Aliases & Classifications for Cblf

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Aliases & Descriptions for Cblf:

Name: Cblf 22
 
Methylmalonic Aciduria and Homocystinuria, Cblf Type 65

Classifications:



External Ids:

UMLS65 C1848578

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 duarte variant galactosemia, and has symptoms including abnormal coordination, lethargy and exanthema. 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. Affiliated tissues include prostate, b cells and t cells.

Symptoms for Cblf

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UMLS symptoms related to Cblf:


abnormal coordination, lethargy, exanthema

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 Cblf22 LMBRD1

Anatomical Context for Cblf

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MalaCards organs/tissues related to Cblf:

33
Prostate, B cells, T cells, Myeloid, Liver

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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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
48.1LMBRD1, MTR, MUT, TCN2
5
Show member pathways
8.1LMBRD1, MTR, MUT, TCN2
6
Show member pathways
7.6LMBR1, LMBRD1, 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 metabolic processGO:000923510.0LMBRD1, MTR
2vitamin metabolic processGO:00067669.5LMBRD1, MTR
3water-soluble vitamin metabolic processGO:00067678.6LMBRD1, MUT, TCN2

Sources for Cblf

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet