MCID: GLY017
MIFTS: 20

Glycogen Storage Disease Ic malady

Genetic diseases, Rare diseases, Metabolic diseases, Liver diseases, Neuronal diseases, Cardiovascular diseases, Blood diseases, Muscle diseases, Nephrological diseases categories

Summaries for Glycogen Storage Disease Ic

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MalaCards based summary: Glycogen Storage Disease Ic, also known as glycogen storage disease type 1c, is related to glycogen storage disease, and has symptoms including autosomal recessive inheritance, renal insufficiency and proteinuria. An important gene associated with Glycogen Storage Disease Ic is SLC37A4 (solute carrier family 37 (glucose-6-phosphate transporter), member 4).

Description from OMIM:46 232240

Aliases & Classifications for Glycogen Storage Disease Ic

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Sources:
46OMIM, 48Orphanet, 61UMLS, 62UMLS via Orphanet
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Glycogen Storage Disease Ic, Aliases & Descriptions:

Name: Glycogen Storage Disease Ic 46 61
Glycogen Storage Disease Type 1c 48
 
Type 1c Glycogenosis 48


Classifications:



External Ids:

UMLS via Orphanet62 C0342749

Related Diseases for Glycogen Storage Disease Ic

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Symptoms for Glycogen Storage Disease Ic

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Symptoms by clinical synopsis from OMIM:

232240

Clinical features from OMIM:

232240

HPO human phenotypes related to Glycogen Storage Disease Ic:

(show all 21)
id Description Frequency HPO Source Accession
1 autosomal recessive inheritance HP:0000007
2 renal insufficiency HP:0000083
3 proteinuria HP:0000093
4 focal segmental glomerulosclerosis HP:0000097
5 hematuria HP:0000790
6 hypertension HP:0000822
7 delayed puberty HP:0000823
8 xanthomatosis HP:0000991
9 hepatocellular carcinoma HP:0001402
10 metabolic acidosis HP:0001942
11 hypoglycemia HP:0001943
12 ketosis HP:0001946
13 gout HP:0001997
14 pulmonary hypertension HP:0002092
15 hepatomegaly HP:0002240
16 hepatoblastoma HP:0002884
17 hyperlipidemia HP:0003077
18 lactic acidosis HP:0003128
19 chronic pancreatitis HP:0006280
20 decreased glomerular filtration rate HP:0012213
21 spider hemangioma HP:0012522

Drugs & Therapeutics for Glycogen Storage Disease Ic

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Drug clinical trials:

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Genetic Tests for Glycogen Storage Disease Ic

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Anatomical Context for Glycogen Storage Disease Ic

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Animal Models for Glycogen Storage Disease Ic or affiliated genes

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Publications for Glycogen Storage Disease Ic

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Variations for Glycogen Storage Disease Ic

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

63
id Symbol AA change Variation ID SNP ID
1SLC37A4p.Gln133ProVAR_025591rs193302896
2SLC37A4p.Gly376SerVAR_025604rs193302897

Clinvar genetic disease variations for Glycogen Storage Disease Ic:

7
id Gene Name Type Significance SNP ID Assembly Location
1SLC37A4SLC37A4, 170-BP DEL, NT148deletionPathogenic
2SLC37A4NM_001164277.1(SLC37A4): c.1042_1043delCT (p.Leu348Valfs)deletionPathogenicrs80356491GRCh37Chr 11, 118895981: 118895982
3SLC37A4SLC37A4, IVS8, 4-BP DELdeletionPathogenic
4SLC37A4NM_001164277.1(SLC37A4): c.287G> A (p.Trp96Ter)single nucleotide variantPathogenicrs121908976GRCh37Chr 11, 118898998: 118898998
5SLC37A4SLC37A4, 12-BP INS, NT1103insertionPathogenic

Expression for genes affiliated with Glycogen Storage Disease Ic

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Expression patterns in normal tissues for genes affiliated with Glycogen Storage Disease Ic

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Pathways for genes affiliated with Glycogen Storage Disease Ic

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Compounds for genes affiliated with Glycogen Storage Disease Ic

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GO Terms for genes affiliated with Glycogen Storage Disease Ic

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Products for genes affiliated with Glycogen Storage Disease Ic

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Sources for Glycogen Storage Disease Ic

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
29IUPHAR
30KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet