MCID: GLY017
MIFTS: 28

Glycogen Storage Disease Ic

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

Aliases & Classifications for Glycogen Storage Disease Ic

MalaCards integrated aliases for Glycogen Storage Disease Ic:

Name: Glycogen Storage Disease Ic 57 75 13 73
Gsd1c 57 75
Glycogen Storage Disease, Type Ic 40
Glycogen Storage Disease Type 1c 76
Glycogen Storage Disease Type Id 73
Glycogen Storage Disease 1c 75
Glycogen Storage Disease 1d 75
Glycogen Storage Disease Id 75
Gsd Ic 57
Gsd-Ic 75
Gsd-Id 75
Gsd1d 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
glycogen storage disease ic:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Glycogen Storage Disease Ic

UniProtKB/Swiss-Prot : 75 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. An important gene associated with Glycogen Storage Disease Ic is SLC37A4 (Solute Carrier Family 37 Member 4). Affiliated tissues include kidney and liver, and related phenotypes are renal insufficiency and proteinuria

Wikipedia : 76 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:

57
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:

32 (show all 21)
# Description HPO Frequency HPO Source Accession
1 renal insufficiency 32 HP:0000083
2 proteinuria 32 HP:0000093
3 focal segmental glomerulosclerosis 32 HP:0000097
4 hematuria 32 HP:0000790
5 hypertension 32 HP:0000822
6 delayed puberty 32 HP:0000823
7 xanthomatosis 32 HP:0000991
8 xanthelasma 32 HP:0001114
9 hepatocellular carcinoma 32 HP:0001402
10 metabolic acidosis 32 HP:0001942
11 hypoglycemia 32 HP:0001943
12 ketosis 32 HP:0001946
13 gout 32 HP:0001997
14 pulmonary arterial hypertension 32 HP:0002092
15 hepatomegaly 32 HP:0002240
16 hepatoblastoma 32 HP:0002884
17 hyperlipidemia 32 HP:0003077
18 lactic acidosis 32 HP:0003128
19 chronic pancreatitis 32 HP:0006280
20 decreased glomerular filtration rate 32 HP:0012213
21 spider hemangioma 32 HP:0012522

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:

41
Kidney, Liver

Publications for Glycogen Storage Disease Ic

Articles related to Glycogen Storage Disease Ic:

# Title Authors Year
1
NPT4, a new microsomal phosphate transporter: mutation analysis in glycogen storage disease type Ic. ( 15505377 )
2004

Variations for Glycogen Storage Disease Ic

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

75
# 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, IVS8, 4-BP DEL deletion Pathogenic
2 SLC37A4 SLC37A4, 170-BP DEL, NT148 deletion Pathogenic
3 SLC37A4 NM_001467.5(SLC37A4): c.1042_1043delCT (p.Leu348Valfs) deletion Pathogenic/Likely pathogenic rs80356491 GRCh37 Chromosome 11, 118895981: 118895982
4 SLC37A4 NM_001467.5(SLC37A4): c.1042_1043delCT (p.Leu348Valfs) deletion Pathogenic/Likely pathogenic rs80356491 GRCh38 Chromosome 11, 119025271: 119025272
5 SLC37A4 NM_001164277.1(SLC37A4): c.287G> A (p.Trp96Ter) single nucleotide variant Likely pathogenic rs121908976 GRCh37 Chromosome 11, 118898998: 118898998
6 SLC37A4 NM_001164277.1(SLC37A4): c.287G> A (p.Trp96Ter) single nucleotide variant Likely pathogenic rs121908976 GRCh38 Chromosome 11, 119028288: 119028288
7 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
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
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