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.

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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

SOURCES: ORPHANET OMIM

FAMILIAL CHILBLAIN LUPUS



More info about FAMILIAL CHILBLAIN LUPUS

SOURCES: ORPHANET


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

TMEM173 Panel

Germany.

By Institute for Human Genetics University Clinic Freiburg

This panel specifically test the TMEM173 gene.

More info about this panel

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

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

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

TMEM173 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the TMEM173 gene.

More info about this panel

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

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

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


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