Glycogen Storage Disease Xi; Gsd11

Clinical Features

Top most frequent phenotypes and symptoms related to Glycogen Storage Disease Xi; Gsd11

  • Pain
  • Fatigue
  • Renal insufficiency
  • Elevated serum creatine phosphokinase
  • Rigidity
  • Myalgia
  • Muscle cramps
  • Increased serum lactate
  • Muscle stiffness
  • Exercise intolerance

And another 6 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

Not enough data available about incidence and published cases.
No data available about the known clinical features onset.

Alternative names

Glycogen Storage Disease Xi; Gsd11 Is also known as gsd xi, lactate dehydrogenase a deficiency.

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 Xi; Gsd11 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 %
LDHA Sequence Analysis.

By Baylor Miraca Genetics Laboratories (United States).

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

By Baylor Miraca Genetics Laboratories (United States).

LDHA
Specificity
100 %
Genes
100 %
NGS Rhabdomyolysis and Metabolic Myopathies Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).

RYR1, SCN4A, SLC16A1, SUCLA2, TWNK, TK2, TSFM, LPIN1, SLC25A20, CASQ1, CAV3, RRM2B, FKRP, CPT2, SIL1, CTDP1, ANO5, TSEN54, DGUOK, DMD , (...)

View the complete list with 27 more genes
Specificity
3 %
Genes
100 %
NGS Rhabdomyolysis and Metabolic Myopathies Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).

RYR1, SCN4A, SLC16A1, SUCLA2, TWNK, TK2, TSFM, LPIN1, SLC25A20, CASQ1, CAV3, RRM2B, FKRP, CPT2, SIL1, CTDP1, ANO5, TSEN54, DGUOK, DMD , (...)

View the complete list with 27 more genes
Specificity
3 %
Genes
100 %
Glycogen Storage Disease- Muscle.

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

RBCK1, AGL, ENO3, FBP2, GAA, ALDOA, GBE1, GYG1, GYS1, LDHA, PFKM, PGAM2, PGK1, PGM1, PHKA1, PHKG1, PYGM
Specificity
6 %
Genes
100 %
Rhabdomyolysis.

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

RYR1, SLC22A5, LPIN1, CAV3, RBCK1, CPT1B, CPT2, ISCU, AGL, ENO3, ETFA, ETFB, ETFDH, FBP2, GAA, ALDOA, GBE1, GYG1, GYS1, HADHA , (...)

View the complete list with 10 more genes
Specificity
4 %
Genes
100 %
Glycogen storage disease type XI (sequence analysis of LDHA gene).

By CGC Genetics (Portugal).

LDHA
Specificity
100 %
Genes
100 %

We have 21 more panels available in our App

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Sources and references

You can check the following sources for additional information.

ORPHANET OMIM Rare Disease Symptoms Checker

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