TMEM173 gene related symptoms and diseases
All the information presented here about the TMEM173 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,ORPHANET,OMIM,NCBIGENE, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to TMEM173 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Growth delay | Uncommon - Between 30% and 50% cases |
| Leukopenia | Uncommon - Between 30% and 50% cases |
| Malar rash | Uncommon - Between 30% and 50% cases |
| Follicular hyperplasia | Uncommon - Between 30% and 50% cases |
| Low-grade fever | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with TMEM173 gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Antinuclear antibody positivity
- Myositis
- Raynaud phenomenon
- Pustule
- Thrombocytosis
- Elevated erythrocyte sedimentation rate
- Interstitial pulmonary abnormality
- Increased antibody level in blood
And 20 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to TMEM173 gene
Here you will find a list of rare diseases related to the TMEM173. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
STING-ASSOCIATED VASCULOPATHY WITH ONSET IN INFANCY
Alternate names
STING-ASSOCIATED VASCULOPATHY WITH ONSET IN INFANCY Is also known as savi
Description
STING-associated vasculopathy with onset in infancy (SAVI) is a rare, genetic autoinflammatory disorder, type I interferonopathy due to constitutive STING (STimulator of INterferon Genes) activation, characterized by neonatal or infantile onset systemic inflammation and small vessel vasculopathy resulting in severe skin, pulmonary and joint lesions. Patients present with intermittent low-grade fever, recurrent cough and failure to thrive, in association with progressive interstitial lung disease, polyarthritis and violaceous scaling lesions on fingers, toes, nose, cheeks, and ears (which are exacerbated by cold exposure) that often progress to chronic acral ulceration, necrosis and autoamputation.
Most common symptoms of STING-ASSOCIATED VASCULOPATHY WITH ONSET IN INFANCY
- Growth delay
- Failure to thrive
- Anemia
- Fever
- Recurrent respiratory infections
More info about STING-ASSOCIATED VASCULOPATHY WITH ONSET IN INFANCY
FAMILIAL CHILBLAIN LUPUS
Search interest in TMEM173
Potential gene panels for TMEM173 gene
TMEM173 Sequencing Panel
United States.
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center
This panel specifically test the TMEM173 gene.
More info about this panel United States.
TMEM173 Panel
Germany.
By Institute for Human Genetics University Clinic Freiburg
This panel specifically test the TMEM173 gene.
More info about this panel Germany.
Vasculopathy, infantile-onset, TMEM173/STING related Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the TMEM173 gene.
More info about this panel Germany.
Invitae Monogenic Autoimmunity Panel Panel
United States.
By Invitae Invitae Monogenic Autoimmunity Panel that also includes the following genes: RMRP SH2D1A SLC7A7 BTK STAT1 STAT3 STAT5B STIM1 STX11 STXBP2
More info about this panel United States.
Invitae Primary Immunodeficiency Panel Panel
United States.
By Invitae Invitae Primary Immunodeficiency Panel that also includes the following genes: RMRP RORC SEMA3E SH2D1A SH3BP2 SLC7A7 SMARCAL1 BTK STAT1 STAT2
More info about this panel United States.
TMEM173 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the TMEM173 gene.
More info about this panel United States.
Primary Immunodeficiency Panel Panel
Finland.
By Blueprint Genetics Primary Immunodeficiency Panel that also includes the following genes: RMRP RORC CFB BLM SH2D1A SLC7A7 SMARCAL1 SMARCD2 SRP72 BTK
More info about this panel Finland.
Autoinflammatory Syndrome Panel Panel
Finland.
By Blueprint Genetics Autoinflammatory Syndrome Panel that also includes the following genes: TNFAIP3 TNFRSF1A TREX1 ACP5 NLRP1 LPIN2 IL36RN SAMHD1 NLRP3 NLRC4
More info about this panel Finland.
Tempus xT assay Panel
United States.
By Tempus Labs, Inc. Tempus xT assay that also includes the following genes: BCL6 RIT1 BCL7A BCR ROS1 RPL5 RPS15 RPS6KB1 RUNX1 RXRA
More info about this panel United States.
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