MCID: GLY017
MIFTS: 20

Glycogen Storage Disease Ic 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

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Aliases & Descriptions for Glycogen Storage Disease Ic:

Name: Glycogen Storage Disease Ic 50 68 12 66
Glycogen Storage Disease 1d 68
Glycogen Storage Disease Id 68
Glycogen Storage Disease 1c 68
 
Gsd-Id 68
Gsd-Ic 68
Gsd1c 68
Gsd1d 68

Characteristics:

HPO:

62
glycogen storage disease ic:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM50 232240
MeSH37 D005953

Summaries for Glycogen Storage Disease Ic

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UniProtKB/Swiss-Prot:68 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, is also known as glycogen storage disease 1d, and has symptoms including renal insufficiency, proteinuria and focal segmental glomerulosclerosis. An important gene associated with Glycogen Storage Disease Ic is SLC37A4 (Solute Carrier Family 37 Member 4). Affiliated tissues include kidney.

Description from OMIM:50 232240

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

Drugs & Therapeutics for Glycogen Storage Disease Ic

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Glycogen Storage Disease Ic

Genetic Tests for Glycogen Storage Disease Ic

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Anatomical Context for Glycogen Storage Disease Ic

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MalaCards organs/tissues related to Glycogen Storage Disease Ic:

34
Kidney

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:

68
id Symbol AA change Variation ID SNP ID
1SLC37A4p.Gln133ProVAR_025591rs193302896
2SLC37A4p.Gly376SerVAR_025604rs193302897

Clinvar genetic disease variations for Glycogen Storage Disease Ic:

5
id Gene Variation Type Significance SNP ID Assembly Location
1SLC37A4SLC37A4, 170-BP DEL, NT148deletionPathogenic
2SLC37A4NM_001467.5(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 variantLikely pathogenic, Pathogenicrs121908976GRCh37Chr 11, 118898998: 118898998
5SLC37A4SLC37A4, 12-BP INS, NT1103insertionPathogenic

Expression for genes affiliated with Glycogen Storage Disease Ic

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Search GEO for disease gene expression data for Glycogen Storage Disease Ic.

Pathways 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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Sources for Glycogen Storage Disease Ic

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet