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...

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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 52 12
Glycogen Storage Disease Ixb 52 11 70 68
Glycogenosis Due to Liver and Muscle Phosphorylase Kinase Deficiency 11 54
Gsd Due to Liver and Muscle Phosphorylase Kinase Deficiency 11 54
Glycogen Storage Disease Type Ixb 11 54
Glycogen Storage Disease Type 9b 11 54
Glycogen Storage Disease 9b 70 27
Glycogenosis Type Ixb 11 54
 
Glycogenosis Type 9b 11 54
Gsd Type Ixb 11 54
Gsd Type 9b 11 54
Gsd9b 11 70
Glycogen Storage Disease Due to Liver and Muscle Phosphorylase Kinase Deficiency 54
Phosphorylase Kinase Deficiency of Liver and Muscle 70
Gsd-Ixb 70
Gsd Ixb 11

Characteristics:

Orphanet epidemiological data:

54
glycogenosis due to liver and muscle phosphorylase kinase deficiency:
Inheritance: Autosomal recessive; Age of onset: Childhood; Age of death: normal life expectancy

HPO:

64
phosphorylase kinase deficiency of liver and muscle, autosomal recessive:
Inheritance: autosomal recessive inheritance

Classifications:



External Ids:

OMIM52 261750
Disease Ontology11 DOID:0111041
ICD1030 E74.0
Orphanet54 ORPHA79240
ICD10 via Orphanet31 E74.0
MeSH39 D006008

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

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UniProtKB/Swiss-Prot:70 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, muscular hypotonia and muscle weakness. 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:11 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:52 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 deficiency11.2
2glycogen storage disease, type ixa110.9
3phosphorylase kinase deficiency10.1

Symptoms & Phenotypes 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

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

 64 (show all 7)
id Description HPO Frequency HPO Source Accession
1 muscular hypotonia64 HP:0001252
2 muscle weakness64 HP:0001324
3 diarrhea64 HP:0002014
4 hepatomegaly64 HP:0002240
5 short stature64 HP:0004322
6 increased hepatic glycogen content64 HP:0006568
7 increased muscle glycogen content64 HP:0009051

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...

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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 Ixb27

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:

36
Liver

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:

70
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)SNVPathogenic/ Likely pathogenicrs34667348GRCh37Chr 16, 47684830: 47684830
3PHKBNM_ 000293.2(PHKB): c.306-2A> GSNVPathogenicrs797044442GRCh38Chr 16, 47502989: 47502989
4PHKBNM_ 000293.2(PHKB): c.1257T> A (p.Tyr419Ter)SNVPathogenicrs121918021GRCh37Chr 16, 47630336: 47630336
5PHKBNM_ 000293.2(PHKB): c.352G> C (p.Ala118Pro)SNVPathogenicrs121918022GRCh37Chr 16, 47536948: 47536948
6PHKBNM_ 000293.2(PHKB): c.1546C> T (p.Gln516Ter)SNVPathogenicrs758004953GRCh37Chr 16, 47675541: 47675541

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
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet