MCID: PHS016
MIFTS: 17

Phosphorylase Kinase Deficiency of Liver and Muscle, Autosomal Recessive malady

Genetic diseases (common), Liver diseases categories

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

About this section

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

Name: Phosphorylase Kinase Deficiency of Liver and Muscle, Autosomal Recessive 45 10
Glycogen Storage Disease Ixb 45 60
 
Glycogen Storage Disease Type Ixb 22


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases (common)
Anatomical: Liver diseases


External Ids:

OMIM45 261750

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

About this section


MalaCards based summary: Phosphorylase Kinase Deficiency of Liver and Muscle, Autosomal Recessive, also known as glycogen storage disease ixb, is related to galactosemia, and has symptoms including autosomal recessive inheritance, muscular hypotonia and abnormality of metabolism/homeostasis. 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:45 261750

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

About this section

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
1galactosemia10.6

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

About this section

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...

About this section

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...

About this section

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

id Genetic test Affiliating Genes
1 Glycogen Storage Disease Ixb22

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

About this section

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

31
Liver

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

About this section

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

About this section

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

About this section

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

62
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 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
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...

About this section
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...

About this section

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

About this section

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

About this section

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

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

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

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet