GSD9D
MCID: GLY098
MIFTS: 41

Glycogen Storage Disease, Type Ixd (GSD9D)

Categories: Blood diseases, Cardiovascular diseases, Endocrine diseases, Gastrointestinal diseases, Genetic diseases, Liver diseases, Metabolic diseases, Muscle diseases, Nephrological diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Glycogen Storage Disease, Type Ixd

MalaCards integrated aliases for Glycogen Storage Disease, Type Ixd:

Name: Glycogen Storage Disease, Type Ixd 58 74
Glycogen Storage Disease Ixd 12 76 30 6 15
Muscle Phosphorylase Kinase Deficiency 58 12 76
Gsd Ixd 58 12 76
Gsd9d 58 12 76
Glycogen Storage Disease Due to Muscle Phosphorylase Kinase Deficiency 12 60
Glycogenosis Due to Muscle Phosphorylase Kinase Deficiency 12 60
Gsd Due to Muscle Phosphorylase Kinase Deficiency 12 60
Glycogen Storage Disease Type Ixd 12 60
Glycogen Storage Disease Type Ixe 12 60
Glycogen Storage Disease Type 9d 12 60
Glycogen Storage Disease Type 9e 12 60
Glycogenosis Type Ixd 12 60
Glycogenosis Type Ixe 12 60
Glycogenosis Type 9d 12 60
Glycogenosis Type 9e 12 60
Muscle Glycogenosis 58 13
Gsd Type Ixd 12 60
Gsd Type Ixe 12 60
Gsd Type 9d 12 60
Gsd Type 9e 12 60
Storage Disease, Glycogen, Type Ixd 41
Glycogen Storage Disease, Type Ix 74
Glycogen Storage Disease Type 9 77
Muscle Glycogenosis, X-Linked 58
X-Linked Muscke Glycogenosis 12
X-Linked Muscle Glycogenosis 76
Glycogen Storage Disease 9d 76

Characteristics:

Orphanet epidemiological data:

60
glycogen storage disease due to muscle phosphorylase kinase deficiency
Inheritance: Autosomal recessive,X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Adult; Age of death: normal life expectancy;

OMIM:

58
Miscellaneous:
variable age at onset (childhood to adult)
most patients have adult onset of symptoms

Inheritance:
x-linked recessive


HPO:

33
glycogen storage disease, type ixd:
Inheritance x-linked recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0111040
OMIM 58 300559
MeSH 45 D006008
ICD10 34 E74.0
ICD10 via Orphanet 35 E74.0
UMLS via Orphanet 75 C1845151
Orphanet 60 ORPHA715
MedGen 43 C1845151
SNOMED-CT via HPO 70 26544005 267044007 74035001

Summaries for Glycogen Storage Disease, Type Ixd

OMIM : 58 Glycogen storage disease type IXd is an X-linked recessive, relatively mild metabolic disorder characterized by variable exercise-induced muscle weakness or stiffness. Most patients have adult-onset of symptoms, and some can remain asymptomatic even in late adulthood. The phenotype is usually only apparent with intense exercise (summary by Preisler et al., 2012). (300559)

MalaCards based summary : Glycogen Storage Disease, Type Ixd, also known as glycogen storage disease ixd, is related to phosphorylase kinase deficiency and glycogen storage disease ixb, and has symptoms including muscle weakness and exercise-induced myalgia. An important gene associated with Glycogen Storage Disease, Type Ixd is PHKA1 (Phosphorylase Kinase Regulatory Subunit Alpha 1), and among its related pathways/superpathways are DAG and IP3 signaling and fMLP Pathway. Affiliated tissues include liver and skeletal muscle, and related phenotypes are muscle weakness and skeletal muscle atrophy

Disease Ontology : 12 A glycogen storage disease IX that is characterized by X-linked inheritance of variable exercise-induced muscle weakness or stiffness that has material basis in mutation in the PHKA1 gene on chromosome Xq13.

UniProtKB/Swiss-Prot : 76 Glycogen storage disease 9D: A metabolic disorder characterized by slowly progressive, predominantly distal muscle weakness and atrophy. Clinical features include exercise intolerance with early fatigability, pain, cramps and occasionally myoglobinuria.

Wikipedia : 77 Glycogen storage disease type VI (GSD VI) is a type of glycogen storage disease caused by a deficiency... more...

Related Diseases for Glycogen Storage Disease, Type Ixd

Graphical network of the top 20 diseases related to Glycogen Storage Disease, Type Ixd:



Diseases related to Glycogen Storage Disease, Type Ixd

Symptoms & Phenotypes for Glycogen Storage Disease, Type Ixd

Human phenotypes related to Glycogen Storage Disease, Type Ixd:

33 (show all 7)
# Description HPO Frequency HPO Source Accession
1 muscle weakness 33 HP:0001324
2 skeletal muscle atrophy 33 HP:0003202
3 exercise intolerance 33 HP:0003546
4 exercise-induced myalgia 33 HP:0003738
5 exercise-induced myoglobinuria 33 HP:0008305
6 elevated serum creatine kinase 33 HP:0003236
7 exercise-induced muscle stiffness 33 HP:0008967

Symptoms via clinical synopsis from OMIM:

58
Muscle Soft Tissue:
muscle weakness
exercise intolerance
muscle atrophy
muscle pain, exercise-induced
muscle stiffness, exercise-induced
more
Laboratory Abnormalities:
increased serum creatine kinase
myoglobinuria, exercise-induced

Clinical features from OMIM:

300559

UMLS symptoms related to Glycogen Storage Disease, Type Ixd:


muscle weakness, exercise-induced myalgia

GenomeRNAi Phenotypes related to Glycogen Storage Disease, Type Ixd according to GeneCards Suite gene sharing:

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00221-A-2 9.53 PHKA1 PHKG1
2 Decreased viability GR00221-A-3 9.53 PHKA1 PHKG1
3 Decreased viability GR00221-A-4 9.53 PHKG1
4 Decreased viability GR00342-S-3 9.53 PHKG1
5 Decreased viability GR00402-S-2 9.53 PHKA1 PHKG1

Drugs & Therapeutics for Glycogen Storage Disease, Type Ixd

Search Clinical Trials , NIH Clinical Center for Glycogen Storage Disease, Type Ixd

Genetic Tests for Glycogen Storage Disease, Type Ixd

Genetic tests related to Glycogen Storage Disease, Type Ixd:

# Genetic test Affiliating Genes
1 Glycogen Storage Disease Ixd 30 PHKA1

Anatomical Context for Glycogen Storage Disease, Type Ixd

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

42
Liver, Skeletal Muscle

Publications for Glycogen Storage Disease, Type Ixd

Articles related to Glycogen Storage Disease, Type Ixd:

(show all 11)
# Title Authors Year
1
Muscle phosphorylase kinase deficiency: a neutral metabolic variant or a disease? ( 22238410 )
2012
2
Is muscle glycogenolysis impaired in X-linked phosphorylase b kinase deficiency? ( 18401027 )
2008
3
Myopathy and phosphorylase kinase deficiency caused by a mutation in the PHKA1 gene. ( 15637709 )
2005
4
Muscle glycogenosis with low phosphorylase kinase activity: mutations in PHKA1, PHKG1 or six other candidate genes explain only a minority of cases. ( 12825073 )
2003
5
A splice junction mutation in the alpha(M) gene of phosphorylase kinase in a patient with myopathy. ( 9731190 )
1998
6
Human muscle glycogenosis due to phosphorylase kinase deficiency associated with a nonsense mutation in the muscle isoform of the alpha subunit. ( 7874115 )
1994
7
Clinical and biochemical features of 10 adult patients with muscle phosphorylase kinase deficiency. ( 8145916 )
1994
8
Adult phosphorylase b kinase deficiency. ( 2252364 )
1990
9
Glycogenosis due to liver and muscle phosphorylase kinase deficiency. ( 6938920 )
1981
10
The molecular basis of skeletal muscle phosphorylase kinase deficiency. ( 820556 )
1976
11
Skeletal muscle phosphorylase kinase deficiency: detection of a protein lacking any activity in ICR-IAn mice. ( 4198146 )
1973

Variations for Glycogen Storage Disease, Type Ixd

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

76
# Symbol AA change Variation ID SNP ID
1 PHKA1 p.Asp299Val VAR_020856 rs137852547

ClinVar genetic disease variations for Glycogen Storage Disease, Type Ixd:

6 (show all 19)
# Gene Variation Type Significance SNP ID Assembly Location
1 PHKA1 NM_002637.3(PHKA1): c.3334G> T (p.Glu1112Ter) single nucleotide variant Pathogenic rs137852546 GRCh37 Chromosome X, 71802412: 71802412
2 PHKA1 NM_002637.3(PHKA1): c.3334G> T (p.Glu1112Ter) single nucleotide variant Pathogenic rs137852546 GRCh38 Chromosome X, 72582562: 72582562
3 PHKA1 PHKA1, IVSL, G-C, +1 single nucleotide variant Pathogenic
4 PHKA1 NM_002637.3(PHKA1): c.896A> T (p.Asp299Val) single nucleotide variant Pathogenic rs137852547 GRCh37 Chromosome X, 71877460: 71877460
5 PHKA1 NM_002637.3(PHKA1): c.896A> T (p.Asp299Val) single nucleotide variant Pathogenic rs137852547 GRCh38 Chromosome X, 72657610: 72657610
6 PHKA1 PHKA1, 1-BP DEL, 695C deletion Pathogenic
7 PHKA1 NM_002637.3(PHKA1): c.667G> A (p.Gly223Arg) single nucleotide variant Pathogenic rs137852548 GRCh37 Chromosome X, 71887275: 71887275
8 PHKA1 NM_002637.3(PHKA1): c.667G> A (p.Gly223Arg) single nucleotide variant Pathogenic rs137852548 GRCh38 Chromosome X, 72667425: 72667425
9 PHKA1 NM_002637.3(PHKA1): c.429C> T (p.Leu143=) single nucleotide variant Benign/Likely benign rs138066694 GRCh37 Chromosome X, 71915583: 71915583
10 PHKA1 NM_002637.3(PHKA1): c.429C> T (p.Leu143=) single nucleotide variant Benign/Likely benign rs138066694 GRCh38 Chromosome X, 72695733: 72695733
11 PHKA1 NM_002637.3(PHKA1): c.3443T> G (p.Ile1148Ser) single nucleotide variant Uncertain significance rs782365144 GRCh37 Chromosome X, 71802303: 71802303
12 PHKA1 NM_002637.3(PHKA1): c.3443T> G (p.Ile1148Ser) single nucleotide variant Uncertain significance rs782365144 GRCh38 Chromosome X, 72582453: 72582453
13 PHKA1 NM_002637.3(PHKA1): c.3631G> A (p.Val1211Met) single nucleotide variant Uncertain significance rs1025423127 GRCh37 Chromosome X, 71800893: 71800893
14 PHKA1 NM_002637.3(PHKA1): c.3631G> A (p.Val1211Met) single nucleotide variant Uncertain significance rs1025423127 GRCh38 Chromosome X, 72581043: 72581043
15 PHKA1 NM_002637.3(PHKA1): c.3068G> A (p.Ser1023Asn) single nucleotide variant Uncertain significance GRCh37 Chromosome X, 71821845: 71821845
16 PHKA1 NM_002637.3(PHKA1): c.3068G> A (p.Ser1023Asn) single nucleotide variant Uncertain significance GRCh38 Chromosome X, 72601995: 72601995
17 PHKA1 NM_002637.3(PHKA1): c.892C> T (p.Arg298Ter) single nucleotide variant Pathogenic GRCh37 Chromosome X, 71877464: 71877464
18 PHKA1 NM_002637.3(PHKA1): c.892C> T (p.Arg298Ter) single nucleotide variant Pathogenic GRCh38 Chromosome X, 72657614: 72657614
19 PHKA1 GRCh37/hg19 Xq13.2(chrX: 71801020-71804146) copy number loss Pathogenic GRCh37 Chromosome X, 71801020: 71804146

Expression for Glycogen Storage Disease, Type Ixd

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

Pathways for Glycogen Storage Disease, Type Ixd

Pathways related to Glycogen Storage Disease, Type Ixd according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.37 PHKA1 PHKG1
2
Show member pathways
12.28 PHKA1 PHKG1
3
Show member pathways
12.18 PHKA1 PHKG1
4
Show member pathways
12.12 PHKA1 PHKG1
5
Show member pathways
11.9 PHKA1 PHKG1
6
Show member pathways
11.76 PHKA1 PHKG1
7
Show member pathways
11.44 PHKA1 PHKG1
8 10.97 PHKA1 PHKG1
9 10.18 PHKA1 PHKG1

GO Terms for Glycogen Storage Disease, Type Ixd

Cellular components related to Glycogen Storage Disease, Type Ixd according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 phosphorylase kinase complex GO:0005964 8.62 PHKA1 PHKG1

Biological processes related to Glycogen Storage Disease, Type Ixd according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein phosphorylation GO:0006468 9.16 PHKA1 PHKG1
2 carbohydrate metabolic process GO:0005975 8.96 PHKA1 PHKG1
3 glycogen metabolic process GO:0005977 8.62 PHKA1 PHKG1

Molecular functions related to Glycogen Storage Disease, Type Ixd according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 calmodulin binding GO:0005516 8.96 PHKA1 PHKG1
2 phosphorylase kinase activity GO:0004689 8.62 PHKA1 PHKG1

Sources for Glycogen Storage Disease, Type Ixd

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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