MCID: PHS018
MIFTS: 35

Phosphorylase Kinase Deficiency malady

Category: Genetic diseases (common)

Aliases & Classifications for Phosphorylase Kinase Deficiency

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Aliases & Descriptions for Phosphorylase Kinase Deficiency:

Name: Phosphorylase Kinase Deficiency 21 22 23
Phosphorylase B Kinase Deficiency 21 22 23
Glycogen Storage Disease Type Ix 21 22 23
Phk Deficiency 21 22 23
 
Gsdix 21 22 23
Gsd Ix 22 23
Deficiency of Phosphorylase Kinase 65
Glycogen Storage Disease, Type Ix 65

Classifications:



External Ids:

UMLS65 C0268147, C1291390

Summaries for Phosphorylase Kinase Deficiency

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Genetics Home Reference:23 Glycogen storage disease type IX (also known as GSD IX) is a condition caused by the inability to break down a complex sugar called glycogen. The different forms of the condition can affect glycogen breakdown in liver cells or muscle cells or sometimes both. A lack of glycogen breakdown interferes with the normal function of the affected tissue.

MalaCards based summary: Phosphorylase Kinase Deficiency, also known as phosphorylase b kinase deficiency, is related to phosphorylase kinase deficiency of liver and muscle, autosomal recessive and glycogen storage disease due to muscle phosphorylase kinase deficiency. An important gene associated with Phosphorylase Kinase Deficiency is PHKB (Phosphorylase Kinase Beta Subunit), and among its related pathways are Circadian rhythm and Metformin Pathway, Pharmacodynamics. Affiliated tissues include liver, skeletal muscle and lung.

GeneReviews summary for NBK55061

Related Diseases for Phosphorylase Kinase Deficiency

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Diseases related to Phosphorylase Kinase Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 71)
idRelated DiseaseScoreTop Affiliating Genes
1phosphorylase kinase deficiency of liver and muscle, autosomal recessive12.6
2glycogen storage disease due to muscle phosphorylase kinase deficiency12.6
3glycogen storage disease due to liver phosphorylase kinase deficiency12.6
4glycogen storage disease due to liver and muscle phosphorylase kinase deficiency12.6
5muscular phosphorylase kinase deficiency12.5
6phka2-related phosphorylase kinase deficiency12.5
7phka1-related phosphorylase kinase deficiency12.5
8phkb-related phosphorylase kinase deficiency12.5
9phkg2-related phosphorylase kinase deficiency12.5
10glycogen storage disease viii11.8
11muscle glycogenosis11.7
12glycogen storage disease of heart, lethal congenital11.5
13glycogen storage disease, type ixa111.5
14autoimmune autonomic ganglionopathy10.3
15systemic lupus erythematosus10.1
16breast cancer10.1
17leukemia10.1
18lupus erythematosus10.1
19dilated cardiomyopathy10.1
20renal cell carcinoma10.0
21aspergillosis10.0
22trichotillomania10.0
23acute leukemia10.0
24atherosclerosis10.0
25hepatitis10.0
26thalassemia10.0
27oculocutaneous albinism10.0
28phaeochromocytoma10.0
29specific language impairment10.0
30tonsillitis10.0
31mild pre-eclampsia10.0
32pre-eclampsia10.0
33pertussis10.0
34tetanus10.0
35diphtheria10.0
36esophagitis10.0
37allergic bronchopulmonary aspergillosis10.0
38cardiac sarcoidosis10.0
39eclampsia10.0
40polyneuropathy10.0
41leopard syndrome10.0
42prostatitis10.0
43melanoma10.0
44dermatitis10.0
45gallbladder cancer10.0
46liposarcoma10.0
47cavernous sinus thrombosis10.0
48retinitis10.0
49tinea capitis10.0
50middle ear disease10.0

Graphical network of the top 20 diseases related to Phosphorylase Kinase Deficiency:



Diseases related to phosphorylase kinase deficiency

Symptoms for Phosphorylase Kinase Deficiency

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Drugs & Therapeutics for Phosphorylase Kinase Deficiency

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Drugs for Phosphorylase Kinase Deficiency (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1Pharmaceutical Solutions7004

Interventional clinical trials:

idNameStatusNCT IDPhase
1Fat and Sugar Metabolism During Exercise in Patients With Metabolic MyopathyRecruitingNCT02635269

Search NIH Clinical Center for Phosphorylase Kinase Deficiency

Genetic Tests for Phosphorylase Kinase Deficiency

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Genetic tests related to Phosphorylase Kinase Deficiency:

id Genetic test Affiliating Genes
1 Phosphorylase Kinase Deficiency22

Anatomical Context for Phosphorylase Kinase Deficiency

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MalaCards organs/tissues related to Phosphorylase Kinase Deficiency:

33
Liver, Skeletal muscle, Lung, Testes, Neutrophil, Endothelial, T cells

Animal Models for Phosphorylase Kinase Deficiency or affiliated genes

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MGI Mouse Phenotypes related to Phosphorylase Kinase Deficiency:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes

Publications for Phosphorylase Kinase Deficiency

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Articles related to Phosphorylase Kinase Deficiency:

(show top 50)    (show all 58)
idTitleAuthorsYear
1
Tumor suppressor role of miR-133a in gastric cancer by repressing IGF1R. (25780292)
2015
2
Comment on "Does "difficult patient" status contribute to functional demedicalization? The case of borderline personality disorder". (26456503)
2015
3
Impact of human MLL/COMPASS and polycomb complexes on the DNA methylome. (25071008)
2014
4
MRI characteristics of cerebellar tubers and their longitudinal changes in children with tuberous sclerosis complex. (25200047)
2014
5
Rash and arthralgia caused by hepatitis E. (24290589)
2013
6
Identification of Tau and SOD1 gene mutation in a small Chinese Han pedigree of adult amyotrophic lateral sclerosis. (22853691)
2013
7
Systemic mastocytosis in children - therapeutic problems. (23988369)
2013
8
Hematological characterization of compound heterozygous hemoglobin Hope/E patients with and without alpha-thalassemia-1 SEA type deletion. (24273946)
2013
9
Targeted therapy for advanced Basal-cell carcinoma: vismodegib and beyond. (23888252)
2013
10
Essential but differential role of FOXL2wt and FOXL2C134W in GDF-9 stimulation of follistatin transcription in co-operation with Smad3 in the human granulosa cell line COV434. (23523567)
2013
11
Elevated Admission Blood Pressure and Stroke Severity in Acute Ischemic Stroke: The Bergen NORSTROKE Study. (24192488)
2013
12
The ciliopathy-associated protein homologs RPGRIP1 and RPGRIP1L are linked to cilium integrity through interaction with Nek4 serine/threonine kinase. (21685204)
2011
13
Treatment of canine fucosidosis by intracisternal enzyme infusion. (21575633)
2011
14
Hypocretin/orexin in arousal and stress. (19748490)
2010
15
Treatment of pityriasis rubra pilaris with ustekinumab. (20491761)
2010
16
Malignant myoepithelioma of soft tissue: a case report with cytogenetic findings. (18503832)
2008
17
Interferon gamma production in the course of Mycobacterium tuberculosis infection. (19218702)
2008
18
Synthesis of galactose-mimicking 1H-(1,2,3-triazol-1-yl)-mannosides as selective galectin-3 and 9N inhibitors. (17407769)
2007
19
Role of adiponectin in the regulation of carbohydrate and lipid metabolism. (17228091)
2006
20
Sinonasal undifferentiated carcinoma. (16462499)
2006
21
The surgical management of consecutive exotropia. (16814191)
2006
22
Elevated stearoyl-CoA desaturase-1 expression in skeletal muscle contributes to abnormal fatty acid partitioning in obese humans. (16213227)
2005
23
Hemolysis and methemoglobinemia secondary to rasburicase administration. (16204390)
2005
24
Anterior mediastinal nonseminomatous germ cell tumor with malignant transformation: a case report. (15590027)
2004
25
Deficient alpha smooth muscle actin expression as a cause of intestinal pseudo-obstruction: fact or fiction? (15509678)
2004
26
Changes in the number of HSF1 positive granules in the nucleus reflects heat shock semiquantitatively. (14643030)
2003
27
Tibial muscular dystrophy in a Belgian family. (12891679)
2003
28
Expression of cell-cycle regulatory proteins and their prognostic value in superficial low-grade urothelial cell carcinoma of the bladder. (12559081)
2003
29
Neither acute rejection nor immunosuppressant drug therapy (cyclosporine or tacrolimus) correlates with expression of either CD40 or CD154 on peripheral blood cells among human cardiac transplant patients. (12962873)
2003
30
A Ser752-->Pro substitution in the cytoplasmic domain of beta3 in a Glanzmann thrombasthenia variant fails to prevent interactions between the alphaIIbbeta3 integrin and the platelet granule pool of fibrinogen. (12199799)
2002
31
Experience with a large dose (500 mg) of intravenous iron dextran and iron saccharate in peritoneal dialysis patients. (11475345)
2001
32
Renovascular hypertension: the diagnosis and management of renal ischaemia. (10766526)
2000
33
Adenoviral Bak overexpression mediates caspase-dependent tumor killing. (10706081)
2000
34
Application of the gel test using and anti-IgA antiglobulin for the immunologic diagnosis of autoimmune hemolytic anemia with a negative direct Coombs test]. (10472686)
1999
35
Cerebrospinal fluid levels of MMP-2, 7, and 9 are elevated in association with human immunodeficiency virus dementia. (10482270)
1999
36
Molecular diagnosis of Apert syndrome in Chinese patients. (10910582)
1999
37
Cardiovascular consequences of obesity: role of leptin. (9493562)
1998
38
Expression of p53, p21 (Waf1/Cip1/Sdi1) and Fas antigen in collagen vascular and granulomatous lung diseases. (9817169)
1998
39
Endotoxin-induced adhesion of red blood cells to pulmonary artery endothelial cells. (8772524)
1996
40
Ipsilateral hypertropia after cataract surgery. (8637680)
1996
41
Collagen and stretch modulate autocrine secretion of insulin-like growth factor-1 and insulin-like growth factor binding proteins from differentiated skeletal muscle cells. (7530717)
1995
42
Alternatives in the management of aneurysmal bone cysts of the mandible. (7782182)
1995
43
Surfactant protein a promotes attachment of Mycobacterium tuberculosis to alveolar macrophages during infection with human immunodeficiency virus. (7761411)
1995
44
The diagnosis and treatment of discoid lupus erythematosus with oral manifestations only: a case report. (7994728)
1994
45
Campomelic dysplasia without overt campomelia. (8281284)
1993
46
Wee1(+)-like gene in human cells. (1840647)
1991
47
Amplification of T cell activation induced by CD73 (ecto-5' nucleotidase) engagement. (1838231)
1991
48
Alveolar soft-part sarcoma. A study of 13 typical examples and one with a histologically atypical component. (3967185)
1985
49
Automated cytochemical analysis of neutrophils from patients with Chediak-Higashi syndrome. (7077101)
1982
50
Ichthyosis in the SjAPgren-Larsson syndrome. (6179662)
1982

Variations for Phosphorylase Kinase Deficiency

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Expression for genes affiliated with Phosphorylase Kinase Deficiency

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Search GEO for disease gene expression data for Phosphorylase Kinase Deficiency.

Pathways for genes affiliated with Phosphorylase Kinase Deficiency

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Pathways related to Phosphorylase Kinase Deficiency according to GeneCards Suite gene sharing:

(show all 18)
idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
9.4PRKAA2, PRKAG2
29.4PRKAA2, PRKAG2
39.4PRKAA2, PRKAG2
49.4PRKAA2, PRKAG2
59.4PRKAA2, PRKAG2
69.4PRKAA2, PRKAG2
79.4PRKAA2, PRKAG2
89.2PHKB, PHKG1, PHKG2
9
Show member pathways
8.6PHKA1, PHKA2, PHKG1, PHKG2
108.3PHKA1, PHKA2, PHKB, PHKG1, PHKG2
118.3PHKA1, PHKA2, PHKB, PHKG1, PHKG2
12
Show member pathways
8.3PHKA1, PHKA2, PHKB, PHKG1, PHKG2
13
Show member pathways
8.3PHKA1, PHKA2, PHKB, PHKG1, PHKG2
14
Show member pathways
8.3PHKA1, PHKA2, PHKB, PHKG1, PHKG2
15
Show member pathways
8.3PHKA1, PHKA2, PHKB, PHKG1, PHKG2
16
Show member pathways
7.2PHKA1, PHKA2, PHKB, PHKG1, PHKG2, PRKAA2
17
Show member pathways
7.2PHKA1, PHKA2, PHKB, PHKG1, PHKG2, PRKAA2
187.2PHKA1, PHKA2, PHKB, PHKG1, PHKG2, PRKAA2

GO Terms for genes affiliated with Phosphorylase Kinase Deficiency

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Biological processes related to Phosphorylase Kinase Deficiency according to GeneCards Suite gene sharing:

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1regulation of fatty acid biosynthetic processGO:004230410.1PRKAA2, PRKAG2
2cell cycle arrestGO:00070509.9PRKAA2, PRKAG2
3glycogen catabolic processGO:00059809.9PHKA1, PHKA2
4regulation of signal transduction by p53 class mediatorGO:19017969.8PRKAA2, PRKAG2
5energy reserve metabolic processGO:00061129.7PRKAA2, PRKAG2
6generation of precursor metabolites and energyGO:00060919.3PHKA1, PHKA2, PHKB, PHKG2
7protein phosphorylationGO:00064688.6NEK3, PRKAA2, PRKAG2
8glucose metabolic processGO:00060068.0PHKA1, PHKA2, PHKB, PHKG1, PHKG2
9small molecule metabolic processGO:00442817.1PHKA1, PHKA2, PHKB, PHKG1, PHKG2, PRKAA2

Molecular functions related to Phosphorylase Kinase Deficiency according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1protein serine/threonine kinase activityGO:00046748.9PHKG1, PHKG2, PRKAA2

Sources for Phosphorylase Kinase Deficiency

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet