CBLG
MCID: CBL007
MIFTS: 25

Cblg (CBLG) malady

Genetic diseases (common) category
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Summaries for Cblg

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MalaCards based summary: 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 cyanocobalamin have been mentioned in the context of this disorder.

Aliases & Classifications for Cblg

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Cblg, Aliases & Descriptions:

Name: Cblg 20


Classifications:

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


Related Diseases for Cblg

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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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Drug clinical trials:

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Search NIH Clinical Center for Cblg

Genetic Tests for Cblg

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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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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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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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Pathways related to Cblg according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
thioredoxin pathway37
9.7MTR, PNPO
28.6GIF, MMACHC, SLC52A3
36.1PNPO, AMN, NAPRT1, GIF, MMACHC, MOCS2
4
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
6.1SLC52A3, 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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Sources:
44Novoseek, 24HMDB, 50PharmGKB, 11DrugBank
See all sources

Compounds related to Cblg according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1s-adenosylhomocysteine44 2410.9COMT, MTR
2cyanocobalamin50 24 1111.6AMN, MMACHC, MTR
3pterin44 2410.6MTR, MOCS2
4hydroxocobalamin44 1110.5AMN, MMACHC, MTR
5vitamin b6449.4MTR, PNPO
6pyridoxal 5-phosphate449.3PNPO, MTR, COMT
7cobalt44 2410.0MTR, MMACHC, GIF
8vitamin b12448.8GIF, MMACHC, MTR, COMT
9cobalamin44 249.8CD320, MTR, MMACHC, GIF

GO Terms for genes affiliated with Cblg

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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:0092358.1AMN, GIF, MMACHC, MTR, CD320
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:0442815.8PNPO, AMN, NAPRT1, GIF, MMACHC, MOCS2

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

Sources for Cblg

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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