MCID: PHS016
MIFTS: 24

Phosphorylase Kinase Deficiency of Liver and Muscle, Autosomal Recessive malady

Categories: Genetic diseases, Neuronal diseases, Liver diseases, Metabolic diseases, Rare diseases

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

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Aliases & Descriptions for Phosphorylase Kinase Deficiency of Liver and Muscle, Autosomal Recessive:

Name: Phosphorylase Kinase Deficiency of Liver and Muscle, Autosomal Recessive 50 12
Glycogen Storage Disease Ixb 50 68 66
Glycogen Storage Disease 9b 68 25
Glycogen Storage Disease Due to Liver and Muscle Phosphorylase Kinase Deficiency 52
Glycogenosis Due to Liver and Muscle Phosphorylase Kinase Deficiency 52
Gsd Due to Liver and Muscle Phosphorylase Kinase Deficiency 52
Phosphorylase Kinase Deficiency of Liver and Muscle 68
Glycogen Storage Disease Type Ixb 52
 
Glycogen Storage Disease Type 9b 52
Glycogenosis Type Ixb 52
Glycogenosis Type 9b 52
Gsd Type Ixb 52
Gsd Type 9b 52
Gsd-Ixb 68
Gsd9b 68

Characteristics:

Orphanet epidemiological data:

52
glycogen storage disease due to liver and muscle phosphorylase kinase deficiency:
Inheritance: Autosomal recessive; Age of onset: Childhood; Age of death: normal life expectancy

HPO:

62
phosphorylase kinase deficiency of liver and muscle, autosomal recessive:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM50 261750
Orphanet52 ORPHA79240
ICD10 via Orphanet29 E74.0
MeSH37 D006008

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

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UniProtKB/Swiss-Prot:68 Glycogen storage disease 9B: A metabolic disorder characterized by hepatomegaly, only slightly elevated transaminases and plasma lipids, clinical improvement with increasing age, and remarkably no clinical muscle involvement. Biochemical observations suggest that this mild phenotype is caused by an incomplete holoenzyme that lacks the beta subunit, but that may possess residual activity.

MalaCards based summary: Phosphorylase Kinase Deficiency of Liver and Muscle, Autosomal Recessive, also known as glycogen storage disease ixb, is related to phkb-related phosphorylase kinase deficiency and phosphorylase kinase deficiency, and has symptoms including diarrhea, hepatomegaly and muscular hypotonia. An important gene associated with Phosphorylase Kinase Deficiency of Liver and Muscle, Autosomal Recessive is PHKB (Phosphorylase Kinase Regulatory Subunit Beta). Affiliated tissues include liver.

Description from OMIM:50 261750

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 Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1phkb-related phosphorylase kinase deficiency11.3
2phosphorylase kinase deficiency10.2
3glycogen storage disease, type ixa110.0

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 7)
id Description Frequency HPO Source Accession
1 muscular hypotonia HP:0001252
2 muscle weakness HP:0001324
3 diarrhea HP:0002014
4 hepatomegaly HP:0002240
5 short stature HP:0004322
6 increased hepatic glycogen content HP:0006568
7 increased muscle glycogen content HP:0009051

UMLS symptoms related to Phosphorylase Kinase Deficiency of Liver and Muscle, Autosomal Recessive:


diarrhea, hepatomegaly

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

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Interventional clinical trials:

Search ClinicalTrials, 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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Genetic tests related to Phosphorylase Kinase Deficiency of Liver and Muscle, Autosomal Recessive:

id Genetic test Affiliating Genes
1 Glycogen Storage Disease Ixb25

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:

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

68
id Symbol AA change Variation ID SNP ID
1PHKBp.Ala118ProVAR_015536rs121918022

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

5
id Gene Variation 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
3PHKBNM_000293.2(PHKB): c.306-2A> Gsingle nucleotide variantPathogenicrs797044442GRCh38Chr 16, 47502989: 47502989
4PHKBNM_000293.2(PHKB): c.1257T> A (p.Tyr419Ter)single nucleotide variantPathogenicrs121918021GRCh37Chr 16, 47630336: 47630336
5PHKBNM_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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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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GO Terms for genes affiliated with Phosphorylase Kinase Deficiency of Liver and Muscle, Autosomal...

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

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet