MCID: PLM017
MIFTS: 49

Pulmonary Alveolar Microlithiasis

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


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:

OMIM 57 265100
Disease Ontology 12 DOID:12117
ICD10 33 J84.02
ICD9CM 35 516.2
MeSH 44 C562405
SNOMED-CT 68 196160008 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, testes and skin, 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)

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 298)
# Related Disease Score Top Affiliating Genes
1 nephrolithiasis 29.8 SLC34A1 SLC34A3
2 hairy palms and soles 12.2
3 pfeiffer-palm-teller syndrome 12.2
4 pustulosis of palm and sole 12.0
5 palmoplantar keratoderma, epidermolytic 11.8
6 cole disease 11.5
7 epidermolysis bullosa simplex, localized 11.5
8 aquagenic syringeal acrokeratoderm 11.5
9 pustulosis palmaris et plantaris 11.4
10 palmoplantar keratoderma, nonepidermolytic, focal 1 11.3
11 autosomal dominant palmoplantar keratoderma and congenital alopecia 11.3
12 porokeratotic eccrine ostial and dermal duct nevus 11.3
13 palmoplantar keratosis 11.2
14 erythema palmare hereditarium 11.2
15 carpal tunnel syndrome 11.1
16 acral lentiginous melanoma 11.1
17 psoriasis 11.1
18 vesicoureteral reflux 1 11.0
19 acanthosis nigricans 11.0
20 adermatoglyphia 11.0
21 tinea nigra 11.0
22 epidermolytic hyperkeratosis 11.0
23 folliculitis 11.0
24 pompholyx 11.0
25 kawasaki disease 11.0
26 ichthyosis, x-linked 10.9
27 nevus comedonicus 10.9
28 syphilis 10.9
29 focal acral hyperkeratosis 10.9
30 palmoplantar keratoderma i, striate, focal, or diffuse 10.9
31 darier-white disease 10.8
32 dupuytren contracture 10.8
33 basan syndrome 10.8
34 epidermolysis bullosa simplex, dowling-meara type 10.8
35 palmoplantar keratoderma, punctate type ia 10.8
36 palmoplantar keratoderma, nagashima type 10.8
37 unna-thost palmoplantar keratoderma 10.8
38 microcephalic primordial dwarfism, montreal type 10.8
39 psoriasis 14, pustular 10.8
40 cantu sanchez-corona hernandez syndrome 10.8
41 palmoplantar keratoderma-sclerodactyly syndrome 10.8
42 vohwinkel syndrome 10.8
43 hypertrichosis lanuginosa congenita 10.8
44 hypertrichosis universalis congenita, ambras type 10.8
45 keratolytic winter erythema 10.8
46 tylosis with esophageal cancer 10.8
47 naegeli-franceschetti-jadassohn syndrome 10.8
48 odontoonychodermal dysplasia 10.8
49 tyrosinemia, type ii 10.8
50 palmoplantar keratoderma, bothnian type 10.8

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:
intraalveolar nodular calcifications ('microliths')
diffuse, bilateral medial and basal lung involvement
progressive pulmonary function impairment
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 PTH SFTPD SLC34A1 SLC34A2 SLC34A3 SMUG1
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, Testes, Skin, Kidney, Prostate, Bone, Heart

Publications for Pulmonary Alveolar Microlithiasis

Articles related to Pulmonary Alveolar Microlithiasis:

(show top 50) (show all 245)
# Title Authors Year
1
Pulmonary alveolar microlithiasis: A case report and review of the literature. ( 29434686 )
2018
2
Pneumothorax secondary to pulmonary alveolar microlithiasis. ( 29636959 )
2018
3
Ultrasonography and computed tomography findings in pulmonary alveolar microlithiasis. ( 29874702 )
2018
4
A novel SLC34A2 mutation in a patient with pulmonary alveolar microlithiasis. ( 28144448 )
2017
5
Calcified Curschmann's spirals and microliths in sputum smears from a case of pulmonary alveolar microlithiasis. ( 28685997 )
2017
6
A Case of Pulmonary Alveolar Microlithiasis Diagnosed by Transbronchial Biopsy. ( 29404178 )
2017
7
An unusual late onset of pulmonary alveolar microlithiasis: A case report and literature review. ( 28626634 )
2017
8
Calcified pulmonary consolidations in pulmonary alveolar microlithiasis: Uncommon computed tomographic appearance of a rare disease. ( 28474663 )
2017
9
Pulmonary alveolar microlithiasis with finger clubbing: A case report and literature review. ( 27073453 )
2016
10
Pulmonary Alveolar Microlithiasis. ( 27514591 )
2016
11
A rare indication for lung transplantation - pulmonary alveolar microlithiasis: institutional experience of five consecutive cases. ( 26841075 )
2016
12
Pulmonary Alveolar Microlithiasis &amp;quot;Stone Lungs&amp;quot;: A Case of Clinico-Radiological Dissociation. ( 27688986 )
2016
13
Diagnosis and treatment of pulmonary alveolar microlithiasis. ( 27553891 )
2016
14
Pulmonary Alveolar Microlithiasis. ( 27445543 )
2016
15
Pulmonary Alveolar Microlithiasis - Clinico-Radiological dissociation - A case report with Radiological review. ( 27200151 )
2016
16
Spectrum of Clinical Presentation of Pulmonary Alveolar Microlithiasis: Case Series from North India. ( 28393512 )
2016
17
Pulmonary Alveolar Microlithiasis: AIRP Best Cases in Radiologic-Pathologic Correlation. ( 27618319 )
2016
18
A case of pulmonary alveolar microlithiasis associated with a homozygous 195 kb deletion encompassing the entire SLC34A2 gene. ( 27099741 )
2016
19
Modeling pulmonary alveolar microlithiasis by epithelial deletion of the Npt2b sodium phosphate cotransporter reveals putative biomarkers and strategies for treatment. ( 26560359 )
2015
20
The sodium-phosphate co-transporter SLC34A2, and pulmonary alveolar microlithiasis: Presentation of an inbred family and a novel truncating mutation in exon 3. ( 26744662 )
2015
21
Pulmonary alveolar microlithiasis: an interesting case report with systematic review of Indian literature. ( 26024716 )
2015
22
Chest ultrasound findings in pulmonary alveolar microlithiasis. ( 26576988 )
2015
23
Response to Disodium Etidronate Treatment in Three Siblings with Pulmonary Alveolar Microlithiasis. ( 25823495 )
2015
24
A rare case of pulmonary alveolar microlithiasis. ( 26643188 )
2015
25
Can chest high-resolution computed tomography findings diagnose pulmonary alveolar microlithiasis? ( 26379317 )
2015
26
Microlithiasis of Seminal Vesicles and Severe Oligoasthenospermia in Pulmonary Alveolar Microlithiasis (PAM): Report of An Unusual Sporadic Case. ( 25918602 )
2015
27
Pulmonary alveolar microlithiasis: review of the 1022 cases reported worldwide. ( 26621975 )
2015
28
Diffuse pulmonary uptake of bone-seeking radiotracer in bone scintigraphy of a rare case of pulmonary alveolar microlithiasis. ( 26170578 )
2015
29
Diagnosis of pulmonary alveolar microlithiasis. ( 26543293 )
2015
30
Lung transplantation in an intensive care patient with pulmonary alveolar microlithiasis - a case report. ( 25165536 )
2014
31
SLC34A2 gene compound heterozygous mutation identification in a patient with pulmonary alveolar microlithiasis and computational 3D protein structure prediction. ( 25606438 )
2014
32
A pedigree with pulmonary alveolar microlithiasis: a clinical case report and literature review. ( 24817643 )
2014
33
First presentation of a case of pulmonary alveolar microlithiasis with spontaneous pneumothorax. ( 25584164 )
2014
34
Pulmonary alveolar microlithiasis: report of two brothers with the same illness and review of literature. ( 24686795 )
2014
35
Extensive pulmonary alveolar microlithiasis. ( 25473548 )
2014
36
A 55 years old man with pulmonary alveolar microlithiasis. ( 25125824 )
2014
37
Right single-lung transplantation for pulmonary alveolar microlithiasis. ( 24258203 )
2014
38
Pulmonary alveolar microlithiasis with concurrent pleural mesothelioma in a dog. ( 24081932 )
2013
39
Pulmonary alveolar microlithiasis. ( 23910120 )
2013
40
Pulmonary alveolar microlithiasis: imaging characteristics of planar and SPECT/CT bone scan versus 18F-FDG and 18F-sodium fluoride PET/CT scanning. ( 24085587 )
2013
41
Pulmonary alveolar microlithiasis: a rare case report. ( 24174699 )
2013
42
Pulmonary alveolar microlithiasis. ( 23741096 )
2013
43
Sandstorm appearance of pulmonary alveolar microlithiasis incidentally detected in a young, asymptomatic male. ( 24043987 )
2013
44
SLC34A2 Gene mutation of pulmonary alveolar microlithiasis: report of four cases and review of literatures. ( 23164546 )
2013
45
Pulmonary alveolar microlithiasis. State-of-the-art review. ( 23183116 )
2013
46
Pulmonary Alveolar Microlithiasis (PAM) in a Child. ( 24292320 )
2013
47
Pulmonary alveolar microlithiasis and probe-based confocal laser endomicroscopy. ( 23609253 )
2013
48
Pulmonary alveolar microlithiasis: a rare cause of right heart failure. ( 23814210 )
2013
49
Pulmonary alveolar microlithiasis. ( 24339508 )
2013
50
Pediatric pulmonary alveolar microlithiasis: a case report. ( 25191486 )
2013

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 9.65 SLC34A1 SLC34A2 SLC34A3
2 sodium ion transmembrane transport GO:0035725 9.58 SLC34A1 SLC34A2 SLC34A3
3 cellular protein metabolic process GO:0044267 9.56 FGF23 SFTPD SLC34A1 SLC34A2
4 response to cadmium ion GO:0046686 9.51 PTH SLC34A1
5 response to lead ion GO:0010288 9.49 PTH SLC34A1
6 response to magnesium ion GO:0032026 9.46 FGF23 SLC34A1
7 cellular response to parathyroid hormone stimulus GO:0071374 9.43 FGF23 SLC34A1
8 response to parathyroid hormone GO:0071107 9.37 PTH SLC34A1
9 phosphate ion transport GO:0006817 9.33 SLC34A1 SLC34A2 SLC34A3
10 phosphate ion homeostasis GO:0055062 9.32 FGF23 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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