GSD9C
MCID: GLY044
MIFTS: 38

Glycogen Storage Disease Ixc (GSD9C)

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 Ixc

MalaCards integrated aliases for Glycogen Storage Disease Ixc:

Name: Glycogen Storage Disease Ixc 57 12 75 29 13 6 15 73
Gsd9c 57 12 75
Storage Disease, Glycogen, Type Ixc 40
Glycogen Storage Disease Type Ixc 12
Glycogen Storage Disease Type 9c 12
Autosomal Liver Glycogenosis 75
Glycogen Storage Disease 9c 75
Glycogenosis Type Ixc 12
Glycogenosis Type 9c 12
Gsd Type Ixc 12
Gsd Type 9c 12
Gsd Ixc 57
Gsd-Ixc 75
Alg 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
glycogen storage disease ixc:
Onset and clinical course infantile onset
Inheritance autosomal recessive inheritance


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 alagille syndrome 1 and glycogen storage disease due to liver phosphorylase kinase deficiency. An important gene associated with Glycogen Storage Disease Ixc is PHKG2 (Phosphorylase Kinase Catalytic Subunit Gamma 2). Affiliated tissues include liver, bone and skeletal muscle, and related phenotypes are muscular hypotonia and splenomegaly

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)

UniProtKB/Swiss-Prot : 75 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

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

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Glycogen Storage Disease Ixc:

32 (show all 13)
# Description HPO Frequency HPO Source Accession
1 muscular hypotonia 32 HP:0001252
2 splenomegaly 32 HP:0001744
3 hepatomegaly 32 HP:0002240
4 hypertriglyceridemia 32 HP:0002155
5 growth delay 32 HP:0001510
6 cirrhosis 32 HP:0001394
7 lactic acidosis 32 HP:0003128
8 motor delay 32 HP:0001270
9 generalized hypotonia 32 HP:0001290
10 ketosis 32 HP:0001946
11 fasting hypoglycemia 32 HP:0003162
12 bile duct proliferation 32 HP:0001408
13 elevated hepatic transaminase 32 HP:0002910

MGI Mouse Phenotypes related to Glycogen Storage Disease Ixc:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 adipose tissue MP:0005375 9.54 IDUA NSUN2 PHEX
2 craniofacial MP:0005382 9.5 IDUA NSUN2 PHEX
3 hematopoietic system MP:0005397 9.46 IDUA NSUN2 PHEX PHKG2
4 hearing/vestibular/ear MP:0005377 9.43 IDUA NSUN2 PHEX
5 limbs/digits/tail MP:0005371 9.13 IDUA NSUN2 PHEX
6 liver/biliary system MP:0005370 8.8 IDUA NSUN2 PHEX

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:

41
Liver, Bone, Skeletal Muscle, Bone Marrow

Publications for Glycogen Storage Disease Ixc

Articles related to Glycogen Storage Disease Ixc:

# Title Authors Year
1
PHKG2 mutation spectrum in glycogen storage disease type IXc: a case report and review of the literature. ( 29360628 )
2018

Variations for Glycogen Storage Disease Ixc

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

75
# 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

ClinVar genetic disease variations for Glycogen Storage Disease Ixc:

6 (show all 40)
# Gene Variation Type Significance SNP ID Assembly Location
1 PHKG2 PHKG2, 1-BP INS insertion Pathogenic
2 PHKG2 NM_000294.2(PHKG2): c.566G> A (p.Gly189Glu) single nucleotide variant Pathogenic rs137853588 GRCh37 Chromosome 16, 30767512: 30767512
3 PHKG2 NM_000294.2(PHKG2): c.566G> A (p.Gly189Glu) single nucleotide variant Pathogenic rs137853588 GRCh38 Chromosome 16, 30756191: 30756191
4 PHKG2 NM_000294.2(PHKG2): c.317T> A (p.Val106Glu) single nucleotide variant Pathogenic rs137853589 GRCh37 Chromosome 16, 30762915: 30762915
5 PHKG2 NM_000294.2(PHKG2): c.317T> A (p.Val106Glu) single nucleotide variant Pathogenic rs137853589 GRCh38 Chromosome 16, 30751594: 30751594
6 PHKG2 NM_000294.2(PHKG2): c.130C> T (p.Arg44Ter) single nucleotide variant Pathogenic rs137853590 GRCh37 Chromosome 16, 30762461: 30762461
7 PHKG2 NM_000294.2(PHKG2): c.130C> T (p.Arg44Ter) single nucleotide variant Pathogenic rs137853590 GRCh38 Chromosome 16, 30751140: 30751140
8 PHKG2 PHKG2, 1-BP DEL, 277C deletion Pathogenic
9 PHKG2 NM_000294.2(PHKG2): c.433C> T (p.His145Tyr) single nucleotide variant Pathogenic rs137853591 GRCh37 Chromosome 16, 30764755: 30764755
10 PHKG2 NM_000294.2(PHKG2): c.433C> T (p.His145Tyr) single nucleotide variant Pathogenic rs137853591 GRCh38 Chromosome 16, 30753434: 30753434
11 PHKG2 NM_000294.2(PHKG2): c.677T> G (p.Leu226Arg) single nucleotide variant Pathogenic rs137853592 GRCh37 Chromosome 16, 30767717: 30767717
12 PHKG2 NM_000294.2(PHKG2): c.677T> G (p.Leu226Arg) single nucleotide variant Pathogenic rs137853592 GRCh38 Chromosome 16, 30756396: 30756396
13 PHKG2 NM_000294.2(PHKG2): c.174A> T (p.Thr58=) single nucleotide variant Conflicting interpretations of pathogenicity rs56207641 GRCh37 Chromosome 16, 30762505: 30762505
14 PHKG2 NM_000294.2(PHKG2): c.174A> T (p.Thr58=) single nucleotide variant Conflicting interpretations of pathogenicity rs56207641 GRCh38 Chromosome 16, 30751184: 30751184
15 PHKG2 NM_000294.2(PHKG2): c.1137T> C (p.Pro379=) single nucleotide variant Conflicting interpretations of pathogenicity rs61731628 GRCh37 Chromosome 16, 30768334: 30768334
16 PHKG2 NM_000294.2(PHKG2): c.1137T> C (p.Pro379=) single nucleotide variant Conflicting interpretations of pathogenicity rs61731628 GRCh38 Chromosome 16, 30757013: 30757013
17 PHKG2 NM_000294.2(PHKG2): c.324C> T (p.Asp108=) single nucleotide variant Conflicting interpretations of pathogenicity rs138416154 GRCh38 Chromosome 16, 30751601: 30751601
18 PHKG2 NM_000294.2(PHKG2): c.324C> T (p.Asp108=) single nucleotide variant Conflicting interpretations of pathogenicity rs138416154 GRCh37 Chromosome 16, 30762922: 30762922
19 PHKG2 NM_000294.2(PHKG2): c.360A> G (p.Thr120=) single nucleotide variant Likely benign rs149163610 GRCh37 Chromosome 16, 30764586: 30764586
20 PHKG2 NM_000294.2(PHKG2): c.360A> G (p.Thr120=) single nucleotide variant Likely benign rs149163610 GRCh38 Chromosome 16, 30753265: 30753265
21 PHKG2 NM_000294.2(PHKG2): c.1051G> A (p.Asp351Asn) single nucleotide variant Uncertain significance rs151033581 GRCh37 Chromosome 16, 30768248: 30768248
22 PHKG2 NM_000294.2(PHKG2): c.1051G> A (p.Asp351Asn) single nucleotide variant Uncertain significance rs151033581 GRCh38 Chromosome 16, 30756927: 30756927
23 PHKG2 NM_000294.2(PHKG2): c.214G> A (p.Glu72Lys) single nucleotide variant Uncertain significance rs753644625 GRCh37 Chromosome 16, 30762545: 30762545
24 PHKG2 NM_000294.2(PHKG2): c.214G> A (p.Glu72Lys) single nucleotide variant Uncertain significance rs753644625 GRCh38 Chromosome 16, 30751224: 30751224
25 PHKG2 NM_000294.2(PHKG2): c.318_319delGT (p.Phe107Terfs) deletion Pathogenic GRCh37 Chromosome 16, 30762916: 30762917
26 PHKG2 NM_000294.2(PHKG2): c.318_319delGT (p.Phe107Terfs) deletion Pathogenic GRCh38 Chromosome 16, 30751595: 30751596
27 PHKG2 NM_000294.2(PHKG2): c.253G> A (p.Ala85Thr) single nucleotide variant Uncertain significance rs535265672 GRCh38 Chromosome 16, 30751263: 30751263
28 PHKG2 NM_000294.2(PHKG2): c.253G> A (p.Ala85Thr) single nucleotide variant Uncertain significance rs535265672 GRCh37 Chromosome 16, 30762584: 30762584
29 PHKG2 NM_000294.2(PHKG2): c.671_672delTCinsAA (p.Phe224Ter) indel Pathogenic GRCh37 Chromosome 16, 30767711: 30767712
30 PHKG2 NM_000294.2(PHKG2): c.671_672delTCinsAA (p.Phe224Ter) indel Pathogenic GRCh38 Chromosome 16, 30756390: 30756391
31 PHKG2 NM_000294.2(PHKG2): c.553C> T (p.Arg185Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 16, 30753554: 30753554
32 PHKG2 NM_000294.2(PHKG2): c.553C> T (p.Arg185Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 16, 30764875: 30764875
33 PHKG2 NM_000294.2(PHKG2): c.920G> A (p.Arg307Gln) single nucleotide variant Uncertain significance rs145390070 GRCh38 Chromosome 16, 30756708: 30756708
34 PHKG2 NM_000294.2(PHKG2): c.920G> A (p.Arg307Gln) single nucleotide variant Uncertain significance rs145390070 GRCh37 Chromosome 16, 30768029: 30768029
35 PHKG2 NM_000294.2(PHKG2): c.250delG (p.Val84Serfs) deletion Pathogenic GRCh37 Chromosome 16, 30762581: 30762581
36 PHKG2 NM_000294.2(PHKG2): c.250delG (p.Val84Serfs) deletion Pathogenic GRCh38 Chromosome 16, 30751260: 30751260
37 PHKG2 NM_000294.2(PHKG2): c.907A> G (p.Thr303Ala) single nucleotide variant Uncertain significance rs780358808 GRCh37 Chromosome 16, 30768016: 30768016
38 PHKG2 NM_000294.2(PHKG2): c.907A> G (p.Thr303Ala) single nucleotide variant Uncertain significance rs780358808 GRCh38 Chromosome 16, 30756695: 30756695
39 PHKG2 NM_000294.2(PHKG2): c.224G> A (p.Arg75Gln) single nucleotide variant Uncertain significance rs538127151 GRCh38 Chromosome 16, 30751234: 30751234
40 PHKG2 NM_000294.2(PHKG2): c.224G> A (p.Arg75Gln) single nucleotide variant Uncertain significance rs538127151 GRCh37 Chromosome 16, 30762555: 30762555

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

Biological processes related to Glycogen Storage Disease Ixc according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 carbohydrate metabolic process GO:0005975 8.62 IDUA PHKG2

Sources for Glycogen Storage Disease Ixc

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
Content
Loading form....