SLC34A2 gene related symptoms and diseases
All the information presented here about the SLC34A2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,HGNC,NCBIGENE,ORPHANET, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to SLC34A2 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Pain | Uncommon - Between 30% and 50% cases |
| Restrictive deficit on pulmonary function testing | Uncommon - Between 30% and 50% cases |
| Testicular microlithiasis | Uncommon - Between 30% and 50% cases |
| Testicular neoplasm | Uncommon - Between 30% and 50% cases |
| Infertility | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with SLC34A2 gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Neoplasm
- Intraalveolar nodular calcifications
- Progressive pulmonary function impairment
- Multiple exostoses
- Cor pulmonale
- Respiratory distress
- Exostoses
- Interstitial pulmonary abnormality
And 6 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to SLC34A2 gene
Here you will find a list of rare diseases related to the SLC34A2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
PULMONARY ALVEOLAR MICROLITHIASIS
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).
Most common symptoms of PULMONARY ALVEOLAR MICROLITHIASIS
- Pain
- Respiratory distress
- Respiratory failure
- Dyspnea
- Cough
More info about PULMONARY ALVEOLAR MICROLITHIASIS
TESTICULAR MICROLITHIASIS
Description
Testicular microlithiasis, the deposition of calcium phosphate microliths within the seminiferous tubules, has a population prevalence of 0.6 to 9% (Kim et al., 2003). Middleton et al. (2002) found that it was associated with a majority of primary testicular malignancies. Miller and Sidhu (2002) found that it was present in 1% of male idiopathic infertility cases.
Most common symptoms of TESTICULAR MICROLITHIASIS
- Neoplasm
- Infertility
- Testicular neoplasm
- Testicular microlithiasis
- Germ cell neoplasia
More info about TESTICULAR MICROLITHIASIS
Search interest in SLC34A2
Potential gene panels for SLC34A2 gene
Interstitial Lung Disease Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Interstitial Lung Disease Sequencing Panel with CNV Detection that also includes the following genes: SFTPA2 SFTPB SFTPC SLC34A2 SLC7A7 SMPD1 STAT3 TERC TERT TINF2
More info about this panel United States.
SLC34A2 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the SLC34A2 gene.
More info about this panel United States.
Comprehensive Pulmonology Panel Panel
Finland.
By Blueprint Genetics Comprehensive Pulmonology Panel that also includes the following genes: SCN4A SCNN1A SCNN1B SFTPA1 SFTPA2 SFTPB SFTPC SLC34A2 SLC6A5 SLC7A7
More info about this panel Finland.
Interstitial Lung Disease Panel Panel
Finland.
By Blueprint Genetics Interstitial Lung Disease Panel that also includes the following genes: SFTPA1 SFTPA2 SFTPB SFTPC SLC34A2 SLC7A7 SMPD1 STAT3 TERC TERT
More info about this panel Finland.
Caris MI TumorSeek 592-Gene NGS Panel Panel
United States.
By Caris Life Sciences Caris MI TumorSeek 592-Gene NGS Panel that also includes the following genes: BCL6 BCL7A BCL9 BCR ROS1 RPL10 RPL22 RPL5 RPN1 RUNX1
More info about this panel United States.
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