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

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Aliases & Descriptions for Glycogen Storage Disease Ic:

Name: Glycogen Storage Disease Ic 52 70 12 68
Glycogen Storage Disease Type Id 68
Glycogen Storage Disease Type Ic 24
Glycogen Storage Disease 1d 70
Glycogen Storage Disease 1c 70
 
Glycogen Storage Disease Id 70
Gsd-Ic 70
Gsd-Id 70
Gsd1d 70
Gsd1c 70

Characteristics:

HPO:

64
glycogen storage disease ic:
Inheritance: autosomal recessive inheritance

Classifications:



External Ids:

OMIM52 232240
MeSH39 D005953

Summaries for Glycogen Storage Disease Ic

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UniProtKB/Swiss-Prot:70 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 id, is related to glycogen storage disease, 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:52 232240

Related Diseases for Glycogen Storage Disease Ic

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Symptoms & Phenotypes for Glycogen Storage Disease Ic

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Symptoms by clinical synopsis from OMIM:

232240

Clinical features from OMIM:

232240

Human phenotypes related to Glycogen Storage Disease Ic:

 64 (show all 20)
id Description HPO Frequency HPO Source Accession
1 renal insufficiency64 HP:0000083
2 proteinuria64 HP:0000093
3 focal segmental glomerulosclerosis64 HP:0000097
4 hematuria64 HP:0000790
5 hypertension64 HP:0000822
6 delayed puberty64 HP:0000823
7 xanthomatosis64 HP:0000991
8 hepatocellular carcinoma64 HP:0001402
9 metabolic acidosis64 HP:0001942
10 hypoglycemia64 HP:0001943
11 ketosis64 HP:0001946
12 gout64 HP:0001997
13 pulmonary arterial hypertension64 HP:0002092
14 hepatomegaly64 HP:0002240
15 hepatoblastoma64 HP:0002884
16 hyperlipidemia64 HP:0003077
17 lactic acidosis64 HP:0003128
18 chronic pancreatitis64 HP:0006280
19 decreased glomerular filtration rate64 HP:0012213
20 spider hemangioma64 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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Genetic tests related to Glycogen Storage Disease Ic:

id Genetic test Affiliating Genes
1 Glycogen Storage Disease Type Ic24 SLC37A4

Anatomical Context for Glycogen Storage Disease Ic

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MalaCards organs/tissues related to Glycogen Storage Disease Ic:

36
Kidney

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:

70
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)SNVPathogenic/ Likely 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
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet