GSD9B
MCID: GLY097
MIFTS: 29

Glycogen Storage Disease Ixb (GSD9B)

Categories: Blood diseases, Cardiovascular diseases, Endocrine diseases, Gastrointestinal diseases, Genetic diseases, Liver diseases, Metabolic diseases, Muscle diseases, Nephrological diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Glycogen Storage Disease Ixb

MalaCards integrated aliases for Glycogen Storage Disease Ixb:

Name: Glycogen Storage Disease Ixb 57 12 75 29 6 15 73
Gsd9b 57 12 75
Phosphorylase Kinase Deficiency of Liver and Muscle, Autosomal Recessive 57 13
Glycogenosis Due to Liver and Muscle Phosphorylase Kinase Deficiency 12 59
Gsd Due to Liver and Muscle Phosphorylase Kinase Deficiency 12 59
Glycogen Storage Disease Type Ixb 12 59
Glycogen Storage Disease Type 9b 12 59
Glycogenosis Type Ixb 12 59
Glycogenosis Type 9b 12 59
Gsd Type Ixb 12 59
Gsd Type 9b 12 59
Gsd Ixb 57 12
Glycogen Storage Disease Due to Liver and Muscle Phosphorylase Kinase Deficiency 59
Glycogenosis of Liver and Muscle, Autosomal Recessive 57
Phosphorylase Kinase Deficiency of Liver and Muscle 75
Storage Disease, Glycogen, Type Ixb 40
Glycogen Storage Disease 9b 75
Gsd-Ixb 75

Characteristics:

Orphanet epidemiological data:

59
glycogen storage disease due to liver and muscle phosphorylase kinase deficiency
Inheritance: Autosomal recessive; Age of onset: Childhood; Age of death: normal life expectancy;

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
glycogen storage disease ixb:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 261750
Disease Ontology 12 DOID:0111041
ICD10 33 E74.0
Orphanet 59 ORPHA79240
ICD10 via Orphanet 34 E74.0
UMLS via Orphanet 74 C0543514
MeSH 44 D006008
UMLS 73 C0543514

Summaries for Glycogen Storage Disease Ixb

UniProtKB/Swiss-Prot : 75 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 : Glycogen Storage Disease Ixb, also known as gsd9b, is related to glycogen storage disease ixa1 and glycogen storage disease, type ixd, and has symptoms including diarrhea An important gene associated with Glycogen Storage Disease Ixb is PHKB (Phosphorylase Kinase Regulatory Subunit Beta), and among its related pathways/superpathways is Glucagon signaling pathway. Affiliated tissues include liver, and related phenotypes are muscle weakness and hepatomegaly

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 Glycogen Storage Disease Ixb

Symptoms & Phenotypes for Glycogen Storage Disease Ixb

Symptoms via clinical synopsis from OMIM:

57
Abdomen Liver:
hepatomegaly

Muscle Soft Tissue:
hypotonia
mild weakness

Laboratory Abnormalities:
phosphorylase kinase deficiency in liver and muscle
glycogen accumulation in both liver and muscle

Abdomen Gastrointestinal:
diarrhea

Growth Height:
short stature, postnatal onset


Clinical features from OMIM:

261750

Human phenotypes related to Glycogen Storage Disease Ixb:

32 (show all 7)
# Description HPO Frequency HPO Source Accession
1 muscle weakness 32 HP:0001324
2 hepatomegaly 32 HP:0002240
3 short stature 32 HP:0004322
4 increased muscle glycogen content 32 HP:0009051
5 diarrhea 32 HP:0002014
6 generalized hypotonia 32 HP:0001290
7 increased hepatic glycogen content 32 HP:0006568

UMLS symptoms related to Glycogen Storage Disease Ixb:


diarrhea

Drugs & Therapeutics for Glycogen Storage Disease Ixb

Search Clinical Trials , NIH Clinical Center for Glycogen Storage Disease Ixb

Genetic Tests for Glycogen Storage Disease Ixb

Genetic tests related to Glycogen Storage Disease Ixb:

# Genetic test Affiliating Genes
1 Glycogen Storage Disease Ixb 29 PHKB

Anatomical Context for Glycogen Storage Disease Ixb

MalaCards organs/tissues related to Glycogen Storage Disease Ixb:

41
Liver

Publications for Glycogen Storage Disease Ixb

Articles related to Glycogen Storage Disease Ixb:

# Title Authors Year
1
Glycogenosis due to liver and muscle phosphorylase kinase deficiency. ( 6938920 )
1981

Variations for Glycogen Storage Disease Ixb

UniProtKB/Swiss-Prot genetic disease variations for Glycogen Storage Disease Ixb:

75
# Symbol AA change Variation ID SNP ID
1 PHKB p.Ala118Pro VAR_015536 rs121918022

ClinVar genetic disease variations for Glycogen Storage Disease Ixb:

6 (show all 49)
# Gene Variation Type Significance SNP ID Assembly Location
1 PHKB PHKB, 1-BP INS insertion Pathogenic
2 PHKB NM_000293.2(PHKB): c.1969C> T (p.Gln657Ter) single nucleotide variant Pathogenic/Likely pathogenic rs34667348 GRCh37 Chromosome 16, 47684830: 47684830
3 PHKB NM_000293.2(PHKB): c.1969C> T (p.Gln657Ter) single nucleotide variant Pathogenic/Likely pathogenic rs34667348 GRCh38 Chromosome 16, 47650919: 47650919
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.306-2A> G single nucleotide variant Pathogenic rs797044442 GRCh37 Chromosome 16, 47536900: 47536900
6 PHKB NM_000293.2(PHKB): c.1257T> A (p.Tyr419Ter) single nucleotide variant Pathogenic rs121918021 GRCh37 Chromosome 16, 47630336: 47630336
7 PHKB NM_000293.2(PHKB): c.1257T> A (p.Tyr419Ter) single nucleotide variant Pathogenic rs121918021 GRCh38 Chromosome 16, 47596425: 47596425
8 PHKB NM_000293.2(PHKB): c.2923T> C (p.Tyr975His) single nucleotide variant no interpretation for the single variant rs111734407 GRCh37 Chromosome 16, 47730319: 47730319
9 PHKB NM_000293.2(PHKB): c.2923T> C (p.Tyr975His) single nucleotide variant no interpretation for the single variant rs111734407 GRCh38 Chromosome 16, 47696408: 47696408
10 PHKB NM_000293.2(PHKB): c.352G> C (p.Ala118Pro) single nucleotide variant Uncertain significance rs121918022 GRCh37 Chromosome 16, 47536948: 47536948
11 PHKB NM_000293.2(PHKB): c.352G> C (p.Ala118Pro) single nucleotide variant Uncertain significance rs121918022 GRCh38 Chromosome 16, 47503037: 47503037
12 PHKB NM_000293.2(PHKB): c.2926G> T (p.Glu976Ter) single nucleotide variant no interpretation for the single variant rs199948078 GRCh37 Chromosome 16, 47730322: 47730322
13 PHKB NM_000293.2(PHKB): c.2926G> T (p.Glu976Ter) single nucleotide variant no interpretation for the single variant rs199948078 GRCh38 Chromosome 16, 47696411: 47696411
14 PHKB NM_000293.2(PHKB): c.518A> G (p.Asn173Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs139738333 GRCh37 Chromosome 16, 47549436: 47549436
15 PHKB NM_000293.2(PHKB): c.518A> G (p.Asn173Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs139738333 GRCh38 Chromosome 16, 47515525: 47515525
16 PHKB NM_001031835.2(PHKB): c.2288A> G (p.Tyr763Cys) single nucleotide variant Benign/Likely benign rs16945474 GRCh38 Chromosome 16, 47663707: 47663707
17 PHKB NM_001031835.2(PHKB): c.2288A> G (p.Tyr763Cys) single nucleotide variant Benign/Likely benign rs16945474 GRCh37 Chromosome 16, 47697618: 47697618
18 PHKB NM_000293.2(PHKB): c.1546C> T (p.Gln516Ter) single nucleotide variant Pathogenic rs758004953 GRCh37 Chromosome 16, 47675541: 47675541
19 PHKB NM_000293.2(PHKB): c.1546C> T (p.Gln516Ter) single nucleotide variant Pathogenic rs758004953 GRCh38 Chromosome 16, 47641630: 47641630
20 PHKB NM_000293.2(PHKB): c.2433T> G (p.Thr811=) single nucleotide variant Conflicting interpretations of pathogenicity rs187940556 GRCh37 Chromosome 16, 47703131: 47703131
21 PHKB NM_000293.2(PHKB): c.2433T> G (p.Thr811=) single nucleotide variant Conflicting interpretations of pathogenicity rs187940556 GRCh38 Chromosome 16, 47669220: 47669220
22 PHKB NM_000293.2(PHKB): c.2459A> T (p.Glu820Val) single nucleotide variant Conflicting interpretations of pathogenicity rs9934849 GRCh37 Chromosome 16, 47703157: 47703157
23 PHKB NM_000293.2(PHKB): c.2459A> T (p.Glu820Val) single nucleotide variant Conflicting interpretations of pathogenicity rs9934849 GRCh38 Chromosome 16, 47669246: 47669246
24 PHKB NM_000293.2(PHKB): c.400G> A (p.Asp134Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs144486825 GRCh38 Chromosome 16, 47503085: 47503085
25 PHKB NM_000293.2(PHKB): c.400G> A (p.Asp134Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs144486825 GRCh37 Chromosome 16, 47536996: 47536996
26 PHKB NM_000293.2(PHKB): c.491A> G (p.Tyr164Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs144211929 GRCh38 Chromosome 16, 47511750: 47511750
27 PHKB NM_000293.2(PHKB): c.491A> G (p.Tyr164Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs144211929 GRCh37 Chromosome 16, 47545661: 47545661
28 PHKB NM_000293.2(PHKB): c.3121C> T (p.Arg1041Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs12918964 GRCh37 Chromosome 16, 47732476: 47732476
29 PHKB NM_000293.2(PHKB): c.3121C> T (p.Arg1041Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs12918964 GRCh38 Chromosome 16, 47698565: 47698565
30 PHKB NM_000293.2(PHKB): c.500A> G (p.Tyr167Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs151155518 GRCh38 Chromosome 16, 47511759: 47511759
31 PHKB NM_000293.2(PHKB): c.500A> G (p.Tyr167Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs151155518 GRCh37 Chromosome 16, 47545670: 47545670
32 PHKB NM_000293.2(PHKB): c.2766-8T> C single nucleotide variant Benign rs186710481 GRCh38 Chromosome 16, 47693370: 47693370
33 PHKB NM_000293.2(PHKB): c.2766-8T> C single nucleotide variant Benign rs186710481 GRCh37 Chromosome 16, 47727281: 47727281
34 PHKB NM_000293.2(PHKB): c.914T> C (p.Phe305Ser) single nucleotide variant Uncertain significance rs746454503 GRCh37 Chromosome 16, 47622859: 47622859
35 PHKB NM_000293.2(PHKB): c.914T> C (p.Phe305Ser) single nucleotide variant Uncertain significance rs746454503 GRCh38 Chromosome 16, 47588948: 47588948
36 PHKB NM_000293.2(PHKB): c.574A> G (p.Ile192Val) single nucleotide variant Conflicting interpretations of pathogenicity rs117218785 GRCh37 Chromosome 16, 47549492: 47549492
37 PHKB NM_000293.2(PHKB): c.574A> G (p.Ile192Val) single nucleotide variant Conflicting interpretations of pathogenicity rs117218785 GRCh38 Chromosome 16, 47515581: 47515581
38 PHKB NM_000293.2(PHKB): c.203C> T (p.Thr68Ile) single nucleotide variant Uncertain significance GRCh38 Chromosome 16, 47499792: 47499792
39 PHKB NM_000293.2(PHKB): c.203C> T (p.Thr68Ile) single nucleotide variant Uncertain significance GRCh37 Chromosome 16, 47533703: 47533703
40 PHKB NM_000293.2(PHKB): c.39G> A (p.Trp13Ter) single nucleotide variant Benign rs141733590 GRCh38 Chromosome 16, 47461389: 47461389
41 PHKB NM_000293.2(PHKB): c.39G> A (p.Trp13Ter) single nucleotide variant Benign rs141733590 GRCh37 Chromosome 16, 47495300: 47495300
42 PHKB NM_000293.2(PHKB): c.820C> T (p.Arg274Cys) single nucleotide variant Uncertain significance rs781197907 GRCh37 Chromosome 16, 47621624: 47621624
43 PHKB NM_000293.2(PHKB): c.820C> T (p.Arg274Cys) single nucleotide variant Uncertain significance rs781197907 GRCh38 Chromosome 16, 47587713: 47587713
44 PHKB NC_000016.10: g.(?_47669195)_(47669437_?)del deletion Pathogenic GRCh38 Chromosome 16, 47669195: 47669437
45 PHKB NC_000016.10: g.(?_47669195)_(47669437_?)del deletion Pathogenic GRCh37 Chromosome 16, 47703106: 47703348
46 PHKB NM_000293.2(PHKB): c.245C> G (p.Ala82Gly) single nucleotide variant Uncertain significance rs754835322 GRCh38 Chromosome 16, 47499834: 47499834
47 PHKB NM_000293.2(PHKB): c.245C> G (p.Ala82Gly) single nucleotide variant Uncertain significance rs754835322 GRCh37 Chromosome 16, 47533745: 47533745
48 PHKB NM_000293.2(PHKB): c.1748G> A (p.Ser583Asn) single nucleotide variant Uncertain significance GRCh38 Chromosome 16, 47649155: 47649155
49 PHKB NM_000293.2(PHKB): c.1748G> A (p.Ser583Asn) single nucleotide variant Uncertain significance GRCh37 Chromosome 16, 47683066: 47683066

Expression for Glycogen Storage Disease Ixb

Search GEO for disease gene expression data for Glycogen Storage Disease Ixb.

Pathways for Glycogen Storage Disease Ixb

Pathways related to Glycogen Storage Disease Ixb according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.64 GCG PHKB

GO Terms for Glycogen Storage Disease Ixb

Sources for Glycogen Storage Disease Ixb

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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