Glycogen Storage Disease Ic; Gsd1c
Clinical Features
Top most frequent phenotypes and symptoms related to Glycogen Storage Disease Ic; Gsd1c
- Hypertension
- Hepatomegaly
- Renal insufficiency
- Hypoglycemia
- Proteinuria
- Delayed puberty
- Lactic acidosis
- Hematuria
- Metabolic acidosis
- Pulmonary arterial hypertension
And another 11 symptoms. If you need more information about this disease we can help you.
Incidence and onset information
— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)— No data available about the known clinical features onset.
Alternative names
Glycogen Storage Disease Ic; Gsd1c Is also known as gsd ic.
Researches and researchers
Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.Glycogen Storage Disease Ic; Gsd1c Recommended genes panels
Panel Name, Specifity and genes Tested/covered |
---|
MitoMet®Plus aCGH Analysis.
By Baylor Miraca Genetics Laboratories (United States).
RGS9, RHO, GRK1, RLBP1, RNASEL, BCS1L, RP1, RP2, RP9, RPE65, RPGR, RPL35A, MRPL3, RPS14, RS1, SAG, SARDH, SCO2, SCP2, SDHB , (...)
View the complete list with 612 more genes
Specificity
1 %
Genes
100 % |
SLC37A4 Sequence Analysis (Prenatal Diagnosis).
By Baylor Miraca Genetics Laboratories (United States).
SLC37A4
Specificity
100 %
Genes
100 % |
SLC37A4 Sequence Analysis.
By Baylor Miraca Genetics Laboratories (United States).
SLC37A4
Specificity
100 %
Genes
100 % |
SLC37A4 Deletion/Duplication Analysis.
By Baylor Miraca Genetics Laboratories (United States).
SLC37A4
Specificity
100 %
Genes
100 % |
SLC37A4 Comprehensive - Sequence & Deletion/Duplication Analysis.
By Baylor Miraca Genetics Laboratories (United States).
SLC37A4
Specificity
100 %
Genes
100 % |
GeneAware Complete Panel Version 2 (Female).
By Baylor Miraca Genetics Laboratories (United States).
RMRP, BCS1L, SACS, BLM, SGCA, SGCB, SGCG, SGSH, SLC12A6, SLC17A5, SLC22A5, SLC25A13, SLC25A15, SLC26A2, SLC35A3, SLC7A7, SMN1, SMPD1, BTD, BTK , (...)
View the complete list with 139 more genes
Specificity
1 %
Genes
100 % |
GeneAware Complete Panel Version 2 (Male).
By Baylor Miraca Genetics Laboratories (United States).
RMRP, BCS1L, SACS, BLM, SGCA, SGCB, SGCG, SGSH, SLC12A6, SLC17A5, SLC22A5, SLC25A13, SLC25A15, SLC26A2, SLC35A3, SLC7A7, SMN1, SMPD1, BTD, TGM1 , (...)
View the complete list with 129 more genes
Specificity
1 %
Genes
100 % |
Comprehensive Mitochondrial Metabolic Panel.
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).
BCS1L, SCO1, SCO2, SDHB, SDHC, SDHD, SLC22A5, SLC25A13, SLC25A15, SLC25A3, SLC25A4, BTD, SUCLA2, SUCLG1, SURF1, TAZ, TWNK, TCN2, TFAM, TIMM8A , (...)
View the complete list with 173 more genes
Specificity
1 %
Genes
100 % |
You can get up to 78 more panels with our dedicated tool
Learn moreSources and references
You can check the following sources for additional information.
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