MCID: MSC032
MIFTS: 18

Muscle Phosphorylase Kinase Deficiency malady

Genetic diseases (common) category
Download this MalaCard

Summaries for Muscle Phosphorylase Kinase Deficiency

About this section


Fully expand this MalaCard
MalaCards based summary: 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

About this section

Muscle Phosphorylase Kinase Deficiency, Aliases & Descriptions:

Name: Muscle Phosphorylase Kinase Deficiency 20 62


Classifications:

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


Related Diseases for Muscle Phosphorylase Kinase Deficiency

About this section

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

idRelated DiseaseScoreTop Affiliating Genes
1muscle glycogenosis31.0PHKA1
2phosphorylase kinase deficiency10.6
3phosphorylase kinase deficiency of liver and muscle, autosomal recessive10.5
4glycogen storage disease9.9PHKA1, NEK3

Symptoms for Muscle Phosphorylase Kinase Deficiency

About this section

Drugs & Therapeutics for Muscle Phosphorylase Kinase Deficiency

About this section

Drug clinical trials:

Search ClinicalTrials for Muscle Phosphorylase Kinase Deficiency

Search NIH Clinical Center for Muscle Phosphorylase Kinase Deficiency

Genetic Tests for Muscle Phosphorylase Kinase Deficiency

About this section

Genetic tests related to Muscle Phosphorylase Kinase Deficiency:

id Genetic test Affiliating Genes
1 Muscle Phosphorylase Kinase Deficiency20

Anatomical Context for Muscle Phosphorylase Kinase Deficiency

About this section

MalaCards organs/tissues related to Muscle Phosphorylase Kinase Deficiency:

32
Skeletal muscle, Liver

Animal Models for Muscle Phosphorylase Kinase Deficiency or affiliated genes

About this section

Publications for Muscle Phosphorylase Kinase Deficiency

About this section

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

About this section

Expression for genes affiliated with Muscle Phosphorylase Kinase Deficiency

About this section
Expression patterns in normal tissues for genes affiliated with Muscle Phosphorylase Kinase Deficiency

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

Pathways for genes affiliated with Muscle Phosphorylase Kinase Deficiency

About this section

Compounds for genes affiliated with Muscle Phosphorylase Kinase Deficiency

About this section
Sources:
44Novoseek, 50PharmGKB, 24HMDB, 11DrugBank
See all sources

Compounds related to Muscle Phosphorylase Kinase Deficiency according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1calcium44 50 24 1112.1PHKA1, NEK3

GO Terms for genes affiliated with Muscle Phosphorylase Kinase Deficiency

About this section

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

About this section
  • Antibodies
  • Proteins
  • Lysates

Sources for Muscle Phosphorylase Kinase Deficiency

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet