Pulmonary alveolar microlithiasis

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 9
OrphanetNr: 60025
OMIM Id: 265100
ICD-10: J84.0
UMLs: C0155912
MeSH:
MedDRA: 10037315
Snomed: 87153008

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
Not applicable
[Orphanet]
Age of onset: All ages
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Rare genetic respiratory disease
 -Rare genetic disease
Rare respiratory disease
 -Rare respiratory disease

Symptom Information: Sort by abundance 

1
(HPO:0006514) Intraalveolar nodular calcifications 1 / 7739
2
(HPO:0002111) Restrictive deficit on pulmonary function testing 25 / 7739
3
(HPO:0006520) Progressive pulmonary function impairment 1 / 7739
4
(HPO:0003677) Slow progression 134 / 7739
5
(OMIM) Progressive fibrosis may occur 1 / 7739
6
(OMIM) Pulmonary function tests show restrictive deficit 1 / 7739
7
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
8
(HPO:0003674) Onset 32 / 7739
9
(OMIM) Diffuse, bilateral medial and basal lung involvement 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) 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 ...
Clinical Description OMIM Pulmonary alveolar microlithiasis is characterized by multiple minute calcifications located in the alveoli which produce a typical radiographic appearance.

Castellana et al. (2002) reviewed the over 300 individuals reported with pulmonary alveolar microlithiasis. The age at ...

Molecular genetics OMIM Using homozygosity mapping in the family reported by Senyigit et al. (2001), Corut et al. (2006) mapped a locus for pulmonary alveolar microlithiasis to 4p15.31-p15.2. By a candidate gene approach they chose to investigate SLC34A2, which encodes the ...
Population genetics OMIM Ucan et al. (1993) stated that only 173 cases of this disorder had been reported worldwide, and that the condition is unusually common in Turkey. They reported 52 Turkish cases, 49 of which had previously been described only ...