SEC61A1 gene related symptoms and diseases
All the information presented here about the SEC61A1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,NCBIGENE,HGNC, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to SEC61A1 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Short stature | Very Common - Between 80% and 100% cases |
| Nephropathy | Very Common - Between 80% and 100% cases |
| Elevated serum creatinine | Very Common - Between 80% and 100% cases |
| Gout | Very Common - Between 80% and 100% cases |
| Hyperuricemia | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with SEC61A1 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Focal segmental glomerulosclerosis
- Preaxial polydactyly
- Chronic kidney disease
- Bifid uvula
- Renal cyst
- Neutropenia
- Hematuria
- Postnatal growth retardation
And 12 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to SEC61A1 gene
Here you will find a list of rare diseases related to the SEC61A1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE, 4; HNFJ4
Most common symptoms of HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE, 4; HNFJ4
- Short stature
- Growth delay
- Cleft palate
- Cognitive impairment
- Anemia
More info about HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE, 4; HNFJ4
SOURCES: OMIM
Search interest in SEC61A1
Potential gene panels for SEC61A1 gene
Polycystic kidney and liver disease modifier panel Panel
United Kingdom.
By Sheffield Diagnostic Genetics Service Sheffield Children's NHS Foundation Trust Polycystic kidney and liver disease modifier panel that also includes the following genes: HNF1B TSC1 TSC2 UMOD DNAJB11 SEC61B SEC61A1 SEC63 ALG8 DZIP1L
More info about this panel United Kingdom.
Hereditary Cystic Kidney Diseases Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Hereditary Cystic Kidney Diseases Sequencing Panel with CNV Detection that also includes the following genes: SDCCAG8 HNF1B TSC1 TSC2 UMOD VHL NEK8 DNAJB11 ZNF423 DICER1
More info about this panel United States.
Polycystic kidney disease and related disorders NGS panel Panel
United States.
By Connective Tissue Gene Tests Polycystic kidney disease and related disorders NGS panel that also includes the following genes: HNF1B TSC1 TSC2 UMOD ALG9 ZNF423 INVS SEC61A1 BICC1 OFD1
More info about this panel United States.
Polycystic kidney disease and related disorders Deletion / Duplication panel Panel
United States.
By Connective Tissue Gene Tests Polycystic kidney disease and related disorders Deletion / Duplication panel that also includes the following genes: HNF1B TSC1 TSC2 UMOD ALG9 ZNF423 INVS SEC61A1 BICC1 OFD1
More info about this panel United States.
Polycystic kidney disease and related disorders Comprehensive panel Panel
United States.
By Connective Tissue Gene Tests Polycystic kidney disease and related disorders Comprehensive panel that also includes the following genes: HNF1B TSC1 TSC2 UMOD ALG9 ZNF423 INVS SEC61A1 BICC1 OFD1
More info about this panel United States.
Hyperuricemic nephropathy, familial juvenile Deletion / Duplication panel Panel
United States.
By Connective Tissue Gene Tests Hyperuricemic nephropathy, familial juvenile Deletion / Duplication panel that also includes the following genes: UMOD SEC61A1 REN
More info about this panel United States.
Hyperuricemic nephropathy, familial juvenile Deletion / Duplication panel Panel
United States.
By Connective Tissue Gene Tests Hyperuricemic nephropathy, familial juvenile Deletion / Duplication panel that also includes the following genes: UMOD SEC61A1 REN
More info about this panel United States.
Hyperuricemic nephropathy, familial juvenile NGS panel Panel
United States.
By Connective Tissue Gene Tests Hyperuricemic nephropathy, familial juvenile NGS panel that also includes the following genes: UMOD SEC61A1 REN
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.
SEC61A1 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the SEC61A1 gene.
More info about this panel United States.
Cystic Kidney Disease Panel Panel
Finland.
By Blueprint Genetics Cystic Kidney Disease Panel that also includes the following genes: SDCCAG8 SIX5 HNF1B TSC1 TSC2 UMOD VHL NEK8 ZNF423 INVS
More info about this panel Finland.
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