MCID: PHS016
MIFTS: 26

Phosphorylase Kinase Deficiency of Liver and Muscle, Autosomal Recessive malady

Neuronal diseases, Liver diseases, Metabolic diseases categories

Summaries for Phosphorylase Kinase Deficiency of Liver and Muscle, Autosomal...

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46OMIM, 32MalaCards
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MalaCards: Phosphorylase Kinase Deficiency of Liver and Muscle, Autosomal Recessive, also known as glycogen storage disease due to liver and muscle phosphorylase kinase deficiency, is related to glycogen storage disease and glycogen storage disease ii. An important gene associated with Phosphorylase Kinase Deficiency of Liver and Muscle, Autosomal Recessive is PHKB (phosphorylase kinase, beta). Affiliated tissues include liver.

Description from OMIM:46 261750

Aliases & Classifications for Phosphorylase Kinase Deficiency of Liver and Muscle, Autosomal...

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Sources:
46OMIM, 48Orphanet, 60UMLS, 26ICD10 via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Metabolic diseases
Anatomical: Neuronal diseases, Liver diseases


Characteristics (Orphanet epidemiological data):

48
glycogen storage disease due to liver and muscle phosphorylase kinase deficiency:
Inheritance: Autosomal recessive; Age of onset: Childhood; Age of death: Normal


Aliases & Descriptions:

phosphorylase kinase deficiency of liver and muscle, autosomal recessive 46
glycogen storage disease due to liver and muscle phosphorylase kinase deficiency 48
glycogenosis due to liver and muscle phosphorylase kinase deficiency 48
gsd due to liver and muscle phosphorylase kinase deficiency 48
glycogen storage disease, type ixb 60
glycogen storage disease type ixb 48
glycogen storage disease, type ix 60
glycogen storage disease type 9b 48
glycogen storage disease 60
glycogenosis type ixb 48
glycogenosis type 9b 48
gsd type ixb 48
gsd type 9b 48


External Ids:

OMIM46 261750
ICD10 via Orphanet26 E74.0

Related Diseases for Phosphorylase Kinase Deficiency of Liver and Muscle, Autosomal...

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17GeneCards, 18GeneDecks
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Diseases related to Phosphorylase Kinase Deficiency of Liver and Muscle, Autosomal Recessive via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 135)
idRelated DiseaseScoreTop Affiliating Genes
1glycogen storage disease11.5
2glycogen storage disease ii11.1
3glycogen storage disease iv11.1
4glycogen storage disease i11.1
5glycogen storage disease iii11.1
6glycogen storage disease v10.9
7liver disease10.9
8glycogen storage disease vi10.9
9hepatitis10.9
10glycogen storage disease type 1a10.8
11glycogen storage disease type 010.8
12adenoma10.8
13lysosomal storage disease10.7
14glycogen storage disease vii10.7
15glycogen storage disease type 1310.7
16phosphorylase kinase deficiency10.7
17danon disease10.6
18glycogen storage disease xv10.6
19hepatitis a10.6
20hepatocellular carcinoma10.6
21neutropenia10.6
22fanconi bickel syndrome10.6
23glycogen storage disease ix10.6
24hypoglycemia10.6
25glycogen storage disease type 1210.6
26glycogen storage disease type 0, muscle10.6
27glycogen storage disease, type ixa110.6
28muscle glycogenosis10.6
29glycogen storage disease due to phosphorylase kinase deficiency10.6
30glycogen storage disease viii10.6
31phosphoglycerate mutase deficiency10.6
32glycogen storage disease iiia10.6
33chromosomal disease10.5
34kidney disease10.5
35neuromuscular disease10.5
36glycogen storage disease type 1b10.5
37lethal congenital glycogen storage disease of the heart10.5
38glycogen storage disease due to acid maltase deficiency, adult onset10.5
39hypertrophic cardiomyopathy10.5
40atherosclerosis10.5
41lipid storage disease10.5
42juvenile hereditary hemochromatosis10.5
43glycogen storage disease xii10.5
44glycogen storage disease due to acid maltase deficiency, juvenile onset10.5
45glycogen storage disease due to acid maltase deficiency, infantile onset10.5
46nephrolithiasis10.4
47brain disease10.4
48hypertension10.4
49gout10.3
50fanconi syndrome10.3

Graphical network of the top 20 diseases related to Phosphorylase Kinase Deficiency of Liver and Muscle, Autosomal Recessive:



Diseases related to phosphorylase kinase deficiency of liver and muscle, autosomal recessive

Clinical Features for Phosphorylase Kinase Deficiency of Liver and Muscle, Autosomal...

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46OMIM
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Clinical features from OMIM:

261750

Clinical synopsis from OMIM:

261750

Drugs & Therapeutics for Phosphorylase Kinase Deficiency of Liver and Muscle, Autosomal...

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Search NIH Clinical Center for Phosphorylase Kinase Deficiency of Liver and Muscle, Autosomal Recessive

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Genetic Tests for Phosphorylase Kinase Deficiency of Liver and Muscle, Autosomal...

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Anatomical Context for Phosphorylase Kinase Deficiency of Liver and Muscle, Autosomal...

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32MalaCards
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MalaCards organs/tissues related to Phosphorylase Kinase Deficiency of Liver and Muscle, Autosomal Recessive:

32
Liver

Animal Models for Phosphorylase Kinase Deficiency of Liver and Muscle, Autosomal... or affiliated genes

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Publications for Phosphorylase Kinase Deficiency of Liver and Muscle, Autosomal...

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Genetic Variations for Phosphorylase Kinase Deficiency of Liver and Muscle, Autosomal...

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Phosphorylase Kinase Deficiency of Liver and Muscle, Autosomal Recessive:

62
id Symbol AA change Variation ID SNP ID
1PHKBp.Ala118ProVAR_015536

Expression for genes affiliated with Phosphorylase Kinase Deficiency of Liver and Muscle, Autosomal...

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Phosphorylase Kinase Deficiency of Liver and Muscle, Autosomal Recessive

Search GEO for disease gene expression data for Phosphorylase Kinase Deficiency of Liver and Muscle, Autosomal Recessive.

Pathways for genes affiliated with Phosphorylase Kinase Deficiency of Liver and Muscle, Autosomal...

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Compounds for genes affiliated with Phosphorylase Kinase Deficiency of Liver and Muscle, Autosomal...

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GO Terms for genes affiliated with Phosphorylase Kinase Deficiency of Liver and Muscle, Autosomal...

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Products for genes affiliated with Phosphorylase Kinase Deficiency of Liver and Muscle, Autosomal...

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Phosphorylase Kinase Deficiency of Liver and Muscle, Autosomal...

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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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet