GSD1C
MCID: GLY017
MIFTS: 32

Glycogen Storage Disease Ic (GSD1C)

Categories: Blood diseases, Bone diseases, Cardiovascular diseases, Endocrine diseases, Genetic diseases, Liver diseases, Metabolic diseases, Muscle diseases, Nephrological diseases, Neuronal diseases, Rare diseases
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Aliases & Classifications for Glycogen Storage Disease Ic

MalaCards integrated aliases for Glycogen Storage Disease Ic:

Name: Glycogen Storage Disease Ic 57 73 12 5 71
Gsd1c 57 73
Glycogen Storage Disease, Type Ic 38
Glycogen Storage Disease Type 1c 75
Glycogen Storage Disease Type Id 71
Glycogen Storage Disease 1c 73
Glycogen Storage Disease 1d 73
Glycogen Storage Disease Id 73
Gsd Ic 57
Gsd-Ic 73
Gsd-Id 73
Gsd1d 73

Characteristics:


Inheritance:

Autosomal recessive 57

Classifications:



Summaries for Glycogen Storage Disease Ic

UniProtKB/Swiss-Prot 73 Glycogen storage disease 1c: A metabolic disorder characterized by impairment of terminal steps of glycogenolysis and gluconeogenesis. Patients manifest a wide range of clinical symptoms and biochemical abnormalities, including hypoglycemia, severe hepatomegaly due to excessive accumulation of glycogen, kidney enlargement, growth retardation, lactic acidemia, hyperlipidemia, and hyperuricemia.

Glycogen storage disease 1d: A metabolic disorder characterized by impairment of terminal steps of glycogenolysis and gluconeogenesis. Patients manifest a wide range of clinical symptoms and biochemical abnormalities, including hypoglycemia, severe hepatomegaly due to excessive accumulation of glycogen, kidney enlargement, growth retardation, lactic acidemia, hyperlipidemia, and hyperuricemia.

MalaCards based summary: Glycogen Storage Disease Ic, also known as gsd1c, is related to glycogen storage disease and glycogen storage disease ia. An important gene associated with Glycogen Storage Disease Ic is SLC37A4 (Solute Carrier Family 37 Member 4). Affiliated tissues include liver, kidney and neutrophil, and related phenotypes are hypertension and hepatomegaly

Wikipedia: 75 Glycogen storage disease type I (GSD I) is an inherited disease that results in the liver being unable... more...

More information from OMIM: 232240

Related Diseases for Glycogen Storage Disease Ic

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



Diseases related to Glycogen Storage Disease Ic

Symptoms & Phenotypes for Glycogen Storage Disease Ic

Human phenotypes related to Glycogen Storage Disease Ic:

30 (show all 22)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertension 30 HP:0000822
2 hepatomegaly 30 HP:0002240
3 proteinuria 30 HP:0000093
4 delayed puberty 30 HP:0000823
5 renal insufficiency 30 HP:0000083
6 hypoglycemia 30 HP:0001943
7 hyperuricemia 30 HP:0002149
8 hematuria 30 HP:0000790
9 hyperlipidemia 30 HP:0003077
10 gout 30 HP:0001997
11 pulmonary arterial hypertension 30 HP:0002092
12 hepatoblastoma 30 HP:0002884
13 lactic acidosis 30 HP:0003128
14 metabolic acidosis 30 HP:0001942
15 xanthomatosis 30 HP:0000991
16 decreased glomerular filtration rate 30 HP:0012213
17 hepatocellular carcinoma 30 HP:0001402
18 xanthelasma 30 HP:0001114
19 focal segmental glomerulosclerosis 30 HP:0000097
20 spider hemangioma 30 HP:0012522
21 chronic pancreatitis 30 HP:0006280
22 hyperketonemia 30 HP:0410175

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Endo:
hypertension
hypoglycemia

G U:
proteinuria
renal insufficiency
hematuria
focal segmental glomerulosclerosis
reduced creatinine clearance

Pulmonary:
pulmonary hypertension

Skin:
xanthoma
spider angioma
gouty tophi

Heme:
no leukocyte dysfunction

G I:
hepatomegaly
hepatoblastoma
hepatocellular carcinoma
chronic pancreatitis
liver adenomas

Lab:
hyperuricemia
metabolic acidosis
ketonemia
t2 transport protein (phosphate-pyrophosphate translocase) defect
lipidemia
more
Joints:
gouty arthritis

Growth:
growth lag
delalyed puberty

Clinical features from OMIM®:

232240 (Updated 08-Dec-2022)

Drugs & Therapeutics for Glycogen Storage Disease Ic

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

Genetic Tests for Glycogen Storage Disease Ic

Anatomical Context for Glycogen Storage Disease Ic

Organs/tissues related to Glycogen Storage Disease Ic:

MalaCards : Liver, Kidney, Neutrophil
ODiseA: Kidney

Publications for Glycogen Storage Disease Ic

Articles related to Glycogen Storage Disease Ic:

(show all 18)
# Title Authors PMID Year
1
Molecular diagnosis of type 1c glycogen storage disease. 57 5
10323254 1999
2
A gene on chromosome 11q23 coding for a putative glucose- 6-phosphate translocase is mutated in glycogen-storage disease types Ib and Ic. 57 5
9758626 1998
3
Localisation of the gene for glycogen storage disease type 1c by homozygosity mapping to 11q. 57 5
9598717 1998
4
Type-1c glycogen storage disease is not caused by mutations in the glucose-6-phosphate transporter gene. 57
10598822 1999
5
Molecular analysis of glycogen storage disease type Ib: identification of a prevalent mutation among Japanese patients and assignment of a putative glucose-6-phosphate translocase gene to chromosome 11. 5
9675154 1998
6
Neutropenia and neutrophil dysfunction in glycogen storage disease type 1c. 57
9686363 1998
7
The gene for glycogen-storage disease type 1b maps to chromosome 11q23. 57
9463334 1998
8
Sequence of a putative glucose 6-phosphate translocase, mutated in glycogen storage disease type Ib. 57
9428641 1997
9
Diagnosis of type 1B and 1C glycogen storage disease. 57
1663192 1991
10
Molecular pathology of glucose-6-phosphatase. 57
2168325 1990
11
Diagnosis of type 1a and type 1c glycogen storage diseases in adults. 57
2883397 1987
12
Type Ic, a novel glycogenosis. Underlying mechanism. 57
6309784 1983
13
Evidence for the participation of independent translocation for phosphate and glucose 6-phosphate in the microsomal glucose-6-phosphatase system. Interactions of the system with orthophosphate, inorganic pyrophosphate, and carbamyl phosphate. 57
6253473 1980
14
The glucose-6-phosphate transporter is a phosphate-linked antiporter deficient in glycogen storage disease type Ib and Ic. 62
18337460 2008
15
NPT4, a new microsomal phosphate transporter: mutation analysis in glycogen storage disease type Ic. 62
15505377 2004
16
Historical highlights and unsolved problems in glycogen storage disease type 1. 62
12373565 2002
17
How many forms of glycogen storage disease type I? 62
10834514 2000
18
The putative glucose 6-phosphate translocase gene is mutated in essentially all cases of glycogen storage disease type I non-a. 62
10482962 1999

Variations for Glycogen Storage Disease Ic

ClinVar genetic disease variations for Glycogen Storage Disease Ic:

5 (show all 20)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SLC37A4 NM_001164277.2(SLC37A4):c.1243C>T (p.Arg415Ter) SNV Pathogenic
6934 rs121908979 GRCh37: 11:118895667-118895667
GRCh38: 11:119024957-119024957
2 SLC37A4 NM_001164277.2(SLC37A4):c.148+1G>A SNV Pathogenic
6932 GRCh37: 11:118899931-118899931
GRCh38: 11:119029221-119029221
3 SLC37A4 NM_001164277.2(SLC37A4):c.287G>A (p.Trp96Ter) SNV Pathogenic
6928 rs121908976 GRCh37: 11:118898998-118898998
GRCh38: 11:119028288-119028288
4 SLC37A4 NM_001164277.2(SLC37A4):c.1124+3_1124+6del DEL Pathogenic
1301338 GRCh37: 11:118895895-118895898
GRCh38: 11:119025185-119025188
5 SLC37A4 NM_001164277.2(SLC37A4):c.923_934dup (p.Met308_Met311dup) DUP Pathogenic
188799 rs786204477 GRCh37: 11:118896726-118896727
GRCh38: 11:119026016-119026017
6 SLC37A4 NM_001164277.2(SLC37A4):c.1042_1043del (p.Leu348fs) DEL Pathogenic
Pathogenic
6926 rs80356491 GRCh37: 11:118895981-118895982
GRCh38: 11:119025271-119025272
7 SLC37A4 NM_001164277.2(SLC37A4):c.963_964del (p.Val322fs) DEL Likely Pathogenic
800776 rs1592109970 GRCh37: 11:118896697-118896698
GRCh38: 11:119025987-119025988
8 SLC37A4 NM_001164277.2(SLC37A4):c.496C>T (p.Arg166Cys) SNV Uncertain Significance
827988 rs11552539 GRCh37: 11:118898468-118898468
GRCh38: 11:119027758-119027758
9 SLC37A4 NM_001164277.2(SLC37A4):c.711T>G (p.Phe237Leu) SNV Uncertain Significance
1209841 GRCh37: 11:118897720-118897720
GRCh38: 11:119027010-119027010
10 SLC37A4 NM_001164277.2(SLC37A4):c.1004G>A (p.Gly335Glu) SNV Uncertain Significance
663384 rs1326123837 GRCh37: 11:118896020-118896020
GRCh38: 11:119025310-119025310
11 SLC37A4 NM_001164277.2(SLC37A4):c.467C>T (p.Ala156Val) SNV Uncertain Significance
215177 rs201036248 GRCh37: 11:118898497-118898497
GRCh38: 11:119027787-119027787
12 SLC37A4 NM_001164277.2(SLC37A4):c.497G>A (p.Arg166His) SNV Uncertain Significance
215178 rs186476316 GRCh37: 11:118898467-118898467
GRCh38: 11:119027757-119027757
13 SLC37A4 NM_001164277.2(SLC37A4):c.556C>T (p.Leu186Phe) SNV Uncertain Significance
595016 rs538938823 GRCh37: 11:118898407-118898407
GRCh38: 11:119027697-119027697
14 SLC37A4 NM_001164277.2(SLC37A4):c.943A>G (p.Met315Val) SNV Uncertain Significance
1038940 rs782475284 GRCh37: 11:118896718-118896718
GRCh38: 11:119026008-119026008
15 SLC37A4 NM_001164277.2(SLC37A4):c.1275C>T (p.Ser425=) SNV Benign
139193 rs35010541 GRCh37: 11:118895635-118895635
GRCh38: 11:119024925-119024925
16 SLC37A4 NM_001164277.2(SLC37A4):c.1224G>A (p.Thr408=) SNV Benign
139192 rs8192696 GRCh37: 11:118895686-118895686
GRCh38: 11:119024976-119024976
17 SLC37A4 NM_001164277.2(SLC37A4):c.1062C>T (p.Asn354=) SNV Benign
139191 rs61730035 GRCh37: 11:118895962-118895962
GRCh38: 11:119025252-119025252
18 SLC37A4 NM_001164277.2(SLC37A4):c.626+19C>T SNV Benign
139190 rs741811 GRCh37: 11:118898319-118898319
GRCh38: 11:119027609-119027609
19 SLC37A4 NM_001164277.2(SLC37A4):c.626+14C>T SNV Benign
139189 rs56394886 GRCh37: 11:118898324-118898324
GRCh38: 11:119027614-119027614
20 SLC37A4 NM_001164277.2(SLC37A4):c.149-14A>G SNV Benign
139186 rs79849261 GRCh37: 11:118899150-118899150
GRCh38: 11:119028440-119028440

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

73
# Symbol AA change Variation ID SNP ID
1 SLC37A4 p.Gln133Pro VAR_025591 rs193302896
2 SLC37A4 p.Gly376Ser VAR_025604 rs193302897

Expression for Glycogen Storage Disease Ic

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

Pathways for Glycogen Storage Disease Ic

GO Terms for Glycogen Storage Disease Ic

Sources for Glycogen Storage Disease Ic

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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