SP110 gene related symptoms and diseases
All the information presented here about the SP110 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,NCBIGENE,HGNC,ORPHANET, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to SP110 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Immunodeficiency | Very Common - Between 80% and 100% cases |
| Pain | Uncommon - Between 30% and 50% cases |
| Fever | Uncommon - Between 30% and 50% cases |
| Fatigue | Uncommon - Between 30% and 50% cases |
| Weight loss | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with SP110 gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Cough
- Chest pain
- Hemoptysis
- Night sweats
- Microcephaly
- Abnormality of the liver
- Decreased antibody level in blood
- IgG deficiency
And 3 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to SP110 gene
Here you will find a list of rare diseases related to the SP110. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
MYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO
Description
Mycobacterium tuberculosis latently infects approximately one-third of humanity and is comparable only to human immunodeficiency virus (HIV; see {609423}) as a leading infectious cause of mortality worldwide. Obstacles for controlling TB infection include lengthy treatment regimens of 6 to 9 months, drug resistance, lack of a highly efficacious vaccine, and incomplete understanding of the factors that control infectivity and disease progression. Although only 10% of individuals infected with M. tuberculosis develop active disease, the immune responses associated with TB susceptibility or resistance are not known. In addition, it is not known why some individuals have disseminated TB that spreads to the meninges and central nervous system, while most people have localized disease in the lungs. A number of studies suggest that host genetic factors influence susceptibility and resistance to TB (review by Berrington and Hawn, 2007).
Most common symptoms of MYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO
- Pain
- Fever
- Fatigue
- Immunodeficiency
- Weight loss
More info about MYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO
HEPATIC VENO-OCCLUSIVE DISEASE-IMMUNODEFICIENCY SYNDROME
Alternate names
HEPATIC VENO-OCCLUSIVE DISEASE-IMMUNODEFICIENCY SYNDROME Is also known as vodi syndrome
Description
Hepatic veno-occlusive disease-immunodeficiency syndrome is characterized by the association of severe hypogammaglobulinemia, combined T and B cell immunodeficiency, absent lymph node germinal centers, absent tissue plasma cells and hepatic veno-occlusive disease.
Most common symptoms of HEPATIC VENO-OCCLUSIVE DISEASE-IMMUNODEFICIENCY SYNDROME
- Microcephaly
- Immunodeficiency
- Abnormality of the liver
- Decreased antibody level in blood
- IgG deficiency
More info about HEPATIC VENO-OCCLUSIVE DISEASE-IMMUNODEFICIENCY SYNDROME
Search interest in SP110
Potential gene panels for SP110 gene
Syndromes with immunodeficiency Panel Panel
Germany.
By CeGaT GmbH Syndromes with immunodeficiency Panel that also includes the following genes: RMRP RUNX2 BLM SMARCAL1 STAT3 TBX1 TERC TERT TINF2 TREX1
More info about this panel Germany.
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.
Invitae Syndromic Combined Immunodeficiency (CID) Panel Panel
United States.
By Invitae Invitae Syndromic Combined Immunodeficiency (CID) Panel that also includes the following genes: RMRP SEMA3E SMARCAL1 STAT3 STAT5B STIM1 TBX1 TCN2 TERC TERT
More info about this panel United States.
SP110 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the SP110 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.
Severe Combined Immunodeficiency Panel Panel
Finland.
By Blueprint Genetics Severe Combined Immunodeficiency Panel that also includes the following genes: RMRP BLM SH2D1A SMARCAL1 STAT1 STAT2 STAT3 STAT5B STIM1 STK4
More info about this panel Finland.
Tempus xO assay Panel
United States.
By Tempus Labs, Inc. Tempus xO assay that also includes the following genes: BCL6 RHEB RIPK1 RIPK2 RIPK3 RIT1 BCL7A BCL9 BCR ROBO2
More info about this panel United States.
Hepatic Veno-Occlusive Disease with Immunodeficiency: gene sequencing Panel
Canada.
By CEN4GEN Institute for Genomics and Molecular Diagnostics
This panel specifically test the SP110 gene.
More info about this panel Canada.
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