GSD1C
MCID: GLY017
MIFTS: 21

Glycogen Storage Disease Ic (GSD1C) malady

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

Aliases & Classifications for Glycogen Storage Disease Ic

Aliases & Descriptions for Glycogen Storage Disease Ic:

Name: Glycogen Storage Disease Ic 54 66 13 69
Glycogen Storage Disease Type Ic 24
Glycogen Storage Disease Type Id 69
Glycogen Storage Disease 1c 66
Glycogen Storage Disease 1d 66
Glycogen Storage Disease Id 66
Gsd-Ic 66
Gsd-Id 66
Gsd1c 66
Gsd1d 66

Characteristics:

HPO:

32
glycogen storage disease ic:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 54 232240
MeSH 42 D005953

Summaries for Glycogen Storage Disease Ic

UniProtKB/Swiss-Prot : 66 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 glycogen storage disease type ic, 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.

Description from OMIM: 232240

Related Diseases for Glycogen Storage Disease Ic

Symptoms & Phenotypes for Glycogen Storage Disease Ic

Symptoms by clinical synopsis from OMIM:

232240

Clinical features from OMIM:

232240

Human phenotypes related to Glycogen Storage Disease Ic:

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

Genetic tests related to Glycogen Storage Disease Ic:

id Genetic test Affiliating Genes
1 Glycogen Storage Disease Type Ic 24 SLC37A4

Anatomical Context for Glycogen Storage Disease Ic

MalaCards organs/tissues related to Glycogen Storage Disease Ic:

39
Kidney

Publications for Glycogen Storage Disease Ic

Variations for Glycogen Storage Disease Ic

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

66
id 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
id 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
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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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