CBLE
MCID: CBL005
MIFTS: 27

Cble (CBLE) malady

Genetic diseases (common) category
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Summaries for Cble

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MalaCards based summary: Cble is related to homocystinuria and homocysteinemia. An important gene associated with Cble is MTRR (5-methyltetrahydrofolate-homocysteine methyltransferase reductase), and among its related pathways are Sulfur amino acid metabolism and One carbon pool by folate. The compounds Cob(I)alamin and cob(ii)alamin have been mentioned in the context of this disorder.

Aliases & Classifications for Cble

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Cble, Aliases & Descriptions:

Name: Cble 20


Classifications:

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


Related Diseases for Cble

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Graphical network of diseases related to Cble:



Diseases related to cble

Symptoms for Cble

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Drugs & Therapeutics for Cble

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Drug clinical trials:

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Search NIH Clinical Center for Cble

Genetic Tests for Cble

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Genetic tests related to Cble:

id Genetic test Affiliating Genes
1 Cble20 MTRR

Anatomical Context for Cble

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Animal Models for Cble or affiliated genes

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Publications for Cble

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Articles related to Cble:

(show all 12)
idTitleAuthorsYear
1
cblE-Type Homocystinuria Presenting with Features of Haemolytic-Uremic Syndrome in the Newborn Period. (23430521)
2013
2
Atypical glomerulopathy associated with the cblE inborn error of vitamin Ba88a88 metabolism. (23503767)
2013
3
The deep intronic c.903+469T>C mutation in the MTRR gene creates an SF2/ASF binding exonic splicing enhancer, which leads to pseudoexon activation and causes the cblE type of homocystinuria. (20120036)
2010
4
cblE type of homocystinuria due to methionine synthase reductase deficiency: functional correction by minigene expression. (15714522)
2005
5
CblE type of homocystinuria: mild clinical phenotype in two patients homozygous for a novel mutation in the MTRR gene. (12971424)
2003
6
CblE type of homocystinuria due to methionine synthase reductase deficiency: clinical and molecular studies and prenatal diagnosis in two families. (12555939)
2002
7
Molecular basis for methionine synthase reductase deficiency in patients belonging to the cblE complementation group of disorders in folate/cobalamin metabolism. (10484769)
1999
8
Cobalamin E (cblE) disease: a severe neurological disorder with megaloblastic anaemia, homocystinuria and low serum methionine. (9323567)
1997
9
Folate-responsive homocystinuria and megaloblastic anaemia in a female patient with functional methionine synthase deficiency (cblE disease). (9427140)
1997
10
Selective deficiencies of methyl-B12 (cblE and cblG) (2535440)
1989
11
Functional methionine synthase deficiency (cblE and cblG): clinical and biochemical heterogeneity. (2688421)
1989
12
Genetic heterogeneity among patients with methylcobalamin deficiency. Definition of two complementation groups, cblE and cblG. (3384945)
1988

Variations for Cble

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Expression for genes affiliated with Cble

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Expression patterns in normal tissues for genes affiliated with Cble

Search GEO for disease gene expression data for Cble.

Pathways for genes affiliated with Cble

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Pathways related to Cble according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.9MTR, MTRR
2
Show member pathways
One Carbon Metabolism37
dTMP de novo biosynthesis (mitochondrial)37
tetrahydrofolate salvage from 5,10-methenyltetrahydrofolate37
Trans-sulfuration and one carbon metabolism37
methionine salvage37
Methionine metabolism60
9.9MTR, MTRR
3
Show member pathways
thioredoxin pathway37
9.6MTR, PNPO
4
Show member pathways
Vitamin B12 Metabolism37
9.4GIF, MTRR
58.6SLC52A3, MMACHC, GIF
66.3PNPO, AMN, NAPRT1, GIF, MMACHC, MTRR
7
Show member pathways
6.3PNPO, AMN, NAPRT1, GIF, MMACHC, MTRR
8
Show member pathways
flavin biosynthesis IV (mammalian)37
molybdenum cofactor biosynthesis37
coenzyme A biosynthesis37
thiamin salvage III37
alanine biosynthesis III37
thio-molybdenum cofactor biosynthesis37
biotin-carboxyl carrier protein assembly37
6.3SLC52A3, PNPO, AMN, NAPRT1, GIF, MMACHC

Compounds for genes affiliated with Cble

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Sources:
24HMDB, 44Novoseek, 11DrugBank, 50PharmGKB
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Compounds related to Cble according to GeneCards/GeneDecks:

(show all 21)
idCompoundScoreTop Affiliating Genes
1Cob(I)alamin2410.2MTRR, MTR
2cob(ii)alamin44 2411.1MTRR, MTR
3methylcobalamin44 2411.1MTRR, MTR
4b vitamins4410.1MTRR, MTR
55-methyltetrahydrofolate44 1111.1MTR, MTRR
6tetrahydrofolate4410.1MTR, MTRR
7L-Methionine24 1111.1MTRR, MTR
8betaine44 2411.1MTRR, MTR
9cystathionine4410.0MTR, MTRR
10methylmalonic acid44 2411.0MTRR, MTR
11flavin449.9MTR, MTRR
12s-adenosylhomocysteine44 2410.9MTR, MTRR
13flavin mononucleotide44 2410.8MTRR, PNPO
14vitamin b6449.6PNPO, MTR
15isoleucine449.6MTR, MTRR
16pyridoxal 5-phosphate449.5MTR, PNPO
17cyanocobalamin50 24 1111.4AMN, MMACHC, MTRR, MTR
18hydroxocobalamin44 1110.4AMN, MMACHC, MTRR, MTR
19cobalt44 2410.2MTR, MMACHC, GIF
20vitamin b12448.9GIF, MMACHC, MTRR, MTR
21cobalamin44 249.6CD320, MTR, MTRR, MMACHC, GIF

GO Terms for genes affiliated with Cble

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Cellular components related to Cble according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cytosolGO:0058298.5MTR, MTRR, MMACHC, NAPRT1, PNPO

Biological processes related to Cble according to GeneCards/GeneDecks:

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1sulfur amino acid metabolic processGO:0000969.9MTRR, MTR
2methylationGO:0322599.6MTRR, MTR
3cobalamin transportGO:0158899.2AMN, GIF
4cobalamin metabolic processGO:0092358.0CD320, MTR, MTRR, MMACHC, GIF, AMN
5water-soluble vitamin metabolic processGO:0067676.5PNPO, MTRR, MMACHC, GIF, NAPRT1, AMN
6vitamin metabolic processGO:0067666.4SLC52A3, CD320, MTR, MTRR, MMACHC, GIF
7small molecule metabolic processGO:0442816.3NAPRT1, MTR, MTRR, MMACHC, GIF, AMN

Molecular functions related to Cble according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1FMN bindingGO:0101819.7MTRR, PNPO
2cobalamin bindingGO:0314198.2CD320, MTR, MMACHC, GIF

Products for genes affiliated with Cble

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  • Antibodies
  • Proteins
  • Lysates

Sources for Cble

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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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet