SARS2 gene related symptoms and diseases
All the information presented here about the SARS2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,HGNC,ORPHANET,NCBIGENE, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to SARS2 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Global developmental delay | Very Common - Between 80% and 100% cases |
| Leukopenia | Very Common - Between 80% and 100% cases |
| Type 2 muscle fiber atrophy | Very Common - Between 80% and 100% cases |
| Hyperechogenic kidneys | Very Common - Between 80% and 100% cases |
| Metabolic alkalosis | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with SARS2 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Alkalosis
- Renal salt wasting
- Hypomagnesemia
- Hyperuricemia
- Polyuria
- Hyponatremia
- Chronic kidney disease
- Ventricular hypertrophy
And 13 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to SARS2 gene
Here you will find a list of rare diseases related to the SARS2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
HYPERURICEMIA-PULMONARY HYPERTENSION-RENAL FAILURE-ALKALOSIS SYNDROME
Alternate names
HYPERURICEMIA-PULMONARY HYPERTENSION-RENAL FAILURE-ALKALOSIS SYNDROME Is also known as hupra syndrome
Description
Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome is a rare, genetic, mitochondrial disease characterized by early-onset progressive renal failure, manifesting with hyperuricemia, hyponatremia, hypomagnesemia, hypochloremic metabolic alkalosis, elevated BUN and polyuria, associated with systemic manifestations which include pulmonary hypertension, failure to thrive, global developmental delay, hypotonia and ventricular hypertrophy. Additional features include prematurity, elevated serum lactate, diabetes mellitus and, in some, pancytopenia.
Most common symptoms of HYPERURICEMIA-PULMONARY HYPERTENSION-RENAL FAILURE-ALKALOSIS SYNDROME
- Global developmental delay
- Generalized hypotonia
- Failure to thrive
- Anemia
- Feeding difficulties
More info about HYPERURICEMIA-PULMONARY HYPERTENSION-RENAL FAILURE-ALKALOSIS SYNDROME
Search interest in SARS2
Potential gene panels for SARS2 gene
MitoMet®Plus aCGH Analysis Panel
United States.
By Baylor Miraca Genetics Laboratories MitoMet®Plus aCGH Analysis that also includes the following genes: RGS9 RHO GRK1 RLBP1 RNASEL BCS1L RP1 RP2 RP9 RPE65
More info about this panel United States.
SARS2 Sequence Analysis Panel
United States.
By Baylor Miraca Genetics Laboratories
This panel specifically test the SARS2 gene.
More info about this panel United States.
SARS2 Deletion/Duplication Analysis Panel
United States.
By Baylor Miraca Genetics Laboratories
This panel specifically test the SARS2 gene.
More info about this panel United States.
SARS2 Sequence Analysis (Prenatal Diagnosis) Panel
United States.
By Baylor Miraca Genetics Laboratories
This panel specifically test the SARS2 gene.
More info about this panel United States.
SARS2 Comprehensive - Sequence & Deletion/Duplication Analysis Panel
United States.
By Baylor Miraca Genetics Laboratories
This panel specifically test the SARS2 gene.
More info about this panel United States.
Comprehensive Mitochondrial Metabolic Panel Panel
United States.
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Comprehensive Mitochondrial Metabolic Panel that also includes the following genes: BCS1L SCO1 SCO2 SDHB SDHC SDHD SLC22A5 SLC25A13 SLC25A15 SLC25A3
More info about this panel United States.
Hypomagnesemia (NGS panel for 17 genes) Panel
Portugal.
By CGC Genetics Hypomagnesemia (NGS panel for 17 genes) that also includes the following genes: CNNM2 SLC12A3 HNF1B CASR BSND SARS2 TRPM6 CLCNKB CLDN16 CLDN19
More info about this panel Portugal.
Hypomagnesemia (NGS panel for 17 genes) Panel
Portugal.
By CGC Genetics Hypomagnesemia (NGS panel for 17 genes) that also includes the following genes: CNNM2 SLC12A3 HNF1B CASR BSND SARS2 TRPM6 CLCNKB CLDN16 CLDN19
More info about this panel Portugal.
Hypomagnesemia Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Hypomagnesemia Sequencing Panel with CNV Detection that also includes the following genes: CNNM2 SLC12A3 HNF1B CASR BSND SARS2 TRPM6 CLDN16 CLDN19 FAM111A
More info about this panel United States.
Mitochondrial Hypomagnesemia via SARS2 Gene Sequencing with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics
This panel specifically test the SARS2 gene.
More info about this panel United States.
Mitochondrial Oxidative Phosphorylation Deficiency Sequencing Panel (Nuclear Genes Only) with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Mitochondrial Oxidative Phosphorylation Deficiency Sequencing Panel (Nuclear Genes Only) with CNV Detection that also includes the following genes: BCS1L MRPL12 MRPL3 SCO1 SCO2 SDHB SDHD SLC25A1 SLC25A3 SLC25A4
More info about this panel United States.
Hereditary kidney disorders - different panels Panel
Germany.
By Institute of Human Genetics Uniklinik RWTH Aachen Hereditary kidney disorders - different panels that also includes the following genes: BCS1L ROBO2 CNNM2 CFB SALL1 ATXN10 SCNN1A SCNN1B SCNN1G SDCCAG8
More info about this panel Germany.
Combined Respiratory Chain Defects Panel
Germany.
By MGZ Medical Genetics Center Combined Respiratory Chain Defects that also includes the following genes: SUCLA2 SUCLG1 TK2 TSFM TUFM GFM1 MRPS16 MRPS22 PUS1 LRPPRC
More info about this panel Germany.
Pulmonary diseases - panels Panel
Germany.
By MGZ Medical Genetics Center Pulmonary diseases - panels that also includes the following genes: BMPR1B BMPR2 TBX4 CAV1 CAV3 NME8 ACVRL1 SARS2 CCNO DNAI2
More info about this panel Germany.
Neurogenetic Disorders - panels Panel
Germany.
By MGZ Medical Genetics Center Neurogenetic Disorders - panels that also includes the following genes: BCS1L RTN2 RYR1 SACS SCN1A SCN1B SCN2A SCN8A SCO1 SCO2
More info about this panel Germany.
Epilepsy and Mitochondrial Encephalopathy Panel
Germany.
By MGZ Medical Genetics Center Epilepsy and Mitochondrial Encephalopathy that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SCO1 SCO2 SDHA SDHB SDHC SDHD
More info about this panel Germany.
Mitochondrial Diseases Panel
Germany.
By MGZ Medical Genetics Center Mitochondrial Diseases that also includes the following genes: BCS1L SCO1 SCO2 SDHA SDHB SDHC SDHD SLC19A2 SLC22A5 SLC25A12
More info about this panel Germany.
Mitochondrial Encephalopathy Panel
Germany.
By MGZ Medical Genetics Center Mitochondrial Encephalopathy that also includes the following genes: BCS1L SCO1 SCO2 SDHA SDHB SDHC SDHD SLC19A2 SLC25A12 SLC25A3
More info about this panel Germany.
Epilepsy Panel
Germany.
By MGZ Medical Genetics Center Epilepsy that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SCO1 SCO2 SDHA SDHB SDHC SDHD
More info about this panel Germany.
Comprehensive mitochondrial disorders panel Panel
Germany.
By Centogene AG - the Rare Disease Company Comprehensive mitochondrial disorders panel that also includes the following genes: RNASEL BCS1L MRPL3 SARDH SCO1 SCO2 SCP2 SDHA SDHB SDHC
More info about this panel Germany.
Nuclear encoded Mitochondriopathies Panel Panel
Germany.
By CeGaT GmbH Nuclear encoded Mitochondriopathies Panel that also includes the following genes: RMRP BCS1L MRPL3 SACS SCO1 SCO2 SDHA SDHB SDHC SDHD
More info about this panel Germany.
Mitochondrial Diseases (mtDNA and 133 nuclear genes) Panel
Estonia.
By Asper Biogene Asper Biogene LLC Mitochondrial Diseases (mtDNA and 133 nuclear genes) that also includes the following genes: BCS1L SCO1 SCO2 SDHA SLC25A4 SLC6A8 SOD1 SPG7 SUCLA2 SUCLG1
More info about this panel Estonia.
Nuclear-Mito NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Nuclear-Mito NGS Panel that also includes the following genes: RNASEL BCS1L RPL35A MRPL3 RYR1 RYR2 SACS ACSM3 SARDH ATXN7
More info about this panel United States.
SARS2 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the SARS2 gene.
More info about this panel United States.
KidneySeq - 264 Genes Panel
United States.
By Iowa Institute of Human Genetics University of Iowa KidneySeq - 264 Genes that also includes the following genes: ROBO2 CNNM2 SALL1 ATXN10 SCNN1A SCNN1B SCNN1G SDCCAG8 BMP4 SEMA3E
More info about this panel United States.
Hypomagnesemia Panel Panel
Finland.
By Blueprint Genetics Hypomagnesemia Panel that also includes the following genes: CNNM2 CNNM4 SLC12A3 HNF1B CASR BSND NIPA2 SARS2 TRPM6 CLCNKB
More info about this panel Finland.
Comprehensive Metabolism Panel Panel
Finland.
By Blueprint Genetics Comprehensive Metabolism Panel that also includes the following genes: BCS1L CNNM2 RYR1 CNNM4 SCN4A SEC23B SGSH SI SLC40A1 SLC12A3
More info about this panel Finland.
Familial Hypomagnesemia , Panel Massive Sequencing (NGS) 14 Genes Panel
Spain.
By Reference Laboratory Genetics Familial Hypomagnesemia , Panel Massive Sequencing (NGS) 14 Genes that also includes the following genes: CNNM2 SLC12A3 HNF1B CASR SARS2 TRPM6 CLCNKB CLDN16 CLDN19 EGF
More info about this panel Spain.
If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like PCSK9 DLG3 KCNT1