MCID: GLY005
MIFTS: 37

Glycogen Storage Disease Vi malady

Genetic diseases, Rare diseases, Endocrine diseases, Liver diseases, Neuronal diseases, Metabolic diseases, Blood diseases, Muscle diseases, Nephrological diseases, Cardiovascular diseases categories

Summaries for Glycogen Storage Disease Vi

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NIH Rare Diseases:43 Glycogen storage disease type 6 is a genetic disease in which the liver cannot process sugar properly.  symptoms usually begin in infancy or childhood and include low blood sugar (hypoglycemia), an enlarged liver (hepatomegaly), or an increase in the amount of lactic acid in the blood (lactic acidosis) particularly when an individual does not eat for a long time.  symptoms improve significantly as individuals with this condition get older.  glycogen storage disease type 6 is caused by mutations in the pygl gene and is inherited in an autosomal recessive manner. last updated: 12/4/2012

MalaCards based summary: Glycogen Storage Disease Vi, also known as glycogen storage disease type vi, is related to hypoparathyroidism and androgen insensitivity, partial, with or without breast cancer, and has symptoms including autosomal recessive inheritance, hypoglycemia and hepatomegaly. An important gene associated with Glycogen Storage Disease Vi is PYGL (phosphorylase, glycogen, liver). Affiliated tissues include liver.

Disease Ontology:10 A glycogen storage disease characterized by enlargement of the liver, moderately low blood sugar, elevated levels of acetone and other ketone bodies in the blood and moderate growth retardation.

Genetics Home Reference:23 Glycogen storage disease type VI (also known as GSDVI or Hers disease) is an inherited disorder caused by an inability to break down a complex sugar called glycogen in liver cells. A lack of glycogen breakdown interferes with the normal function of the liver.

Wikipedia:65 Glycogen storage disease type VI (GSD VI) is a type of glycogen storage disease caused by a deficiency... more...

Description from OMIM:47 232700

GeneReviews summary for gsd6

Aliases & Classifications for Glycogen Storage Disease Vi

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Sources:
47OMIM, 10Disease Ontology, 11diseasecard, 21GeneReviews, 43NIH Rare Diseases, 22GeneTests, 23Genetics Home Reference, 45Novoseek, 49Orphanet, 24GTR, 62UMLS, 57SNOMED-CT, 35MeSH, 29ICD9CM, 28ICD10 via Orphanet, 63UMLS via Orphanet
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Glycogen Storage Disease Vi, Aliases & Descriptions:

Name: Glycogen Storage Disease Vi 47 10 11 21
Glycogen Storage Disease Type Vi 10 21 23 45 62
Hepatic Glycogen Phosphorylase Deficiency 10 23 62
Glycogen Storage Disease 6 43 22 24
Hepatophosphorylase Deficiency Glycogenosis 10 62
Liver Phosphorylase Deficiency Syndrome 23 62
Autoimmune Hypoparathyroidism 43 49
Hers Disease 43 23
 
Gsd Vi 21 23
Gsd6 43 23
Phosphorylase Deficiency Glycogen-Storage Disease of Liver 43
Glycogen Storage Disease Type 6 43
Phosphorylase, Glycogen, Liver 11
Glycogen Storage Disease 62
Hers' Disease 10
Gsd Type Vi 23


Classifications:



External Ids:

OMIM47 232700
Disease Ontology10 DOID:2754
MeSH35 D006013
ICD9CM29 271.0
SNOMED-CT57 237971004, 29291001
Orphanet49 36913
ICD10 via Orphanet28 E20.8
UMLS via Orphanet63 C0271865

Related Diseases for Glycogen Storage Disease Vi

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Graphical network of diseases related to Glycogen Storage Disease Vi:



Diseases related to glycogen storage disease vi

Symptoms for Glycogen Storage Disease Vi

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Symptoms by clinical synopsis from OMIM:

232700

Clinical features from OMIM:

232700

HPO human phenotypes related to Glycogen Storage Disease Vi:

id Description Frequency HPO Source Accession
1 autosomal recessive inheritance HP:0000007
2 hypoglycemia HP:0001943
3 hepatomegaly HP:0002240
4 increased hepatic glycogen content HP:0006568
5 postnatal growth retardation HP:0008897

Drugs & Therapeutics for Glycogen Storage Disease Vi

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Drug clinical trials:

Search ClinicalTrials for Glycogen Storage Disease Vi

Search NIH Clinical Center for Glycogen Storage Disease Vi

Genetic Tests for Glycogen Storage Disease Vi

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Genetic tests related to Glycogen Storage Disease Vi:

id Genetic test Affiliating Genes
1 Glycogen Storage Disease Type Vi22 PYGL
2 Glycogen Storage Disease, Type Vi24

Anatomical Context for Glycogen Storage Disease Vi

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MalaCards organs/tissues related to Glycogen Storage Disease Vi:

33
Liver

Animal Models for Glycogen Storage Disease Vi or affiliated genes

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Publications for Glycogen Storage Disease Vi

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Articles related to Glycogen Storage Disease Vi:

idTitleAuthorsYear
1
The polymorphic locus for glycogen storage disease VI (liver glycogen phosphorylase) maps to chromosome 14. (2883891)
1987

Variations for Glycogen Storage Disease Vi

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UniProtKB/Swiss-Prot genetic disease variations for Glycogen Storage Disease Vi:

64
id Symbol AA change Variation ID SNP ID
1PYGLp.Asn339SerVAR_007908
2PYGLp.Asn377LysVAR_007909

Clinvar genetic disease variations for Glycogen Storage Disease Vi:

7 (show all 19)
id Gene Variation Type Significance SNP ID Assembly Location
1PYGLNM_002863.4(PYGL): c.1768+1G> Asingle nucleotide variantPathogenicrs113993982GRCh37Chr 14, 51378873: 51378873
2PYGLNM_002863.4(PYGL): c.529-1G> Csingle nucleotide variantPathogenicrs113993974GRCh37Chr 14, 51390819: 51390819
3PYGLNM_002863.4(PYGL): c.1131C> G (p.Asn377Lys)single nucleotide variantPathogenicrs113993977GRCh37Chr 14, 51382651: 51382651
4PYGLNM_002863.4(PYGL): c.1620+1G> Asingle nucleotide variantPathogenicrs113993981GRCh37Chr 14, 51379746: 51379746
5PYGLNM_002863.4(PYGL): c.1195C> T (p.Arg399Ter)single nucleotide variantPathogenicrs113993978GRCh37Chr 14, 51382587: 51382587
6PYGLNM_002863.4(PYGL): c.1366G> A (p.Val456Met)single nucleotide variantPathogenicrs113993979GRCh37Chr 14, 51382091: 51382091
7PYGLNM_002863.4(PYGL): c.1471C> T (p.Arg491Cys)single nucleotide variantPathogenicrs113993980GRCh37Chr 14, 51381466: 51381466
8PYGLNM_002863.4(PYGL): c.1895A> T (p.Asn632Ile)single nucleotide variantPathogenicrs113993983GRCh37Chr 14, 51378522: 51378522
9PYGLNM_002863.4(PYGL): c.1900G> C (p.Asp634His)single nucleotide variantPathogenicrs35026927GRCh37Chr 14, 51378517: 51378517
10PYGLNM_002863.4(PYGL): c.2017G> A (p.Glu673Lys)single nucleotide variantPathogenicrs113993984GRCh37Chr 14, 51376773: 51376773
11PYGLNM_002863.4(PYGL): c.2023T> A (p.Ser675Thr)single nucleotide variantPathogenicrs113993985GRCh37Chr 14, 51376767: 51376767
12PYGLNM_002863.4(PYGL): c.2024C> T (p.Ser675Leu)single nucleotide variantPathogenicrs113993986GRCh37Chr 14, 51376766: 51376766
13PYGLNM_002863.4(PYGL): c.2042A> C (p.Lys681Thr)single nucleotide variantPathogenicrs113993987GRCh37Chr 14, 51376748: 51376748
14PYGLNM_002863.4(PYGL): c.2461T> C (p.Tyr821His)single nucleotide variantPathogenicrs113993988GRCh37Chr 14, 51372193: 51372193
15PYGLNM_002863.4(PYGL): c.280C> T (p.Arg94Ter)single nucleotide variantPathogenicrs113993973GRCh37Chr 14, 51404519: 51404519
16PYGLNM_002863.4(PYGL): c.38A> C (p.Gln13Pro)single nucleotide variantPathogenicrs113993972GRCh37Chr 14, 51411084: 51411084
17PYGLNM_002863.4(PYGL): c.698G> A (p.Gly233Asp)single nucleotide variantPathogenicrs113993975GRCh37Chr 14, 51387748: 51387748
18PYGLNM_002863.4(PYGL): c.1016A> G (p.Asn339Ser)single nucleotide variantPathogenicrs113993976GRCh37Chr 14, 51383436: 51383436
19PYGLNM_002863.4: c.1969+1_1969+4delGTACdeletionPathogenicGRCh37Chr 14, 51378444: 51378447

Expression for genes affiliated with Glycogen Storage Disease Vi

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Search GEO for disease gene expression data for Glycogen Storage Disease Vi.

Pathways for genes affiliated with Glycogen Storage Disease Vi

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Compounds for genes affiliated with Glycogen Storage Disease Vi

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GO Terms for genes affiliated with Glycogen Storage Disease Vi

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Products for genes affiliated with Glycogen Storage Disease Vi

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Glycogen Storage Disease Vi

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4CDC
15ExPASy
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet