Glycogen Storage Disease Ixa1 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Glycogen Storage Disease Ixa1

MalaCards integrated aliases for Glycogen Storage Disease Ixa1:

Name: Glycogen Storage Disease Ixa1 ⁵⁷ ⁷³ ⁷¹

Glycogen Storage Disease, Type Ixa2 ⁵⁷ ⁷¹

Glycogen Storage Disease, Type Ixa1 ⁵⁷ ¹³

Glycogen Storage Disease Type Ixa1 ²⁹ ⁶

Glycogen Storage Disease Ixa2 ⁷³ ⁶

Gsd9a1 ⁵⁷ ⁷³

Liver Glycogenosis, X-Linked, Type I; Xlg1 ⁵⁷

Glycogen Storage Disease Viii, Formerly ⁵⁷

Hepatic Phosphorylase Kinase Deficiency ⁷³

Liver Glycogenosis, X-Linked, Type I ⁵⁷

Storage Disease, Glycogen, Type Ixa1 ³⁹

X-Linked Liver Glycogenosis Type Ii ⁷³

Gsd Viii, Formerly; Gsd8, Formerly ⁵⁷

Glycogen Storage Disease Type Viii ⁷¹

X-Linked Liver Glycogenosis Type I ⁷³

Glycogen Storage Disease, Type Ix ⁷¹

Glycogen Storage Disease Viii ⁷³

Glycogen Storage Disease Ixa ⁷³

Glycogen Storage Disease Via ⁷³

Glycogen Storage Disease 9a ⁷³

X-Linked Liver Glycogenosis ⁷³

Gsd Viii, Formerly ⁵⁷

Gsd8, Formerly ⁵⁷

Gsd-Viii ⁷³

Gsd-Ixa ⁷³

Gsd-Via ⁷³

Gsd9a2 ⁷³

Gsd9a ⁷³

Xlg1 ⁵⁷

Xlg ⁷³

Characteristics:

OMIM®:

⁵⁷ (Updated 05-Mar-2021)

Inheritance:
x-linked recessive

Miscellaneous:
clinical and biochemical abnormalities disappear with age

HPO:

³¹

glycogen storage disease ixa1:
Inheritance x-linked recessive inheritance

Classifications:

MalaCards categories:
Global: Genetic diseases Metabolic diseases
Anatomical: Muscle diseases Liver diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM® ⁵⁷ 306000

MeSH ⁴⁴ D006008

MedGen ⁴¹ C0017927 C1844412 C2748941 more

SNOMED-CT via HPO ⁶⁸ 13644009 166603001 166643006 more

UMLS ⁷¹ C0017927 C0268147 C2748941 more

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Summaries for Glycogen Storage Disease Ixa1

OMIM® : ⁵⁷ Glycogen storage disease type IX is a metabolic disorder resulting from a deficiency of hepatic phosphorylase kinase, a hexadecameric enzyme comprising 4 copies each of 4 unique subunits encoded by 4 different genes: alpha (PHKA2), beta (PHKB; 172490), gamma (PHKG2; 172471), and delta (CALM1; 114180). Mutations within the PHKA2, PHKB, and PHKG2 genes result in GSD9A, GSD9B (261750), and GSD9C (613027), respectively. GSD IXa is an X-linked recessive disorder, whereas the others are autosomal recessive. GSD IXa has been further divided into types IXa1 (GSD9A1), with no PHK activity in liver or erythrocytes, and IXa2 (GSD9A2), with no PHK in liver, but normal activity in erythrocytes. The clinical presentation of both subtypes is the same, and both are caused by mutations in the PHKA2 gene. However, mutations that result in IXa2 are either missense or small in-frame deletions or insertions enabling residual enzyme expression in erythrocytes (Keating et al., 1985; Hendrickx et al., 1994; Beauchamp et al., 2007). See also X-linked muscle PHK deficiency (GSD9D; 300559), caused by mutation in the gene encoding the muscle-specific alpha PHK subunit (PHKA1; 311870). (306000) (Updated 05-Mar-2021)

MalaCards based summary : Glycogen Storage Disease Ixa1, also known as glycogen storage disease, type ixa2, is related to glycogen storage disease viii and glycogen storage disease due to liver phosphorylase kinase deficiency. An important gene associated with Glycogen Storage Disease Ixa1 is PHKA2 (Phosphorylase Kinase Regulatory Subunit Alpha 2). Affiliated tissues include liver, and related phenotypes are hypoglycemia and hepatomegaly

UniProtKB/Swiss-Prot : ⁷³ Glycogen storage disease 9A: A metabolic disorder resulting in a mild liver glycogenosis with clinical symptoms that include hepatomegaly, growth retardation, muscle weakness, elevation of glutamate-pyruvate transaminase and glutamate-oxaloacetate transaminase, hypercholesterolemia, hypertriglyceridemia, and fasting hyperketosis. Two subtypes are known: type 1 or classic type with no phosphorylase kinase activity in liver or erythrocytes, and type 2 or variant type with no phosphorylase kinase activity in liver, but normal activity in erythrocytes. Unlike other glycogenosis diseases, glycogen storage disease type 9A is generally a benign condition. Patients improve with age and are often asymptomatic as adults. Accurate diagnosis is therefore also of prognostic interest.

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Related Diseases for Glycogen Storage Disease Ixa1

Diseases related to Glycogen Storage Disease Ixa1 via text searches within MalaCards or GeneCards Suite gene sharing:

(showing 12, show less)

#	Related Disease	Score	Top Affiliating Genes
1	glycogen storage disease viii	31.9	PHKA2-AS1 PHKA2
2	glycogen storage disease due to liver phosphorylase kinase deficiency	30.6	PHKA2-AS1 PHKA2
3	glycogen storage disease ixa	11.6
4	hypoglycemia	10.2
5	glycogen storage disease	10.2
6	phosphorylase kinase deficiency	10.2
7	renal tubular acidosis, proximal	10.1
8	glycogen storage disease ia	10.1
9	renal tubular acidosis	10.1
10	sensory peripheral neuropathy	10.1
11	insulin-like growth factor i	10.1
12	metabolic acidosis	10.1

Graphical network of the top 20 diseases related to Glycogen Storage Disease Ixa1:

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Symptoms & Phenotypes for Glycogen Storage Disease Ixa1

Human phenotypes related to Glycogen Storage Disease Ixa1:

³¹ (showing 8, show less)

#	Description	HPO Frequency	HPO Source Accession
1	hypoglycemia ³¹	frequent (33%)	HP:0001943
2	hepatomegaly ³¹		HP:0002240
3	hypertriglyceridemia ³¹		HP:0002155
4	growth delay ³¹		HP:0001510
5	elevated hepatic transaminase ³¹		HP:0002910
6	motor delay ³¹		HP:0001270
7	hypercholesterolemia ³¹		HP:0003124
8	ketosis ³¹		HP:0001946

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 05-Mar-2021)

Abdomen Liver:
hepatomegaly
liver histology reveals glycogen-distended hepatocytes

Laboratory Abnormalities:
variable hypoglycemia
liver phosphorylase kinase (phk) deficiency
phosphorylase kinase normal in muscle
mild elevation of transaminases
mild elevation of cholesterol
more

Growth Height:
growth retardation
normal final adult height

Neurologic Central Nervous System:
motor developmental delay, mild

Clinical features from OMIM®:

306000 (Updated 05-Mar-2021)

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Drugs & Therapeutics for Glycogen Storage Disease Ixa1

Interventional clinical trials:

(showing 2, show less)

#	Name	Status	NCT ID	Phase	Drugs
1	Clinical and Molecular Evaluations in Glycogen Storage Disease Type IX	Recruiting	NCT04454216
2	Biomarker for Glycogen Storage Diseases - AN INTERNATIONAL, MULTICENTER, EPIDEMIOLOGICAL PROTOCOL	Active, not recruiting	NCT02385162

Search NIH Clinical Center for Glycogen Storage Disease Ixa1

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Genetic Tests for Glycogen Storage Disease Ixa1

Genetic tests related to Glycogen Storage Disease Ixa1:

#	Genetic test	Affiliating Genes
1	Glycogen Storage Disease Type Ixa1 ²⁹	PHKA2

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Anatomical Context for Glycogen Storage Disease Ixa1

MalaCards organs/tissues related to Glycogen Storage Disease Ixa1:

⁴⁰

Liver

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Publications for Glycogen Storage Disease Ixa1

Articles related to Glycogen Storage Disease Ixa1:

(showing 30, show less)

#	Title	Authors	PMID	Year
1	X-linked liver glycogenosis type II (XLG II) is caused by mutations in PHKA2, the gene encoding the liver alpha subunit of phosphorylase kinase. ⁶¹ ⁵⁷ ⁶	Hendrickx J...Willems PJ	8733133	1996
2	Glycogen storage disease type IX: High variability in clinical phenotype. ⁶ ⁵⁷	Beauchamp NJ...Sharrard M	17689125	2007
3	Clinical, biochemical and molecular findings in a patient with X-linked liver glycogenosis followed for 40 years. ⁶ ⁵⁷	Hendrickx J...Gitzelmann R	9835437	1998
4	Variability of biochemical and clinical phenotype in X-linked liver glycogenosis with mutations in the phosphorylase kinase PHKA2 gene. ⁶ ⁵⁷	Burwinkel B...Kilimann MW	9600238	1998
5	Mutation hotspots in the PHKA2 gene in X-linked liver glycogenosis due to phosphorylase kinase deficiency with atypical activity in blood cells (XLG2). ⁶ ⁵⁷	Burwinkel B...Kilimann MW	8733134	1996
6	X-linked liver phosphorylase kinase deficiency is associated with mutations in the human liver phosphorylase kinase alpha subunit. ⁶ ⁵⁷	van den Berg IE...Berger R	7847371	1995
7	Mutations in the phosphorylase kinase gene PHKA2 are responsible for X-linked liver glycogen storage disease. ⁶ ⁵⁷	Hendrickx J...Willems PJ	7711737	1995
8	The natural history of liver glycogenosis due to phosphorylase kinase deficiency: a longitudinal study of 41 patients. ⁵⁷ ⁶	Willems PJ...Fernandes J	2303074	1990
9	X-chromosomal inheritance of liver glycogenosis with phosphorylase kinase deficiency. ⁶ ⁵⁷	Huijing F...Fernandes J	5306139	1969
10	Diagnosis and management of glycogen storage diseases type VI and IX: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG). ⁵⁷	Kishnani PS...ACMG Work Group on Diagnosis and Management of Glycogen Storage Diseases Type VI and IX	30659246	2019
11	The natural history of glycogen storage disease types VI and IX: Long-term outcome from the largest metabolic center in Canada. ⁵⁷	Roscher A...Mercimek-Mahmutoglu S	25266922	2014
12	Complete genomic structure and mutational spectrum of PHKA2 in patients with x-linked liver glycogenosis type I and II. ⁵⁷	Hendrickx J...Willems PJ	10330341	1999
13	Localization of a new type of X-linked liver glycogenosis to the chromosomal region Xp22 containing the liver alpha-subunit of phosphorylase kinase (PHKA2). ⁵⁷	Hendrickx J...Fernandes J	7959740	1994
14	Phosphorylase kinase deficiency in I-strain mice is associated with a frameshift mutation in the alpha subunit muscle isoform. ⁵⁷	Schneider A...Kilimann MW	8298647	1993
15	X-linked liver glycogenosis: localization and isolation of a candidate gene. ⁵⁷	Hendrickx J...Berthelot J	8518797	1993
16	Mapping of the gene for X-linked liver glycogenosis due to phosphorylase kinase deficiency to human chromosome region Xp22. ⁵⁷	Willems PJ...Van Broeckhoven C	1674721	1991
17	X-linked glycogen storage disease. A cause of hypotonia, hyperuricemia, and growth retardation. ⁵⁷	Keating JP...DiMauro S	3859203	1985
18	Lymphocyte phosphorylase kinase activities in the sex-linked form of liver phosphorylase kinase deficiency. ⁵⁷	Goji K...Matsuo T	3987709	1985
19	X-linked dominant inheritance of partial phosphorylase kinase deficiency in mice. ⁵⁷	Varsanyi M...Heilmeyer LM	7447922	1980
20	Dextrothyroxine treatment of phosphorylase-kinase deficiency glycogenosis in four boys. ⁵⁷	Garibaldi LR...Battistini E	280544	1978
21	Glycogen storage disease, types I to X: criteria for morphologic diagnosis. ⁵⁷	McAdams AJ...Bove KE	4525190	1974
22	Glycogen-storage disease associated with phosphorylase kinase deficiency: evidence for X inactivation. ⁵⁷	Migeon BR...Huijing F	4524311	1974
23	Glycogen storage disease type IX: benign glycogenosis of liver and hepatic phosphorylase kinase deficiency. ⁵⁷	Schimke RN...Hug G	4518931	1973
24	Liver glycogenosis and phosphorylase kinase deficiency. ⁵⁷	Huijing F...Fernandes J	5270453	1970
25	Glycogen-storage disease Type VIa: low phosphorylase kinase activity caused by a low enzyme-substrate affinity. ⁵⁷	Huijing F	5266383	1970
26	Phosphorylase kinase deficiency. ⁵⁷	Huijing F	5444101	1970
27	Deficient activity of dephosphophosphorylase kinase and accumulation of glycogen in the liver. ⁵⁷	Hug G...Chuck G	5774108	1969
28	Hepatic phosphorylase defect. Studies on peripheral blood. ⁵⁷	Wallis PG...Harris RC	5904467	1966
29	Low leukocyte phosphorylase in hepatic phosphorylase-deficient glycogen storage disease. ⁵⁷	WILLIAMS HE...FIELD JB	14007166	1961
30	[Enzymatic studies of hepatic fragments; application to the classification of glycogenoses]. ⁵⁷	HERS HG	13646331	1959

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Genes for Glycogen Storage Disease Ixa1

Genes related to Glycogen Storage Disease Ixa1 (2 elite genes):

(showing 2, show less)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	PHKA2	Phosphorylase Kinase Regulatory Subunit Alpha 2	Protein Coding	1325	Molecular basis known ⁵⁷ Pathogenic ⁶ Pathogenic/Likely pathogenic ⁶ Causative variation ⁷³ Genetic Tests ²⁹ Likely pathogenic ⁶	8733133 8733134 9835437 (more) 9600238 17689125 7847371 7711737
2	PHKA2-AS1	PHKA2 Antisense RNA 1	RNA Gene	425	Pathogenic ⁶ Likely pathogenic ⁶	8733133 5306139 2303074 (more) 7847371

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Variations for Glycogen Storage Disease Ixa1

ClinVar genetic disease variations for Glycogen Storage Disease Ixa1:

⁶ (showing 109, show less)

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	PHKA2	PHKA2, 6-BP INS, NT3331	Insertion	Pathogenic	10540
2	PHKA2	NM_000292.3(PHKA2):c.3025C>T (p.Gln1009Ter)	SNV	Pathogenic	10527	rs137852285	X:18919605-18919605	X:18901487-18901487
3	PHKA2	NM_000292.3(PHKA2):c.2296C>T (p.Gln766Ter)	SNV	Pathogenic	10528	rs137852286	X:18926983-18926983	X:18908865-18908865
4	PHKA2	NM_000292.3(PHKA2):c.717+1G>T	SNV	Pathogenic	10529	rs587776731	X:18961827-18961827	X:18943709-18943709
5	PHKA2	NM_000292.3(PHKA2):c.3146C>A (p.Ser1049Ter)	SNV	Pathogenic	10530	rs137852287	X:18915417-18915417	X:18897299-18897299
6	PHKA2	NM_000292.3(PHKA2):c.421_423del (p.Phe141del)	Deletion	Pathogenic	10532	rs587776732	X:18969253-18969255	X:18951135-18951137
7	PHKA2	NM_000292.3(PHKA2):c.896A>G (p.Asp299Gly)	SNV	Pathogenic	10534	rs137852289	X:18958135-18958135	X:18940017-18940017
8	PHKA2	NM_000292.3(PHKA2):c.395A>C (p.His132Pro)	SNV	Pathogenic	10536	rs137852291	X:18969281-18969281	X:18951163-18951163
9	PHKA2	NM_000292.3(PHKA2):c.394C>T (p.His132Tyr)	SNV	Pathogenic	10537	rs137852292	X:18969282-18969282	X:18951164-18951164
10	PHKA2	NM_000292.3(PHKA2):c.750_752del (p.Thr251del)	Deletion	Pathogenic	10539	rs587776733	X:18959759-18959761	X:18941641-18941643
11	PHKA2	NM_000292.3(PHKA2):c.565A>G (p.Lys189Glu)	SNV	Pathogenic	10541	rs137852295	X:18963249-18963249	X:18945131-18945131
12	PHKA2	NM_000292.3(PHKA2):c.557G>A (p.Arg186His)	SNV	Pathogenic	10535	rs137852290	X:18963257-18963257	X:18945139-18945139
13	PHKA2	NC_000023.11:g.(?_18929208)_(18983952_?)del	Deletion	Pathogenic	833058		X:18947326-19002070
14	PHKA2-AS1	NM_000292.3(PHKA2):c.3377C>A (p.Ser1126Ter)	SNV	Pathogenic	845671		X:18912482-18912482	X:18894364-18894364
15	PHKA2	NM_000292.3(PHKA2):c.1546C>T (p.Gln516Ter)	SNV	Pathogenic	649460	rs1601739229	X:18943809-18943809	X:18925691-18925691
16	PHKA2	NM_000292.3(PHKA2):c.3331C>T (p.Arg1111Ter)	SNV	Pathogenic	655569	rs1601689006	X:18913261-18913261	X:18895143-18895143
17	PHKA2	NM_000292.3(PHKA2):c.918+1G>A	SNV	Pathogenic	694638	rs1601760689	X:18958112-18958112	X:18939994-18939994
18	PHKA2	NM_000292.3(PHKA2):c.718-2A>G	SNV	Pathogenic	694641	rs1601763099	X:18959795-18959795	X:18941677-18941677
19	PHKA2	NM_000292.3(PHKA2):c.314_317del (p.Thr105fs)	Deletion	Pathogenic	803730	rs1601776523	X:18969359-18969362	X:18951241-18951244
20	PHKA2-AS1	NM_000292.3(PHKA2):c.3614C>T (p.Pro1205Leu)	SNV	Pathogenic	10531	rs137852288	X:18911697-18911697	X:18893579-18893579
21	PHKA2	NM_000292.3(PHKA2):c.556C>T (p.Arg186Cys)	SNV	Pathogenic	10538	rs137852294	X:18963258-18963258	X:18945140-18945140
22	PHKA2-AS1	NM_000292.3(PHKA2):c.3397C>T (p.Gln1133Ter)	SNV	Pathogenic	803725	rs1601687244	X:18912462-18912462	X:18894344-18894344
23	PHKA2	NM_000292.3(PHKA2):c.1138-2A>G	SNV	Pathogenic	803728	rs1601748216	X:18949868-18949868	X:18931750-18931750
24	PHKA2	NM_000292.3(PHKA2):c.93del (p.Leu32fs)	Deletion	Pathogenic	933869		X:18972516-18972516	X:18954398-18954398
25	PHKA2	NM_000292.3(PHKA2):c.1205G>A (p.Trp402Ter)	SNV	Pathogenic	947434		X:18949799-18949799	X:18931681-18931681
26	PHKA2-AS1	NM_000292.3(PHKA2):c.3341C>T (p.Thr1114Ile)	SNV	Pathogenic	10533	rs137852293	X:18912518-18912518	X:18894400-18894400
27	PHKA2	NM_000292.3(PHKA2):c.1794-8_1812del	Deletion	Pathogenic	526623	rs1556000892	X:18938301-18938327	X:18920183-18920209
28	PHKA2	NM_000292.3(PHKA2):c.1054C>T (p.Arg352Ter)	SNV	Pathogenic	526624	rs1556007472	X:18954256-18954256	X:18936138-18936138
29	PHKA2	NM_000292.3(PHKA2):c.2772_2782del (p.Met924fs)	Deletion	Pathogenic	568551	rs1569297379	X:18924637-18924647	X:18906519-18906529
30	PHKA2	NM_000292.3(PHKA2):c.2209C>T (p.Gln737Ter)	SNV	Pathogenic	575608	rs1569300538	X:18929007-18929007	X:18910889-18910889
31	PHKA2	NM_000292.3(PHKA2):c.2465del (p.Leu822fs)	Deletion	Pathogenic	578458	rs1569298646	X:18926070-18926070	X:18907952-18907952
32	PHKA2	NM_000292.3(PHKA2):c.2268dup (p.Asp757Ter)	Duplication	Pathogenic	694636	rs1601714299	X:18927010-18927011	X:18908892-18908893
33	PHKA2	NM_000292.3(PHKA2):c.235C>T (p.Gln79Ter)	SNV	Pathogenic	807651	rs1601780766	X:18972374-18972374	X:18954256-18954256
34	PHKA2	NC_000023.11:g.(?_18920012)_(18920221_?)del	Deletion	Pathogenic	583617		X:18938130-18938339	X:18920012-18920221
35	PHKA2	NM_000292.3(PHKA2):c.884G>A (p.Arg295His)	SNV	Pathogenic	208676	rs797044877	X:18958147-18958147	X:18940029-18940029
36	PHKA2	NM_000292.3(PHKA2):c.133C>T (p.Arg45Trp)	SNV	Pathogenic/Likely pathogenic	644261	rs1601781031	X:18972476-18972476	X:18954358-18954358
37	PHKA2	NM_000292.3(PHKA2):c.128G>C (p.Trp43Ser)	SNV	Likely pathogenic	488576	rs1556016365	X:18972481-18972481	X:18954363-18954363
38	PHKA2	NC_000023.11:g.18895137dup	Duplication	Likely pathogenic	839048		X:18913254-18913255	X:18895136-18895137
39	PHKA2	NM_000292.3(PHKA2):c.2746C>T (p.Arg916Trp)	SNV	Likely pathogenic	593082	rs1569297427	X:18924673-18924673	X:18906555-18906555
40	PHKA2-AS1	NM_000292.3(PHKA2):c.3383T>C (p.Leu1128Pro)	SNV	Likely pathogenic	208738	rs797044921	X:18912476-18912476	X:18894358-18894358
41	PHKA2	NM_000292.3(PHKA2):c.405_419delinsTCCTGGCC (p.Asp136fs)	Indel	Likely pathogenic	694639	rs1601776276	X:18969257-18969271	X:18951139-18951153
42	PHKA2-AS1	NM_000292.3(PHKA2):c.3371_3377dup (p.Val1127fs)	Duplication	Likely pathogenic	858405		X:18912481-18912482	X:18894363-18894364
43	PHKA2-AS1	NM_000292.3(PHKA2):c.3424_3425insT (p.Glu1142fs)	Insertion	Likely pathogenic	940284		X:18912434-18912435	X:18894316-18894317
44	PHKA2	NM_000292.3(PHKA2):c.2597+1G>A	SNV	Likely pathogenic	566477	rs1210626722	X:18925135-18925135	X:18907017-18907017
45	PHKA2	NM_000292.3(PHKA2):c.-9_2del (p.Met1fs)	Deletion	Likely pathogenic	567305	rs1569344469	X:19002049-19002059	X:18983931-18983941
46	PHKA2-AS1	NM_000292.3(PHKA2):c.3341C>T (p.Thr1114Ile)	SNV	Likely pathogenic	10533	rs137852293	X:18912518-18912518	X:18894400-18894400
47	PHKA2	NM_000292.3(PHKA2):c.1714+1G>A	SNV	Likely pathogenic	526620	rs1556002344	X:18942498-18942498	X:18924380-18924380
48	PHKA2	NM_000292.3(PHKA2):c.3336+2T>A	SNV	Likely pathogenic	526621	rs1555988479	X:18913254-18913254	X:18895136-18895136
49	PHKA2	NM_000292.3(PHKA2):c.285+2_285+5del	Deletion	Likely pathogenic	937363		X:18970607-18970610	X:18952489-18952492
50	PHKA2	NM_000292.3(PHKA2):c.3283-1G>C	SNV	Likely pathogenic	940531		X:18913310-18913310	X:18895192-18895192
51	PHKA2	NM_000292.3(PHKA2):c.884G>T (p.Arg295Leu)	SNV	Likely pathogenic	803729	rs797044877	X:18958147-18958147	X:18940029-18940029
52	PHKA2	NM_000292.3(PHKA2):c.556C>T (p.Arg186Cys)	SNV	Likely pathogenic	10538	rs137852294	X:18963258-18963258	X:18945140-18945140
53	PHKA2	NM_000292.3(PHKA2):c.1245G>T (p.Glu415Asp)	SNV	Likely pathogenic	694640	rs1601747985	X:18949759-18949759	X:18931641-18931641
54	PHKA2	NM_000292.3(PHKA2):c.2518-1G>A	SNV	Likely pathogenic	851319		X:18925216-18925216	X:18907098-18907098
55	PHKA2-AS1	NM_000292.3(PHKA2):c.3644_3646dup (p.Thr1216_Arg1217insIle)	Duplication	Likely pathogenic	841087		X:18911664-18911665	X:18893546-18893547
56	PHKA2	NM_000292.3(PHKA2):c.1042-1G>A	SNV	Likely pathogenic	841380		X:18954269-18954269	X:18936151-18936151
57	PHKA2	NM_000292.3(PHKA2):c.557G>A (p.Arg186His)	SNV	Likely pathogenic	10535	rs137852290	X:18963257-18963257	X:18945139-18945139
58	PHKA2	NM_000292.3(PHKA2):c.883C>T (p.Arg295Cys)	SNV	Likely pathogenic	208493	rs797045008	X:18958148-18958148	X:18940030-18940030
59	PHKA2	NM_000292.3(PHKA2):c.415T>C (p.Ser139Pro)	SNV	Likely pathogenic	522501	rs1556014969	X:18969261-18969261	X:18951143-18951143
60	PHKA2	NM_000292.3(PHKA2):c.3064T>A (p.Ser1022Thr)	SNV	Uncertain significance	522762	rs773766679	X:18917338-18917338	X:18899220-18899220
61	PHKA2-AS1	NM_000292.3(PHKA2):c.3590G>T (p.Cys1197Phe)	SNV	Uncertain significance	634545	rs1569286164	X:18911721-18911721	X:18893603-18893603
62	PHKA2	NM_000292.3(PHKA2):c.1576G>A (p.Asp526Asn)	SNV	Uncertain significance	566810	rs778051353	X:18942637-18942637	X:18924519-18924519
63	PHKA2	NM_000292.3(PHKA2):c.1724G>A (p.Gly575Asp)	SNV	Uncertain significance	851304		X:18942243-18942243	X:18924125-18924125
64	PHKA2	NM_000292.3(PHKA2):c.1618G>A (p.Val540Met)	SNV	Uncertain significance	638443	rs368594655	X:18942595-18942595	X:18924477-18924477
65	PHKA2	NM_000292.3(PHKA2):c.977G>A (p.Cys326Tyr)	SNV	Uncertain significance	643025	rs1601758342	X:18956809-18956809	X:18938691-18938691
66	PHKA2	NM_000292.3(PHKA2):c.3028A>G (p.Met1010Val)	SNV	Uncertain significance	663390	rs1601700586	X:18918817-18918817	X:18900699-18900699
67	PHKA2-AS1	NM_000292.3(PHKA2):c.3629G>A (p.Gly1210Glu)	SNV	Uncertain significance	664908	rs1601685358	X:18911682-18911682	X:18893564-18893564
68	PHKA2-AS1	NM_000292.3(PHKA2):c.3628G>A (p.Gly1210Arg)	SNV	Uncertain significance	694637	rs1601685360	X:18911683-18911683	X:18893565-18893565
69	PHKA2	NM_000292.3(PHKA2):c.346T>A (p.Tyr116Asn)	SNV	Uncertain significance	651936	rs1601776489	X:18969330-18969330	X:18951212-18951212
70	PHKA2	NM_000292.3(PHKA2):c.134G>A (p.Arg45Gln)	SNV	Uncertain significance	653226	rs1601781024	X:18972475-18972475	X:18954357-18954357
71	PHKA2	NM_000292.3(PHKA2):c.2971G>A (p.Gly991Arg)	SNV	Uncertain significance	654000	rs750628677	X:18919659-18919659	X:18901541-18901541
72	PHKA2	NM_000292.3(PHKA2):c.721A>G (p.Ile241Val)	SNV	Uncertain significance	655014	rs367696431	X:18959790-18959790	X:18941672-18941672
73	PHKA2	NM_000292.3(PHKA2):c.2785G>C (p.Ala929Pro)	SNV	Uncertain significance	803726	rs1324893950	X:18924634-18924634	X:18906516-18906516
74	PHKA2	NM_000292.3(PHKA2):c.2735T>C (p.Met912Thr)	SNV	Uncertain significance	803727	rs1158193880	X:18924684-18924684	X:18906566-18906566
75	PHKA2	NM_000292.3(PHKA2):c.1493C>T (p.Pro498Leu)	SNV	Uncertain significance	526622	rs199792389	X:18943862-18943862	X:18925744-18925744
76	PHKA2	NM_000292.3(PHKA2):c.2471G>C (p.Arg824Pro)	SNV	Uncertain significance	570424	rs1569298640	X:18926064-18926064	X:18907946-18907946
77	PHKA2	NM_000292.3(PHKA2):c.1099C>T (p.Arg367Cys)	SNV	Uncertain significance	948885		X:18954211-18954211	X:18936093-18936093
78	PHKA2	NM_000292.3(PHKA2):c.2381A>G (p.Asn794Ser)	SNV	Uncertain significance	952021		X:18926154-18926154	X:18908036-18908036
79	PHKA2	NM_000292.3(PHKA2):c.2686G>T (p.Val896Phe)	SNV	Uncertain significance	961577		X:18924733-18924733	X:18906615-18906615
80	PHKA2	NM_000292.3(PHKA2):c.1964-3C>T	SNV	Uncertain significance	966696		X:18936975-18936975	X:18918857-18918857
81	PHKA2-AS1	NM_000292.3(PHKA2):c.3708G>C (p.Ter1236Tyr)	SNV	Uncertain significance	943259		X:18911603-18911603	X:18893485-18893485
82	PHKA2	NM_000292.3(PHKA2):c.869G>A (p.Arg290His)	SNV	Uncertain significance	973283		X:18958162-18958162	X:18940044-18940044
83	PHKA2	NM_000292.3(PHKA2):c.2848G>A (p.Asp950Asn)	SNV	Uncertain significance	930538		X:18923936-18923936	X:18905818-18905818
84	PHKA2	NM_000292.3(PHKA2):c.749C>T (p.Ser250Leu)	SNV	Uncertain significance	930990		X:18959762-18959762	X:18941644-18941644
85	PHKA2	NM_000292.3(PHKA2):c.3210_3212del (p.Arg1072del)	Deletion	Uncertain significance	501100	rs1555989523	X:18915351-18915353	X:18897233-18897235
86	PHKA2	NM_000292.3(PHKA2):c.1490G>A (p.Arg497Gln)	SNV	Uncertain significance	871392		X:18943865-18943865	X:18925747-18925747
87	PHKA2	NM_000292.3(PHKA2):c.2597+2dup	Duplication	Uncertain significance	976362		X:18925133-18925134	X:18907015-18907016
88	PHKA2-AS1	NM_000292.3(PHKA2):c.3373G>A (p.Glu1125Lys)	SNV	Uncertain significance	501003	rs1555988071	X:18912486-18912486	X:18894368-18894368
89	PHKA2	NM_000292.3(PHKA2):c.339C>T (p.His113=)	SNV	Likely benign	515224	rs142799459	X:18969337-18969337	X:18951219-18951219
90	PHKA2	NM_000292.3(PHKA2):c.2365C>T (p.Pro789Ser)	SNV	Likely benign	445969	rs138395800	X:18926170-18926170	X:18908052-18908052
91	PHKA2	NM_000292.3(PHKA2):c.1670C>G (p.Thr557Arg)	SNV	Benign	714585	rs201183167	X:18942543-18942543	X:18924425-18924425
92	PHKA2	NM_000292.3(PHKA2):c.1896C>T (p.Ser632=)	SNV	Benign	736070	rs139852230	X:18938217-18938217	X:18920099-18920099
93	PHKA2	NM_000292.3(PHKA2):c.3069G>A (p.Val1023=)	SNV	Benign	778630	rs748792637	X:18917333-18917333	X:18899215-18899215
94	PHKA2	NM_000292.3(PHKA2):c.3243C>T (p.Pro1081=)	SNV	Benign	384586	rs150764699	X:18915320-18915320	X:18897202-18897202
95	PHKA2-AS1	NM_000292.3(PHKA2):c.3705A>G (p.Gln1235=)	SNV	Benign	255777	rs112249974	X:18911606-18911606	X:18893488-18893488
96	PHKA2	NM_000292.3(PHKA2):c.472A>G (p.Thr158Ala)	SNV	Benign	516929	rs142034171	X:18966927-18966927	X:18948809-18948809
97	PHKA2	NM_000292.3(PHKA2):c.3187C>A (p.Arg1063=)	SNV	Benign	384861	rs139136352	X:18915376-18915376	X:18897258-18897258
98	PHKA2	NM_000292.3(PHKA2):c.1964-7A>G	SNV	Benign	387909	rs376658808	X:18936979-18936979	X:18918861-18918861
99	PHKA2	NM_000292.3(PHKA2):c.849T>A (p.Ile283=)	SNV	Benign	255779	rs61733284	X:18959662-18959662	X:18941544-18941544
100	PHKA2	NM_000292.3(PHKA2):c.963C>T (p.Phe321=)	SNV	Benign	384572	rs35010660	X:18956823-18956823	X:18938705-18938705
101	PHKA2	NM_000292.3(PHKA2):c.2077A>G (p.Ile693Val)	SNV	Benign	255771	rs143732206	X:18936859-18936859	X:18918741-18918741
102	PHKA2	NM_000292.3(PHKA2):c.1246G>A (p.Gly416Arg)	SNV	Benign	506571	rs16980929	X:18947424-18947424	X:18929306-18929306
103	PHKA2	NM_000292.3(PHKA2):c.742A>C (p.Arg248=)	SNV	Benign	198712	rs149219369	X:18959769-18959769	X:18941651-18941651
104	PHKA2	NM_000292.3(PHKA2):c.718-3C>T	SNV	Benign	255778	rs140662042	X:18959796-18959796	X:18941678-18941678
105	PHKA2	NM_000292.3(PHKA2):c.112G>C (p.Glu38Gln)	SNV	Benign	255768	rs17313469	X:18972497-18972497	X:18954379-18954379
106	PHKA2	NM_000292.3(PHKA2):c.2532G>A (p.Leu844=)	SNV	Benign	255774	rs61729452	X:18925201-18925201	X:18907083-18907083
107	PHKA2	NM_000292.3(PHKA2):c.1398G>A (p.Ala466=)	SNV	Benign	390283	rs146631734	X:18944632-18944632	X:18926514-18926514
108	PHKA2	NM_000292.3(PHKA2):c.1952C>A (p.Thr651Asn)	SNV	Benign	255770	rs149991825	X:18938161-18938161	X:18920043-18920043
109	PHKA2	NM_000292.3(PHKA2):c.2436G>A (p.Gly812=)	SNV	Benign	255773	rs61733281	X:18926099-18926099	X:18907981-18907981

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

⁷³ (showing 17, show less)

#	Symbol	AA change	Variation ID	SNP ID
1	PHKA2	p.His132Pro	VAR_006177	rs137852291
2	PHKA2	p.His132Tyr	VAR_006178	rs137852292
3	PHKA2	p.Arg186Cys	VAR_006180	rs137852294
4	PHKA2	p.Arg186His	VAR_006181	rs137852290
5	PHKA2	p.Asp299Gly	VAR_006183	rs137852289
6	PHKA2	p.Thr1114Ile	VAR_006185	rs137852293
7	PHKA2	p.Pro1205Leu	VAR_006186	rs137852288
8	PHKA2	p.Lys189Glu	VAR_012269	rs137852295
9	PHKA2	p.Gly193Val	VAR_012271
10	PHKA2	p.Arg295His	VAR_012272	rs797044877
11	PHKA2	p.Pro399Ser	VAR_012273
12	PHKA2	p.Glu1125Lys	VAR_012276	rs155598807
13	PHKA2	p.Gly1207Trp	VAR_012277
14	PHKA2	p.Pro498Leu	VAR_062394	rs199792389
15	PHKA2	p.Pro869Arg	VAR_062395	rs777137574
16	PHKA2	p.Arg916Trp	VAR_062396	rs156929742
17	PHKA2	p.Met1113Ile	VAR_062398

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Expression for Glycogen Storage Disease Ixa1

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Glycogen Storage Disease Ixa1 (GSD9A1)

Aliases & Classifications for Glycogen Storage Disease Ixa1

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Expression for Glycogen Storage Disease Ixa1

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GO Terms for Glycogen Storage Disease Ixa1

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