GSD9C
MCID: GLY044
MIFTS: 37

Glycogen Storage Disease Ixc (GSD9C)

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

Aliases & Classifications for Glycogen Storage Disease Ixc

MalaCards integrated aliases for Glycogen Storage Disease Ixc:

Name: Glycogen Storage Disease Ixc 57 12 72 29 13 6 15 70
Gsd9c 57 12 72
Glycogen Storage Disease Type Ixc 12 6
Storage Disease, Glycogen, Type Ixc 39
Glycogen Storage Disease Type 9c 12
Autosomal Liver Glycogenosis 72
Glycogen Storage Disease 9c 72
Glycogenosis Type Ixc 12
Glycogenosis Type 9c 12
Gsd Type Ixc 12
Gsd Type 9c 12
Gsd Ixc 57
Gsd-Ixc 72
Alg 72

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy or early childhood
clinical and biochemical abnormalities improve with age


HPO:

31
glycogen storage disease ixc:
Inheritance autosomal recessive inheritance
Onset and clinical course infantile onset


Classifications:



Summaries for Glycogen Storage Disease Ixc

Disease Ontology : 12 A glycogen storage disease IX characterized by autosomal recessive inheritance of hepatomegaly, hypotonia, growth retardation, and liver dysfunction with onset in childhood and improvement of symptoms with age that has material basis in homozygous and compound heterozygous mutation in the PHKG2 gene on chromosome 16p11.

MalaCards based summary : Glycogen Storage Disease Ixc, also known as gsd9c, is related to glycogen storage disease due to liver phosphorylase kinase deficiency and glycogen storage disease ixa1. An important gene associated with Glycogen Storage Disease Ixc is PHKG2 (Phosphorylase Kinase Catalytic Subunit Gamma 2). Affiliated tissues include liver, skeletal muscle and testis, and related phenotypes are splenomegaly and hepatomegaly

OMIM® : 57 Glycogen storage disease IXc is characterized by onset in childhood of hepatomegaly, hypotonia, growth retardation in childhood, and liver dysfunction. These symptoms improve with age in most cases; however, some patients may develop hepatic fibrosis or cirrhosis (Burwinkel et al., 1998). (613027) (Updated 20-May-2021)

UniProtKB/Swiss-Prot : 72 Glycogen storage disease 9C: A metabolic disorder manifesting in infancy with hepatomegaly, growth retardation, hypotonia, liver dysfunction, and elevated plasma aminotransferases and lipids. These symptoms improve with age in most cases; however, some patients may develop hepatic fibrosis or cirrhosis.

Related Diseases for Glycogen Storage Disease Ixc

Diseases in the Glycogen Storage Disease family:

Glycogen Storage Disease Ia Glycogen Storage Disease Ib
Glycogen Storage Disease Ic Glycogen Storage Disease Ii
Glycogen Storage Disease Iii Glycogen Storage Disease Iv
Glycogen Storage Disease V Glycogen Storage Disease Vi
Glycogen Storage Disease Vii Glycogen Storage Disease X
Glycogen Storage Disease Ixb Glycogen Storage Disease, Type Ixd
Glycogen Storage Disease Xii Glycogen Storage Disease Xiii
Glycogen Storage Disease Ixc Glycogen Storage Disease Xv
Glycogen Storage Disease Ix Glycogen Storage Disease Ixa
Glycogen Storage Disease Viii Glycogen Storage Disease Type 0

Diseases related to Glycogen Storage Disease Ixc via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 42)
# Related Disease Score Top Affiliating Genes
1 glycogen storage disease due to liver phosphorylase kinase deficiency 11.4
2 glycogen storage disease ixa1 11.0
3 aplastic anemia 10.5
4 pulmonary fibrosis and/or bone marrow failure, telomere-related, 2 10.5
5 glycogen storage disease 10.4
6 phosphorylase kinase deficiency 10.3
7 deficiency anemia 10.1
8 thrombocytopenia 10.1
9 pancytopenia 10.1
10 graft-versus-host disease 10.0
11 helix syndrome 10.0
12 pure red-cell aplasia 10.0
13 acute kidney failure 10.0
14 overgrowth syndrome 10.0
15 alzheimer disease 9.8
16 autoimmune disease 9.8
17 vitiligo-associated multiple autoimmune disease susceptibility 6 9.8
18 mucolipidosis iv 9.8
19 myasthenia gravis 9.8
20 thymoma, familial 9.8
21 vitiligo-associated multiple autoimmune disease susceptibility 1 9.8
22 myelodysplastic syndrome 9.8
23 paroxysmal nocturnal hemoglobinuria 9.8
24 lymphoproliferative syndrome 9.8
25 mucolipidosis 9.8
26 rapidly involuting congenital hemangioma 9.8
27 cholera 9.8
28 hepatitis 9.8
29 contact dermatitis 9.8
30 glomerulonephritis 9.8
31 lysosomal storage disease 9.8
32 thymoma 9.8
33 mesenchymal cell neoplasm 9.8
34 hemoglobinuria 9.8
35 lymphopenia 9.8
36 childhood leukemia 9.8
37 glioma 9.8
38 granulocytopenia 9.8
39 spinal cord injury 9.8
40 glial tumor 9.8
41 glycogen storage disease ix 9.6 PHKG2 NSUN2 MMAA
42 non-syndromic x-linked intellectual disability 9.5 ZNF674 NSUN2

Graphical network of the top 20 diseases related to Glycogen Storage Disease Ixc:



Diseases related to Glycogen Storage Disease Ixc

Symptoms & Phenotypes for Glycogen Storage Disease Ixc

Human phenotypes related to Glycogen Storage Disease Ixc:

31 (show all 13)
# Description HPO Frequency HPO Source Accession
1 splenomegaly 31 HP:0001744
2 hepatomegaly 31 HP:0002240
3 hypertriglyceridemia 31 HP:0002155
4 growth delay 31 HP:0001510
5 elevated hepatic transaminase 31 HP:0002910
6 cirrhosis 31 HP:0001394
7 motor delay 31 HP:0001270
8 lactic acidosis 31 HP:0003128
9 generalized hypotonia 31 HP:0001290
10 fasting hypoglycemia 31 HP:0003162
11 ketosis 31 HP:0001946
12 bile duct proliferation 31 HP:0001408
13 hypotonia 31 HP:0001252

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Abdomen Spleen:
splenomegaly

Laboratory Abnormalities:
lactic acidosis
fasting hypoglycemia
increased serum triglycerides
abnormal liver enzymes
fasting ketosis
more
Growth Height:
normal final adult height
growth retardation in childhood

Abdomen Liver:
hepatomegaly
cirrhosis
bile duct proliferation
fibrosis
hepatic glycogen accumulation

Muscle Soft Tissue:
hypotonia

Neurologic Central Nervous System:
mildly delayed motor development

Clinical features from OMIM®:

613027 (Updated 20-May-2021)

Drugs & Therapeutics for Glycogen Storage Disease Ixc

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

Genetic Tests for Glycogen Storage Disease Ixc

Genetic tests related to Glycogen Storage Disease Ixc:

# Genetic test Affiliating Genes
1 Glycogen Storage Disease Ixc 29 PHKG2

Anatomical Context for Glycogen Storage Disease Ixc

MalaCards organs/tissues related to Glycogen Storage Disease Ixc:

40
Liver, Skeletal Muscle, Testis, Bone Marrow, Bone, Spinal Cord, Kidney

Publications for Glycogen Storage Disease Ixc

Articles related to Glycogen Storage Disease Ixc:

(show all 15)
# Title Authors PMID Year
1
Variability of disease spectrum in children with liver phosphorylase kinase deficiency caused by mutations in the PHKG2 gene. 6 57
24389071 2014
2
Severe phenotype of phosphorylase kinase-deficient liver glycogenosis with mutations in the PHKG2 gene. 57 6
12930917 2003
3
Phosphorylase kinase deficient liver glycogenosis: progression to cirrhosis in infancy associated with PHKG2 mutations (H144Y and L225R) 6 57
10905889 2000
4
Liver glycogenosis due to phosphorylase kinase deficiency: PHKG2 gene structure and mutations associated with cirrhosis. 6 57
9384616 1998
5
Mutations in the testis/liver isoform of the phosphorylase kinase gamma subunit (PHKG2) cause autosomal liver glycogenosis in the gsd rat and in humans. 57 6
8896567 1996
6
A female case of type VIII glycogenosis who developed cirrhosis of the liver and hepatocellular tumor. 57 6
2558039 1989
7
Phosphorylase kinase deficiency: severe glycogen storage disease with evidence of autosomal recessive mode of inheritance. 6 57
6962066 1982
8
Benign or not benign? Deep phenotyping of liver Glycogen Storage Disease IX. 57
33317799 2020
9
The natural history of glycogen storage disease types VI and IX: Long-term outcome from the largest metabolic center in Canada. 57
25266922 2014
10
Glycogen storage disease type IX: High variability in clinical phenotype. 57
17689125 2007
11
Phosphorylase b kinase deficiency glycogenosis with cirrhosis of the liver. 6
7562285 1995
12
The glycogen storage disease (gsd/gsd) rat. 57
3293925 1988
13
A new variant of glycogen storage disease. Type IXc. 57
6952760 1982
14
Glycogen-storage disease in rats, a genetically determined deficiency of liver phosphorylase kinase. 57
6931596 1980
15
Whole exome sequencing unravels disease-causing genes in consanguineous families in Qatar. 61
24102521 2014

Variations for Glycogen Storage Disease Ixc

ClinVar genetic disease variations for Glycogen Storage Disease Ixc:

6 (show top 50) (show all 78)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PHKG2 NM_000294.3(PHKG2):c.671_672delinsAA (p.Phe224Ter) Indel Pathogenic 538172 rs1555467557 GRCh37: 16:30767711-30767712
GRCh38: 16:30756390-30756391
2 PHKG2 NM_000294.3(PHKG2):c.316_317GT[1] (p.Val106_Phe107insTer) Microsatellite Pathogenic 538173 rs1555467052 GRCh37: 16:30762914-30762915
GRCh38: 16:30751593-30751594
3 PHKG2 NM_000294.3(PHKG2):c.250del (p.Val84fs) Deletion Pathogenic 566399 rs1567260747 GRCh37: 16:30762580-30762580
GRCh38: 16:30751259-30751259
4 PHKG2 NM_000294.3(PHKG2):c.677T>G (p.Leu226Arg) SNV Pathogenic 13631 rs137853592 GRCh37: 16:30767717-30767717
GRCh38: 16:30756396-30756396
5 PHKG2 NM_000294.3(PHKG2):c.433C>T (p.His145Tyr) SNV Pathogenic 13630 rs137853591 GRCh37: 16:30764755-30764755
GRCh38: 16:30753434-30753434
6 PHKG2 NM_000294.3(PHKG2):c.277del (p.Leu93fs) Deletion Pathogenic 13629 rs1596680941 GRCh37: 16:30762873-30762873
GRCh38: 16:30751552-30751552
7 PHKG2 NM_000294.3(PHKG2):c.130C>T (p.Arg44Ter) SNV Pathogenic 13628 rs137853590 GRCh37: 16:30762461-30762461
GRCh38: 16:30751140-30751140
8 PHKG2 NM_000294.3(PHKG2):c.317T>A (p.Val106Glu) SNV Pathogenic 13627 rs137853589 GRCh37: 16:30762915-30762915
GRCh38: 16:30751594-30751594
9 PHKG2 NM_000294.3(PHKG2):c.566G>A (p.Gly189Glu) SNV Pathogenic 13626 rs137853588 GRCh37: 16:30767512-30767512
GRCh38: 16:30756191-30756191
10 PHKG2 PHKG2, 1-BP INS Insertion Pathogenic 13625 GRCh37:
GRCh38:
11 PHKG2 NM_000294.3(PHKG2):c.553C>T (p.Arg185Ter) SNV Pathogenic 577568 rs1270523244 GRCh37: 16:30764875-30764875
GRCh38: 16:30753554-30753554
12 PHKG2 NM_000294.3(PHKG2):c.783del (p.Ser262fs) Deletion Pathogenic 694642 rs1372753669 GRCh37: 16:30767822-30767822
GRCh38: 16:30756501-30756501
13 PHKG2 NM_000294.3(PHKG2):c.657del (p.Cys219fs) Deletion Pathogenic 803250 rs1596687555 GRCh37: 16:30767697-30767697
GRCh38: 16:30756376-30756376
14 PHKG2 NM_000294.3(PHKG2):c.22G>T (p.Glu8Ter) SNV Pathogenic 947470 GRCh37: 16:30760163-30760163
GRCh38: 16:30748842-30748842
15 PHKG2 NM_000294.3(PHKG2):c.745C>T (p.Gln249Ter) SNV Pathogenic 953651 GRCh37: 16:30767785-30767785
GRCh38: 16:30756464-30756464
16 PHKG2 NM_000294.3(PHKG2):c.553C>T (p.Arg185Ter) SNV Pathogenic 577568 rs1270523244 GRCh37: 16:30764875-30764875
GRCh38: 16:30753554-30753554
17 PHKG2 NM_000294.3(PHKG2):c.229G>A (p.Glu77Lys) SNV Pathogenic 998117 GRCh37: 16:30762560-30762560
GRCh38: 16:30751239-30751239
18 PHKG2 NM_000294.3(PHKG2):c.539del (p.Pro180fs) Deletion Pathogenic 998118 GRCh37: 16:30764860-30764860
GRCh38: 16:30753539-30753539
19 PHKG2 NM_000294.3(PHKG2):c.643G>A (p.Asp215Asn) SNV Pathogenic 998119 GRCh37: 16:30767589-30767589
GRCh38: 16:30756268-30756268
20 PHKG2 NM_000294.3(PHKG2):c.1070T>C (p.Leu357Pro) SNV Likely pathogenic 803251 rs762089284 GRCh37: 16:30768267-30768267
GRCh38: 16:30756946-30756946
21 PHKG2 NM_000294.3(PHKG2):c.661G>A (p.Val221Met) SNV Likely pathogenic 694643 rs1596687577 GRCh37: 16:30767701-30767701
GRCh38: 16:30756380-30756380
22 PHKG2 NM_000294.3(PHKG2):c.454C>T (p.Arg152Ter) SNV Likely pathogenic 973563 GRCh37: 16:30764776-30764776
GRCh38: 16:30753455-30753455
23 PHKG2 NM_000294.3(PHKG2):c.1137T>C (p.Pro379=) SNV Conflicting interpretations of pathogenicity 255780 rs61731628 GRCh37: 16:30768334-30768334
GRCh38: 16:30757013-30757013
24 PHKG2 NM_000294.3(PHKG2):c.393G>A (p.Arg131=) SNV Conflicting interpretations of pathogenicity 318937 rs55751949 GRCh37: 16:30764715-30764715
GRCh38: 16:30753394-30753394
25 PHKG2 NM_000294.3(PHKG2):c.585G>A (p.Ala195=) SNV Conflicting interpretations of pathogenicity 255785 rs187710792 GRCh37: 16:30767531-30767531
GRCh38: 16:30756210-30756210
26 PHKG2 NM_000294.3(PHKG2):c.921G>T (p.Arg307=) SNV Conflicting interpretations of pathogenicity 386281 rs201113602 GRCh37: 16:30768030-30768030
GRCh38: 16:30756709-30756709
27 PHKG2 NM_000294.3(PHKG2):c.360A>G (p.Thr120=) SNV Conflicting interpretations of pathogenicity 388646 rs149163610 GRCh37: 16:30764586-30764586
GRCh38: 16:30753265-30753265
28 PHKG2 NM_000294.3(PHKG2):c.288C>T (p.Ser96=) SNV Conflicting interpretations of pathogenicity 255783 rs56029513 GRCh37: 16:30762886-30762886
GRCh38: 16:30751565-30751565
29 PHKG2 NM_000294.3(PHKG2):c.324C>T (p.Asp108=) SNV Conflicting interpretations of pathogenicity 318936 rs138416154 GRCh37: 16:30762922-30762922
GRCh38: 16:30751601-30751601
30 PHKG2 NM_000294.3(PHKG2):c.608T>C (p.Met203Thr) SNV Uncertain significance 884269 GRCh37: 16:30767554-30767554
GRCh38: 16:30756233-30756233
31 PHKG2 NM_000294.3(PHKG2):c.1054A>G (p.Asn352Asp) SNV Uncertain significance 884270 GRCh37: 16:30768251-30768251
GRCh38: 16:30756930-30756930
32 PHKG2 NM_000294.3(PHKG2):c.1077G>A (p.Gly359=) SNV Uncertain significance 884271 GRCh37: 16:30768274-30768274
GRCh38: 16:30756953-30756953
33 PHKG2 NM_001172432.1(PHKG2):c.-162C>T SNV Uncertain significance 885327 GRCh37: 16:30759668-30759668
GRCh38: 16:30748347-30748347
34 PHKG2 NM_001172432.1(PHKG2):c.-118G>A SNV Uncertain significance 886234 GRCh37: 16:30759712-30759712
GRCh38: 16:30748391-30748391
35 PHKG2 NM_000294.3(PHKG2):c.-76G>C SNV Uncertain significance 886235 GRCh37: 16:30759754-30759754
GRCh38: 16:30748433-30748433
36 PHKG2 NM_000294.3(PHKG2):c.-3A>G SNV Uncertain significance 886236 GRCh37: 16:30760139-30760139
GRCh38: 16:30748818-30748818
37 PHKG2 NM_000294.3(PHKG2):c.*22C>T SNV Uncertain significance 886306 GRCh37: 16:30768440-30768440
GRCh38: 16:30757119-30757119
38 PHKG2 NM_000294.3(PHKG2):c.*47G>A SNV Uncertain significance 886307 GRCh37: 16:30768465-30768465
GRCh38: 16:30757144-30757144
39 PHKG2 NM_000294.3(PHKG2):c.96-7C>G SNV Uncertain significance 887237 GRCh37: 16:30762420-30762420
GRCh38: 16:30751099-30751099
40 PHKG2 NM_000294.3(PHKG2):c.139G>A (p.Gly47Ser) SNV Uncertain significance 887238 GRCh37: 16:30762470-30762470
GRCh38: 16:30751149-30751149
41 PHKG2 NM_000294.3(PHKG2):c.556+11C>G SNV Uncertain significance 888492 GRCh37: 16:30764889-30764889
GRCh38: 16:30753568-30753568
42 PHKG2 NM_000294.3(PHKG2):c.271+6G>A SNV Uncertain significance 939224 GRCh37: 16:30762608-30762608
GRCh38: 16:30751287-30751287
43 PHKG2 NM_000294.3(PHKG2):c.127C>T (p.His43Tyr) SNV Uncertain significance 943254 GRCh37: 16:30762458-30762458
GRCh38: 16:30751137-30751137
44 PHKG2 NM_000294.3(PHKG2):c.541G>A (p.Gly181Ser) SNV Uncertain significance 946120 GRCh37: 16:30764863-30764863
GRCh38: 16:30753542-30753542
45 PHKG2 NM_000294.3(PHKG2):c.158_160del (p.Lys53del) Deletion Uncertain significance 947469 GRCh37: 16:30762487-30762489
GRCh38: 16:30751166-30751168
46 PHKG2 NM_000294.3(PHKG2):c.985C>T (p.Arg329Trp) SNV Uncertain significance 1029779 GRCh37: 16:30768182-30768182
GRCh38: 16:30756861-30756861
47 PHKG2 NM_000294.3(PHKG2):c.646C>A (p.Leu216Ile) SNV Uncertain significance 1032296 GRCh37: 16:30767592-30767592
GRCh38: 16:30756271-30756271
48 PHKG2 NM_000294.3(PHKG2):c.927+13G>A SNV Uncertain significance 1032297 GRCh37: 16:30768049-30768049
GRCh38: 16:30756728-30756728
49 PHKG2 NM_000294.3(PHKG2):c.959G>A (p.Arg320Gln) SNV Uncertain significance 834218 GRCh37: 16:30768156-30768156
GRCh38: 16:30756835-30756835
50 PHKG2 NM_000294.3(PHKG2):c.958C>T (p.Arg320Ter) SNV Uncertain significance 840479 GRCh37: 16:30768155-30768155
GRCh38: 16:30756834-30756834

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

72
# Symbol AA change Variation ID SNP ID
1 PHKG2 p.Val106Glu VAR_009517 rs137853589
2 PHKG2 p.Gly189Glu VAR_009518 rs137853588
3 PHKG2 p.Glu157Lys VAR_020854 rs752961445
4 PHKG2 p.Asp215Asn VAR_020855 rs767427889

Expression for Glycogen Storage Disease Ixc

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

Pathways for Glycogen Storage Disease Ixc

GO Terms for Glycogen Storage Disease Ixc

Sources for Glycogen Storage Disease Ixc

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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