CBLF
MCID: CBL006
MIFTS: 27

Cblf (CBLF) malady

Genetic diseases (common) category
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Summaries for Cblf

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33MalaCards
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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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62UMLS, 20GeneTests
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Classifications:

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


Aliases & Descriptions:

cblf 20
methylmalonic aciduria and homocystinuria, cblf type 62


Related Diseases for Cblf

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17GeneCards, 18GeneDecks
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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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42NIH Clinical Center, 6ClinicalTrials
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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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20GeneTests
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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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52PubMed
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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, 15Gene 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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50PathCards, 30KEGG, 38NCBI BioSystems Database, 51PharmGKB, 60Thomson Reuters, 55Reactome
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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 Metabolism38
dTMP de novo biosynthesis (mitochondrial)38
tetrahydrofolate salvage from 5,10-methenyltetrahydrofolate38
Trans-sulfuration and one carbon metabolism38
methionine salvage38
Methionine metabolism60
9.8MTR, TCN2
2
Show member pathways
thioredoxin pathway38
9.6MTR, PNPO
39.2TCN2, MMACHC, LMBRD1
4
Show member pathways
flavin biosynthesis IV (mammalian)38
molybdenum cofactor biosynthesis38
coenzyme A biosynthesis38
thiamin salvage III38
alanine biosynthesis III38
thio-molybdenum cofactor biosynthesis38
biotin-carboxyl carrier protein assembly38
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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45Novoseek, 24HMDB, 11DrugBank, 51PharmGKB
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Compounds related to Cblf according to GeneCards/GeneDecks:

(show all 17)
idCompoundScoreTop Affiliating Genes
1l-methylmalonyl-coa4510.0MUT, MTR
2corrinoid459.9TCN2, MTR
3cystathionine459.8TCN2, MTR
4homocysteine45 2410.8MTR, TCN2
5adenosylcobalamin45 2410.7MTR, TCN2, MUT
6methylcobalamin45 2410.7MTR, TCN2, MUT
7methylmalonic acid45 2410.7MUT, TCN2, MTR
8folate459.5MTR, TCN2, MUT
9biotin45 24 1111.5TCN2, MUT
10pyridoxal 5-phosphate459.5PNPO, MTR
11methionine459.4TCN2, MUT, MTR
12vitamin b6459.4MTR, TCN2, PNPO
13cobalt45 2410.1MTR, TCN2, MMACHC, MUT
14vitamin b12459.1MUT, MTR, TCN2, MMACHC
15hydroxocobalamin45 119.7TCN2, MMACHC, MUT, AMN, MTR
16cyanocobalamin51 24 1110.7AMN, MTR, TCN2, MMACHC, MUT
17cobalamin45 249.6MUT, MTR, MMACHC, TCN2, CD320

GO Terms for genes affiliated with Cblf

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16Gene 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
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet