MCID: CBL007
MIFTS: 21

Cblg malady

Genetic diseases (common) category

Aliases & Classifications for Cblg

About this section

Cblg, Aliases & Descriptions:

Name: Cblg 20


Classifications:

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


Summaries for Cblg

About this section


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.

Related Diseases for Cblg

About this section

Graphical network of diseases related to Cblg:



Diseases related to cblg

Symptoms for Cblg

About this section

Drugs & Therapeutics for Cblg

About this section

Drug clinical trials:

Search ClinicalTrials for Cblg

Search NIH Clinical Center for Cblg

Genetic Tests for Cblg

About this section

Genetic tests related to Cblg:

id Genetic test Affiliating Genes
1 Cblg20 MTR

Anatomical Context for Cblg

About this section

Animal Models for Cblg or affiliated genes

About this section

Publications for Cblg

About this section

Articles related to Cblg:

(show all 11)
idTitleAuthorsYear
1
Clinical onset and course, response to treatment and outcome in 24 patients with the cblE or cblG remethylation defect complemented by genetic and in vitro enzyme study data. (25526710)
2014
2
Interaction between methionine synthase isoforms and MMACHC: characterization in cblG-variant, cblG and cblC inherited causes of megaloblastic anaemia. (23825108)
2013
3
Hyperhomocysteinemia due to methionine synthase deficiency, cblG: structure of the MTR gene, genotype diversity, and recognition of a common mutation, P1173L. (12068375)
2002
4
Functionally null mutations in patients with the cblG-variant form of methionine synthase deficiency. (9683607)
1998
5
Functional methionine synthase deficiency due to cblG disorder: a report of two patients and a review. (9286442)
1997
6
Human methionine synthase: cDNA cloning and identification of mutations in patients of the cblG complementation group of folate/cobalamin disorders. (8968737)
1996
7
Defects in human methionine synthase in cblG patients. (8968736)
1996
8
Heterogeneity in cblG: differential retention of cobalamin on methionine synthase. (1627355)
1992
9
Selective deficiencies of methyl-B12 (cblE and cblG) (2535440)
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
Search GEO for disease gene expression data for Cblg.

Pathways for genes affiliated with Cblg

About this section

Pathways related to Cblg according to GeneCards Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
thioredoxin pathway36
9.7MTR, PNPO
28.6SLC52A3, MMACHC, GIF
36.1MMACHC, GIF, NAPRT1, AMN, PNPO, MOCS2
4
Show member pathways
flavin biosynthesis IV (mammalian)36
molybdenum cofactor biosynthesis36
coenzyme A biosynthesis36
thiamin salvage III36
alanine biosynthesis III36
thio-molybdenum cofactor biosynthesis36
biotin-carboxyl carrier protein assembly36
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:
43Novoseek, 24HMDB, 49PharmGKB, 12DrugBank
See all sources

Compounds related to Cblg according to GeneCards Suite gene sharing:

idCompoundScoreTop Affiliating Genes
1s-adenosylhomocysteine43 2410.9COMT, MTR
2cyanocobalamin49 24 1211.6AMN, MMACHC, MTR
3pterin43 2410.6MTR, MOCS2
4hydroxocobalamin43 1210.5AMN, MMACHC, MTR
5vitamin b6439.4MTR, PNPO
6pyridoxal 5-phosphate439.3PNPO, MTR, COMT
7cobalt43 2410.0MTR, MMACHC, GIF
8vitamin b12438.8GIF, MMACHC, MTR, COMT
9cobalamin43 249.8CD320, MTR, MMACHC, GIF

GO Terms for genes affiliated with Cblg

About this section

Cellular components related to Cblg according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1cytosolGO:00058297.9COMT, MTR, MOCS2, MMACHC, NAPRT1, PNPO

Biological processes related to Cblg according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1methylationGO:00322599.9COMT, MTR
2cobalamin transportGO:00158899.0GIF, AMN
3cobalamin metabolic processGO:00092358.1CD320, MTR, MMACHC, GIF, AMN
4vitamin metabolic processGO:00067666.2SLC52A3, PNPO, CD320, MTR, MOCS2, MMACHC
5water-soluble vitamin metabolic processGO:00067676.2PNPO, AMN, NAPRT1, GIF, MMACHC, MOCS2
6small molecule metabolic processGO:00442815.8CD320, COMT, MTR, MOCS2, MMACHC, GIF

Molecular functions related to Cblg according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1cobalamin bindingGO:00314198.6CD320, MTR, MMACHC, GIF

Products for genes affiliated with Cblg

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Cblg

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet