MCID: PHS016
MIFTS: 18

Phosphorylase Kinase Deficiency of Liver and Muscle, Autosomal Recessive malady

Categories: Genetic diseases (common), Liver 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 49 11
Glycogen Storage Disease Ixb 67 24 65
Phosphorylase Kinase Deficiency of Liver and Muscle 67
 
Glycogen Storage Disease 9b 67
Gsd-Ixb 67
Gsd9b 67

Characteristics:

HPO:

61
phosphorylase kinase deficiency of liver and muscle, autosomal recessive:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM49 261750
MeSH36 D006008
UMLS65 C0543514

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

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UniProtKB/Swiss-Prot:67 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 glycogen storage disease, type ixa1, and has symptoms including increased muscle glycogen content, increased hepatic glycogen content and short stature. An important gene associated with Phosphorylase Kinase Deficiency of Liver and Muscle, Autosomal Recessive is PHKB (Phosphorylase Kinase Beta Subunit). Affiliated tissues include liver.

Description from OMIM:49 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
2glycogen 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 increased muscle glycogen content HP:0009051
2 increased hepatic glycogen content HP:0006568
3 short stature HP:0004322
4 hepatomegaly HP:0002240
5 diarrhea HP:0002014
6 muscle weakness HP:0001324
7 muscular hypotonia HP:0001252

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


hepatomegaly, diarrhea

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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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:

33
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:

67
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:

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.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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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
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet