MCID: GLY019
MIFTS: 27

Glycogen Storage Disease Iiia malady

Genetic diseases, Neuronal diseases, Rare diseases, Liver diseases, Cardiovascular diseases, Blood diseases, Endocrine diseases, Muscle diseases, Nephrological diseases categories
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Summaries for Glycogen Storage Disease Iiia

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Sources:
47OMIM, 33MalaCards
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MalaCards: Glycogen Storage Disease Iiia, also known as amylo-1,6-glucosidase deficiency, is related to glycogen storage disease and glycogen storage disease iii, and has symptoms including hyperlipidemia/hypercholesterolemia/hypertriglyceridemia, immunodeficiency/increased susceptibility to infections/recurrent infections and hypoglycemia. 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:47 232400

Aliases & Classifications for Glycogen Storage Disease Iiia

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Sources:
62UMLS, 49Orphanet, 47OMIM, 26ICD10 via Orphanet, 63UMLS via Orphanet, 59SNOMED-CT via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

49
amylo-1,6-glucosidase deficiency:
Inheritance: Autosomal recessive; Age of onset: Childhood; Age of death: Any age


Aliases & Descriptions:

glycogen storage disease iiia 47 62
amylo-1,6-glucosidase deficiency 49 62
glycogen storage disease due to glycogen debranching enzyme deficiency 49
glycogenosis due to glycogen debranching enzyme deficiency 49
gsd due to glycogen debranching enzyme deficiency 49
glycogen storage disease type iii 62
glycogen storage disease type 3 49
cori-forbes disease 49
glycogenosis type 3 49
limit dextrinosis 49
gde deficiency 49
forbes disease 49
cori disease 49
gsd type 3 49
gsdiii 49


External Ids:

OMIM47 232400
ICD10 via Orphanet26 E74.0
UMLS via Orphanet63 C2936915, C0017922
SNOMED-CT via Orphanet59 66937008, 124472001

Related Diseases for Glycogen Storage Disease Iiia

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17GeneCards, 18GeneDecks
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Symptoms for Glycogen Storage Disease Iiia

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Sources:
47OMIM, 49Orphanet
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Symptoms by clinical synopsis from OMIM:

232400

Clinical features from OMIM:

232400

Symptoms:

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

Drugs & Therapeutics for Glycogen Storage Disease Iiia

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Sources:
42NIH Clinical Center, 6ClinicalTrials
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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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33MalaCards
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MalaCards organs/tissues related to Glycogen Storage Disease Iiia:

33
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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Variations for Glycogen Storage Disease Iiia

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Sources:
64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Glycogen Storage Disease Iiia:

64
id Symbol AA change Variation ID SNP ID
1AGLp.Gly1448ArgVAR_009231

Clinvar genetic disease variations for Glycogen Storage Disease Iiia:

1
id Gene Name Type Significance SNP ID Assembly Location
1AGLNM_000642.2(AGL): c.16C> T (p.Gln6Ter)single nucleotide variantPathogenicrs113994126GRCh37Chr 1, 100316614: 100316614
2AGLNM_000642.2(AGL): c.2039G> A (p.Trp680Ter)single nucleotide variantPathogenicrs113994129GRCh37Chr 1, 100346885: 100346885
3AGLNM_000642.2(AGL): c.17_18delAG (p.Gln6Hisfs)deletionPathogenicrs113994127GRCh37Chr 1, 100316615: 100316616
4AGLNM_000642.2(AGL): c.4260-12A> Gsingle nucleotide variantPathogenicGRCh37Chr 1, 100382143: 100382143
5AGLNM_000642.2(AGL): c.3965delT (p.Val1322Alafs)deletionPathogenicrs113994132GRCh37Chr 1, 100379098: 100379098
6AGLNM_000642.2(AGL): c.1222C> T (p.Arg408Ter)single nucleotide variantPathogenicrs113994128GRCh37Chr 1, 100340950: 100340950
7AGLNM_000642.2(AGL): c.2590C> T (p.Arg864Ter)single nucleotide variantPathogenicrs113994130GRCh37Chr 1, 100350168: 100350168
8AGLNM_000642.2(AGL): c.3682C> T (p.Arg1228Ter)single nucleotide variantPathogenicrs113994131GRCh37Chr 1, 100368332: 100368332
9AGLNM_000642.2(AGL): c.4455delT (p.Ser1486Profs)deletionPathogenicrs113994134GRCh37Chr 1, 100382261: 100382261

Expression for genes affiliated with Glycogen Storage Disease Iiia

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Sources:
2BioGPS, 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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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet