
13 cellular protein metabolic process GO:0044267 9.5 SLC34A2 SLC34A1 SFTPD SFTPA2 MEPE FGF23
14 cellular response to parathyroid hormone stimulus GO:0071374 9.48 SLC34A1 FGF23
15 phosphate ion homeostasis GO:0055062 9.46 SLC34A1 FGF23
16 cellular phosphate ion homeostasis GO:0030643 9.46 SLC34A3 SLC34A2 SLC34A1 FGF23
17 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 9.43 SFTPD SFTPA2 GALNT3
2 symporter activity GO:0015293 9.43 SLC34A3 SLC34A2 SLC34A1 SLC25A3 SLC20A2 SLC20A1
3 inorganic phosphate transmembrane transporter activity GO:0005315 9.33 SLC25A3 SLC20A2 SLC20A1
4 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
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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