GSD9B
MCID: PHS016
MIFTS: 25

Phosphorylase Kinase Deficiency of Liver and Muscle, Autosomal Recessive (GSD9B) malady

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

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

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

Name: Phosphorylase Kinase Deficiency of Liver and Muscle, Autosomal Recessive 54 13
Glycogen Storage Disease Ixb 54 12 66 69
Glycogenosis Due to Liver and Muscle Phosphorylase Kinase Deficiency 12 56
Gsd Due to Liver and Muscle Phosphorylase Kinase Deficiency 12 56
Glycogen Storage Disease Type Ixb 12 56
Glycogen Storage Disease Type 9b 12 56
Glycogen Storage Disease 9b 66 29
Glycogenosis Type Ixb 12 56
Glycogenosis Type 9b 12 56
Gsd Type Ixb 12 56
Gsd Type 9b 12 56
Gsd9b 12 66
Glycogen Storage Disease Due to Liver and Muscle Phosphorylase Kinase Deficiency 56
Phosphorylase Kinase Deficiency of Liver and Muscle 66
Gsd Ixb 12
Gsd-Ixb 66

Characteristics:

Orphanet epidemiological data:

56
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:

32
phosphorylase kinase deficiency of liver and muscle, autosomal recessive:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 54 261750
Disease Ontology 12 DOID:0111041
ICD10 33 E74.0
Orphanet 56 ORPHA79240
ICD10 via Orphanet 34 E74.0
MeSH 42 D006008

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

UniProtKB/Swiss-Prot : 66 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 diarrhea, muscle weakness 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.

Disease Ontology : 12 A glycogen storage disease IX characterized by autosomal recessive inheritance of hepatomegaly, short stature, hypotonia and accumulation of glycogen in both liver and muscle, without clinical symptoms, that has material_basis_in compound heterozygous mutation in the PHKB gene on chromosome 16q12.

Description from OMIM: 261750

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

Diseases related to Phosphorylase Kinase Deficiency of Liver and Muscle, Autosomal Recessive via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 phkb-related phosphorylase kinase deficiency 11.2
2 glycogen storage disease, type ixa1 10.9
3 phosphorylase kinase deficiency 10.1

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

Symptoms by clinical synopsis from OMIM:

261750

Clinical features from OMIM:

261750

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

32 (show all 7)
id Description HPO Frequency HPO Source Accession
1 diarrhea 32 HP:0002014
2 muscle weakness 32 HP:0001324
3 muscular hypotonia 32 HP:0001252
4 hepatomegaly 32 HP:0002240
5 short stature 32 HP:0004322
6 increased muscle glycogen content 32 HP:0009051
7 increased hepatic glycogen content 32 HP:0006568

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


diarrhea

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

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

Genetic Tests for Phosphorylase Kinase Deficiency of Liver and Muscle, Autosomal...

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

id Genetic test Affiliating Genes
1 Glycogen Storage Disease Ixb 29

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

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

39
Liver

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

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

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

66
id Symbol AA change Variation ID SNP ID
1 PHKB p.Ala118Pro VAR_015536 rs121918022

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

6
id Gene Variation Type Significance SNP ID Assembly Location
1 PHKB NM_000293.2(PHKB): c.352G> C (p.Ala118Pro) single nucleotide variant Pathogenic rs121918022 GRCh37 Chromosome 16, 47536948: 47536948
2 PHKB PHKB, 1-BP INS insertion Pathogenic
3 PHKB NM_000293.2(PHKB): c.1969C> T (p.Gln657Ter) single nucleotide variant Pathogenic/Likely pathogenic rs34667348 GRCh37 Chromosome 16, 47684830: 47684830
4 PHKB NM_000293.2(PHKB): c.306-2A> G single nucleotide variant Pathogenic rs797044442 GRCh38 Chromosome 16, 47502989: 47502989
5 PHKB NM_000293.2(PHKB): c.1257T> A (p.Tyr419Ter) single nucleotide variant Pathogenic rs121918021 GRCh37 Chromosome 16, 47630336: 47630336
6 PHKB NM_000293.2(PHKB): c.1546C> T (p.Gln516Ter) single nucleotide variant Pathogenic rs758004953 GRCh37 Chromosome 16, 47675541: 47675541

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

Search GEO for disease gene expression data for Phosphorylase Kinase Deficiency of Liver and Muscle, Autosomal Recessive.

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

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

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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