MCID: GLY019
MIFTS: 27

Glycogen Storage Disease Iiia malady

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

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MalaCards based summary: 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 broad cheeks/cherub-like/cherubin face, storage liver disease 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:46 232400

Aliases & Classifications for Glycogen Storage Disease Iiia

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Sources:
46OMIM, 48Orphanet, 62UMLS, 26ICD10 via Orphanet, 63UMLS via Orphanet
See all sources

Glycogen Storage Disease Iiia, Aliases & Descriptions:

Name: Glycogen Storage Disease Iiia 46 62
Amylo-1,6-Glucosidase Deficiency 48 62
Glycogen Storage Disease Type 3 48 62
Limit Dextrinosis 48 62
Forbes Disease 48 62
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 62
Cori-Forbes Disease 48
Glycogenosis Type 3 48
Cori's Disease 62
Gde Deficiency 48
Cori Disease 48
Gsd Type 3 48
Gsdiii 48


Classifications:



Characteristics (Orphanet epidemiological data):

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


External Ids:

OMIM46 232400
ICD10 via Orphanet26 E74.0
UMLS via Orphanet63 C0017922, C2936915

Related Diseases for Glycogen Storage Disease Iiia

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Symptoms for Glycogen Storage Disease Iiia

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Symptoms by clinical synopsis from OMIM:

232400

Clinical features from OMIM:

232400

Symptoms:

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

HPO human phenotypes related to Glycogen Storage Disease Iiia:

(show all 26)
id Description Frequency HPO Source Accession
1 full cheeks hallmark (90%) HP:0000293
2 hypoglycemia hallmark (90%) HP:0001943
3 abnormality of lipid metabolism hallmark (90%) HP:0003119
4 short stature hallmark (90%) HP:0004322
5 abnormality of immune system physiology hallmark (90%) HP:0010978
6 cognitive impairment hallmark (90%) HP:0100543
7 myopathy typical (50%) HP:0003198
8 autosomal recessive inheritance HP:0000007
9 thin upper lip vermilion HP:0000219
10 malar flattening HP:0000272
11 broad nasal tip HP:0000455
12 deeply set eye HP:0000490
13 muscle weakness HP:0001324
14 hepatic fibrosis HP:0001395
15 cardiomyopathy HP:0001638
16 ventricular hypertrophy HP:0001714
17 hypoglycemia HP:0001943
18 hepatomegaly HP:0002240
19 elevated hepatic transaminases HP:0002910
20 hyperlipidemia HP:0003077
21 myopathy HP:0003198
22 elevated serum creatine phosphokinase HP:0003236
23 distal amyotrophy HP:0003693
24 short stature HP:0004322
25 depressed nasal bridge HP:0005280
26 midface retrusion HP:0011800

Drugs & Therapeutics for Glycogen Storage Disease Iiia

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Drug clinical trials:

Search ClinicalTrials for Glycogen Storage Disease Iiia

Search NIH Clinical Center for Glycogen Storage Disease Iiia

Genetic Tests for Glycogen Storage Disease Iiia

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Anatomical Context for Glycogen Storage Disease Iiia

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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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Variations for Glycogen Storage Disease Iiia

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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:

6
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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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

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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet