MCID: GLY019
MIFTS: 26

Glycogen Storage Disease Iiia malady

Neuronal diseases, Metabolic diseases categories

Summaries for Glycogen Storage Disease Iiia

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Sources:
46OMIM, 32MalaCards
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MalaCards: Glycogen Storage Disease Iiia, also known as amylo-1,6-glucosidase deficiency, is related to liver disease and glycogen storage disease, and has symptoms including myopathy, short stature/dwarfism/nanism and autosomal recessive inheritance. An important gene associated with Glycogen Storage Disease Iiia is AGL (amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase). Affiliated tissues include liver.

Description from OMIM:46 232400

Aliases & Classifications for Glycogen Storage Disease Iiia

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Sources:
46OMIM, 48Orphanet, 60UMLS, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Metabolic diseases
Anatomical: Neuronal diseases


Characteristics (Orphanet epidemiological data):

48
amylo-1,6-glucosidase deficiency:
Inheritance: Autosomal recessive; Age of onset: Childhood; Age of death: Any age


Aliases & Descriptions:

glycogen storage disease iiia 46 60
amylo-1,6-glucosidase deficiency 48 60
glycogen storage disease due to glycogen debranching enzyme deficiency 48
glycogenosis due to glycogen debranching enzyme deficiency 48
gsd due to glycogen debranching enzyme deficiency 48
glycogen storage disease type iii 60
glycogen storage disease type 3 48
glycogenosis type 3 48
cori-forbes disease 48
limit dextrinosis 48
gde deficiency 48
forbes disease 48
cori disease 48
gsd type 3 48
gsdiii 48


External Ids:

OMIM46 232400
ICD10 via Orphanet26 E74.0
SNOMED-CT via Orphanet57 66937008, 124472001

Related Diseases for Glycogen Storage Disease Iiia

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17GeneCards, 18GeneDecks
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Graphical network of diseases related to Glycogen Storage Disease Iiia:



Diseases related to glycogen storage disease iiia

Clinical Features for Glycogen Storage Disease Iiia

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Sources:
46OMIM, 48Orphanet
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Clinical features from OMIM:

232400

Clinical synopsis from OMIM:

232400

Symptoms:

48 (show all 9)
  • myopathy
  • short stature/dwarfism/nanism
  • autosomal recessive inheritance
  • hyperlipidemia/hypercholesterolemia/hypertriglyceridemia
  • immunodeficiency/increased susceptibility to infections/recurrent infections
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • hypoglycemia
  • storage liver disease
  • broad cheeks/cherub-like/cherubin face

Drugs & Therapeutics for Glycogen Storage Disease Iiia

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Glycogen Storage Disease Iiia

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Anatomical Context for Glycogen Storage Disease Iiia

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Sources:
32MalaCards
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MalaCards organs/tissues related to Glycogen Storage Disease Iiia:

32
Liver

Animal Models for Glycogen Storage Disease Iiia or affiliated genes

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Publications for Glycogen Storage Disease Iiia

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Genetic Variations for Glycogen Storage Disease Iiia

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Sources:
62UniProtKB/Swiss-Prot
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Genetic disease variations for Glycogen Storage Disease Iiia:

62
id Symbol AA change Variation ID SNP ID
1AGLp.Gly1448ArgVAR_009231

Expression for genes affiliated with Glycogen Storage Disease Iiia

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Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Glycogen Storage Disease Iiia

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Pathways for genes affiliated with Glycogen Storage Disease Iiia

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Compounds for genes affiliated with Glycogen Storage Disease Iiia

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GO Terms for genes affiliated with Glycogen Storage Disease Iiia

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Products for genes affiliated with Glycogen Storage Disease Iiia

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Glycogen Storage Disease Iiia

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet