eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| pulmonary alveolar microlithiasis | ||||
| Disease ID | 325 |
|---|---|
| Disease | pulmonary alveolar microlithiasis |
| Definition | Pulmonary alveolar microlithiasis (PAM) is a rare, inherited disorder of lung phosphate balance that is associated with small stone formation in the airspaces of the lung. Mutations in the gene SLC34A2[1][2] result in loss of a key sodium, phosphate co-transporter (called Npt2b), known to be expressed in distal airway epithelial alveolar type II cells, as well as in the mammary gland, and to a lesser extent in intestine, kidney, skin, prostate and testes. As the disease progresses, the lung fields become progressively more dense (white) on the chest xray, and low oxygen level, lung inflammation and fibrosis, elevated pressures in the lung blood vessels, and respiratory failure ensue, usually in middle age. The clinical course of PAM can be highly variable, with some patients remaining asymptomatic for decades, and others progressing more rapidly. There is no effective treatment, and the mechanisms of stone formation, inflammation and scarring are not known. - Wikipedia Reference: https://en.wikipedia.org/wiki/pulmonary alveolar microlithiasis |
| Synonym | alveolar microlithiasis alveolar microlithiasis pulmonary lung, alveolar microlithiasis pam - pulmonary alveolar microlithiasis pulm alveolar microlith pulmonary alveolar microlithiasis (disorder) |
| Orphanet | |
| OMIM | |
| DOID | |
| ICD10 | |
| UMLS | C0155912 |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:6) |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:6) |
| Locus | Symbol | Locus(Total Locus:1) SLC34A2 | 4p15.2 |
| Disease ID | 325 |
|---|---|
| Disease | pulmonary alveolar microlithiasis |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:3) HP:0006520 | Progressive pulmonary function impairment HP:0006514 | Intraalveolar nodular calcifications HP:0002111 | Restrictive respiratory insufficiency' |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:5) |
| Disease ID | 325 |
|---|---|
| Disease | pulmonary alveolar microlithiasis |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:4) |
| Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:3) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs137853141 | NA | 10568 | SLC34A2 | umls:C0155912 | CLINVAR | NA | 0.481628651 | NA | SLC34A2 | 4 | 25662818 | C | T |
| rs137853142 | NA | 10568 | SLC34A2 | umls:C0155912 | CLINVAR | NA | 0.481628651 | NA | SLC34A2 | 4 | 25664267 | G | A,C |
| rs796065044 | NA | 10568 | SLC34A2 | umls:C0155912 | CLINVAR | NA | 0.481628651 | NA | SLC34A2 | 4 | 25662804 | ACCTACCCACTCT | - |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:1) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0002111 | Restrictive respiratory insufficiency | MP:0002133 | abnormal respiratory system physiology | any functional anomaly of the pulmonary system; inability or reduced ability to intake and exchange oxygen and carbon dioxide with the environment |
Mapped by homologous gene(Total Items:3) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0002111 | Restrictive respiratory insufficiency | MP:0013504 | increased embryonic tissue cell apoptosis | increase in the timing or the number of cells in embryonic tissue undergoing programmed cell death |
| HP:0006514 | Intraalveolar nodular calcifications | MP:0011228 | abnormal vitamin D level | any anomaly in the concentration of vitamin D, any of a group of related, fat-soluble compounds that are derived from delta-5,7 steroids and play a central role in calcium metabolism; specific forms of vitamin D include calciferol (ergocalciferol; vitamin |
| HP:0006520 | Progressive pulmonary function impairment | MP:0011228 | abnormal vitamin D level | any anomaly in the concentration of vitamin D, any of a group of related, fat-soluble compounds that are derived from delta-5,7 steroids and play a central role in calcium metabolism; specific forms of vitamin D include calciferol (ergocalciferol; vitamin |
| Disease ID | 325 |
|---|---|
| Disease | pulmonary alveolar microlithiasis |
| Case | (Waiting for update.) |