CBLF
MCID: CBL006
MIFTS: 21

Cblf (CBLF) malady

Categories: Genetic diseases

Aliases & Classifications for Cblf

Aliases & Descriptions for Cblf:

Name: Cblf 24
Methylmalonic Aciduria and Homocystinuria, Cblf Type 69

Classifications:



Summaries for Cblf

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/superpathways are Metabolism of water-soluble vitamins and cofactors and Folate Metabolism.

Related Diseases for Cblf

Graphical network of the top 20 diseases related to Cblf:



Diseases related to Cblf

Symptoms & Phenotypes for Cblf

UMLS symptoms related to Cblf:


exanthema, lethargy, abnormal coordination

Drugs & Therapeutics for Cblf

Genetic Tests for Cblf

Genetic tests related to Cblf:

id Genetic test Affiliating Genes
1 Cblf 24 LMBRD1

Anatomical Context for Cblf

Publications for Cblf

Articles related to Cblf:

(show all 12)
id Title Authors Year
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

Expression for Cblf

Search GEO for disease gene expression data for Cblf.

Pathways for Cblf

Pathways related to Cblf according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1
Show member pathways
11.87 LMBRD1 MTR MUT TCN2
2
Show member pathways
11.77 MTR MUT TCN2
3
Show member pathways
11.52 MTR TCN2
4
Show member pathways
11.31 MTR MUT TCN2
5 10.7 LMBRD1 TCN2
6 10.27 LMBRD1 MTR MUT TCN2

GO Terms for Cblf

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

id Name GO ID Score Top Affiliating Genes
1 cobalamin transport GO:0015889 8.96 LMBRD1 TCN2
2 cobalamin metabolic process GO:0009235 8.92 LMBRD1 MTR MUT TCN2

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

id Name GO ID Score Top Affiliating Genes
1 cobalamin binding GO:0031419 8.92 LMBRD1 MTR MUT TCN2

Sources for Cblf

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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