Glycogen Storage Disease Vi; Gsd6

Clinical Features

Top most frequent phenotypes and symptoms related to Glycogen Storage Disease Vi; Gsd6

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Growth delay
  • Failure to thrive
  • Hepatomegaly
  • Fatigue
  • Hypoglycemia
  • Postnatal growth retardation
  • Hypertriglyceridemia

And another 4 symptoms. If you need more information about this disease we can help you.

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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 Vi; Gsd6 Is also known as phosphorylase deficiency glycogen-storage disease of liver, hers disease, gsd vi.

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.


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Glycogen Storage Disease Vi; Gsd6 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
MitoMetĀ®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 %
PYGL Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories (United States).

PYGL
Specificity
100 %
Genes
100 %
PYGL Comprehensive - Sequence & Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories (United States).

PYGL
Specificity
100 %
Genes
100 %
PYGL Sequence Analysis.

By Baylor Miraca Genetics Laboratories (United States).

PYGL
Specificity
100 %
Genes
100 %
PYGL Sequence Analysis (Prenatal Diagnosis).

By Baylor Miraca Genetics Laboratories (United States).

PYGL
Specificity
100 %
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 %
Glycogen Storage Disease and Gluconeogenesis Sequencing Panel.

By Clinic of Pediatrics and Adolescent Medicine General University Hospital in Prague and First Faculty of Medicine, Charles University in Prague (Czech Republic).

SLC2A2, AGL, ENO3, FBP1, G6PC, SLC37A4, GAA, ALDOA, ALDOB, GBE1, GYG1, GYS1, GYS2, KHK, PC, PFKL, PFKM, PGAM2, PGM1, PHKA1 , (...)

View the complete list with 6 more genes
Specificity
4 %
Genes
100 %
Glycogen Storage Disease- Liver.

By Sheffield Diagnostic Genetics Service Sheffield Children's NHS Foundation Trust (United Kingdom).

SLC2A2, AGL, FBP1, G6PC, SLC37A4, GBE1, GYG2, GYS2, PFKL, PHKA2, PHKB, PHKG2, PYGL
Specificity
8 %
Genes
100 %

We have 38 more panels available in our App

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Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Search Engine

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