CBLG
MCID: CBL007
MIFTS: 25

Cblg (CBLG) malady

Genetic diseases (common) category
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Summaries for Cblg

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33MalaCards
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MalaCards: Cblg is related to hyperhomocysteinemia and homocystinuria-megaloblastic anemia, cblg complementation type. An important gene associated with Cblg is MTR (5-methyltetrahydrofolate-homocysteine methyltransferase), and among its related pathways are Selenium Pathway and Vitamin digestion and absorption. The compounds s-adenosylhomocysteine and hydroxocobalamin have been mentioned in the context of this disorder.

Aliases & Classifications for Cblg

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20GeneTests
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Classifications:

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


Aliases & Descriptions:

cblg 20


Related Diseases for Cblg

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17GeneCards, 18GeneDecks
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Graphical network of diseases related to Cblg:



Diseases related to cblg

Symptoms for Cblg

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Drugs & Therapeutics for Cblg

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42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

Search ClinicalTrials for Cblg

Search NIH Clinical Center for Cblg

Genetic Tests for Cblg

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20GeneTests
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Genetic tests related to Cblg:

id Genetic test Affiliating Genes
1 Cblg20 MTR

Anatomical Context for Cblg

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Animal Models for Cblg or affiliated genes

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Publications for Cblg

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52PubMed
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Articles related to Cblg:

(show all 11)
idTitleAuthorsYear
1
Interaction between methionine synthase isoforms and MMACHC: characterization in cblG-variant, cblG and cblC inherited causes of megaloblastic anaemia. (23825108)
2013
2
Hyperhomocysteinemia due to methionine synthase deficiency, cblG: structure of the MTR gene, genotype diversity, and recognition of a common mutation, P1173L. (12068375)
2002
3
Functionally null mutations in patients with the cblG-variant form of methionine synthase deficiency. (9683607)
1998
4
Functional methionine synthase deficiency due to cblG disorder: a report of two patients and a review. (9286442)
1997
5
Human methionine synthase: cDNA cloning and identification of mutations in patients of the cblG complementation group of folate/cobalamin disorders. (8968737)
1996
6
Defects in human methionine synthase in cblG patients. (8968736)
1996
7
Heterogeneity in cblG: differential retention of cobalamin on methionine synthase. (1627355)
1992
8
Selective deficiencies of methyl-B12 (cblE and cblG) (2535440)
1989
9
Functional methionine synthase deficiency (cblE and cblG): clinical and biochemical heterogeneity. (2688421)
1989
10
Hereditary defect of cobalamin metabolism (cblG mutation) presenting as a neurologic disorder in adulthood. (2897628)
1988
11
Genetic heterogeneity among patients with methylcobalamin deficiency. Definition of two complementation groups, cblE and cblG. (3384945)
1988

Variations for Cblg

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Expression for genes affiliated with Cblg

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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Cblg

Search GEO for disease gene expression data for Cblg.

Pathways for genes affiliated with Cblg

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50PathCards, 38NCBI BioSystems Database, 30KEGG, 55Reactome
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Pathways related to Cblg according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
thioredoxin pathway38
9.7MTR, PNPO
28.6SLC52A3, MMACHC, GIF
36.1MMACHC, GIF, NAPRT1, AMN, PNPO, MOCS2
4
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
6.1SLC52A3, PNPO, AMN, NAPRT1, GIF, MMACHC
5
Show member pathways
5.8PNPO, AMN, NAPRT1, GIF, MMACHC, MOCS2

Compounds for genes affiliated with Cblg

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45Novoseek, 24HMDB, 11DrugBank, 51PharmGKB
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Compounds related to Cblg according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1s-adenosylhomocysteine45 2410.9COMT, MTR
2hydroxocobalamin45 1110.6MMACHC, MTR, AMN
3pterin45 2410.6MOCS2, MTR
4cyanocobalamin51 24 1111.5MTR, MMACHC, AMN
5vitamin b6459.4PNPO, MTR
6pyridoxal 5-phosphate459.3PNPO, COMT, MTR
7cobalt45 2410.0MTR, MMACHC, GIF
8vitamin b12458.8GIF, MMACHC, MTR, COMT
9cobalamin45 249.8CD320, MTR, MMACHC, GIF

GO Terms for genes affiliated with Cblg

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16Gene Ontology
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Cellular components related to Cblg according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cytosolGO:0058297.9COMT, MTR, MOCS2, MMACHC, NAPRT1, PNPO

Biological processes related to Cblg according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1methylationGO:0322599.9COMT, MTR
2cobalamin transportGO:0158899.0GIF, AMN
3cobalamin metabolic processGO:0092358.1CD320, MTR, MMACHC, GIF, AMN
4vitamin metabolic processGO:0067666.2SLC52A3, PNPO, CD320, MTR, MOCS2, MMACHC
5water-soluble vitamin metabolic processGO:0067676.2PNPO, AMN, NAPRT1, GIF, MMACHC, MOCS2
6small molecule metabolic processGO:0442815.8CD320, COMT, MTR, MOCS2, MMACHC, GIF

Molecular functions related to Cblg according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cobalamin bindingGO:0314198.6CD320, MTR, MMACHC, GIF

Products for genes affiliated with Cblg

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Cblg

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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