Glycogen Storage Disease Ia; Gsd1a

Description

Glycogen storage disease type I, also known as von Gierke disease, typically manifests during the first year of life with severe hypoglycemia and hepatomegaly caused by the accumulation of glycogen. Affected individuals exhibit growth retardation, delayed puberty, lactic acidemia, hyperlipidemia, hyperuricemia, and in adults a high incidence of hepatic adenomas (summary by Lei et al., 1993).

Clinical Features

Top most frequent phenotypes and symptoms related to Glycogen Storage Disease Ia; Gsd1a

  • Seizures
  • Short stature
  • Growth delay
  • Neoplasm
  • Muscular hypotonia
  • Cognitive impairment
  • Anemia
  • Hypertension
  • Hepatomegaly
  • Myopathy

And another 63 symptoms. If you need more information about this disease we can help you.

Click here to know more about Mendelian.

Incidence and onset information

— Based on the latest data available GLYCOGEN STORAGE DISEASE IA; GSD1A have a estimated birth prevalence of 1 per 100k in Europe.
No data available about the known clinical features onset.

Alternative names

Glycogen Storage Disease Ia; Gsd1a Is also known as gsd1, hepatorenal form of glycogen storage disease, hepatorenal glycogenosis, glucose-6-phosphatase deficiency, gsd ia, von gierke disease, glycogen storage disease i.

Researches and researchers

Doctors, researchs, and experts related to Glycogen Storage Disease Ia; Gsd1a extracted from public data.

Glycogen Storage Disease Ia; Gsd1a Experts map



Current Researchs and researchers

  • GENOVA — Dr Mirella FILOCAMO

    Responsible for diagnostic tests - Investigator of research project - Manager of biobank/collection - Coordinator of biobank network - Director of laboratory - Quality manager

    • Institution/s:
      — IRCCS Istituto G. Gaslini - Ospedale Pediatrico
    • Research area/topic::

      Molecular characterization of metabolic-genetic diseases



Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Glycogen Storage Disease Ia; Gsd1a 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 %
G6PC Comprehensive - Sequence & Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories (United States).

G6PC
Specificity
100 %
Genes
100 %
G6PC Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories (United States).

G6PC
Specificity
100 %
Genes
100 %
G6PC Sequence Analysis.

By Baylor Miraca Genetics Laboratories (United States).

G6PC
Specificity
100 %
Genes
100 %
G6PC Sequence Analysis (Prenatal Diagnosis).

By Baylor Miraca Genetics Laboratories (United States).

G6PC
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 %
GeneAware Ashkenazi Jewish Panel Version 2 (Female).

By Baylor Miraca Genetics Laboratories (United States).

BLM, SLC35A3, SMN1, SMPD1, CLRN1, MCOLN1, PCDH15, RTEL1, CFTR, SUMF1, DHDDS, ADAMTS2, COL4A3, CPT2, TMEM216, DHCR7, DLD, DMD, FAH, FANCC , (...)

View the complete list with 19 more genes
Specificity
3 %
Genes
100 %

We have 86 more panels available in our App

Get the app

Sources and references

You can check the following sources for additional information.

ORPHANET OMIM Genetic Syndrome Finder

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like PARKINSON DISEASE 19A, JUVENILE-ONSET; PARK19A SHORT-RIB THORACIC DYSPLASIA 5 WITH OR WITHOUT POLYDACTYLY; SRTD5 GORDON HOLMES SYNDROME; GDHS STUVE-WIEDEMANN SYNDROME MULTIPLE SULFATASE DEFICIENCY; MSD CHOPS SYNDROME; CHOPS

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more