Pulmonary Alveolar Microlithiasis

Table of contents:

Description
Related genes
Clinical Features
Incidence and onset information
Alternative Names
Researches and researchers
Gene Panels
Sources and references

Description

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).

Genes related to Pulmonary Alveolar Microlithiasis

SLC34A2

View recommended genes panels

Clinical Features

Top most frequent phenotypes and symptoms related to Pulmonary Alveolar Microlithiasis

Pain
Respiratory distress
Respiratory failure
Dyspnea
Cough
Chest pain
Abnormal lung morphology
Interstitial pulmonary abnormality
Exostoses
Cor pulmonale

And another 4 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
— No data available about the known clinical features onset.

Researches and researchers

Doctors, researchs, and experts related to Pulmonary Alveolar Microlithiasis extracted from public data.

Pulmonary Alveolar Microlithiasis Experts map

Current Researchs and researchers

MILANO — Dr Sergio HARARI
Coordinator of expert centre - Principal investigator of clinical trial - Coordinator of research network
- Institution/s:
  — Ospedale San Giuseppe
  — Ospedale San Giuseppe
- Research area/topic::
  Il Polmone.it - Malattie Rare Polmonari

Pulmonary Alveolar Microlithiasis Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Interstitial Lung Disease Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics (United States). SFTPA2, SFTPB, SFTPC, SLC34A2, SLC7A7, SMPD1, STAT3, TERC, TERT, TINF2, NKX2-1, TSC1, TSC2, HPS4, RTEL1, CFTR, CSF2RB, FLCN, DKC1, ABCA3 , (...) View the complete list with 4 more genes Panel complete gene list SFTPA2, SFTPB, SFTPC, SLC34A2, SLC7A7, SMPD1, STAT3, TERC, TERT, TINF2, NKX2-1, TSC1, TSC2, HPS4, RTEL1, CFTR, CSF2RB, FLCN, DKC1, ABCA3, HPS1, ITGA3, NF1, PARN Specificity 5 % Genes 100 %
SLC34A2. By Fulgent Genetics Fulgent Genetics (United States). SLC34A2 Specificity 100 % Genes 100 %
Comprehensive Pulmonology Panel. By Blueprint Genetics (Finland). SCN4A, SCNN1A, SCNN1B, SFTPA1, SFTPA2, SFTPB, SFTPC, SLC34A2, SLC6A5, SLC7A7, SMPD1, STAT3, TERC, TERT, TINF2, NKX2-1, TSC1, TSC2, ZEB2, HPS4 , (...) View the complete list with 46 more genes Panel complete gene list SCN4A, SCNN1A, SCNN1B, SFTPA1, SFTPA2, SFTPB, SFTPC, SLC34A2, SLC6A5, SLC7A7, SMPD1, STAT3, TERC, TERT, TINF2, NKX2-1, TSC1, TSC2, ZEB2, HPS4, RTEL1, NME8, DNAI2, CFTR, CHAT, CHRNA1, CHRNB1, CHRND, CHRNE, DNAAF2, RSPH3, RSPH9, RSPH4A, COLQ, DNAL1, CSF2RA, CSF2RB, CCDC39, CCDC40, FLCN, ELMOD2, PIH1D3, DKC1, DNAH1, DNAH11, DNAH5, DNAI1, DNAAF1, EDN3, EFEMP2, ABCA3, ELN, FBLN5, FOXF1, GAS8, GLRA1, HPS1, ITGA3, LTBP4, MECP2, NF1, PARN, SERPINA1, PHOX2B, RAPSN, RET Specificity 2 % Genes 100 %
Interstitial Lung Disease Panel. By Blueprint Genetics (Finland). SFTPA1, SFTPA2, SFTPB, SFTPC, SLC34A2, SLC7A7, SMPD1, STAT3, TERC, TERT, TINF2, NKX2-1, TSC1, TSC2, HPS4, RTEL1, CSF2RA, CSF2RB, ELMOD2, DKC1 , (...) View the complete list with 5 more genes Panel complete gene list SFTPA1, SFTPA2, SFTPB, SFTPC, SLC34A2, SLC7A7, SMPD1, STAT3, TERC, TERT, TINF2, NKX2-1, TSC1, TSC2, HPS4, RTEL1, CSF2RA, CSF2RB, ELMOD2, DKC1, ABCA3, HPS1, ITGA3, NF1, PARN Specificity 4 % Genes 100 %
Caris MI TumorSeek 592-Gene NGS Panel. By Caris Life Sciences (United States). BCL6, BCL7A, BCL9, BCR, ROS1, RPL10, RPL22, RPL5, RPN1, RUNX1, BLM, SDC4, SDHB, SDHC, SDHD, BMPR1A, SET, SF3B1, SFPQ, SRSF2 , (...) View the complete list with 559 more genes Panel complete gene list BCL6, BCL7A, BCL9, BCR, ROS1, RPL10, RPL22, RPL5, RPN1, RUNX1, BLM, SDC4, SDHB, SDHC, SDHD, BMPR1A, SET, SF3B1, SFPQ, SRSF2, SRSF3, SH3GL1, STIL, FOXL2, BRAF, BRCA1, BRCA2, SLC34A2, BRD3, SMARCA4, SMARCB1, SMARCE1, ARID1A, KDM5C, SMO, SOX10, SOX2, SPOP, SRC, BTG1, ABI1, BTK, SSX1, SS18, STAG2, STAT3, STAT4, STAT5B, STK11, AURKB, AURKA, BUB1B, SYK, TAF15, TAL1, TAL2, TCEA1, HNF1A, TCF12, TCF3, TCF7L2, TCL1A, TERT, TFE3, TFEB, TFG, TFRC, TGFBR2, NKX2-1, TMPRSS2, TNFAIP3, TNFRSF14, TNFRSF17, FAS, ZNF384, MED12, TOP1, TP53, TPM3, TPM4, TPR, TRIP11, TRRAP, TSC1, TSC2, U2AF1, USP6, KDM6A, VEGFA, VEGFB, VHL, EZR, WAS, NSD2, NSD3, CCN6, WRN, WT1, XPA, XPC, XPO1, YWHAE, ZBTB16, TRIM26, ZMYM2, ZNF217, KAT6A, PATZ1, EML4, CNBP, IKZF1, BCL11A, BCL11B, TLX3, BRD4, FBXO11, TFPT, CTCF, KMT2C, HERPUD1, ASPSCR1, CACNA1D, PRDM16, ARHGEF12, CIC, NSD1, CRLF2, MRTFA, RANBP17, RNF213, CALR, IKBKE, NIN, CARS, RBM15, CASP8, RUNX1T1, CBFA2T3, CBFB, CBL, CBLB, GPHN, NCKIPSD, ZNF331, PICALM, P2RY8, SETBP1, PDE4DIP, SS18L1, CCND1, CCND2, SEPT6, CCND3, CCNE1, CBLC, CRTC1, MLLT10, MAML2, TRIM33, CARD11, SUFU, ACSL6, FBXW7, CDC73, UBR5, CD74, CD79A, CD79B, MLLT11, CLP1, FGFR1OP, FNBP1, ERC1, ARHGAP26, DICER1, SUZ12, POT1, CDH1, CDH11, SPEN, KAT6B, CD274, GOPC, RABEP1, CDK4, CDK6, CDK8, VTI1A, ADGRA2, CDKN1B, AFF4, CDKN2A, CDKN2B, CDKN2C, ARID2, CDX2, EMSY, WIF1, PHF6, ASXL1, CEBPA, SETD2, RNF43, FCRL4, FEV, CNTRL, MSI2, KLHL6, PDCD1LG2, CCDC6, CAMTA1, CREB3L1, FIP1L1, CHEK1, CHIC2, SOCS1, CHN1, CCNB1IP1, SBDS, CANT1, SRGAP3, TRAF7, BRIP1, FANCL, BCOR, CLTC, CLTCL1, TTL, KIAA1549, COPB1, COX6C, THRAP3, ZRSR2, ELL, KEAP1, CREB1, CREBBP, HOOK3, CRKL, ACKR3, CREB3L2, WWTR1, KNL1, CDK12, CSF1R, CSF3R, ZNF521, TENT5C, DOT1L, CTLA4, CTNNA1, CTNNB1, BCORL1, CYLD, ZNF703, TET2, SDHAF2, PALB2, CRTC3, WDCP, CYP2D6, DAXX, AMER1, DDB2, DDIT3, DDR2, FLCN, DDX10, DDX5, DDX6, DEK, CHCHD7, RMI2, GID4, RICTOR, JAZF1, NUP93, TET1, TBL1XR1, SH2B3, MDS2, DNM2, DNMT3A, NUTM1, PBRM1, RPTOR, SPECC1, LRIG3, EBF1, EGFR, EIF4A2, ELF4, ELK4, ELN, EP300, EPHA3, EPHA5, EPHB1, EPS15, ERBB2, ERBB3, ERBB4, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, ERG, ETV1, ETV4, ETV5, ETV6, MECOM, EWSR1, EXT1, EXT2, EZH2, ACSL3, FANCA, FANCC, FANCD2, FANCE, FANCF, FANCG, FGF10, FGF14, FGF19, FGF23, FGF3, FGF4, FGF6, FGFR1, FGFR2, FGFR3, FGFR4, FH, FHIT, FLI1, FLT1, FLT3, FLT4, AKAP9, FOXO1, FOXO3, FOXP1, AKT1, AKT2, AKT3, MTOR, FSTL3, FUBP1, FUS, KDSR, GAS7, GATA1, GATA2, GATA3, ALK, GMPS, GNA11, GNA13, GNAQ, GNAS, GOLGA5, GPC3, LGR5, GRIN2A, GSK3B, H3F3A, H3F3B, HIST1H3B, HIST1H4I, HEY1, HGF, HIP1, HLF, MNX1, HMGA2, HMGA1, FOXA1, HNRNPA2B1, TLX1, HOXA11, HOXA13, HOXA9, HOXC11, HOXC13, HOXD11, HOXD13, HRAS, HSP90AA1, HSP90AB1, IDH1, IDH2, IGF1R, APC, BIRC3, IL2, IL21R, IL6ST, IL7R, INHBA, IRF4, IRS2, ITK, JAK1, JAK2, JAK3, JUN, KCNJ5, KDR, KIF5B, KIT, KLF4, KLK2, KRAS, MAFB, AR, ARAF, KTN1, AFF3, LASP1, LCK, LCP1, LHFPL6, LIFR, ARFRP1, LMO1, LMO2, LPP, LRP1B, LYL1, SMAD2, SMAD4, MAF, MALT1, MAP2K1, MAP2K2, MAP2K4, MAP3K1, RHOH, MAX, MCL1, MDM2, MDM4, MEF2B, ARNT, MEN1, MET, CIITA, MITF, MLF1, MLH1, KMT2D, MLLT1, AFF1, MLLT3, AFDN, MLLT6, FOXO4, MN1, MPL, MRE11, SEPT9, MSH2, MSH6, MSN, MTCP1, MUC1, MUTYH, MYB, MYC, MYCL, MYCN, MYD88, MYH11, MYH9, ABL1, NACA, NBN, NCOA1, NCOA2, NCOA4, NDRG1, ABL2, NF1, NF2, NFE2L2, NFIB, NFKB2, NFKBIA, ATF1, NONO, CNOT3, NOTCH1, NOTCH2, NPM1, ATIC, ATM, NR4A3, NRAS, ATP1A1, NT5C2, NTRK1, NTRK2, NTRK3, NUMA1, NUP214, NUP98, ATP2B3, PAFAH1B2, PAK3, PAX3, PAX5, PAX7, PAX8, PBX1, SLC45A3, PCM1, PCSK7, PDCD1, PDGFB, PDGFRA, PDGFRB, PDK1, ATR, PER1, ATRX, PIK3CA, PIK3CG, PIK3R1, PIK3R2, PIM1, AXIN1, PLAG1, AXL, PML, PMS1, PMS2, PRRX1, PHOX2B, SEPT5, POLE, POU2AF1, POU5F1, PPARG, PPP2R1A, PRCC, PRDM1, PRF1, PRKAR1A, OLIG2, PRKDC, BAP1, BARD1, PSIP1, PTCH1, PTEN, PTPN11, PTPRC, RAC1, RAD21, RAD50, RAD51, RAD51B, RAF1, RALGDS, RAP1GDS1, RARA, RB1, KDM5A, BCL10, BCL2L11, RECQL4, BCL2L2, REL, RET, TRIM27, BCL3 Specificity 1 % Genes 100 %