CBLE
MCID: CBL005
MIFTS: 27

Cble (CBLE) malady

Genetic diseases (common) category

Summaries for Cble

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34MalaCards
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MalaCards: Cble is related to homocystinuria and homocystinuria-megaloblastic anemia, cblg complementation type. 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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21GeneTests
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Classifications:

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


Aliases & Descriptions:

cble 21


Related Diseases for Cble

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18GeneCards, 19GeneDecks
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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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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Search NIH Clinical Center for Cble

Search CenterWatch for Cble

Genetic Tests for Cble

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21GeneTests
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Genetic tests related to Cble:

id Genetic test Affiliating Genes
1 Cble21 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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53PubMed
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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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2BioGPS, 16Gene Expression Omnibus DataSets
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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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Sources:
51PathCards, 56Reactome, 39NCBI BioSystems Database, 31KEGG, 52PharmGKB, 61Thomson Reuters
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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 Metabolism39
dTMP de novo biosynthesis (mitochondrial)39
tetrahydrofolate salvage from 5,10-methenyltetrahydrofolate39
Trans-sulfuration and one carbon metabolism39
methionine salvage39
Methionine metabolism61
9.9MTR, MTRR
3
Show member pathways
thioredoxin pathway39
9.6MTR, PNPO
4
Show member pathways
Vitamin B12 Metabolism39
9.4GIF, MTRR
58.6MMACHC, GIF, SLC52A3
66.3CD320, MTR, MTRR, MMACHC, GIF, NAPRT1
7
Show member pathways
6.3CD320, MTRR, SLC52A3, MMACHC, GIF, MTR
8
Show member pathways
flavin biosynthesis IV (mammalian)39
molybdenum cofactor biosynthesis39
coenzyme A biosynthesis39
thiamin salvage III39
alanine biosynthesis III39
thio-molybdenum cofactor biosynthesis39
biotin-carboxyl carrier protein assembly39
6.3SLC52A3, PNPO, AMN, NAPRT1, GIF, MMACHC

Compounds for genes affiliated with Cble

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Sources:
25HMDB, 46Novoseek, 12DrugBank, 52PharmGKB
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Compounds related to Cble according to GeneCards/GeneDecks:

(show all 21)
idCompoundScoreTop Affiliating Genes
1Cob(I)alamin2510.2MTRR, MTR
2cob(ii)alamin46 2511.1MTRR, MTR
3b vitamins4610.1MTRR, MTR
4methylcobalamin46 2511.1MTRR, MTR
55-methyltetrahydrofolate46 1211.1MTR, MTRR
6tetrahydrofolate4610.1MTR, MTRR
7L-Methionine25 1211.1MTRR, MTR
8betaine46 2511.1MTR, MTRR
9cystathionine4610.0MTRR, MTR
10methylmalonic acid46 2511.0MTR, MTRR
11flavin469.9MTR, MTRR
12s-adenosylhomocysteine46 2510.9MTRR, MTR
13flavin mononucleotide46 2510.8PNPO, MTRR
14vitamin b6469.6PNPO, MTR
15isoleucine469.6MTRR, MTR
16pyridoxal 5-phosphate469.5PNPO, MTR
17hydroxocobalamin46 1210.4AMN, MMACHC, MTRR, MTR
18cyanocobalamin52 25 1211.4MTRR, MTR, MMACHC, AMN
19cobalt46 2510.2GIF, MTR, MMACHC
20vitamin b12468.9MTRR, MTR, MMACHC, GIF
21cobalamin46 259.6GIF, MMACHC, MTRR, MTR, CD320

GO Terms for genes affiliated with Cble

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17Gene Ontology
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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
  • Antibodies

Sources for Cble

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet