MCID: PHS016
MIFTS: 18

Phosphorylase Kinase Deficiency of Liver and Muscle, Autosomal Recessive malady

Genetic diseases, Neuronal diseases, Liver diseases, Metabolic diseases, Rare diseases categories
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Summaries for Phosphorylase Kinase Deficiency of Liver and Muscle, Autosomal...

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MalaCards based summary: 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, and has symptoms including 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, 62UMLS, 26ICD10 via Orphanet
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Phosphorylase Kinase Deficiency of Liver and Muscle, Autosomal Recessive, Aliases & Descriptions:

Name: 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 62
Glycogen Storage Disease Type Ixb 48
 
Glycogen Storage Disease Type 9b 48
Glycogenosis Type Ixb 48
Glycogenosis Type 9b 48
Gsd Type Ixb 48
Gsd Type 9b 48


Classifications:



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


External Ids:

OMIM46 261750
ICD10 via Orphanet26 E74.0

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

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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

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

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Symptoms by clinical synopsis from OMIM:

261750

Clinical features from OMIM:

261750

HPO human phenotypes related to Phosphorylase Kinase Deficiency of Liver and Muscle, Autosomal Recessive:

(show all 6)
id Description Frequency HPO Source Accession
1 autosomal recessive inheritance HP:0000007
2 muscular hypotonia HP:0001252
3 abnormality of metabolism/homeostasis HP:0001939
4 diarrhea HP:0002014
5 hepatomegaly HP:0002240
6 short stature HP:0004322

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

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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

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

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

64
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:

6
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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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

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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet