MCID: PHS016
MIFTS: 19

Phosphorylase Kinase Deficiency of Liver and Muscle, Autosomal Recessive malady

Genetic diseases, Neuronal diseases, Liver diseases, Rare diseases categories

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

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48OMIM, 34MalaCards
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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 phosphorylase kinase deficiency and muscle phosphorylase kinase deficiency. 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:48 261750

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

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Sources:
48OMIM, 50Orphanet, 63UMLS, 27ICD10 via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

50
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 48
glycogen storage disease due to liver and muscle phosphorylase kinase deficiency 50
glycogenosis due to liver and muscle phosphorylase kinase deficiency 50
gsd due to liver and muscle phosphorylase kinase deficiency 50
glycogen storage disease, type ixb 63
glycogen storage disease type ixb 50
glycogen storage disease, type ix 63
glycogen storage disease type 9b 50
glycogen storage disease 63
glycogenosis type ixb 50
glycogenosis type 9b 50
gsd type ixb 50
gsd type 9b 50


External Ids:

OMIM48 261750
ICD10 via Orphanet27 E74.0

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

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18GeneCards, 19GeneDecks
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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:

idRelated DiseaseScoreTop Affiliating Genes
1phosphorylase kinase deficiency10.6
2muscle phosphorylase kinase deficiency10.6
3phkb-related phosphorylase kinase deficiency10.4

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

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48OMIM
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Symptoms by clinical synopsis from OMIM:

261750

Clinical features from OMIM:

261750

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

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

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Drug clinical trials:

Search ClinicalTrials for Phosphorylase Kinase Deficiency of Liver and Muscle, Autosomal Recessive

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

Search CenterWatch for Phosphorylase Kinase Deficiency of Liver and Muscle, Autosomal Recessive

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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34MalaCards
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MalaCards organs/tissues related to Phosphorylase Kinase Deficiency of Liver and Muscle, Autosomal Recessive:

34
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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Variations for Phosphorylase Kinase Deficiency of Liver and Muscle, Autosomal...

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Sources:
65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Phosphorylase Kinase Deficiency of Liver and Muscle, Autosomal Recessive:

65
id Symbol AA change Variation ID SNP ID
1PHKBp.Ala118ProVAR_015536

Clinvar genetic disease variations for Phosphorylase Kinase Deficiency of Liver and Muscle, Autosomal Recessive:

1
id Gene Name Type Significance SNP ID Assembly Location
1PHKBPHKB, 1-BP INSinsertionPathogenic
2PHKBNM_000293.2(PHKB): c.1969C> T (p.Gln657Ter)single nucleotide variantPathogenicrs34667348GRCh37Chr 16, 47684830: 47684830
3PHKBPHKB, IVS4AS, A-G, -2single nucleotide variantPathogenic
4PHKBNM_000293.2(PHKB): c.1257T> A (p.Tyr419Ter)single nucleotide variantPathogenicrs121918021GRCh37Chr 16, 47630336: 47630336
5PHKBNM_000293.2(PHKB): c.2923T> C (p.Tyr975His)single nucleotide variantPathogenicrs111734407GRCh37Chr 16, 47730319: 47730319
6PHKBNM_000293.2(PHKB): c.352G> C (p.Ala118Pro)single nucleotide variantPathogenicrs121918022GRCh37Chr 16, 47536948: 47536948

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

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2BioGPS, 16Gene 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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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