MCID: GLY040
MIFTS: 22

Glycogen Storage Disease, Type Ixa1 malady

Genetic diseases (common), Liver diseases categories

Aliases & Classifications for Glycogen Storage Disease, Type Ixa1

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Aliases & Descriptions for Glycogen Storage Disease, Type Ixa1:

Name: Glycogen Storage Disease, Type Ixa1 46 9
Glycogen Storage Disease Ixa1 46 22
 
Glycogen Storage Disease, Type Ixa2 46
X-Linked Liver Glycogenosis Type 1 20


Classifications:



External Ids:

OMIM46 306000

Summaries for Glycogen Storage Disease, Type Ixa1

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OMIM:46 Glycogen storage disease type IX is a metabolic disorder resulting from a deficiency of hepatic phosphorylase kinase, a... (306000) more...

MalaCards based summary: Glycogen Storage Disease, Type Ixa1, is also known as glycogen storage disease ixa1, and has symptoms including motor delay, x-linked recessive inheritance and growth delay. An important gene associated with Glycogen Storage Disease, Type Ixa1 is PHKA2 (phosphorylase kinase, alpha 2 (liver)). Affiliated tissues include liver.

Related Diseases for Glycogen Storage Disease, Type Ixa1

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Symptoms for Glycogen Storage Disease, Type Ixa1

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Symptoms by clinical synopsis from OMIM:

306000

Clinical features from OMIM:

306000

HPO human phenotypes related to Glycogen Storage Disease, Type Ixa1:

(show all 9)
id Description Frequency HPO Source Accession
1 motor delay HP:0001270
2 x-linked recessive inheritance HP:0001419
3 growth delay HP:0001510
4 hypoglycemia HP:0001943
5 ketosis HP:0001946
6 hypertriglyceridemia HP:0002155
7 hepatomegaly HP:0002240
8 elevated hepatic transaminases HP:0002910
9 hypercholesterolemia HP:0003124

Drugs & Therapeutics for Glycogen Storage Disease, Type Ixa1

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Drug clinical trials:

Search ClinicalTrials for Glycogen Storage Disease, Type Ixa1

Search NIH Clinical Center for Glycogen Storage Disease, Type Ixa1

Genetic Tests for Glycogen Storage Disease, Type Ixa1

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Genetic tests related to Glycogen Storage Disease, Type Ixa1:

id Genetic test Affiliating Genes
1 X-Linked Liver Glycogenosis Type 120
2 Glycogen Storage Disease Type Ixa122

Anatomical Context for Glycogen Storage Disease, Type Ixa1

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MalaCards organs/tissues related to Glycogen Storage Disease, Type Ixa1:

31
Liver

Animal Models for Glycogen Storage Disease, Type Ixa1 or affiliated genes

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Publications for Glycogen Storage Disease, Type Ixa1

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Variations for Glycogen Storage Disease, Type Ixa1

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UniProtKB/Swiss-Prot genetic disease variations for Glycogen Storage Disease, Type Ixa1:

63 (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 Ixa1:

5
id Gene Variation 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 Ixa1

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Search GEO for disease gene expression data for Glycogen Storage Disease, Type Ixa1.

Pathways for genes affiliated with Glycogen Storage Disease, Type Ixa1

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Compounds for genes affiliated with Glycogen Storage Disease, Type Ixa1

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GO Terms for genes affiliated with Glycogen Storage Disease, Type Ixa1

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Sources for Glycogen Storage Disease, Type Ixa1

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2CDC
12ExPASy
13FDA
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet