MCID: GLY017
MIFTS: 22

Glycogen Storage Disease Ic malady

Categories: Genetic diseases, Rare diseases, Metabolic diseases, Liver diseases, Cardiovascular 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 49 11 67 65
Glycogen Storage Disease Type Id 65
Glycogen Storage Disease 1c 67
Glycogen Storage Disease 1d 67
Glycogen Storage Disease Id 67
 
Gsd-Id 67
Gsd-Ic 67
Gsd1c 67
Gsd1d 67

Characteristics:

HPO:

61
glycogen storage disease ic:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM49 232240
MeSH36 D005953
UMLS65 C0342749, C0342750

Summaries for Glycogen Storage Disease Ic

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UniProtKB/Swiss-Prot:67 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 type id, and has symptoms including spider hemangioma, decreased glomerular filtration rate and chronic pancreatitis. An important gene associated with Glycogen Storage Disease Ic is SLC37A4 (Solute Carrier Family 37 Member 4). Affiliated tissues include kidney and liver.

Description from OMIM:49 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 spider hemangioma HP:0012522
2 decreased glomerular filtration rate HP:0012213
3 chronic pancreatitis HP:0006280
4 lactic acidosis HP:0003128
5 hyperlipidemia HP:0003077
6 hepatoblastoma HP:0002884
7 hepatomegaly HP:0002240
8 pulmonary hypertension HP:0002092
9 gout HP:0001997
10 ketosis HP:0001946
11 hypoglycemia HP:0001943
12 metabolic acidosis HP:0001942
13 hepatocellular carcinoma HP:0001402
14 xanthomatosis HP:0000991
15 delayed puberty HP:0000823
16 hypertension HP:0000822
17 hematuria HP:0000790
18 focal segmental glomerulosclerosis HP:0000097
19 proteinuria HP:0000093
20 renal insufficiency HP:0000083

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:

33
Kidney, Liver

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:

67
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
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet