{"Name":"PULMONARY ALVEOLAR MICROLITHIASIS","DiseaseID__c":"GARD:0011894","id":11894,"encodedName":"pulmonary-alveolar-microlithiasis","IsDeleted":false,"Disease_Name_Full__c":"PULMONARY ALVEOLAR MICROLITHIASIS","Xref_IDs__c":"87153008; C0155912; C562405; DOID:12117; J84.02; MEDGEN:56374; MONDO:0009928; OMIM:265100; ORPHA:60025","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":3,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":1,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":1,"No_of_Disease_Descriptions__c":5,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0009928","Disease_Description__c":"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 microlithiasismay also develop calcium phosphate deposits in other organs and tissue of the body. Though the course of the disease can be variable,many casesslowly 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.","GARD_Name__c":"PULMONARY ALVEOLAR MICROLITHIASIS","GARD_Synonym__c":"alveolar microlithiasis; pam - pulmonary alveolar microlithiasis","Curated_Disease_Description_Source__c":"GARD:0011894","Curated_Disease_Description__c":"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.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"at any time in life","SourceID__c":"ORPHA:60025","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0009928","ORPHANET_ID__c":"ORPHA:60025","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Microlitiasis alvéolo-pulmonar","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"microlitiasis alvéolo-pulmonar","Spanish_GARD_Synonym__c":null,"Category_Linearization__c":"ORPHA:97955","icd10_id__c":null,"mesh_id__c":null,"omim_id__c":null,"snomed_id__c":null,"umls_id__c":null,"GARD_Disease__c":[{"Curated_Disease_Description__c":"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.","Curated_Disease_Description_Source__c":"GARD:0011894","GARD_Synonym__c":"alveolar microlithiasis; pam - pulmonary alveolar microlithiasis","Name":"PULMONARY ALVEOLAR MICROLITHIASIS","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Children's Interstitial Lung Disease Foundation","Website__c":"https://child-foundation.org/"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Genetics","Tag_Category__c":"Cause;Disease Category;Specialist","category_description":"Genetic diseases affect the DNA, or genetic instructions, which directs how tissues, organs, and body systems function.","curated_tag_name":"Genetic diseases"},{"Tag_Name__c":"Pulmonology","Tag_Category__c":"Disease Category;Specialist","category_description":"Respiratory diseases affect the nose, mouth, throat, voice box, windpipe, lungs, or blood vessels.","curated_tag_name":"Respiratory diseases"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"All ages","Provided_By__c":"ORPHA:60025"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0155912"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0011894","Source__c":"RareSource"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0155912","Source__c":"C0155912","Xref__c":"C0155912"},{"URL__c":"https://www.omim.org/entry/265100","Source__c":"C0155912; MONDO:0009928; ORPHA:60025","Xref__c":"OMIM:265100"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=56374","Source__c":"C0155912","Xref__c":"MEDGEN:56374"},{"URL__c":"https://www.orpha.net/en/disease/detail/60025","Source__c":"C0155912; MONDO:0009928; ORPHA:60025","Xref__c":"ORPHA:60025"},{"URL__c":"http://purl.bioontology.org/ontology/ICD10CM/J84.02","Source__c":"MONDO:0009928","Xref__c":"J84.02"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C562405","Source__c":"MONDO:0009928","Xref__c":"C562405"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=87153008","Source__c":"C0155912; MONDO:0009928","Xref__c":"87153008"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A12117","Source__c":"MONDO:0009928","Xref__c":"DOID:12117"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0009928","Source__c":"GARD:0011894","Xref__c":"MONDO:0009928"},{"URL__c":"https://medlineplus.gov/genetics/condition/pulmonary-alveolar-microlithiasis","Source__c":"GARD:0011894","Xref__c":"https://medlineplus.gov/genetics/condition/pulmonary-alveolar-microlithiasis"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"SLC34A2","GHR_URL__c":"https://medlineplus.gov/genetics/gene/slc34a2","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:60025","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the chest.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100749","HPO_Synonym__c":"Chest pain; 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That is, there is diminution of strength with repetitive muscle actions.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003473","HPO_Synonym__c":"Fatigable weakness of limb muscles; Generalized muscle weakness due to defect at the neuromuscular junction; Myasthenia; Myasthenic weakness; Proximal muscle weakness due to defect at the neuromuscular junction","HPO_Name__c":"Fatigable weakness","Feature_System__c":"Nervous System; Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:60025","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Calcification, that is, pathological deposition of calcium salts in the aorta.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004963","HPO_Name__c":"Calcification of the aorta","Feature_System__c":"Musculoskeletal System; Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:60025","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Replacement of normal lung tissues by fibroblasts and collagen.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002206","HPO_Synonym__c":"Pulmonary scarring","HPO_Name__c":"Pulmonary fibrosis","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:60025","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormal accumulation of interstitial fluid in the soft tissues of the limbs.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012398","HPO_Name__c":"Peripheral edema","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:60025","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Abnormally increased size of the liver.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002240","HPO_Synonym__c":"Enlarged liver","HPO_Name__c":"Hepatomegaly","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:60025","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Reduction of total body weight.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001824","HPO_Synonym__c":"Loss of weight","HPO_Name__c":"Weight loss","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:60025","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Point-shaped (punctate) calcifications affecting the carpal bones.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004241","HPO_Synonym__c":"Punctate calcifications of carpals","HPO_Name__c":"Stippled calcification in carpal bones","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:60025","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Persistent abnormal dilatation of the bronchi owing to localized and irreversible destruction and widening of the large airways.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002110","HPO_Synonym__c":"Permanent enlargement of the airways of the lungs","HPO_Name__c":"Bronchiectasis","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:60025","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Increase in thickness of the subpleural interstitium.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025178","HPO_Synonym__c":"Subpleural scarring","HPO_Name__c":"Subpleural interstitial thickening","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:60025","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"The presence of blood in the urine. Hematuria may be gross hematuria (visible to the naked eye) or microscopic hematuria (detected by dipstick or microscopic examination of the urine).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000790","HPO_Synonym__c":"Blood in urine","HPO_Name__c":"Hematuria","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:60025","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Coughing up (expectoration) of blood or blood-streaked sputum from the larynx, trachea, bronchi, or lungs.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002105","HPO_Synonym__c":"Coughing up blood","HPO_Name__c":"Hemoptysis","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:60025","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A functional defect characterized by reduced total lung capacity (TLC) not associated with abnormalities of expiratory airflow or airway resistance. Spirometrically, a restrictive defect is defined as FEV1 (forced expiratory volume in 1 second) and FVC (forced vital capacity) less than 80 per cent. Restrictive lung disease may be caused by alterations in lung parenchyma or because of a disease of the pleura, chest wall, or neuromuscular apparatus.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002091","HPO_Synonym__c":"Restrictive deficit on pulmonary function testing; Restrictive deficit on pulmonary function tests; Restrictive respiratory disease; Restrictive respiratory insufficiency; Restrictive respiratory syndrome; Spirometric restriction; Stiff lung or chest wall causing decreased lung volume","HPO_Name__c":"Restrictive ventilatory defect","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Procedure_PFT"}},{"Provided_By__c":"ORPHA:60025","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An increase in the thickness of the pleura, generally related to scarring of the pleural tissue.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031944","HPO_Synonym__c":"Pleural incrassation","HPO_Name__c":"Pleural thickening","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:60025","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"A severe form of respiratory insufficiency characterized by inadequate gas exchange such that the levels of oxygen or carbon dioxide cannot be maintained within normal limits.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002878","HPO_Synonym__c":"Respiratory failure","HPO_Name__c":"Respiratory failure","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:60025","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"On chest radiographs, ground-glass opacity appears as an area of hazy increased lung opacity, usually extensive, within which margins of pulmonary vessels may be indistinct. On CT scans, it appears as hazy increased opacity of lung, with preservation of bronchial and vascular margins. It is caused by partial filling of airspaces, interstitial thickening (due to fluid, cells, and/or fibrosis), partial collapse of alveoli, increased capillary blood volume, or a combination of these, the common factor being the partial displacement of air. Ground-glass opacity is less opaque than consolidation, in which bronchovascular margins are obscured.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025179","HPO_Synonym__c":"GGO; Ground glass opacities","HPO_Name__c":"Ground-glass opacification","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Imaging_CT"}},{"Provided_By__c":"ORPHA:60025","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Deposition of calcium salts in a tissue or location in which calcification does not normally occur.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010766","HPO_Name__c":"Ectopic calcification","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:60025","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Difficult or labored breathing. Dyspnea is a subjective feeling only the patient can rate, e.g., on a Borg scale.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002094","HPO_Synonym__c":"Abnormal breathing; Breathing difficulty; Difficult to breathe; Difficulty breathing; Shortness of breath; Trouble breathing","HPO_Name__c":"Dyspnea","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:60025","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Presence of thickening of the interlobular septa of the lungs as seen on a CT scan.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030879","HPO_Synonym__c":"Interlobular lines (pulmonary CT finding); Peripheral lines (pulmonary CT finding); Septal lines (pulmonary CT finding); Septal thickening (pulmonary CT finding); Short lines (pumonary CT finding)","HPO_Name__c":"Interlobular septal thickening","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Imaging_CT"}},{"Provided_By__c":"ORPHA:60025","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A cough that does not produce phlegm or mucus.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031246","HPO_Synonym__c":"Dry cough; Dry coughing","HPO_Name__c":"Nonproductive cough","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:60025","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A subjective feeling of tiredness characterized by a lack of energy and motivation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012378","HPO_Synonym__c":"Fatigue; Tired; Tiredness","HPO_Name__c":"Fatigue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:60025","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Pulmonary vascular resistance (PVR) more than 3 wood units, as defined by the current definition of pulmonary hypertension. 95% of individuals have a PVR of less than 2.4 wood units.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005317","HPO_Name__c":"Increased pulmonary vascular resistance","Feature_System__c":"Cardiovascular System; Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:60025","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002113","HPO_Synonym__c":"Lung infiltrates; Pulmonic infiltration","HPO_Name__c":"Pulmonary infiltrates","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Imaging_CT"}},{"Provided_By__c":"ORPHA:60025","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"An infection of the upper or lower respiratory tract.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011947","HPO_Synonym__c":"Respiratory infection; Respiratory tract infection","HPO_Name__c":"Respiratory tract infection","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:60025","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002093","HPO_Synonym__c":"Respiratory impairment","HPO_Name__c":"Respiratory insufficiency","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:60025","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Deposition of calcium salts in gonadal tissue.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008703","HPO_Name__c":"Gonadal calcification","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:60025","HPO_Frequency__c":"Excluded (0%)","Feature__r":{"HPO_Description__c":"Any deviation from the normal concentration of calcium in the blood circulation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004363","HPO_Synonym__c":"Abnormal blood calcium concentration; Abnormal blood calcium levels; Abnormal circulating Ca concentration; Abnormal circulating Ca2+ concentration","HPO_Name__c":"Abnormal circulating calcium concentration","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:60025","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"The presence of calcium-containing calculi (stones) in the kidneys.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004724","HPO_Synonym__c":"Ca kidney stone; Ca nephrolithiasis; Ca2+ kidney stone; Ca2+ nephrolithiasis; Calcium kidney stone","HPO_Name__c":"Calcium nephrolithiasis","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Pulmonology"],"Specialist":["Genetics","Pulmonology","Pediatrics"]},"synonyms":["alveolar microlithiasis"," pam - pulmonary alveolar microlithiasis"]}