MCID: CRB025
MIFTS: 42

Carbohydrate Metabolic Disorder

Categories: Metabolic diseases

Aliases & Classifications for Carbohydrate Metabolic Disorder

MalaCards integrated aliases for Carbohydrate Metabolic Disorder:

Name: Carbohydrate Metabolic Disorder 12 15
Carbohydrate Metabolism, Inborn Errors 44 73
Disorder of Carbohydrate Metabolism 29 73
Disorder of Carbohydrate Transport and Metabolism 12
Inborn Errors of Carbohydrate Metabolism 12
Inborn Carbohydrate Metabolism Disorder 12
Carbohydrate Metabolism Disorders 43
Carbohydrate Metabolism Disorder 55

Classifications:



External Ids:

Disease Ontology 12 DOID:2978
MeSH 44 D002239
ICD10 33 E74 E74.8

Summaries for Carbohydrate Metabolic Disorder

MedlinePlus : 43 Metabolism is the process your body uses to make energy from the food you eat. Food is made up of proteins, carbohydrates, and fats. Chemicals in your digestive system (enzymes) break the food parts down into sugars and acids, your body's fuel. Your body can use this fuel right away, or it can store the energy in your body tissues. If you have a metabolic disorder, something goes wrong with this process. Carbohydrate metabolism disorders are a group of metabolic disorders. Normally your enzymes break carbohydrates down into glucose (a type of sugar). If you have one of these disorders, you may not have enough enzymes to break down the carbohydrates. Or the enzymes may not work properly. This causes a harmful amount of sugar to build up in your body. That can lead to health problems, some of which can be serious. Some of the disorders are fatal. These disorders are inherited. Newborn babies get screened for many of them, using blood tests. If there is a family history of one of these disorders, parents can get genetic testing to see whether they carry the gene. Other genetic tests can tell whether the fetus has the disorder or carries the gene for the disorder. Treatments may include special diets, supplements, and medicines. Some babies may also need additional treatments, if there are complications. For some disorders, there is no cure, but treatments may help with symptoms.

MalaCards based summary : Carbohydrate Metabolic Disorder, also known as carbohydrate metabolism, inborn errors, is related to galactosemia and fructose-1,6-bisphosphatase deficiency. An important gene associated with Carbohydrate Metabolic Disorder is INS (Insulin), and among its related pathways/superpathways are Metabolism and Glycosaminoglycan metabolism. Affiliated tissues include testes, heart and brain, and related phenotypes are Decreased viability and Decreased viability

Disease Ontology : 12 An inherited metabolic disorder that affect the catabolism and anabolism of carbohydrates.

Related Diseases for Carbohydrate Metabolic Disorder

Diseases related to Carbohydrate Metabolic Disorder via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 107)
# Related Disease Score Top Affiliating Genes
1 galactosemia 32.1 ALDOB G6PC GALK1 GALT
2 fructose-1,6-bisphosphatase deficiency 31.9 ALDOB CLIC1 G6PC
3 congenital disorder of glycosylation, type in 31.5 ALG2 ALG6 PMM2
4 glycogen storage disease 30.5 AGL BTD G6PC GAA GBE1 PHKA2
5 galactose epimerase deficiency 30.4 GALK1 GALT
6 glycogen storage disease v 30.4 GAA PYGM
7 glycogen storage disease vi 30.4 G6PC PYGM
8 galactokinase deficiency 30.3 GALK1 GALT
9 primary hyperoxaluria 30.3 AGXT GRHPR HOGA1
10 fanconi-bickel syndrome 30.2 ABCC8 G6PC INS
11 glycogen storage disease vii 30.2 GBE1 PYGM
12 glycogen storage disease iv 30.2 AGL G6PC GAA GBE1
13 glycogen storage disease iii 30.2 AGL ALDOB G6PC GAA
14 fructose intolerance, hereditary 30.0 ALDOB ALG2 PMM2
15 glycogen storage disease ia 30.0 ALDOB G6PC GALK1 INS PHKA2
16 pyruvate dehydrogenase e1-alpha deficiency 11.4
17 pentosuria 11.3
18 congenital disorder of deglycosylation 11.0
19 juvenile spinal muscular atrophy 11.0
20 hyperinsulinemic hypoglycemia 11.0
21 glucosephosphate dehydrogenase deficiency 11.0
22 proximal spinal muscular atrophy 11.0
23 mucopolysaccharidosis, type ii 11.0
24 renal glucosuria 10.3
25 epimerase deficiency galactosemia 10.3 GALK1 GALT
26 hyperinsulinemic hypoglycemia, familial, 7 10.2 ALDOB INS
27 d-glyceric aciduria 10.2
28 hyperoxaluria, primary, type i 10.2
29 hyperoxaluria, primary, type ii 10.2
30 glycogen storage disease ixb 10.2
31 glycogen storage disease, type ixd 10.2
32 glycerol kinase deficiency 10.2
33 diabetes mellitus, transient neonatal, 1 10.2
34 transaldolase deficiency 10.2
35 hyperoxaluria, primary, type iii 10.2
36 carbonic anhydrase va deficiency, hyperammonemia due to 10.2
37 hirata disease 10.2 ABCC8 INS
38 insulinomatosis and diabetes mellitus 10.2 ABCC8 INS
39 pyruvate carboxylase deficiency 10.2
40 atrial standstill 1 10.2 AGL GAA GBE1
41 lactose intolerance 10.1 ALDOB LCT
42 acute insulin response 10.1 ABCC8 INS PYGM
43 glucose metabolism disease 10.1 ABCC8 G6PC INS
44 congenital disorder of glycosylation, type iid 10.1 ALG2 PMM2
45 hyperglycemia 10.1 ABCC8 G6PC INS
46 congenital disorder of glycosylation, type iii 10.0 ALG2 PMM2
47 congenital disorder of glycosylation, type iia 10.0 ALG2 PMM2
48 sucrase-isomaltase deficiency, congenital 10.0
49 glycogen storage disease ii 10.0
50 glycogen storage disease 0, liver 10.0

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



Diseases related to Carbohydrate Metabolic Disorder

Symptoms & Phenotypes for Carbohydrate Metabolic Disorder

GenomeRNAi Phenotypes related to Carbohydrate Metabolic Disorder according to GeneCards Suite gene sharing:

26 (show all 11)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00221-A-1 10.16 PHKA2
2 Decreased viability GR00221-A-2 10.16 GALK1 PHKA2
3 Decreased viability GR00221-A-3 10.16 PHKA2
4 Decreased viability GR00221-A-4 10.16 PHKA2
5 Decreased viability GR00240-S-1 10.16 GALK1
6 Decreased viability GR00342-S-1 10.16 PHKA2
7 Decreased viability GR00342-S-2 10.16 PHKA2
8 Decreased viability GR00342-S-3 10.16 PHKA2
9 Decreased viability GR00381-A-1 10.16 AGXT GALT GRHPR
10 Decreased viability GR00402-S-2 10.16 ABCC8 AGL AGXT ALDOB ALG2 ALG6
11 no effect GR00402-S-1 9.62 ABCC8 AGL AGXT ALDOB ALG2 ALG6

MGI Mouse Phenotypes related to Carbohydrate Metabolic Disorder:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.19 ABCC8 AGL AGXT ALDOB ALG2 BTD
2 liver/biliary system MP:0005370 9.76 AGL ALDOB G6PC GALT GBE1 HOGA1
3 muscle MP:0005369 9.5 AGL BTD GAA GBE1 INS PMM2
4 renal/urinary system MP:0005367 9.23 AGXT BTD G6PC GRHPR HOGA1 INS

Drugs & Therapeutics for Carbohydrate Metabolic Disorder

Search Clinical Trials , NIH Clinical Center for Carbohydrate Metabolic Disorder

Cochrane evidence based reviews: carbohydrate metabolism, inborn errors

Genetic Tests for Carbohydrate Metabolic Disorder

Genetic tests related to Carbohydrate Metabolic Disorder:

# Genetic test Affiliating Genes
1 Disorder of Carbohydrate Metabolism 29

Anatomical Context for Carbohydrate Metabolic Disorder

MalaCards organs/tissues related to Carbohydrate Metabolic Disorder:

41
Testes, Heart, Brain, Liver, Ovary, Pancreas, Thyroid

Publications for Carbohydrate Metabolic Disorder

Articles related to Carbohydrate Metabolic Disorder:

# Title Authors Year
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
[Disorder of carbohydrate metabolism]. ( 15206146 )
2004
3
[Characteristics of lipid profile in blood plasma of patients with metabolic syndrome and manifest disorder of carbohydrate metabolism]. ( 14669600 )
2003
4
[Carbohydrate metabolic disorder in women with a neuroendocrine syndrome]. ( 8017575 )
1994
5
Autotransplantation of pancreatic tail tissue to prevent carbohydrate metabolic disorder following total pancreatectomy. A case report with preliminary experience. ( 6816515 )
1982

Variations for Carbohydrate Metabolic Disorder

Expression for Carbohydrate Metabolic Disorder

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

Pathways for Carbohydrate Metabolic Disorder

Pathways related to Carbohydrate Metabolic Disorder according to GeneCards Suite gene sharing:

(show all 11)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.23 ABCC8 AGL AGXT ALDOB ALG2 ALG6
2
Show member pathways
12.61 AGL ALDOB G6PC GAA GALK1 GALT
3
Show member pathways
12.38 AGL ALDOB G6PC GAA GBE1 PHKA2
4
Show member pathways
11.71 G6PC INS PYGM
5 11.67 G6PC PHKA2 PYGM
6
Show member pathways
11.64 AGL G6PC GAA GALK1 GALT GBE1
7
Show member pathways
11.62 ABCC8 INS PHKA2
8
Show member pathways
11.5 GALK1 GALT PMM2
9 11.31 ABCC8 ALDOB G6PC INS
10 11.18 AGL GBE1 PHKA2 PYGM
11 11.06 AGXT GRHPR HOGA1

GO Terms for Carbohydrate Metabolic Disorder

Cellular components related to Carbohydrate Metabolic Disorder according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular exosome GO:0070062 9.23 ALDOB BTD CLIC1 GAA GALK1 GBE1

Biological processes related to Carbohydrate Metabolic Disorder according to GeneCards Suite gene sharing:

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 metabolic process GO:0008152 9.76 AGL GAA LCT PYGM
2 carbohydrate metabolic process GO:0005975 9.56 GAA GALK1 GALT GBE1 INS LCT
3 glycogen biosynthetic process GO:0005978 9.54 AGL GBE1
4 dolichol-linked oligosaccharide biosynthetic process GO:0006488 9.52 ALG2 ALG6
5 cellular nitrogen compound metabolic process GO:0034641 9.51 AGXT GRHPR
6 galactose metabolic process GO:0006012 9.49 GALK1 GALT
7 galactose catabolic process GO:0019388 9.48 GALK1 GALT
8 glycogen catabolic process GO:0005980 9.46 AGL G6PC GAA PYGM
9 pyruvate biosynthetic process GO:0042866 9.43 AGXT HOGA1
10 glyoxylate metabolic process GO:0046487 9.43 AGXT GRHPR HOGA1
11 galactose catabolic process via UDP-galactose GO:0033499 9.4 GALK1 GALT
12 oligosaccharide-lipid intermediate biosynthetic process GO:0006490 9.37 ALG2 ALG6
13 glyoxylate catabolic process GO:0009436 9.32 AGXT HOGA1
14 glycogen metabolic process GO:0005977 9.1 AGL G6PC GAA GBE1 PHKA2 PYGM

Molecular functions related to Carbohydrate Metabolic Disorder according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transferase activity GO:0016740 9.76 AGL AGXT ALG2 ALG6 GALK1 GALT
2 hydrolase activity, acting on glycosyl bonds GO:0016798 9.43 AGL GAA LCT
3 transferase activity, transferring glycosyl groups GO:0016757 9.35 AGL ALG2 ALG6 GBE1 PYGM
4 phosphotransferase activity, alcohol group as acceptor GO:0016773 9.32 G6PC GALK1
5 hydrolase activity, hydrolyzing O-glycosyl compounds GO:0004553 8.8 GAA GBE1 LCT

Sources for Carbohydrate Metabolic Disorder

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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