GSD1C
MCID: GLY017
MIFTS: 29

Glycogen Storage Disease Ic (GSD1C)

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 Ic

MalaCards integrated aliases for Glycogen Storage Disease Ic:

Name: Glycogen Storage Disease Ic 58 76 13 74
Gsd1c 58 76
Glycogen Storage Disease, Type Ic 41
Glycogen Storage Disease Type 1c 77
Glycogen Storage Disease Type Id 74
Glycogen Storage Disease 1c 76
Glycogen Storage Disease 1d 76
Glycogen Storage Disease Id 76
Gsd Ic 58
Gsd-Ic 76
Gsd-Id 76
Gsd1d 76

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive


HPO:

33
glycogen storage disease ic:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Glycogen Storage Disease Ic

UniProtKB/Swiss-Prot : 76 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 neutropenia. 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 hypertension and hepatomegaly

Wikipedia : 77 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

Human phenotypes related to Glycogen Storage Disease Ic:

33 (show all 21)
# Description HPO Frequency HPO Source Accession
1 hypertension 33 HP:0000822
2 hepatomegaly 33 HP:0002240
3 renal insufficiency 33 HP:0000083
4 proteinuria 33 HP:0000093
5 delayed puberty 33 HP:0000823
6 hypoglycemia 33 HP:0001943
7 pulmonary arterial hypertension 33 HP:0002092
8 lactic acidosis 33 HP:0003128
9 hematuria 33 HP:0000790
10 hyperlipidemia 33 HP:0003077
11 gout 33 HP:0001997
12 metabolic acidosis 33 HP:0001942
13 hepatoblastoma 33 HP:0002884
14 xanthomatosis 33 HP:0000991
15 xanthelasma 33 HP:0001114
16 spider hemangioma 33 HP:0012522
17 hepatocellular carcinoma 33 HP:0001402
18 focal segmental glomerulosclerosis 33 HP:0000097
19 decreased glomerular filtration rate 33 HP:0012213
20 chronic pancreatitis 33 HP:0006280
21 hyperketonemia 33 HP:0410175

Symptoms via clinical synopsis from OMIM:

58
Endo:
hypertension
hypoglycemia

G U:
renal insufficiency
proteinuria
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

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:

42
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:

76
# 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/Likely pathogenic rs80356491 GRCh37 Chromosome 11, 118895981: 118895982
3 SLC37A4 NM_001467.5(SLC37A4): c.1042_1043delCT (p.Leu348Valfs) deletion Pathogenic/Likely pathogenic rs80356491 GRCh38 Chromosome 11, 119025271: 119025272
4 SLC37A4 SLC37A4, IVS8, 4-BP DEL deletion Pathogenic
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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
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41 LOVD
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45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
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52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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