CBLG
MCID: CBL007
MIFTS: 25

Cblg (CBLG) malady

Genetic diseases (common) category

Summaries for Cblg

About this section
Sources:
34MalaCards
See all sources

Fully expand this MalaCard

Download this MalaCard
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

About this section
Sources:
21GeneTests
See all sources

Classifications:

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


Aliases & Descriptions:

cblg 21


Related Diseases for Cblg

About this section
Sources:
18GeneCards, 19GeneDecks
See all sources

Graphical network of diseases related to Cblg:



Diseases related to cblg

Symptoms for Cblg

About this section

Drugs & Therapeutics for Cblg

About this section
Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
See all sources

Approved drugs:

Search CenterWatch for Cblg

Drug clinical trials:

Search ClinicalTrials for Cblg

Search NIH Clinical Center for Cblg

Search CenterWatch for Cblg

Genetic Tests for Cblg

About this section
Sources:
21GeneTests
See all sources

Genetic tests related to Cblg:

id Genetic test Affiliating Genes
1 Cblg21 MTR

Anatomical Context for Cblg

About this section

Animal Models for Cblg or affiliated genes

About this section

Publications for Cblg

About this section
Sources:
53PubMed
See all sources

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

About this section

Expression for genes affiliated with Cblg

About this section
Sources:
2BioGPS, 16Gene Expression Omnibus DataSets
See all sources
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

About this section
Sources:
51PathCards, 39NCBI BioSystems Database, 31KEGG, 56Reactome
See all sources

Pathways related to Cblg according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
thioredoxin pathway39
9.7MTR, PNPO
28.6SLC52A3, MMACHC, GIF
36.1MMACHC, GIF, NAPRT1, AMN, PNPO, MOCS2
4
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
6.1SLC52A3, PNPO, AMN, NAPRT1, GIF, MMACHC
5
Show member pathways
5.8PNPO, AMN, NAPRT1, GIF, MMACHC, MOCS2

Compounds for genes affiliated with Cblg

About this section
Sources:
46Novoseek, 25HMDB, 12DrugBank, 52PharmGKB
See all sources

Compounds related to Cblg according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1s-adenosylhomocysteine46 2510.9COMT, MTR
2hydroxocobalamin46 1210.6MMACHC, MTR, AMN
3pterin46 2510.6MOCS2, MTR
4cyanocobalamin52 25 1211.5MTR, MMACHC, AMN
5vitamin b6469.4PNPO, MTR
6pyridoxal 5-phosphate469.3PNPO, COMT, MTR
7cobalt46 2510.0MTR, MMACHC, GIF
8vitamin b12468.8GIF, MMACHC, MTR, COMT
9cobalamin46 259.8CD320, MTR, MMACHC, GIF

GO Terms for genes affiliated with Cblg

About this section
Sources:
17Gene Ontology
See all sources

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

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Cblg

About this section
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