MCID: GLY081
MIFTS: 17

Glycogen Storage Disease Due to Glucose-6-Phosphatase Deficiency

Categories: Liver diseases, Nephrological diseases, Metabolic diseases, Rare diseases

Aliases & Classifications for Glycogen Storage Disease Due to Glucose-6-Phosphatase Deficiency

MalaCards integrated aliases for Glycogen Storage Disease Due to Glucose-6-Phosphatase Deficiency:

Name: Glycogen Storage Disease Due to Glucose-6-Phosphatase Deficiency 56
Glycogen Storage Disease Type I 56 69
Glycogen Storage Disease Due to G6p Deficiency 56
Glycogen Storage Disease Type Ia 69
Glycogen Storage Disease Type 1 56
Gsd Due to G6p Deficiency 56
Hepatorenal Glycogenosis 56
Glycogenosis Type I 56
Glycogenosis Type 1 56
Von Gierke Disease 56
G6p Deficiency 56
Gsd Type I 56
Gsd Type 1 56

Characteristics:

Orphanet epidemiological data:

56
glycogen storage disease due to glucose-6-phosphatase deficiency
Inheritance: Autosomal recessive; Prevalence: 1-9/100000 (Worldwide); Age of onset: Infancy,Neonatal;

Classifications:



Summaries for Glycogen Storage Disease Due to Glucose-6-Phosphatase Deficiency

MalaCards based summary : Glycogen Storage Disease Due to Glucose-6-Phosphatase Deficiency, also known as glycogen storage disease type i, is related to glycogen storage disease ia, and has symptoms including full cheeks, xanthomatosis and seizures. An important gene associated with Glycogen Storage Disease Due to Glucose-6-Phosphatase Deficiency is G6PC (Glucose-6-Phosphatase Catalytic Subunit). Affiliated tissues include liver.

Related Diseases for Glycogen Storage Disease Due to Glucose-6-Phosphatase Deficiency

Diseases related to Glycogen Storage Disease Due to Glucose-6-Phosphatase Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 glycogen storage disease ia 11.3

Symptoms & Phenotypes for Glycogen Storage Disease Due to Glucose-6-Phosphatase Deficiency

Human phenotypes related to Glycogen Storage Disease Due to Glucose-6-Phosphatase Deficiency:

56 32 (show all 11)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 full cheeks 56 32 hallmark (90%) Very frequent (99-80%) HP:0000293
2 xanthomatosis 56 32 occasional (7.5%) Occasional (29-5%) HP:0000991
3 seizures 56 32 hallmark (90%) Very frequent (99-80%) HP:0001250
4 muscular hypotonia 56 32 hallmark (90%) Very frequent (99-80%) HP:0001252
5 hypoglycemia 56 32 hallmark (90%) Very frequent (99-80%) HP:0001943
6 hyperuricemia 56 32 hallmark (90%) Very frequent (99-80%) HP:0002149
7 recurrent respiratory infections 56 32 hallmark (90%) Very frequent (99-80%) HP:0002205
8 hyperlipidemia 56 32 hallmark (90%) Very frequent (99-80%) HP:0003077
9 short stature 56 32 hallmark (90%) Very frequent (99-80%) HP:0004322
10 cognitive impairment 56 32 hallmark (90%) Very frequent (99-80%) HP:0100543
11 recurrent infections 56 Very frequent (99-80%)

UMLS symptoms related to Glycogen Storage Disease Due to Glucose-6-Phosphatase Deficiency:


intermittent diarrhea

Drugs & Therapeutics for Glycogen Storage Disease Due to Glucose-6-Phosphatase Deficiency

Search Clinical Trials , NIH Clinical Center for Glycogen Storage Disease Due to Glucose-6-Phosphatase Deficiency

Genetic Tests for Glycogen Storage Disease Due to Glucose-6-Phosphatase Deficiency

Anatomical Context for Glycogen Storage Disease Due to Glucose-6-Phosphatase Deficiency

MalaCards organs/tissues related to Glycogen Storage Disease Due to Glucose-6-Phosphatase Deficiency:

39
Liver

Publications for Glycogen Storage Disease Due to Glucose-6-Phosphatase Deficiency

Variations for Glycogen Storage Disease Due to Glucose-6-Phosphatase Deficiency

ClinVar genetic disease variations for Glycogen Storage Disease Due to Glucose-6-Phosphatase Deficiency:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 G6PC NM_000151.3(G6PC): c.379_380dupTA (p.Tyr128Thrfs) duplication Pathogenic/Likely pathogenic rs80356488 GRCh37 Chromosome 17, 41059578: 41059579
2 G6PC NM_000151.3(G6PC): c.247C> T (p.Arg83Cys) single nucleotide variant Pathogenic rs1801175 GRCh37 Chromosome 17, 41055964: 41055964
3 G6PC NM_000151.3(G6PC): c.883C> T (p.Arg295Cys) single nucleotide variant Pathogenic/Likely pathogenic rs104894563 GRCh37 Chromosome 17, 41063252: 41063252
4 G6PC NM_000151.3(G6PC): c.79delC (p.Gln27Argfs) deletion Pathogenic rs80356479 GRCh37 Chromosome 17, 41052972: 41052972

Expression for Glycogen Storage Disease Due to Glucose-6-Phosphatase Deficiency

Search GEO for disease gene expression data for Glycogen Storage Disease Due to Glucose-6-Phosphatase Deficiency.

Pathways for Glycogen Storage Disease Due to Glucose-6-Phosphatase Deficiency

GO Terms for Glycogen Storage Disease Due to Glucose-6-Phosphatase Deficiency

Sources for Glycogen Storage Disease Due to Glucose-6-Phosphatase Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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