CBLF
MCID: CBL006
MIFTS: 27

Cblf (CBLF) malady

Genetic diseases (common) category
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Summaries for Cblf

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MalaCards based summary: 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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Cblf, Aliases & Descriptions:

Name: Cblf 20
 
Methylmalonic Aciduria and Homocystinuria, Cblf Type 62


Classifications:

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


Related Diseases for Cblf

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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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Drug clinical trials:

Search ClinicalTrials for Cblf

Search NIH Clinical Center for Cblf

Genetic Tests for Cblf

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Genetic tests related to Cblf:

id Genetic test Affiliating Genes
1 Cblf20 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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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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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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Pathways related to Cblf according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
One Carbon Metabolism37
dTMP de novo biosynthesis (mitochondrial)37
tetrahydrofolate salvage from 5,10-methenyltetrahydrofolate37
Trans-sulfuration and one carbon metabolism37
methionine salvage37
Methionine metabolism60
9.8MTR, TCN2
2
Show member pathways
thioredoxin pathway37
9.6MTR, PNPO
39.2LMBRD1, MMACHC, TCN2
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
6.2CD320, PNPO, AMN, LMBRD1, NAPRT1, MUT
5
Show member pathways
6.2PNPO, AMN, LMBRD1, NAPRT1, MUT, MMACHC
66.2PNPO, AMN, LMBRD1, NAPRT1, MUT, MMACHC

Compounds for genes affiliated with Cblf

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Sources:
44Novoseek, 24HMDB, 11DrugBank, 50PharmGKB
See all sources

Compounds related to Cblf according to GeneCards/GeneDecks:

(show all 17)
idCompoundScoreTop Affiliating Genes
1l-methylmalonyl-coa4410.0MUT, MTR
2corrinoid449.9MTR, TCN2
3cystathionine449.8MTR, TCN2
4homocysteine44 2410.8MTR, TCN2
5adenosylcobalamin44 2410.7MUT, TCN2, MTR
6methylcobalamin44 2410.7MTR, TCN2, MUT
7methylmalonic acid44 2410.7MTR, TCN2, MUT
8folate449.5MUT, TCN2, MTR
9biotin44 24 1111.5TCN2, MUT
10pyridoxal 5-phosphate449.5PNPO, MTR
11methionine449.4MTR, TCN2, MUT
12vitamin b6449.4MTR, TCN2, PNPO
13cobalt44 2410.1MTR, TCN2, MMACHC, MUT
14vitamin b12449.1MUT, MMACHC, TCN2, MTR
15hydroxocobalamin44 119.7MTR, AMN, MUT, MMACHC, TCN2
16cyanocobalamin50 24 1110.7AMN, MUT, MMACHC, TCN2, MTR
17cobalamin44 249.6MUT, MMACHC, TCN2, MTR, CD320

GO Terms for genes affiliated with Cblf

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Biological processes related to Cblf according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cobalamin transportGO:0158899.7TCN2, AMN
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:0442815.9PNPO, AMN, LMBRD1, NAPRT1, MUT, MMACHC

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

Sources for Cblf

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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