CBLF
MCID: CBL006
MIFTS: 27

Cblf (CBLF) malady

Genetic diseases (common) category

Summaries for Cblf

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34MalaCards
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MalaCards: Cblf, also known as methylmalonic aciduria and homocystinuria, cblf type, is related to methylmalonic acidemia and methylmalonic aciduria and homocystinuria type cblf. An important gene associated with Cblf is LMBRD1 (LMBR1 domain containing 1), and among its related pathways are One carbon pool by folate and Selenium Pathway. The compounds l-methylmalonyl-coa and corrinoid have been mentioned in the context of this disorder.

Aliases & Classifications for Cblf

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63UMLS, 21GeneTests
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Classifications:

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


Aliases & Descriptions:

cblf 21
methylmalonic aciduria and homocystinuria, cblf type 63


Related Diseases for Cblf

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18GeneCards, 19GeneDecks
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Graphical network of diseases related to Cblf:



Diseases related to cblf

Symptoms for Cblf

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Drugs & Therapeutics for Cblf

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

Search CenterWatch for Cblf

Drug clinical trials:

Search ClinicalTrials for Cblf

Search NIH Clinical Center for Cblf

Search CenterWatch for Cblf

Genetic Tests for Cblf

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21GeneTests
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Genetic tests related to Cblf:

id Genetic test Affiliating Genes
1 Cblf21 LMBRD1

Anatomical Context for Cblf

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Animal Models for Cblf or affiliated genes

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Publications for Cblf

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53PubMed
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Articles related to Cblf:

(show all 11)
idTitleAuthorsYear
1
A patient with an inborn error of vitamin B12 metabolism (cblF) detected by newborn screening. (23776111)
2013
2
LMBRD1: the gene for the cblF defect of vitamin Ba88a88 metabolism. (20446115)
2011
3
Novel splice site mutations and a large deletion in three patients with the cblF inborn error of vitamin B12 metabolism. (21303734)
2011
4
Eighteen-year follow-up of a patient with cobalamin F disease (cblF): report and review. (21910240)
2011
5
Insights into lysosomal cobalamin trafficking: lessons learned from cblF disease. (20174775)
2010
6
A novel mutation in LMBRD1 causes the cblF defect of vitamin B(12) metabolism in a Turkish patient. (20127417)
2010
7
Identification of a putative lysosomal cobalamin exporter altered in the cblF defect of vitamin B12 metabolism. (19136951)
2009
8
Methylmalonic aciduria (cblF): case report and response to therapy. (9779804)
1998
9
Malabsorption of vitamin B12 from the intestine in a child with cblF disease: evidence for lysosomal-mediated absorption. (1611095)
1992
10
Lysosomal cobalamin accumulation in fibroblasts from a patient with an inborn error of cobalamin metabolism (cblF complementation group): visualization by electron microscope radioautography. (2070814)
1991
11
Failure of lysosomal release of vitamin B12: a new complementation group causing methylmalonic aciduria (cblF). (3766542)
1986

Variations for Cblf

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Expression for genes affiliated with Cblf

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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Cblf

Search GEO for disease gene expression data for Cblf.

Pathways for genes affiliated with Cblf

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51PathCards, 31KEGG, 39NCBI BioSystems Database, 52PharmGKB, 61Thomson Reuters, 56Reactome
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Pathways related to Cblf according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
One Carbon Metabolism39
dTMP de novo biosynthesis (mitochondrial)39
tetrahydrofolate salvage from 5,10-methenyltetrahydrofolate39
Trans-sulfuration and one carbon metabolism39
methionine salvage39
Methionine metabolism61
9.8MTR, TCN2
2
Show member pathways
thioredoxin pathway39
9.6MTR, PNPO
39.2TCN2, MMACHC, LMBRD1
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
6.2CD320, PNPO, AMN, LMBRD1, NAPRT1, MUT
5
Show member pathways
6.2PNPO, AMN, LMBRD1, NAPRT1, MUT, MMACHC
66.2MMACHC, MUT, NAPRT1, LMBRD1, AMN, PNPO

Compounds for genes affiliated with Cblf

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46Novoseek, 25HMDB, 12DrugBank, 52PharmGKB
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Compounds related to Cblf according to GeneCards/GeneDecks:

(show all 17)
idCompoundScoreTop Affiliating Genes
1l-methylmalonyl-coa4610.0MUT, MTR
2corrinoid469.9TCN2, MTR
3cystathionine469.8TCN2, MTR
4homocysteine46 2510.8MTR, TCN2
5adenosylcobalamin46 2510.7MTR, TCN2, MUT
6methylcobalamin46 2510.7MTR, TCN2, MUT
7methylmalonic acid46 2510.7MUT, TCN2, MTR
8folate469.5MTR, TCN2, MUT
9biotin46 25 1211.5TCN2, MUT
10pyridoxal 5-phosphate469.5PNPO, MTR
11methionine469.4TCN2, MUT, MTR
12vitamin b6469.4MTR, TCN2, PNPO
13cobalt46 2510.1MTR, TCN2, MMACHC, MUT
14vitamin b12469.1MUT, MTR, TCN2, MMACHC
15hydroxocobalamin46 129.7TCN2, MMACHC, MUT, AMN, MTR
16cyanocobalamin52 25 1210.7AMN, MTR, TCN2, MMACHC, MUT
17cobalamin46 259.6MUT, MTR, MMACHC, TCN2, CD320

GO Terms for genes affiliated with Cblf

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17Gene Ontology
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Biological processes related to Cblf according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cobalamin transportGO:0158899.7AMN, TCN2
2cobalamin metabolic processGO:0092357.4CD320, MTR, TCN2, MMACHC, MUT, LMBRD1
3vitamin metabolic processGO:0067666.3CD320, MTR, TCN2, MMACHC, MUT, NAPRT1
4water-soluble vitamin metabolic processGO:0067676.2NAPRT1, LMBRD1, AMN, PNPO, MUT, MMACHC
5small molecule metabolic processGO:0442815.9MUT, NAPRT1, LMBRD1, AMN, MMACHC, TCN2

Molecular functions related to Cblf according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cobalamin bindingGO:0314198.0CD320, MTR, TCN2, MMACHC, MUT, LMBRD1

Products for genes affiliated with Cblf

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Cblf

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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