CBLE
MCID: CBL005
MIFTS: 27

Cble (CBLE) malady

Genetic diseases (common) category
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Summaries for Cble

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33MalaCards
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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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20GeneTests
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Classifications:

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


Aliases & Descriptions:

cble 20


Related Diseases for Cble

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17GeneCards, 18GeneDecks
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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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42NIH Clinical Center, 6ClinicalTrials
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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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20GeneTests
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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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52PubMed
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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, 15Gene 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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50PathCards, 55Reactome, 38NCBI BioSystems Database, 30KEGG, 51PharmGKB, 60Thomson 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 Metabolism38
dTMP de novo biosynthesis (mitochondrial)38
tetrahydrofolate salvage from 5,10-methenyltetrahydrofolate38
Trans-sulfuration and one carbon metabolism38
methionine salvage38
Methionine metabolism60
9.9MTR, MTRR
3
Show member pathways
thioredoxin pathway38
9.6MTR, PNPO
4
Show member pathways
Vitamin B12 Metabolism38
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)38
molybdenum cofactor biosynthesis38
coenzyme A biosynthesis38
thiamin salvage III38
alanine biosynthesis III38
thio-molybdenum cofactor biosynthesis38
biotin-carboxyl carrier protein assembly38
6.3SLC52A3, PNPO, AMN, NAPRT1, GIF, MMACHC

Compounds for genes affiliated with Cble

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24HMDB, 45Novoseek, 11DrugBank, 51PharmGKB
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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)alamin45 2411.1MTRR, MTR
3b vitamins4510.1MTRR, MTR
4methylcobalamin45 2411.1MTRR, MTR
55-methyltetrahydrofolate45 1111.1MTR, MTRR
6tetrahydrofolate4510.1MTR, MTRR
7L-Methionine24 1111.1MTRR, MTR
8betaine45 2411.1MTR, MTRR
9cystathionine4510.0MTRR, MTR
10methylmalonic acid45 2411.0MTR, MTRR
11flavin459.9MTR, MTRR
12s-adenosylhomocysteine45 2410.9MTRR, MTR
13flavin mononucleotide45 2410.8PNPO, MTRR
14vitamin b6459.6PNPO, MTR
15isoleucine459.6MTRR, MTR
16pyridoxal 5-phosphate459.5PNPO, MTR
17hydroxocobalamin45 1110.4AMN, MMACHC, MTRR, MTR
18cyanocobalamin51 24 1111.4MTRR, MTR, MMACHC, AMN
19cobalt45 2410.2GIF, MTR, MMACHC
20vitamin b12458.9MTRR, MTR, MMACHC, GIF
21cobalamin45 249.6GIF, MMACHC, MTRR, MTR, CD320

GO Terms for genes affiliated with Cble

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16Gene 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
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet