Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency

Description

Liver phosphorylase deficiency, or glycogen storage disease type 6b (Hers' disease, GSD 6b) is a benign and rare form of glycogen storage disease.

Clinical Features

Phenotypes and symptoms related to Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency

  • Short stature
  • Hypoglycemia

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 Due To Liver Glycogen Phosphorylase Deficiency Is also known as liver glycogen phosphorylase deficiency, glycogen storage disease type vi, gsd type 6, glycogen storage disease type 6, gsd type vi, hepatic glycogen phosphorylase deficiency, glycogenosis type 6, gsd due to liver glycogen phosphorylase deficiency, glycogenosis t.

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 Due To Liver Glycogen Phosphorylase Deficiency 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 %

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Sources and references

You can check the following sources for additional information.

ORPHANET Rare Disease Symptoms Checker

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