MCID: CRB025
MIFTS: 45

Carbohydrate Metabolic Disorder malady

Metabolic diseases category

Summaries for Carbohydrate Metabolic Disorder

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8Disease Ontology, 32MalaCards
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Disease Ontology:8 An inherited metabolic disorder that affect the catabolism and anabolism of carbohydrates.

MalaCards: Carbohydrate Metabolic Disorder, also known as disorder of carbohydrate transport and metabolism, is related to galactosemia and pancreatitis. An important gene associated with Carbohydrate Metabolic Disorder is INS (insulin), and among its related pathways are PPAR signaling pathway and Nuclear Receptor transcription pathway. The compounds actos and gi262570 have been mentioned in the context of this disorder. Affiliated tissues include kidney and thyroid, and related mouse phenotypes are integument and renal/urinary system.

Aliases & Classifications for Carbohydrate Metabolic Disorder

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8Disease Ontology, 60UMLS, 34MeSH
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Metabolic diseases


Aliases & Descriptions:

carbohydrate metabolic disorder 8
disorder of carbohydrate transport and metabolism 8
inborn errors of carbohydrate metabolism 8
inborn carbohydrate metabolism disorder 8


External Ids:

Disease Ontology8 DOID:2978
MeSH34 D002239

Related Diseases for Carbohydrate Metabolic Disorder

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17GeneCards, 18GeneDecks
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Diseases related to Carbohydrate Metabolic Disorder via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 98)
idRelated DiseaseScoreTop Affiliating Genes
1galactosemia30.4INS, HP
2pancreatitis30.0INS
3hypertension30.0INS, PPARG, PPARA
4diabetes mellitus30.0IRS2, IRS1, PPARA, PPARG, HP, INS
5pentosuria10.3
6pyruvate dehydrogenase e2 deficiency10.2
7pepck deficiency, mitochondrial10.2
8pulmonary tuberculosis10.0
9pyruvate carboxylase deficiency disease10.0
10hereditary fructose intolerance syndrome10.0
11fructose-1,6-bisphosphatase deficiency10.0
12hyperinsulinemic hypoglycemia10.0
13congenital disorder of glycosylation10.0
14glucosephosphate dehydrogenase deficiency10.0
15thyroiditis10.0
16tuberculosis10.0
17epimerase deficiency galactosemia10.0
18fanconi bickel syndrome10.0
19pyruvate dehydrogenase phosphatase deficiency10.0
20fructosuria, essential10.0
21pyruvate dehydrogenase e1-beta deficiency10.0
22pyruvate dehydrogenase e1-alpha deficiency10.0
23dihydrolipoamide dehydrogenase deficiency10.0
24fructose-1,6-bidphosphatase deficiency10.0
25lacticacidemia due to pdx1 deficiency10.0
26galactokinase deficiency with cataracts10.0
27phosphoenolpyruvate carboxykinase-1, cytosolic, deficiency10.0
28pyruvate carboxylase deficiency, benign type10.0
29pyruvate carboxylase deficiency, infantile type10.0
30pyruvate carboxylase deficiency, severe neonatal type10.0
31generalized galactose epimerase deficiency10.0
32erythrocyte galactose epimerase deficiency10.0
33morbid obesity10.0INS
34maturity-onset diabetes of the young10.0INS
35blindness10.0INS
36vascular disease10.0HP
37arteriosclerosis10.0PPARG
38familial hyperlipidemia10.0INS
39hepatitis10.0HP
40endometriosis10.0HP
41diabetic retinopathy10.0INS
42hepatitis b10.0PPARA
43adenocarcinoma10.0PPARA
44pituitary tumors10.0PPARG
45osteoarthritis10.0PPARA
46psoriasis10.0PPARA
47batten disease10.0HP
48hyperandrogenism10.0INS, PPARG
49pneumonia10.0PPARA
50essential hypertension10.0HP, INS

Graphical network of the top 20 diseases related to Carbohydrate Metabolic Disorder:



Diseases related to carbohydrate metabolic disorder

Clinical Features for Carbohydrate Metabolic Disorder

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Drugs & Therapeutics for Carbohydrate Metabolic Disorder

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Carbohydrate Metabolic Disorder

Drug clinical trials:

Search ClinicalTrials for Carbohydrate Metabolic Disorder

Search NIH Clinical Center for Carbohydrate Metabolic Disorder

Search CenterWatch for Carbohydrate Metabolic Disorder

Genetic Tests for Carbohydrate Metabolic Disorder

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Anatomical Context for Carbohydrate Metabolic Disorder

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32MalaCards
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MalaCards organs/tissues related to Carbohydrate Metabolic Disorder:

32
Kidney, Thyroid

Animal Models for Carbohydrate Metabolic Disorder or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Carbohydrate Metabolic Disorder:

36 (show all 12)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00107719.4INS, PPARA
2MP:00053678.6IRS2, PPARG, HP, INS
3MP:00053798.0INS, PPARG, IRS1, IRS2
4MP:00053757.9INS, PPARG, PPARA, IRS1, IRS2
5MP:00053697.8IRS2, IRS1, PPARA, PPARG, INS
6MP:00053707.8IRS1, PPARA, PPARG, HP, INS
7MP:00053787.5IRS2, IRS1, PPARA, PPARG, INS
8MP:00053857.4IRS2, IRS1, PPARA, PPARG, HP, INS
9MP:00053877.3IRS2, IRS1, PPARA, PPARG, HP, INS
10MP:00053847.3IRS2, IRS1, PPARA, PPARG, HP, INS
11MP:00053767.2IRS2, IRS1, PPARA, PPARG, HP, INS
12MP:00107687.2IRS2, IRS1, PPARA, PPARG, HP, INS

Publications for Carbohydrate Metabolic Disorder

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50PubMed
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Articles related to Carbohydrate Metabolic Disorder:

(show all 16)
idTitleAuthorsYear
1
Protective effects of vescalagin from pink wax apple [Syzygium samarangense (Blume) Merrill and Perry] fruit against methylglyoxal-induced inflammation and carbohydrate metabolic disorder in rats. (23819528)
2013
2
Ameliorating effect of mother tincture of Syzygium jambolanum on carbohydrate and lipid metabolic disorders in streptozotocin-induced diabetic rat: Homeopathic remedy. (23633838)
2013
3
Hashimoto's thyroiditis and carbohydrate metabolism disorders in patients hospitalised in the Department of Endocrinology and Diabetology of Ludwik Rydygier Collegium Medicum in Bydgoszcz between 2001 and 2010. (22378092)
2012
4
Screening using serum percentage of carbohydrate-deficient transferrin for congenital disorders of glycosylation in children with suspected metabolic disease. (18024528)
2008
5
Clinicogenetic aspects of carbohydrate metabolism disorders and efficacy of their correction with moxonidine and metformine in patients with arterial hypertension]. (15759454)
2005
6
Disorder of carbohydrate metabolism]. (15206146)
2004
7
Carbohydrate and lipid metabolism disorders in obese children and adolescents]. (15858253)
2004
8
New disorders in carbohydrate metabolism: congenital disorders of glycosylation and their impact on the endocrine system. (12618564)
2003
9
Characteristics of lipid profile in blood plasma of patients with metabolic syndrome and manifest disorder of carbohydrate metabolism]. (14669600)
2003
10
Diagnostic criteria of carbohydrate metabolism disorders in pulmonary tuberculosis complicated by diabetes mellitus in patients with various haptoglobin phenotypes]. (11338533)
2001
11
The characteristics of disorders in carbohydrate metabolism and insulin and C-peptide secretion in patients with chronic glomerulonephritis in developing chronic kidney failure]. (8771677)
1996
12
Carbohydrate metabolic disorder in women with a neuroendocrine syndrome]. (8017575)
1994
13
Disorders of carbohydrate and lipid metabolism in veterans with paraplegia or quadriplegia: a model of premature aging. (8201966)
1994
14
Determination of fructosamine in the early diagnosis of disorders of carbohydrate metabolism]. (7740029)
1994
15
Glycosylated proteins and the rheological properties of the erythrocytes in carbohydrate metabolic disorders]. (1803588)
1991
16
Autotransplantation of pancreatic tail tissue to prevent carbohydrate metabolic disorder following total pancreatectomy. A case report with preliminary experience. (6816515)
1982

Genetic Variations for Carbohydrate Metabolic Disorder

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Expression for genes affiliated with Carbohydrate Metabolic Disorder

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Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Carbohydrate Metabolic Disorder

Search GEO for disease gene expression data for Carbohydrate Metabolic Disorder.

Pathways for genes affiliated with Carbohydrate Metabolic Disorder

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Sources:
29KEGG, 53Reactome, 37NCBI BioSystems Database, 12EMD Millipore, 52R&D Systems, 51QIAGEN, 49PharmGKB, 4Cell Signaling Technology
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Pathways related to Carbohydrate Metabolic Disorder according to GeneCards/GeneDecks:

(show all 31)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.3PPARG, PPARA
2
Hide members
9.3PPARA, PPARG
39.3PPARA, PPARG
49.3PPARA, PPARG
59.2INS, IRS1
69.2IRS1, INS
79.2IRS1, INS
89.2INS, IRS1
9
Development EPO-induced Jak-STAT pathway
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9.2IRS1, IRS2
10
Development Leptin signaling via PI3K-dependent pathway
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9.2IRS1, IRS2
11
Hide members
9.2IRS2, IRS1
129.2IRS2, IRS1
139.2IRS1, IRS2
149.2IRS1, IRS2
159.2IRS1, IRS2
16
Hide members
9.2IRS1, IRS2
179.2IRS1, IRS2
18
Hide members
8.8IRS2, IRS1, INS
19
Development Prolactin receptor signaling
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8.8INS, IRS1, IRS2
20
Hide members
8.8INS, IRS1, IRS2
218.8INS, IRS1, IRS2
22
Translation Insulin regulation of translation
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8.8IRS2, IRS1, INS
23
Hide members
8.8INS, IRS1, IRS2
24
Hide members
8.8INS, IRS1, IRS2
25
Hide members
8.8IRS2, IRS1, INS
26
Hide members
8.8IRS2, IRS1, INS
278.6IRS2, IRS1, PPARA
28
Development Ligand-independent activation of ESR1 and ESR2
Hide members
8.5IRS1, PPARA, PPARG
298.3INS, PPARG, IRS1, IRS2
307.6INS, PPARG, PPARA, IRS1, IRS2
31
Hide members
7.6IRS2, IRS1, PPARA, PPARG, INS

Compounds for genes affiliated with Carbohydrate Metabolic Disorder

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44Novoseek, 28IUPHAR, 59Tocris Bioscience, 11DrugBank, 49PharmGKB, 24HMDB
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Compounds related to Carbohydrate Metabolic Disorder according to GeneCards/GeneDecks:

(show top 50)    (show all 109)
idCompoundScoreTop Affiliating Genes
1actos449.9INS, PPARG
2gi262570449.7PPARA, PPARG
3gw 1929449.7PPARA, PPARG
4ragaglitazar44 2810.7PPARG, PPARA
5ly-510929289.7PPARA, PPARG
6mono(2-ethylhexyl)phthalate449.7PPARG, PPARA
7ly-465608289.7PPARG, PPARA
8hbig449.7INS, PPARG
9mk-0767289.7PPARA, PPARG
10reglitazar289.7PPARG, PPARA
11tzd18289.7PPARA, PPARG
12farglitazar289.7PPARA, PPARG
13ad-5061289.7PPARA, PPARG
14gw409544289.7PPARA, PPARG
15tetradecylthioacetic acid449.6PPARG, PPARA
16gw 764744 5910.6PPARG, PPARA
17bisphenol a diglycidyl ether449.6PPARA, PPARG
18ALEGLITAZAR 119.6PPARG, PPARA
19gw9578289.6PPARA, PPARG
20mitiglinide44 1110.5INS, PPARG
213-{5-methoxy-1-[(4-methoxyphenyl)sulfonyl]-1H-indol-3-yl}propanoic acid119.4PPARA, PPARG
22gw50151644 2810.4PPARG, PPARA
23acarbose44 1110.4PPARG, PPARA, INS
24telmisartan44 28 1111.3INS, PPARG, PPARA
25gemfibrozil44 28 1111.3INS, PPARG, PPARA
26bezafibrate44 28 1111.3PPARG, INS, PPARA
27tesaglitazar449.2PPARG, PPARA
28fenofibrate44 49 1111.2INS, PPARG, PPARA
29glucose449.1IRS2, PPARG, IRS1
30dexamethasone44 49 28 1112.1IRS1, INS, PPARA
31ritonavir44 49 1111.0IRS1, PPARG, INS
32prostaglandin j2449.0PPARA, PPARG
33carnitine448.9PPARG, INS, PPARA
342-deoxyglucose44 119.9IRS1, PPARG, INS
35niacin44 119.8HP, PPARG, PPARA, INS
36thiazolidinedione448.5PPARA, INS, PPARG, IRS1
37pioglitazone44 49 28 1111.5IRS1, PPARA, INS, PPARG
38palmitate448.5PPARG, IRS1, PPARA, INS
39ibmx44 28 5910.5PPARA, IRS1, PPARG, INS
40rapamycin448.5IRS2, IRS1, INS, PPARG
41fatty acid448.5IRS2, IRS1, PPARG, PPARA
42ly294002448.5IRS1, PPARG, IRS2, INS
43sterol448.5IRS1, PPARG, IRS2, PPARA
44aspirin44 49 28 2411.4HP, PPARG, PPARA, IRS1
45metformin44 49 1110.1PPARA, PPARG, INS, IRS2, IRS1
46rosiglitazone44 49 28 11 2412.1IRS1, PPARA, PPARG, INS, IRS2
47troglitazone44 28 59 1111.1PPARG, INS, PPARA, IRS1, IRS2
48testosterone44 59 11 2411.0HP, INS, PPARG, IRS1, PPARA
49alanine447.6INS, IRS2, IRS1, PPARA, HP, PPARG
50lipid447.5IRS2, IRS1, PPARA, PPARG, INS, HP

GO Terms for genes affiliated with Carbohydrate Metabolic Disorder

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16Gene Ontology
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Biological processes related to Carbohydrate Metabolic Disorder according to GeneCards/GeneDecks:

(show all 23)
idNameGO IDScoreTop Affiliating Genes
1negative regulation of acute inflammatory responseGO:0026749.8PPARG, INS
2lipid homeostasisGO:0550889.7PPARG, IRS2
3negative regulation of receptor biosynthetic processGO:0108719.7PPARA, PPARG
4positive regulation of fatty acid oxidationGO:0463219.6PPARA, PPARG
5negative regulation of sequestering of triglycerideGO:0108919.6PPARA, PPARG
6negative regulation of cholesterol storageGO:0108879.6PPARG, PPARA
7acute-phase responseGO:0069539.5INS, HP
8negative regulation of macrophage derived foam cell differentiationGO:0107459.5PPARG, PPARA
9positive regulation of insulin receptor signaling pathwayGO:0466289.5IRS1, INS
10positive regulation of glucose metabolic processGO:0109079.5IRS1, IRS2
11wound healingGO:0420609.4INS, PPARA
12mammary gland developmentGO:0308799.3IRS2, IRS1
13JAK-STAT cascade involved in growth hormone signaling pathwayGO:0603979.3IRS1, IRS2
14positive regulation of mesenchymal cell proliferationGO:0020539.3IRS1, IRS2
15positive regulation of glycogen biosynthetic processGO:0457259.1INS, IRS1, IRS2
16positive regulation of glucose importGO:0463269.1IRS2, IRS1, INS
17glucose homeostasisGO:0425939.0INS, PPARG, IRS1
18positive regulation of cell migrationGO:0303359.0INS, IRS1, IRS2
19cellular response to insulin stimulusGO:0328699.0PPARG, IRS1, IRS2
20insulin receptor signaling pathwayGO:0082869.0IRS2, IRS1, INS
21response to insulin stimulusGO:0328688.9IRS1, PPARA
22positive regulation of fatty acid beta-oxidationGO:0320008.9PPARA, IRS1, IRS2
23positive regulation of cell proliferationGO:0082848.5INS, IRS1, IRS2

Molecular functions related to Carbohydrate Metabolic Disorder according to GeneCards/GeneDecks:

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1insulin-like growth factor receptor bindingGO:0051599.4INS, IRS1
2ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activityGO:0048799.3PPARG, PPARA
3drug bindingGO:0081449.3PPARG, PPARA
4phosphatidylinositol 3-kinase bindingGO:0435489.3IRS2, IRS1
5steroid hormone receptor activityGO:0037079.2PPARG, PPARA
6insulin receptor bindingGO:0051588.9INS, IRS1, IRS2
7protein bindingGO:0055156.8HP, PPARG, PPARA, IRS1, IRS2, INS

Products for genes affiliated with Carbohydrate Metabolic Disorder

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Carbohydrate Metabolic Disorder

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet