MCID: GLY017
MIFTS: 28

Glycogen Storage Disease Ic

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

Aliases & Classifications for Glycogen Storage Disease Ic

MalaCards integrated aliases for Glycogen Storage Disease Ic:

Name: Glycogen Storage Disease Ic 53 71 13 69
Gsd1c 53 71
Glycogen Storage Disease Type 1c 72
Glycogen Storage Disease Type Id 69
Glycogen Storage Disease 1c 71
Glycogen Storage Disease 1d 71
Glycogen Storage Disease Id 71
Gsd Ic 53
Gsd-Ic 71
Gsd-Id 71
Gsd1d 71

Characteristics:

OMIM:

53
Inheritance:
autosomal recessive


HPO:

31
glycogen storage disease ic:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Glycogen Storage Disease Ic

UniProtKB/Swiss-Prot : 71 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.

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

Wikipedia : 72 Glycogen storage disease type I (GSD I) or von Gierke disease, is the most common of the glycogen... more...

Description from OMIM: 232240

Related Diseases for Glycogen Storage Disease Ic

Symptoms & Phenotypes for Glycogen Storage Disease Ic

Symptoms via clinical synopsis from OMIM:

53
Endo:
hypertension
hypoglycemia

GU:
renal insufficiency
proteinuria
hematuria
focal segmental glomerulosclerosis
reduced creatinine clearance

Pulmonary:
pulmonary hypertension

Skin:
xanthoma
spider angioma
gouty tophi

Heme:
no leukocyte dysfunction

GI:
hepatomegaly
hepatoblastoma
hepatocellular carcinoma
liver adenomas
chronic pancreatitis

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

Human phenotypes related to Glycogen Storage Disease Ic:

31 (show all 20)
# Description HPO Frequency HPO Source Accession
1 hypertension 31 HP:0000822
2 hepatomegaly 31 HP:0002240
3 renal insufficiency 31 HP:0000083
4 proteinuria 31 HP:0000093
5 delayed puberty 31 HP:0000823
6 hypoglycemia 31 HP:0001943
7 pulmonary arterial hypertension 31 HP:0002092
8 lactic acidosis 31 HP:0003128
9 hematuria 31 HP:0000790
10 hyperlipidemia 31 HP:0003077
11 gout 31 HP:0001997
12 metabolic acidosis 31 HP:0001942
13 hepatoblastoma 31 HP:0002884
14 xanthelasma 31 HP:0001114
15 spider hemangioma 31 HP:0012522
16 hepatocellular carcinoma 31 HP:0001402
17 ketosis 31 HP:0001946
18 focal segmental glomerulosclerosis 31 HP:0000097
19 decreased glomerular filtration rate 31 HP:0012213
20 chronic pancreatitis 31 HP:0006280

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:

38
Kidney, Liver

Publications for Glycogen Storage Disease Ic

Articles related to Glycogen Storage Disease Ic:

# Title Authors Year
1
Localisation of the gene for glycogen storage disease type 1c by homozygosity mapping to 11q. ( 9598717 )
1998

Variations for Glycogen Storage Disease Ic

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

71
# Symbol AA change Variation ID SNP ID
1 SLC37A4 p.Gln133Pro VAR_025591 rs193302896
2 SLC37A4 p.Gly376Ser VAR_025604 rs193302897

ClinVar genetic disease variations for Glycogen Storage Disease Ic:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 SLC37A4 SLC37A4, 170-BP DEL, NT148 deletion Pathogenic
2 SLC37A4 NM_001467.5(SLC37A4): c.1042_1043delCT (p.Leu348Valfs) deletion Pathogenic rs80356491 GRCh37 Chromosome 11, 118895981: 118895982
3 SLC37A4 SLC37A4, IVS8, 4-BP DEL deletion Pathogenic
4 SLC37A4 NM_001164277.1(SLC37A4): c.287G> A (p.Trp96Ter) single nucleotide variant Pathogenic/Likely pathogenic rs121908976 GRCh37 Chromosome 11, 118898998: 118898998
5 SLC37A4 SLC37A4, 12-BP INS, NT1103 insertion Pathogenic

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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....