MCID: GLY041

Glycogen Storage Disease, Type Ixa2 malady

Genetic diseases (common) category
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Summaries for Glycogen Storage Disease, Type Ixa2

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MalaCards based summary: Glycogen Storage Disease, Type Ixa2 An important gene associated with Glycogen Storage Disease, Type Ixa2 is PHKA2 (phosphorylase kinase, alpha 2 (liver)).

Description from OMIM:46 306000

Aliases & Classifications for Glycogen Storage Disease, Type Ixa2

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Glycogen Storage Disease, Type Ixa2, Aliases & Descriptions:

Name: Glycogen Storage Disease, Type Ixa2 46


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases (common)


Related Diseases for Glycogen Storage Disease, Type Ixa2

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Symptoms for Glycogen Storage Disease, Type Ixa2

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Clinical features from OMIM:

306000

Drugs & Therapeutics for Glycogen Storage Disease, Type Ixa2

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Drug clinical trials:

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Genetic Tests for Glycogen Storage Disease, Type Ixa2

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Anatomical Context for Glycogen Storage Disease, Type Ixa2

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Animal Models for Glycogen Storage Disease, Type Ixa2 or affiliated genes

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Publications for Glycogen Storage Disease, Type Ixa2

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Variations for Glycogen Storage Disease, Type Ixa2

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UniProtKB/Swiss-Prot genetic disease variations for Glycogen Storage Disease, Type Ixa2:

64 (show all 17)
id Symbol AA change Variation ID SNP ID
1PHKA2p.His132ProVAR_006177
2PHKA2p.His132TyrVAR_006178
3PHKA2p.Arg186CysVAR_006180
4PHKA2p.Arg186HisVAR_006181
5PHKA2p.Asp299GlyVAR_006183
6PHKA2p.Thr1114IleVAR_006185
7PHKA2p.Pro1205LeuVAR_006186
8PHKA2p.Lys189GluVAR_012269
9PHKA2p.Gly193ValVAR_012271
10PHKA2p.Arg295HisVAR_012272
11PHKA2p.Pro399SerVAR_012273
12PHKA2p.Glu1125LysVAR_012276
13PHKA2p.Gly1207TrpVAR_012277
14PHKA2p.Pro498LeuVAR_062394
15PHKA2p.Pro869ArgVAR_062395
16PHKA2p.Arg916TrpVAR_062396
17PHKA2p.Met1113IleVAR_062398

Clinvar genetic disease variations for Glycogen Storage Disease, Type Ixa2:

6
id Gene Name Type Significance SNP ID Assembly Location
1PHKA2NM_000292.2(PHKA2): c.3025C> T (p.Gln1009Ter)single nucleotide variantPathogenicrs137852285GRCh37Chr X, 18919605: 18919605
2PHKA2NM_000292.2(PHKA2): c.2296C> T (p.Gln766Ter)single nucleotide variantPathogenicrs137852286GRCh37Chr X, 18926983: 18926983
3PHKA2NM_000292.2(PHKA2): c.717+1G> Tsingle nucleotide variantPathogenicGRCh37Chr X, 18961827: 18961827
4PHKA2NM_000292.2(PHKA2): c.3146C> A (p.Ser1049Ter)single nucleotide variantPathogenicrs137852287GRCh37Chr X, 18915417: 18915417
5NM_000292.2(PHKA2): c.3614C> T (p.Pro1205Leu)single nucleotide variantPathogenicrs137852288GRCh37Chr X, 18911697: 18911697
6PHKA2NM_000292.2(PHKA2): c.421_423delTTC (p.Phe141del)deletionPathogenicGRCh37Chr X, 18969253: 18969255
7PHKA2NM_000292.2(PHKA2): c.896A> G (p.Asp299Gly)single nucleotide variantPathogenicrs137852289GRCh37Chr X, 18958135: 18958135

Expression for genes affiliated with Glycogen Storage Disease, Type Ixa2

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Expression patterns in normal tissues for genes affiliated with Glycogen Storage Disease, Type Ixa2

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Pathways for genes affiliated with Glycogen Storage Disease, Type Ixa2

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Compounds for genes affiliated with Glycogen Storage Disease, Type Ixa2

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GO Terms for genes affiliated with Glycogen Storage Disease, Type Ixa2

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Products for genes affiliated with Glycogen Storage Disease, Type Ixa2

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  • Antibodies
  • Proteins
  • Lysates

Sources for Glycogen Storage Disease, Type Ixa2

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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