CBLF
MCID: CBL006
MIFTS: 20

Cblf (CBLF) malady

Category: Genetic diseases (common)

Aliases & Classifications for Cblf

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Aliases & Descriptions for Cblf:

Name: Cblf 24
 
Methylmalonic Aciduria and Homocystinuria, Cblf Type 68

Classifications:



Summaries for Cblf

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MalaCards based summary: Cblf, also known as methylmalonic aciduria and homocystinuria, cblf type, is related to methylmalonic aciduria and homocystinuria, cblf type and methylmalonic aciduria and homocystinuria, cblc type, and has symptoms including exanthema, lethargy and abnormal coordination. An important gene associated with Cblf is LMBRD1 (LMBR1 Domain Containing 1), and among its related pathways are Vitamin digestion and absorption and One carbon pool by folate.

Related Diseases for Cblf

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Graphical network of the top 20 diseases related to Cblf:



Diseases related to cblf

Symptoms & Phenotypes for Cblf

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UMLS symptoms related to Cblf:


exanthema, lethargy, abnormal coordination

Drugs & Therapeutics for Cblf

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Interventional clinical trials:

Genetic Tests for Cblf

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Genetic tests related to Cblf:

id Genetic test Affiliating Genes
1 Cblf24 LMBRD1

Anatomical Context for Cblf

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Publications for Cblf

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Articles related to Cblf:

(show all 12)
idTitleAuthorsYear
1
Guidelines for diagnosis and management of the cobalamin-related remethylation disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiency. (27905001)
2017
2
A patient with an inborn error of vitamin B12 metabolism (cblF) detected by newborn screening. (23776111)
2013
3
LMBRD1: the gene for the cblF defect of vitamin Ba88a88 metabolism. (20446115)
2011
4
Eighteen-year follow-up of a patient with cobalamin F disease (cblF): report and review. (21910240)
2011
5
Novel splice site mutations and a large deletion in three patients with the cblF inborn error of vitamin B12 metabolism. (21303734)
2011
6
A novel mutation in LMBRD1 causes the cblF defect of vitamin B(12) metabolism in a Turkish patient. (20127417)
2010
7
Insights into lysosomal cobalamin trafficking: lessons learned from cblF disease. (20174775)
2010
8
Identification of a putative lysosomal cobalamin exporter altered in the cblF defect of vitamin B12 metabolism. (19136951)
2009
9
Methylmalonic aciduria (cblF): case report and response to therapy. (9779804)
1998
10
Malabsorption of vitamin B12 from the intestine in a child with cblF disease: evidence for lysosomal-mediated absorption. (1611095)
1992
11
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
12
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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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 Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
19.4LMBRD1, TCN2
2
Show member pathways
9.3MTR, TCN2
3
Show member pathways
8.5MTR, MUT, TCN2
4
Show member pathways
8.5MTR, MUT, TCN2
5
Show member pathways
8.1LMBRD1, MTR, MUT, TCN2
68.1LMBRD1, MTR, MUT, TCN2

GO Terms for genes affiliated with Cblf

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

idNameGO IDScoreTop Affiliating Genes
1cobalamin transportGO:00158899.4LMBRD1, TCN2
2cobalamin metabolic processGO:00092358.3LMBRD1, MTR, MUT, TCN2

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

idNameGO IDScoreTop Affiliating Genes
1cobalamin bindingGO:00314198.1LMBRD1, MTR, MUT, TCN2

Sources for Cblf

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet