Pulmonary alveolar microlithiasis

Preferred Label : Pulmonary alveolar microlithiasis;

Symbol : PULAM;

CISMeF acronym : PULAM;

Type : Phenotype, molecular basis known;

Description : Pulmonary alveolar microlithiasis is a rare disease characterized by the deposition of calcium phosphate microliths throughout the lungs (Corut et al., 2006). 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.;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the solute carrier family 34 (sodium/phosphate cotransporter), member 2 gene (SLC34A2, 604217.0001);

Prefixed ID : #265100;

Details

Origin ID

265100;

UMLS CUI

C0155912;

Automatic exact mappings (from CISMeF team)
- Pulmonary alveolar microlithiasis [ICD-11 Category]
- SLC34A2 wt Allele [NCIt concept]
Currated CISMeF NLP mapping
- Pulmonary alveolar microlithiasis [PASCAL descriptor]
- Pulmonary alveolar microlithiasis [MedDRA Preferred Term]
- Pulmonary alveolar microlithiasis [ORDO Disease]
- Pulmonary alveolar microlithiasis [ACR pathology]
- Pulmonary alveolar microlithiasis [ICD-9 code]
- Pulmonary alveolar microlithiasis (disorder) [SNOMED CT concept]
- pulmonary alveolar microlithiasis [DO Concept]
- pulmonary alveolar microlithiasis [Disease (Nov.)]
- pulmonary alveolar microlithiasis [Radlex concept]
- pulmonary alveolar microlithiasis [SNOMED Notion]
- pulmonary alveolar microlithiasis [MeSH concept]
- pulmonary alveolar microlithiasis [MeSH Supplementary Concept]
DO Cross reference
- pulmonary alveolar microlithiasis [DO Concept]
Genes related to phenotype
- Solute carrier family 34 (sodium/phosphate cotransporter), member 2 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Diffuse [HPO term]
- Intraalveolar nodular calcifications [HPO term]
- Onset [HPO term]
- Progressive pulmonary function impairment [HPO term]
- Restrictive deficit on pulmonary function testing [HPO term]
- Restrictive ventilatory defect [HPO term]
- Slowly progressive [HPO term]
- Variable age at onset [HPO term]
ORDO concept(s)
- Pulmonary alveolar microlithiasis [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Pulmonary alveolar microlithiasis [ORDO Disease]
- Pulmonary alveolar microlithiasis [ICD-9 code]
- Pulmonary alveolar microlithiasis [MedDRA Preferred Term]
- Pulmonary alveolar microlithiasis [ACR pathology]
- Pulmonary alveolar microlithiasis [PASCAL descriptor]
- Pulmonary alveolar microlithiasis (disorder) [SNOMED CT concept]
- pulmonary alveolar microlithiasis [MeSH Supplementary Concept]
- pulmonary alveolar microlithiasis [SNOMED Notion]
- pulmonary alveolar microlithiasis [MeSH concept]
- pulmonary alveolar microlithiasis [Radlex concept]
- pulmonary alveolar microlithiasis [DO Concept]
- pulmonary alveolar microlithiasis [Disease (Nov.)]

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