MCID: CBL007
MIFTS: 22

Cblg malady

Genetic diseases (common), Metabolic diseases categories

Aliases & Classifications for Cblg

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Aliases & Descriptions for Cblg:

Name: Cblg 22
Homocystinuria-Megaloblastic Anemia Due to Defect in Cobalamin Metabolism, Cblg Complementation Type 22
 
Methylcobalamin Deficiency Cbl G Type 22


Classifications:



Summaries for Cblg

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MalaCards based summary: Cblg, also known as homocystinuria-megaloblastic anemia due to defect in cobalamin metabolism, cblg complementation type, is related to homocystinuria-megaloblastic anemia, cblg complementation type and homocystinuria-megaloblastic anemia, cbl e type. An important gene associated with Cblg is MTR (5-Methyltetrahydrofolate-Homocysteine Methyltransferase), and among its related pathways are One carbon pool by folate and Defective MTR causes methylmalonic aciduria and homocystinuria type cblG. Affiliated tissues include lung.

Related Diseases for Cblg

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Graphical network of the top 20 diseases related to Cblg:



Diseases related to cblg

Symptoms for Cblg

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Drugs & Therapeutics for Cblg

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Drugs for Cblg (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Pemetrexedapproved, investigational561150399-23-8446556, 60843
Synonyms:
(2R)-2-[[4-[2-(2-amino-4-oxo-1,7-dihydropyrrolo[2,3-d]pyrimidin-5-yl)ethyl]benzoyl]amino]pentanedioic acid
(2S)-2-[[4-[2-(2-amino-4-oxo-1,7-dihydropyrrolo[2,3-d]pyrimidin-5-yl)ethyl]benzoyl]amino]pentanedioic acid
137281-23-3
150399-23-8
1juj
2-[[4-[2-(2-amino-4-oxo-1,7-dihydropyrrolo[2,3-d]pyrimidin-5-yl)ethyl]benzoyl]amino]pentanedioic acid
2-{4-[2-(2-AMINO-4-OXO-4,7-DIHYDRO-3H-PYRROLO[2,3-D]PYRIMIDIN-5-YL)-ETHYL]-BENZOYLAMINO}-PENTANEDIOIC ACID
AC1L1U1D
AC1L2PDW
AC1L98DY
AC1L9JT6
AC1OCF51
AC1Q5R1W
Alimta
Alimta (TN)
Bio-0078
C20H19N5O6.2Na
C20H21N5O6
CHEBI:195145
CHEBI:43746
CHEBI:474008
CHEMBL1200373
CHEMBL225072
CHEMBL59843
CID125891
CID394493
CID446556
CID60843
CID6918197
D03828
D07472
DB00642
Disodium N-(p-(2-(2-amino-4,7-dihydro-4-oxo-1H-pyrrolo(2,3-d)pyrimidin-5-yl)ethyl)benzoyl)-L-glutamate
HSDB 7316
 
I06-1253
I06-1294
I06-2128
L-Glutamic acid, N-(4-(2-(2-amino-4,7-dihydro-4-oxo-1H-pyrrolo(2,3-d)pyrimidin-5-yl)ethyl)benzoyl)-, disodium salt
LS-172988
LS-173384
LY 231,514
LY 231514
LY-231,514
LY-2315
LY-231514
LY231514
LY231514 disodium
LYA
N-(4-(2-(2-Amino-3,4-dihydro-4-oxo-7H-pyrrolo(2,3-d)pyrimdin-5-yl)ethyl)benzoyl)glutamic acid
NCGC00167517-01
NCI60_035021
NSC698037
Pemetrexed
Pemetrexed (INN)
Pemetrexed Disodium
Pemetrexed [INN:BAN]
Pemetrexed disodium
Pemetrexed disodium (USAN)
Pemetrexed disodium [USAN]
Rolazar
SID50112739
ST51053024
Tifolar
UNII-04Q9AIZ7NO
UNII-2PKU919BA9
disodium (2R)-2-[[4-[2-(2-amino-4-oxo-1,7-dihydropyrrolo[2,3-d]pyrimidin-5-yl)ethyl]benzoyl]amino]pentanedioate
disodium (2S)-2-[[4-[2-(2-amino-4-oxo-1,7-dihydropyrrolo[2,3-d]pyrimidin-5-yl)ethyl]benzoyl]amino]pentanedioate
n-{4-[2-(2-amino-4-oxo-4,7-dihydro-1h-pyrrolo[2,3-d]pyrimidin-5-yl)ethyl]benzoyl}-d-glutamic acid
nchembio.108-comp6

Interventional clinical trials:

idNameStatusNCT IDPhase
1Cognitive Functioning and Quality of Life in CNS LymphomaCompletedNCT00581737
2Tumor Response to Pemetrexed Disodium in Patients With Stage III or Stage IV Non-Small Cell Lung Cancer Enrolled in Clinical Trial MCCRC-RC0524CompletedNCT00898820

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 Cblg22 MTR

Anatomical Context for Cblg

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MalaCards organs/tissues related to Cblg:

33
Lung

Animal Models for Cblg or affiliated genes

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Publications for Cblg

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Articles related to Cblg:

(show all 12)
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
Functional methionine synthase deficiency (cblE and cblG): clinical and biochemical heterogeneity. (2688421)
1989
11
Hereditary defect of cobalamin metabolism (cblG mutation) presenting as a neurologic disorder in adulthood. (2897628)
1988
12
Genetic heterogeneity among patients with methylcobalamin deficiency. Definition of two complementation groups, cblE and cblG. (3384945)
1988

Variations for Cblg

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Clinvar genetic disease variations for Cblg:

5 (show all 11)
id Gene Variation Type Significance SNP ID Assembly Location
1MTRNM_000254.2(MTR): c.3518C> T (p.Pro1173Leu)single nucleotide variantLikely pathogenic, Pathogenicrs121913578GRCh37Chr 1, 237058770: 237058770
2MTRNM_000254.2(MTR): c.2640_2642delAAT (p.Ile881del)deletionPathogenicrs797044443GRCh37Chr 1, 237044100: 237044102
3MTRNM_000254.2(MTR): c.2758C> G (p.His920Asp)single nucleotide variantPathogenicrs121913579GRCh37Chr 1, 237048502: 237048502
4MTRMTR, IVS3AS, A-G, -166single nucleotide variantPathogenic
5MTRNM_000254.2(MTR): c.2114_2115delTC (p.Leu705Glnfs)deletionPathogenicrs797044444GRCh37Chr 1, 237024495: 237024496
6MTRMTR, IVS6AS, G-A, LYS203single nucleotide variantPathogenic
7MTRNM_000254.2(MTR): c.3380dupA (p.Ala1128Glyfs)duplicationPathogenicrs797044445GRCh37Chr 1, 237057832: 237057832
8MTRNM_000254.2(MTR): c.1753C> T (p.Arg585Ter)single nucleotide variantPathogenicrs121913580GRCh37Chr 1, 237015878: 237015878
9MTRNM_000254.2(MTR): c.3613G> T (p.Glu1205Ter)single nucleotide variantPathogenicrs121913581GRCh37Chr 1, 237060320: 237060320
10MTRNM_000254.2(MTR): c.1228G> C (p.Ala410Pro)single nucleotide variantPathogenicrs121913582GRCh37Chr 1, 236998886: 236998886
11MTRNM_000254.2(MTR): c.2669_2670delTG (p.Val890Glyfs)deletionPathogenicrs794727395GRCh37Chr 1, 237044129: 237044130

Expression for genes affiliated with Cblg

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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 Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.3MTR, MTRR
2
Show member pathways
9.3MTR, MTRR
3
Show member pathways
9.3MTR, MTRR
4
Show member pathways
8.8COMT, MTR, MTRR
5
Show member pathways
8.5MMACHC, MTR, MTRR
68.5MMACHC, MTR, MTRR
7
Show member pathways
8.5MMACHC, MTR, MTRR
8
Show member pathways
8.5MMACHC, MTR, MTRR
9
Show member pathways
8.0COMT, MMACHC, MTR, MTRR

GO Terms for genes affiliated with Cblg

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

idNameGO IDScoreTop Affiliating Genes
1cytosolGO:00058298.0COMT, MMACHC, MTR, MTRR

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

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1methionine biosynthetic processGO:00090869.9MTR, MTRR
2sulfur amino acid metabolic processGO:00000969.8MTR, MTRR
3xenobiotic metabolic processGO:00068059.2COMT, MTR, MTRR
4cobalamin metabolic processGO:00092359.1MMACHC, MTR, MTRR
5cellular nitrogen compound metabolic processGO:00346419.0MTR, MTRR
6methylationGO:00322599.0COMT, MTR, MTRR
7vitamin metabolic processGO:00067668.8MMACHC, MTR, MTRR
8water-soluble vitamin metabolic processGO:00067678.8MMACHC, MTR, MTRR
9small molecule metabolic processGO:00442818.0COMT, MMACHC, MTR, MTRR

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

idNameGO IDScoreTop Affiliating Genes
1cobalamin bindingGO:00314199.1MMACHC, MTR

Sources for Cblg

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet