MCID: MSC032
MIFTS: 18

Muscle Phosphorylase Kinase Deficiency malady

Genetic diseases (common) category

Summaries for Muscle Phosphorylase Kinase Deficiency

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34MalaCards
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MalaCards: Muscle Phosphorylase Kinase Deficiency is related to muscle glycogenosis and phosphorylase kinase deficiency. An important gene associated with Muscle Phosphorylase Kinase Deficiency is NEK3 (NIMA-related kinase 3). The compound calcium have been mentioned in the context of this disorder. Affiliated tissues include skeletal muscle and liver.

Aliases & Classifications for Muscle Phosphorylase Kinase Deficiency

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21GeneTests
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases (common)


Aliases & Descriptions:

muscle phosphorylase kinase deficiency 21


Related Diseases for Muscle Phosphorylase Kinase Deficiency

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18GeneCards, 19GeneDecks
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Diseases related to Muscle Phosphorylase Kinase Deficiency via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1muscle glycogenosis30.8PHKA1
2phosphorylase kinase deficiency10.6
3phosphorylase kinase deficiency of liver and muscle, autosomal recessive10.5
4glycogen storage disease10.0PHKA1, NEK3

Symptoms for Muscle Phosphorylase Kinase Deficiency

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Drugs & Therapeutics for Muscle Phosphorylase Kinase Deficiency

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Search CenterWatch for Muscle Phosphorylase Kinase Deficiency

Genetic Tests for Muscle Phosphorylase Kinase Deficiency

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21GeneTests
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Genetic tests related to Muscle Phosphorylase Kinase Deficiency:

id Genetic test Affiliating Genes
1 Muscle Phosphorylase Kinase Deficiency21

Anatomical Context for Muscle Phosphorylase Kinase Deficiency

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34MalaCards
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MalaCards organs/tissues related to Muscle Phosphorylase Kinase Deficiency:

34
Skeletal muscle, Liver

Animal Models for Muscle Phosphorylase Kinase Deficiency or affiliated genes

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Publications for Muscle Phosphorylase Kinase Deficiency

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53PubMed
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Articles related to Muscle Phosphorylase Kinase Deficiency:

idTitleAuthorsYear
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 Muscle Phosphorylase Kinase Deficiency

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Expression for genes affiliated with Muscle Phosphorylase Kinase Deficiency

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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Muscle Phosphorylase Kinase Deficiency

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Pathways for genes affiliated with Muscle Phosphorylase Kinase Deficiency

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Compounds for genes affiliated with Muscle Phosphorylase Kinase Deficiency

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46Novoseek, 52PharmGKB, 25HMDB, 12DrugBank
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Compounds related to Muscle Phosphorylase Kinase Deficiency according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1calcium46 52 25 1212.1PHKA1, NEK3

GO Terms for genes affiliated with Muscle Phosphorylase Kinase Deficiency

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17Gene Ontology
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Biological processes related to Muscle Phosphorylase Kinase Deficiency according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1protein phosphorylationGO:0064689.1PHKA1, NEK3

Products for genes affiliated with Muscle Phosphorylase Kinase Deficiency

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Muscle Phosphorylase Kinase Deficiency

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet