Glycogen Storage Disease Iv; Gsd4

Clinical Features

Top most frequent phenotypes and symptoms related to Glycogen Storage Disease Iv; Gsd4

  • Generalized hypotonia
  • Failure to thrive
  • Muscle weakness
  • Muscular hypotonia
  • Flexion contracture
  • Hypertension
  • Peripheral neuropathy
  • Hepatomegaly
  • Skeletal muscle atrophy
  • Talipes equinovarus

And another 38 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 Iv; Gsd4 Is also known as andersen disease, brancher deficiency, gbe1 deficiency, amylopectinosis, gsd iv, glycogen branching enzyme deficiency, cirrhosis, familial, with deposition of abnormal glycogen, glycogenosis iv.

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 Iv; Gsd4 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 %
GBE1 Sequence Analysis (Prenatal Diagnosis).

By Baylor Miraca Genetics Laboratories (United States).

GBE1
Specificity
100 %
Genes
100 %
GBE1 Comprehensive - Sequence & Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories (United States).

GBE1
Specificity
100 %
Genes
100 %
GBE1 Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories (United States).

GBE1
Specificity
100 %
Genes
100 %
GBE1 Sequence Analysis.

By Baylor Miraca Genetics Laboratories (United States).

GBE1
Specificity
100 %
Genes
100 %
Non-immune Hydrops Panel.

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

RIT1, RPL11, RPL35A, RPL5, RPS10, RPS17, RPS19, RPS24, RPS26, SEC23B, SLC17A5, BRAF, SMPD1, SOS1, SOS2, SOX18, UROS, CBL, SHOC2, ALG9 , (...)

View the complete list with 66 more genes
Specificity
2 %
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 %
GBE1 Mutation Analysis.

By Molecular Diagnostics Laboratory University of Toledo Medical Center (United States).

GBE1
Specificity
100 %
Genes
100 %

We have 89 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 Symptoms Checker

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