GSD1C
MCID: GLY017
MIFTS: 30

Glycogen Storage Disease Ic (GSD1C)

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 Ic

MalaCards integrated aliases for Glycogen Storage Disease Ic:

Name: Glycogen Storage Disease Ic 57 72 13 6 70
Gsd1c 57 72
Glycogen Storage Disease, Type Ic 39
Glycogen Storage Disease Type 1c 73
Glycogen Storage Disease Type Id 70
Glycogen Storage Disease 1c 72
Glycogen Storage Disease 1d 72
Glycogen Storage Disease Id 72
Gsd Ic 57
Gsd-Ic 72
Gsd-Id 72
Gsd1d 72

Characteristics:

OMIM®:

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


HPO:

31
glycogen storage disease ic:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Glycogen Storage Disease Ic

UniProtKB/Swiss-Prot : 72 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 : 73 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:

31 (show all 22)
# Description HPO Frequency HPO Source Accession
1 hypertension 31 HP:0000822
2 hepatomegaly 31 HP:0002240
3 proteinuria 31 HP:0000093
4 delayed puberty 31 HP:0000823
5 renal insufficiency 31 HP:0000083
6 hypoglycemia 31 HP:0001943
7 hyperuricemia 31 HP:0002149
8 hematuria 31 HP:0000790
9 hyperlipidemia 31 HP:0003077
10 gout 31 HP:0001997
11 pulmonary arterial hypertension 31 HP:0002092
12 hepatoblastoma 31 HP:0002884
13 lactic acidosis 31 HP:0003128
14 metabolic acidosis 31 HP:0001942
15 xanthomatosis 31 HP:0000991
16 xanthelasma 31 HP:0001114
17 hepatocellular carcinoma 31 HP:0001402
18 focal segmental glomerulosclerosis 31 HP:0000097
19 decreased glomerular filtration rate 31 HP:0012213
20 spider hemangioma 31 HP:0012522
21 chronic pancreatitis 31 HP:0006280
22 hyperketonemia 31 HP:0410175

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
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 20-May-2021)

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

MalaCards organs/tissues related to Glycogen Storage Disease Ic:

40
Liver, Kidney, Neutrophil

Publications for Glycogen Storage Disease Ic

Articles related to Glycogen Storage Disease Ic:

(show all 14)
# Title Authors PMID Year
1
Molecular diagnosis of type 1c glycogen storage disease. 57 6
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 6
9758626 1998
3
Localisation of the gene for glycogen storage disease type 1c by homozygosity mapping to 11q. 57 6
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. 6
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
Historical highlights and unsolved problems in glycogen storage disease type 1. 61
12373565 2002

Variations for Glycogen Storage Disease Ic

ClinVar genetic disease variations for Glycogen Storage Disease Ic:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SLC37A4 SLC37A4, IVS8, 4-BP DEL Deletion Pathogenic 6927 GRCh37:
GRCh38:
2 SLC37A4 SLC37A4, 170-BP DEL, NT148 Deletion Pathogenic 6925 GRCh37:
GRCh38:
3 SLC37A4 SLC37A4, 12-BP INS, NT1103 Insertion Pathogenic 6929 GRCh37:
GRCh38:
4 SLC37A4 NM_001164278.2(SLC37A4):c.1309C>T (p.Arg437Ter) SNV Pathogenic 6934 rs121908979 GRCh37: 11:118895667-118895667
GRCh38: 11:119024957-119024957
5 SLC37A4 NM_001164277.1(SLC37A4):c.287G>A (p.Trp96Ter) SNV Pathogenic 6928 rs121908976 GRCh37: 11:118898998-118898998
GRCh38: 11:119028288-119028288
6 SLC37A4 NM_001164277.1(SLC37A4):c.1042_1043del (p.Leu348fs) Deletion Pathogenic 6926 rs80356491 GRCh37: 11:118895981-118895982
GRCh38: 11:119025271-119025272
7 SLC37A4 NM_001467.6(SLC37A4):c.963_964del (p.Val322fs) Deletion Likely pathogenic 800776 rs1592109970 GRCh37: 11:118896697-118896698
GRCh38: 11:119025987-119025988
8 SLC37A4 NM_001467.6(SLC37A4):c.496C>T (p.Arg166Cys) SNV Uncertain significance 827988 rs11552539 GRCh37: 11:118898468-118898468
GRCh38: 11:119027758-119027758
9 SLC37A4 NM_001164277.1(SLC37A4):c.497G>A (p.Arg166His) SNV Uncertain significance 215178 rs186476316 GRCh37: 11:118898467-118898467
GRCh38: 11:119027757-119027757

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

72
# 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

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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