MCID: PHS016
MIFTS: 26

Phosphorylase Kinase Deficiency of Liver and Muscle, Autosomal Recessive malady

Neuronal, Liver, Metabolic categories

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

Sources:
21Genetics Home Reference, 47OMIM, 33MalaCards
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Genetics Home Reference:21 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: 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 i and glycogen storage disease v, and has symptoms including storage liver disease, hypoglycemia and autosomal recessive inheritance. 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:47 261750,300559,306000,613027

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

Sources:
61UMLS, 49Orphanet, 47OMIM, 26ICD10 via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

49
glycogen storage disease due to phosphorylase kinase deficiency:
Inheritance: Autosomal recessive,X-linked recessive; Prevalence: 1-9/100000; Age of onset: Variable
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 47
glycogen storage disease due to liver and muscle phosphorylase kinase deficiency 49
glycogenosis due to liver and muscle phosphorylase kinase deficiency 49
glycogen storage disease due to phosphorylase kinase deficiency 49
gsd due to liver and muscle phosphorylase kinase deficiency 49
glycogenosis due to phosphorylase kinase deficiency 49
glycogen storage disease due to phk deficiency 49
gsd due to phosphorylase kinase deficiency 49
glycogen storage disease, type ixb 61
glycogen storage disease, type ix 61
gycogenosis due to phk deficiency 49
glycogen storage disease type ixb 49
glycogen storage disease type 9b 49
glycogen storage disease type ix 49
glycogen storage disease type 9 49
glycogen storage disease 61
glycogenosis type ixb 49
glycogenosis type ix 49
glycogenosis type 9b 49
glycogenosis type 9 49
gsd type ixb 49
gsd type ix 49
gsd type 9b 49
gsd type 9 49


External Ids:

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 118)
idRelated DiseaseScoreTop Affiliating Genes
1glycogen storage disease i11.3
2glycogen storage disease v11.1
3glycogen storage disease iv11.0
4glycogen storage disease vi11.0
5glycogen storage disease ii11.0
6glycogen storage disease iii11.0
7glycogen storage disease type 1a10.9
8adenoma10.9
9glycogen storage disease iiia10.8
10glycogen storage disease type 010.7
11glycogen storage disease vii10.7
12hepatocellular adenoma10.7
13danon disease10.7
14phosphorylase kinase deficiency10.7
15glycogen storage disease type 1310.7
16glycogen storage disease xv10.7
17fanconi bickel syndrome10.7
18hypoglycemia10.6
19glycogen storage disease type 0, muscle10.6
20muscle glycogenosis10.6
21lip disease10.6
22glycogen storage disease viii10.6
23glycogen storage disease type 1210.6
24glycogen storage disease, type ixa110.6
25phosphoglycerate mutase deficiency10.6
26glycogen storage disease type 1b10.5
27lethal congenital glycogen storage disease of the heart10.5
28gout10.5
29crohn's disease10.5
30hypertrophic cardiomyopathy10.5
31atherosclerosis10.5
32glycogen storage disease due to acid maltase deficiency, adult onset10.5
33nephrolithiasis10.4
34brain disease10.4
35juvenile hereditary hemochromatosis10.4
36glycogen storage disease xii10.4
37nutrition disease10.4
38glycogen storage disease due to acid maltase deficiency, juvenile onset10.4
39glycogen storage disease due to acid maltase deficiency, infantile onset10.4
40b cell deficiency10.4
41muscle phosphorylase kinase deficiency10.4
42fanconi syndrome10.4
43dent's disease10.4
44glycogen storage disease type 1410.4
45glycogen storage disease iiib10.4
46glycogen storage disease ic10.4
47glycogen storage disease ixc10.4
48niemann-pick disease10.3
49biliary atresia10.3
50glycogen storage disease ix10.3

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...

Sources:
47OMIM, 49Orphanet
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Clinical features from OMIM:

261750,300559,306000,613027

Clinical synopsis from OMIM:

261750

Symptoms:

49 (show all 8)
  • storage liver disease
  • hypoglycemia
  • autosomal recessive inheritance
  • short stature/dwarfism/nanism
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • hyperlipidemia/hypercholesterolemia/hypertriglyceridemia
  • x-linked recessive inheritance
  • failure to thrive/difficulties for feeding in infancy/growth delay

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

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5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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

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

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33MalaCards
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MalaCards organs/tissues related to Phosphorylase Kinase Deficiency of Liver and Muscle, Autosomal Recessive:

33
Liver

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

Sources:
28inGenious Targeting Laboratory
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Publications for Phosphorylase Kinase Deficiency of Liver and Muscle, Autosomal...

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

Sources:
63UniProtKB/Swiss-Prot
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Genetic disease variations for Phosphorylase Kinase Deficiency of Liver and Muscle, Autosomal Recessive:

63
id Symbol AA change Variation SNP ID
1PHKBp.Ala118ProVAR_015536

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

Sources:
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...

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

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

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

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

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

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet