Aliases & Classifications for Cblf

About this section

Aliases & Descriptions for Cblf:

Name: Cblf 23
 
Methylmalonic Aciduria and Homocystinuria, Cblf Type 66

Classifications:



Summaries for Cblf

About this section
MalaCards based summary: Cblf, also known as methylmalonic aciduria and homocystinuria, cblf type, is related to methylmalonic aciduria and homocystinuria, cblf type and dysferlinopathy, 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

About this section

Graphical network of diseases related to Cblf:



Diseases related to cblf

Symptoms for Cblf

About this section

UMLS symptoms related to Cblf:


exanthema, lethargy, abnormal coordination

Drugs & Therapeutics for Cblf

About this section

Interventional clinical trials:

Genetic Tests for Cblf

About this section

Genetic tests related to Cblf:

id Genetic test Affiliating Genes
1 Cblf23 LMBRD1

Anatomical Context for Cblf

About this section

Animal Models for Cblf or affiliated genes

About this section

Publications for Cblf

About this section

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

About this section

Expression for genes affiliated with Cblf

About this section
Search GEO for disease gene expression data for Cblf.

Pathways for genes affiliated with Cblf

About this section

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
9.1MTR, MUT
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

About this section

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

idNameGO IDScoreTop Affiliating Genes
1cobalamin transportGO:00158899.4LMBRD1, TCN2
2cobalamin metabolic processGO:00092357.8LMBRD1, 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

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet