GSD9D
MCID: GLY098
MIFTS: 45

Glycogen Storage Disease, Type Ixd (GSD9D)

Categories: Blood diseases, Cardiovascular diseases, Genetic diseases, Liver diseases, Metabolic diseases, Muscle diseases, Nephrological diseases, Neuronal diseases, Rare diseases, Respiratory 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 70
Glycogen Storage Disease Ixd 12 72 29 6 15
Muscle Phosphorylase Kinase Deficiency 57 12 72
Gsd Ixd 57 12 72
Gsd9d 57 12 72
Glycogen Storage Disease Due to Muscle Phosphorylase Kinase Deficiency 12 58
Glycogenosis Due to Muscle Phosphorylase Kinase Deficiency 12 58
Gsd Due to Muscle Phosphorylase Kinase Deficiency 12 58
Glycogen Storage Disease Type Ixd 12 58
Glycogen Storage Disease Type Ixe 12 58
Glycogen Storage Disease Type 9d 12 58
Glycogen Storage Disease Type 9e 12 58
Glycogenosis Type Ixd 12 58
Glycogenosis Type Ixe 12 58
Glycogenosis Type 9d 12 58
Glycogenosis Type 9e 12 58
Muscle Glycogenosis 57 13
Gsd Type Ixd 12 58
Gsd Type Ixe 12 58
Gsd Type 9d 12 58
Gsd Type 9e 12 58
Storage Disease, Glycogen, Type Ixd 39
Glycogen Storage Disease, Type Ix 70
Muscle Glycogenosis, X-Linked 57
X-Linked Muscke Glycogenosis 12
X-Linked Muscle Glycogenosis 72
Glycogen Storage Disease 9d 72

Characteristics:

Orphanet epidemiological data:

58
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 (Updated 05-Apr-2021)
Miscellaneous:
variable age at onset (childhood to adult)
most patients have adult onset of symptoms

Inheritance:
x-linked recessive


HPO:

31
glycogen storage disease, type ixd:
Inheritance x-linked recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Inborn errors of metabolism


External Ids:

Disease Ontology 12 DOID:0111040
OMIM® 57 300559
MeSH 44 D006008
ICD10 32 E74.0
ICD10 via Orphanet 33 E74.0
UMLS via Orphanet 71 C1845151
Orphanet 58 ORPHA715
MedGen 41 C1845151
SNOMED-CT via HPO 68 26544005 267044007 74035001
UMLS 70 C0268147 C1845151

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) (Updated 05-Apr-2021)

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 Metabolism and Activation of cAMP-Dependent PKA. Affiliated tissues include 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 : 72 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.

Related Diseases for Glycogen Storage Disease, Type Ixd

Diseases in the Glycogen Storage Disease family:

Glycogen Storage Disease Ia Glycogen Storage Disease Ib
Glycogen Storage Disease Ic Glycogen Storage Disease Ii
Glycogen Storage Disease Iii Glycogen Storage Disease Iv
Glycogen Storage Disease V Glycogen Storage Disease Vi
Glycogen Storage Disease Vii Glycogen Storage Disease X
Glycogen Storage Disease Ixb Glycogen Storage Disease, Type Ixd
Glycogen Storage Disease Xii Glycogen Storage Disease Xiii
Glycogen Storage Disease Ixc Glycogen Storage Disease Xv
Glycogen Storage Disease Ix Glycogen Storage Disease Ixa
Glycogen Storage Disease Viii Glycogen Storage Disease Type 0

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

(show all 26)
# Related Disease Score Top Affiliating Genes
1 phosphorylase kinase deficiency 31.0 PHKG2 PHKG1 PHKB PHKA2 PHKA1
2 glycogen storage disease ixb 30.4 PYGL PHKG2 PHKG1 PHKB PHKA2 PHKA1
3 glycogen storage disease v 29.2 PYGL PHKA1 AGL
4 glycogen storage disease 28.1 PYGL PHKG2 PHKB PHKA2 PHKA1 CP
5 glycogen storage disease ixa1 11.0
6 andersen cardiodysrhythmic periodic paralysis 10.3
7 periodic paralysis 10.3
8 myopathy 10.3
9 myoglobinuria 10.1
10 hypotonia 10.0
11 glycogen storage disease viii 9.9 PHKA2 PHKA1
12 glycogen storage disease ii 9.9
13 myasthenia gravis 9.9
14 batten-turner congenital myopathy 9.9
15 congenital disorder of glycosylation, type it 9.9
16 mitochondrial dna depletion syndrome 9.9
17 liver disease 9.9
18 muscular dystrophy 9.9
19 congenital disorders of n-linked glycosylation and multiple pathway 9.9
20 splenomegaly 9.9
21 glycogen storage disease due to liver phosphorylase kinase deficiency 9.7 PHKG2 PHKA2
22 glycogen storage disease vi 9.6 PYGL AGL
23 carbohydrate metabolic disorder 9.6 PHKA2 AGL
24 glycogen storage disease ia 9.4 PHKG2 PHKA2 AGL
25 glycogen storage disease ixa 9.2 PYGL PHKG2 PHKB PHKA2 PHKA1
26 glycogen storage disease ix 9.0 PYGL PHKG2 PHKG1 PHKB PHKA2 PHKA1

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:

31 (show all 7)
# Description HPO Frequency HPO Source Accession
1 muscle weakness 31 HP:0001324
2 skeletal muscle atrophy 31 HP:0003202
3 elevated serum creatine kinase 31 HP:0003236
4 exercise-induced myalgia 31 HP:0003738
5 exercise intolerance 31 HP:0003546
6 exercise-induced myoglobinuria 31 HP:0008305
7 exercise-induced muscle stiffness 31 HP:0008967

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
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 (Updated 05-Apr-2021)

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 (show all 27)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00221-A-1 10.52 PHKA2 PHKG2
2 Decreased viability GR00221-A-2 10.52 PHKA2 PHKB PHKG1 PHKA1 PHKG2
3 Decreased viability GR00221-A-3 10.52 PHKA2 PHKB PHKG1 PHKA1
4 Decreased viability GR00221-A-4 10.52 PHKA2 PHKB PHKG1
5 Decreased viability GR00342-S-1 10.52 PHKA2
6 Decreased viability GR00342-S-2 10.52 PHKA2
7 Decreased viability GR00342-S-3 10.52 PHKA2
8 Decreased viability GR00402-S-2 10.52 PHKG2
9 Increased shRNA abundance (Z-score > 2) GR00366-A-112 9.89 PHKA1
10 Increased shRNA abundance (Z-score > 2) GR00366-A-119 9.89 PHKG2
11 Increased shRNA abundance (Z-score > 2) GR00366-A-130 9.89 PHKA1
12 Increased shRNA abundance (Z-score > 2) GR00366-A-139 9.89 PHKA1
13 Increased shRNA abundance (Z-score > 2) GR00366-A-145 9.89 PHKG2
14 Increased shRNA abundance (Z-score > 2) GR00366-A-166 9.89 PHKG2
15 Increased shRNA abundance (Z-score > 2) GR00366-A-176 9.89 PHKA1
16 Increased shRNA abundance (Z-score > 2) GR00366-A-3 9.89 PHKB
17 Increased shRNA abundance (Z-score > 2) GR00366-A-33 9.89 PHKB
18 Increased shRNA abundance (Z-score > 2) GR00366-A-4 9.89 PHKA1
19 Increased shRNA abundance (Z-score > 2) GR00366-A-46 9.89 PHKA1
20 Increased shRNA abundance (Z-score > 2) GR00366-A-50 9.89 PHKG2
21 Increased shRNA abundance (Z-score > 2) GR00366-A-54 9.89 PHKB
22 Increased shRNA abundance (Z-score > 2) GR00366-A-60 9.89 PHKB
23 Increased shRNA abundance (Z-score > 2) GR00366-A-85 9.89 PHKB
24 Increased shRNA abundance (Z-score > 2) GR00366-A-89 9.89 PHKB
25 Increased shRNA abundance (Z-score > 2) GR00366-A-99 9.89 PHKG2
26 Decreased human cytomegalovirus (HCMV) strain AD169 replication GR00248-A 8.96 PHKG2
27 Upregulation of Wnt/beta-catenin pathway after WNT3A stimulation GR00016-A 8.92 PHKA1 PHKA2 PHKB PYGL

Drugs & Therapeutics for Glycogen Storage Disease, Type Ixd

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Clinical and Molecular Evaluations in Glycogen Storage Disease Type IX Recruiting NCT04454216

Search 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:

40
Skeletal Muscle

Publications for Glycogen Storage Disease, Type Ixd

Articles related to Glycogen Storage Disease, Type Ixd:

(show all 11)
# Title Authors PMID Year
1
Muscle phosphorylase kinase deficiency: a neutral metabolic variant or a disease? 6 57
22238410 2012
2
Is muscle glycogenolysis impaired in X-linked phosphorylase b kinase deficiency? 6 57
18401027 2008
3
Myopathy and phosphorylase kinase deficiency caused by a mutation in the PHKA1 gene. 57 6
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. 57 6
12825073 2003
5
A splice junction mutation in the alpha(M) gene of phosphorylase kinase in a patient with myopathy. 6 57
9731190 1998
6
Human muscle glycogenosis due to phosphorylase kinase deficiency associated with a nonsense mutation in the muscle isoform of the alpha subunit. 57 6
7874115 1994
7
Clinical and biochemical features of 10 adult patients with muscle phosphorylase kinase deficiency. 6 57
8145916 1994
8
Adult phosphorylase b kinase deficiency. 6 57
2252364 1990
9
Phosphorylase kinase deficiency in I-strain mice is associated with a frameshift mutation in the alpha subunit muscle isoform. 57
8298647 1993
10
Adult muscle phosphorylase "b" kinase deficiency. 57
3083284 1986
11
An unusual case of recurrent episodes of muscle weakness: Co-occurrence of Andersen-Tawil syndrome and glycogen storage disease type IXd. 61
32660786 2020

Variations for Glycogen Storage Disease, Type Ixd

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

6 (show top 50) (show all 86)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PHKA1 NM_002637.4(PHKA1):c.3334G>T (p.Glu1112Ter) SNV Pathogenic 9923 rs137852546 GRCh37: X:71802412-71802412
GRCh38: X:72582562-72582562
2 PHKA1 PHKA1, IVSL, G-C, +1 SNV Pathogenic 9924 GRCh37:
GRCh38:
3 PHKA1 NM_002637.4(PHKA1):c.896A>T (p.Asp299Val) SNV Pathogenic 9925 rs137852547 GRCh37: X:71877460-71877460
GRCh38: X:72657610-72657610
4 PHKA1 NM_002637.4(PHKA1):c.695del (p.Ala232fs) Deletion Pathogenic 9926 rs1603266754 GRCh37: X:71887247-71887247
GRCh38: X:72667397-72667397
5 PHKA1 NM_002637.4(PHKA1):c.667G>A (p.Gly223Arg) SNV Pathogenic 9927 rs137852548 GRCh37: X:71887275-71887275
GRCh38: X:72667425-72667425
6 PHKA1 NM_002637.4(PHKA1):c.892C>T (p.Arg298Ter) SNV Pathogenic 578746 rs1256371424 GRCh37: X:71877464-71877464
GRCh38: X:72657614-72657614
7 PHKA1 GRCh37/hg19 Xq13.2(chrX:71801020-71804146) copy number loss Pathogenic 625792 GRCh37: X:71801020-71804146
GRCh38:
8 PHKA1 NC_000023.11:g.(?_72644342)_(72676170_?)del Deletion Pathogenic 832096 GRCh37: X:71864192-71896020
GRCh38:
9 PHKA1 NM_002637.4(PHKA1):c.718-1G>A SNV Pathogenic 998246 GRCh37: X:71886148-71886148
GRCh38: X:72666298-72666298
10 PHKA1 NM_002637.4(PHKA1):c.2603_2604del (p.Ser868fs) Microsatellite Pathogenic 1033522 GRCh37: X:71829476-71829477
GRCh38: X:72609626-72609627
11 PHKA1 NM_002637.4(PHKA1):c.2527-1G>T SNV Likely pathogenic 653856 rs1556257317 GRCh37: X:71829554-71829554
GRCh38: X:72609704-72609704
12 PHKA1 NM_002637.4(PHKA1):c.678_684del (p.Val227fs) Deletion Likely pathogenic 931918 GRCh37: X:71887258-71887264
GRCh38: X:72667408-72667414
13 PHKA1 NM_002637.4(PHKA1):c.2179C>T (p.Arg727Trp) SNV Conflicting interpretations of pathogenicity 384382 rs151279562 GRCh37: X:71839114-71839114
GRCh38: X:72619264-72619264
14 PHKA1 NM_002637.4(PHKA1):c.3511G>A (p.Ala1171Thr) SNV Conflicting interpretations of pathogenicity 368644 rs144813238 GRCh37: X:71801013-71801013
GRCh38: X:72581163-72581163
15 PHKA1 NM_002637.4(PHKA1):c.868C>T (p.Arg290Cys) SNV Conflicting interpretations of pathogenicity 368649 rs138752449 GRCh37: X:71877488-71877488
GRCh38: X:72657638-72657638
16 PHKA1 NM_002637.4(PHKA1):c.3364G>C (p.Glu1122Gln) SNV Conflicting interpretations of pathogenicity 368646 rs202007590 GRCh37: X:71802382-71802382
GRCh38: X:72582532-72582532
17 PHKA1 NM_002637.4(PHKA1):c.3257C>A (p.Ser1086Tyr) SNV Uncertain significance 658545 rs375128462 GRCh37: X:71804139-71804139
GRCh38: X:72584289-72584289
18 PHKA1 NM_002637.4(PHKA1):c.2715G>A (p.Met905Ile) SNV Uncertain significance 661959 rs1603254167 GRCh37: X:71825221-71825221
GRCh38: X:72605371-72605371
19 PHKA1 NM_002637.4(PHKA1):c.2063G>A (p.Arg688Gln) SNV Uncertain significance 634584 rs201234013 GRCh37: X:71840649-71840649
GRCh38: X:72620799-72620799
20 PHKA1 NM_002637.4(PHKA1):c.29G>A (p.Arg10Gln) SNV Uncertain significance 653798 rs1603278200 GRCh37: X:71933700-71933700
GRCh38: X:72713852-72713852
21 PHKA1 NM_002637.4(PHKA1):c.1592A>T (p.Tyr531Phe) SNV Uncertain significance 840990 GRCh37: X:71855127-71855127
GRCh38: X:72635277-72635277
22 PHKA1 NM_002637.4(PHKA1):c.*1797A>G SNV Uncertain significance 912523 GRCh37: X:71799055-71799055
GRCh38: X:72579205-72579205
23 PHKA1 NM_002637.4(PHKA1):c.1748T>C (p.Leu583Pro) SNV Uncertain significance 912576 GRCh37: X:71846866-71846866
GRCh38: X:72627016-72627016
24 PHKA1 NM_002637.4(PHKA1):c.1698C>A (p.Ile566=) SNV Uncertain significance 912577 GRCh37: X:71855021-71855021
GRCh38: X:72635171-72635171
25 PHKA1 NM_002637.4(PHKA1):c.1318G>A (p.Val440Ile) SNV Uncertain significance 912578 GRCh37: X:71870246-71870246
GRCh38: X:72650396-72650396
26 PHKA1 NM_002637.4(PHKA1):c.*772C>T SNV Uncertain significance 913634 GRCh37: X:71800080-71800080
GRCh38: X:72580230-72580230
27 PHKA1 NM_002637.4(PHKA1):c.*503C>T SNV Uncertain significance 913635 GRCh37: X:71800349-71800349
GRCh38: X:72580499-72580499
28 PHKA1 NM_002637.4(PHKA1):c.*553C>T SNV Uncertain significance 368639 rs782055740 GRCh37: X:71800299-71800299
GRCh38: X:72580449-72580449
29 PHKA1 NM_002637.4(PHKA1):c.*1151C>T SNV Uncertain significance 368636 rs782605900 GRCh37: X:71799701-71799701
GRCh38: X:72579851-72579851
30 PHKA1 NM_002637.4(PHKA1):c.*1303T>C SNV Uncertain significance 368631 rs782190105 GRCh37: X:71799549-71799549
GRCh38: X:72579699-72579699
31 PHKA1 NM_002637.4(PHKA1):c.*674A>C SNV Uncertain significance 368637 rs1028190311 GRCh37: X:71800178-71800178
GRCh38: X:72580328-72580328
32 PHKA1 NM_002637.4(PHKA1):c.*467T>C SNV Uncertain significance 368640 rs970811941 GRCh37: X:71800385-71800385
GRCh38: X:72580535-72580535
33 PHKA1 NM_002637.4(PHKA1):c.*1275A>G SNV Uncertain significance 368632 rs782306248 GRCh37: X:71799577-71799577
GRCh38: X:72579727-72579727
34 PHKA1 NM_002637.4(PHKA1):c.*1865G>T SNV Uncertain significance 368630 rs782659275 GRCh37: X:71798987-71798987
GRCh38: X:72579137-72579137
35 PHKA1 NM_002637.4(PHKA1):c.3631G>A (p.Val1211Met) SNV Uncertain significance 465084 rs1025423127 GRCh37: X:71800893-71800893
GRCh38: X:72581043-72581043
36 PHKA1 NM_002637.4(PHKA1):c.3068G>A (p.Ser1023Asn) SNV Uncertain significance 576515 rs782344973 GRCh37: X:71821845-71821845
GRCh38: X:72601995-72601995
37 PHKA1 NM_002637.4(PHKA1):c.1459+6_1459+8del Deletion Uncertain significance 510067 rs782679415 GRCh37: X:71864204-71864206
GRCh38: X:72644354-72644356
38 PHKA1 NM_002637.4(PHKA1):c.1714G>A (p.Asp572Asn) SNV Uncertain significance 952952 GRCh37: X:71855005-71855005
GRCh38: X:72635155-72635155
39 PHKA1 NM_002637.4(PHKA1):c.3443T>G (p.Ile1148Ser) SNV Uncertain significance 432361 rs782365144 GRCh37: X:71802303-71802303
GRCh38: X:72582453-72582453
40 PHKA1 NM_002637.4(PHKA1):c.742C>T (p.Arg248Cys) SNV Uncertain significance 934940 GRCh37: X:71886123-71886123
GRCh38: X:72666273-72666273
41 PHKA1 NM_002637.4(PHKA1):c.521C>G (p.Ala174Gly) SNV Uncertain significance 978224 GRCh37: X:71904364-71904364
GRCh38: X:72684514-72684514
42 PHKA1 NM_002637.4(PHKA1):c.2725C>G (p.Pro909Ala) SNV Uncertain significance 982992 GRCh37: X:71825211-71825211
GRCh38: X:72605361-72605361
43 PHKA1 NM_002637.4(PHKA1):c.*887A>G SNV Uncertain significance 912525 GRCh37: X:71799965-71799965
GRCh38: X:72580115-72580115
44 PHKA1 NM_002637.4(PHKA1):c.1136G>A (p.Arg379Lys) SNV Uncertain significance 913675 GRCh37: X:71873286-71873286
GRCh38: X:72653436-72653436
45 PHKA1 NM_002637.4(PHKA1):c.1067A>G (p.Glu356Gly) SNV Uncertain significance 913676 GRCh37: X:71873355-71873355
GRCh38: X:72653505-72653505
46 PHKA1 NM_002637.4(PHKA1):c.3611C>T (p.Ser1204Phe) SNV Uncertain significance 914030 GRCh37: X:71800913-71800913
GRCh38: X:72581063-72581063
47 PHKA1 NM_002637.4(PHKA1):c.3570C>T (p.Asp1190=) SNV Uncertain significance 914031 GRCh37: X:71800954-71800954
GRCh38: X:72581104-72581104
48 PHKA1 NM_002637.4(PHKA1):c.3529G>A (p.Ala1177Thr) SNV Uncertain significance 914032 GRCh37: X:71800995-71800995
GRCh38: X:72581145-72581145
49 PHKA1 NM_002637.4(PHKA1):c.3371G>A (p.Arg1124His) SNV Uncertain significance 914033 GRCh37: X:71802375-71802375
GRCh38: X:72582525-72582525
50 PHKA1 NM_002637.4(PHKA1):c.*2110A>G SNV Uncertain significance 915222 GRCh37: X:71798742-71798742
GRCh38: X:72578892-72578892

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

72
# Symbol AA change Variation ID SNP ID
1 PHKA1 p.Asp299Val VAR_020856 rs137852547

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:

(show all 11)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.69 PYGL PHKG2 PHKG1 PHKB PHKA2 PHKA1
2
Show member pathways
13.21 PYGL PHKG2 PHKG1 PHKB PHKA2 PHKA1
3
Show member pathways
12.65 PHKG2 PHKG1 PHKB PHKA2 PHKA1
4
Show member pathways
12.62 PYGL PHKG2 PHKG1 PHKB PHKA2 PHKA1
5
Show member pathways
12.55 PYGL PHKG2 PHKG1 PHKB PHKA2 PHKA1
6
Show member pathways
12.33 PYGL PHKG2 PHKG1 PHKB PHKA2 PHKA1
7
Show member pathways
12.23 PHKG2 PHKG1 PHKA2 PHKA1
8 12.1 PHKG2 PHKG1 PHKB PHKA2 PHKA1
9 11.57 PHKG2 PHKG1 PHKB
10 11.46 PYGL PHKG2 PHKG1 PHKB PHKA2 PHKA1
11 10.72 PYGL PHKG2 PHKG1 PHKB PHKA2 PHKA1

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 cytosol GO:0005829 9.5 PYGL PHKG2 PHKG1 PHKB PHKA2 PHKA1
2 phosphorylase kinase complex GO:0005964 9.02 PHKG2 PHKG1 PHKB PHKA2 PHKA1

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 9.77 PHKG2 PHKG1 PHKB PHKA2 PHKA1
2 carbohydrate metabolic process GO:0005975 9.7 PYGL PHKG2 PHKG1 PHKB PHKA2 PHKA1
3 generation of precursor metabolites and energy GO:0006091 9.56 PHKG2 PHKB PHKA2 PHKA1
4 glycogen biosynthetic process GO:0005978 9.5 PHKG2 PHKG1 AGL
5 glycogen catabolic process GO:0005980 9.5 PYGL PHKG2 PHKG1 PHKB PHKA2 PHKA1
6 glycogen metabolic process GO:0005977 9.17 PYGL PHKG2 PHKG1 PHKB PHKA2 PHKA1

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

# Name GO ID Score Top Affiliating Genes
1 catalytic activity GO:0003824 9.55 PYGL PHKB PHKA2 PHKA1 AGL
2 calmodulin binding GO:0005516 9.35 PHKG2 PHKG1 PHKB PHKA2 PHKA1
3 tau-protein kinase activity GO:0050321 9.26 PHKG2 PHKG1
4 phosphorylase kinase activity GO:0004689 8.92 PHKG2 PHKG1 PHKA2 PHKA1

Sources for Glycogen Storage Disease, Type Ixd

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....