MCID: GLY098
MIFTS: 40

Glycogen Storage Disease, Type Ixd

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

Aliases & Classifications for Glycogen Storage Disease, Type Ixd

MalaCards integrated aliases for Glycogen Storage Disease, Type Ixd:

Name: Glycogen Storage Disease, Type Ixd 57 73
Glycogen Storage Disease Ixd 12 75 29 6
Muscle Phosphorylase Kinase Deficiency 57 12 75
Gsd Ixd 57 12 75
Gsd9d 57 12 75
Glycogen Storage Disease Due to Muscle Phosphorylase Kinase Deficiency 12 59
Glycogenosis Due to Muscle Phosphorylase Kinase Deficiency 12 59
Gsd Due to Muscle Phosphorylase Kinase Deficiency 12 59
Glycogen Storage Disease Type Ixd 12 59
Glycogen Storage Disease Type Ixe 12 59
Glycogen Storage Disease Type 9d 12 59
Glycogen Storage Disease Type 9e 12 59
Glycogenosis Type Ixd 12 59
Glycogenosis Type Ixe 12 59
Glycogenosis Type 9d 12 59
Glycogenosis Type 9e 12 59
Muscle Glycogenosis 57 13
Gsd Type Ixd 12 59
Gsd Type Ixe 12 59
Gsd Type 9d 12 59
Gsd Type 9e 12 59
Storage Disease, Glycogen, Type Ixd 40
Glycogen Storage Disease, Type Ix 73
Glycogen Storage Disease Type 9 76
Muscle Glycogenosis, X-Linked 57
X-Linked Muscke Glycogenosis 12
X-Linked Muscle Glycogenosis 75
Glycogen Storage Disease 9d 75

Characteristics:

Orphanet epidemiological data:

59
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:

57
Miscellaneous:
variable age at onset (childhood to adult)
most patients have adult onset of symptoms

Inheritance:
x-linked recessive


HPO:

32
glycogen storage disease, type ixd:
Inheritance x-linked recessive inheritance


Classifications:



External Ids:

OMIM 57 300559
Disease Ontology 12 DOID:0111040
ICD10 33 E74.0
Orphanet 59 ORPHA715
ICD10 via Orphanet 34 E74.0
UMLS via Orphanet 74 C1845151
MedGen 42 C1845151
MeSH 44 D006008
SNOMED-CT via HPO 69 26544005 74035001 267044007

Summaries for Glycogen Storage Disease, Type Ixd

OMIM : 57 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 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 : 75 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 : 76 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

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Glycogen Storage Disease, Type Ixd:

32 (show all 7)
# Description HPO Frequency HPO Source Accession
1 muscle weakness 32 HP:0001324
2 skeletal muscle atrophy 32 HP:0003202
3 elevated serum creatine phosphokinase 32 HP:0003236
4 exercise intolerance 32 HP:0003546
5 exercise-induced myalgia 32 HP:0003738
6 exercise-induced myoglobinuria 32 HP:0008305
7 exercise-induced muscle stiffness 32 HP:0008967

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:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00221-A-2 9.53 PHKG1 PHKA1
2 Decreased viability GR00221-A-3 9.53 PHKG1 PHKA1
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 PHKG1 PHKA1

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 29 PHKA1

Anatomical Context for Glycogen Storage Disease, Type Ixd

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

41
Liver, Skeletal Muscle

Publications for Glycogen Storage Disease, Type Ixd

Articles related to Glycogen Storage Disease, Type Ixd:

# Title Authors Year
1
Muscle phosphorylase kinase deficiency: a neutral metabolic variant or a disease? ( 22238410 )
2012
2
Clinical and biochemical features of 10 adult patients with muscle phosphorylase kinase deficiency. ( 8145916 )
1994
3
Glycogenosis due to liver and muscle phosphorylase kinase deficiency. ( 6938920 )
1981
4
The molecular basis of skeletal muscle phosphorylase kinase deficiency. ( 820556 )
1976
5
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:

75
# 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 12)
# 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.3631G> A (p.Val1211Met) single nucleotide variant Uncertain significance rs1025423127 GRCh38 Chromosome X, 72581043: 72581043
12 PHKA1 NM_002637.3(PHKA1): c.3631G> A (p.Val1211Met) single nucleotide variant Uncertain significance rs1025423127 GRCh37 Chromosome X, 71800893: 71800893

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
11.43 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 9.26 PHKA1 PHKG1
2 carbohydrate metabolic process GO:0005975 9.16 PHKA1 PHKG1
3 glycogen metabolic process GO:0005977 8.96 PHKA1 PHKG1
4 glycogen catabolic process GO:0005980 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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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