CBLC
MCID: CBL001
MIFTS: 29

Cblc (CBLC) malady

Summaries for Cblc

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33MalaCards
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MalaCards: Cblc is related to disorders of intracellular cobalamin metabolism and homocystinuria. An important gene associated with Cblc is MMACHC (methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria), and among its related pathways are Jak-STAT signaling pathway and PEDF Induced Signaling. The compounds Sargramostim and Adenosine monophosphate have been mentioned in the context of this disorder. Affiliated tissues include spinal cord and heart.

Aliases & Classifications for Cblc

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20GeneTests
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Aliases & Descriptions:

cblc 20


Related Diseases for Cblc

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17GeneCards, 18GeneDecks
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Graphical network of diseases related to Cblc:



Diseases related to cblc

Clinical Features for Cblc

Drugs & Therapeutics for Cblc

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5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Cblc

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20GeneTests
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Genetic tests related to Cblc:

id Genetic test Affiliating Genes
1 Cblc20 MMACHC

Anatomical Context for Cblc

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33MalaCards
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MalaCards organs/tissues related to Cblc:

33
Spinal cord, Heart

Animal Models for Cblc or affiliated genes

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28inGenious Targeting Laboratory
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Publications for Cblc

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51PubMed
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Articles related to Cblc:

(show top 50)    (show all 52)
idTitleAuthorsYear
1
Glutathione metabolism in cobalamin deficiency type C (cblC). (23568438)
2014
2
Novel Deletion Mutation Identified in a Patient with Late-Onset Combined Methylmalonic Acidemia and Homocystinuria, cblC Type. (23580368)
2013
3
Optimizing the dose of hydroxocobalamin in cobalamin C (cblC) defect. (23764205)
2013
4
Interaction between methionine synthase isoforms and MMACHC: characterization in cblG-variant, cblG and cblC inherited causes of megaloblastic anaemia. (23825108)
2013
5
The C-terminal domain of CblD interacts with CblC and influences intracellular cobalamin partitioning. (23415655)
2013
6
A clinical and gene analysis of late-onset combined methylmalonic aciduria and homocystinuria, cblC type, in China. (22560872)
2012
7
Combined methylmalonic acidemia and homocystinuria, cblC type. II. Complications, pathophysiology, and outcomes. (21748408)
2012
8
Combined methylmalonic acidemia and homocystinuria, cblC type. I. Clinical presentations, diagnosis and management. (21748409)
2012
9
Hyperpyrexia resulting in encephalopathy in a 14-month-old patient with cblC disease. (20926213)
2011
10
Combined methylmalonic aciduria and homocystinuria cblC type of a Taiwanese infant with c.609G>A and C.567dupT mutations in the MMACHC gene. (21835369)
2011
11
Newborn screening and early biochemical follow-up in combined methylmalonic aciduria and homocystinuria, cblC type, and utility of methionine as a secondary screening analyte. (19836982)
2010
12
Early onset methylmalonic aciduria and homocystinuria cblC type with demyelinating neuropathy. (20610126)
2010
13
Treatment of cobalamin C (cblC) deficiency during pregnancy. (20830523)
2010
14
CD46-associated atypical hemolytic uremic syndrome with uncommon course caused by cblC deficiency. (20652818)
2010
15
Clinical, biochemical, and molecular analysis of combined methylmalonic acidemia and hyperhomocysteinemia (cblC type) in China. (20924684)
2010
16
Different altered pattern expression of genes related to apoptosis in isolated methylmalonic aciduria cblB type and combined with homocystinuria cblC type. (20696242)
2010
17
Thermolability of mutant MMACHC protein in the vitamin B12-responsive cblC disorder. (20219402)
2010
18
Genetic and cellular studies of oxidative stress in methylmalonic aciduria (MMA) cobalamin deficiency type C (cblC) with homocystinuria (MMACHC). (19760748)
2009
19
Asymptomatic maternal combined homocystinuria and methylmalonic aciduria (cblC) detected through low carnitine levels on newborn screening. (19914430)
2009
20
High prevalence of structural heart disease in children with cblC-type methylmalonic aciduria and homocystinuria. (19767224)
2009
21
Mechanism of vitamin B12-responsiveness in cblC methylmalonic aciduria with homocystinuria. (19700356)
2009
22
Processing of alkylcobalamins in mammalian cells: A role for the MMACHC (cblC) gene product. (19447654)
2009
23
Abnormal mammary gland development in MMTV-CBLC transgenic mouse. (19414407)
2009
24
Hydroxocobalamin dose escalation improves metabolic control in cblC. (19821145)
2009
25
Fetal dilated cardiomyopathy: an unsuspected presentation of methylmalonic aciduria and hyperhomocystinuria, cblC type. (19248038)
2009
26
cblC: advances in defining the MMACHC mutation spectrum. (19551759)
2009
27
Spectrum of MMACHC mutations in Italian and Portuguese patients with combined methylmalonic aciduria and homocystinuria, cblC type. (18164228)
2008
28
Retinal dysfunction in combined methylmalonic aciduria and homocystinuria (Cblc) disease: a spectrum of disorders. (18454408)
2008
29
Hemolytic uremic syndrome (HUS) secondary to cobalamin C (cblC) disorder. (17874135)
2007
30
Marfanoid features in a child with combined methylmalonic aciduria and homocystinuria (CblC type). (17768669)
2007
31
DNA-based diagnosis of methylmalonic aciduria and homocystinuria, cblC type in a Chinese patient presenting with mild developmental delay. (16963011)
2007
32
Late-onset combined homocystinuria and methylmalonic aciduria (cblC) and neuropsychiatric disturbance. (17853453)
2007
33
Subacute combined degeneration of the spinal cord in cblC disorder despite treatment with B12. (16574454)
2006
34
Combined methylmalonic aciduria and homocystinuria (cblC): phenotype-genotype correlations and ethnic-specific observations. (16714133)
2006
35
Identification of the gene responsible for methylmalonic aciduria and homocystinuria, cblC type. (16311595)
2006
36
Late-onset thrombocytic microangiopathy caused by cblC disease: association with a factor H mutation. (15754282)
2005
37
Potential for misdiagnosis due to lack of metabolic derangement in combined methylmalonic aciduria/hyperhomocysteinemia (cblC) in the neonate. (12847533)
2003
38
Interaction between two ubiquitin-protein isopeptide ligases of different classes, CBLC and AIP4/ITCH. (12226085)
2002
39
CblC/D defect combined with haemodynamically highly relevant VSD. (11596656)
2001
40
Adult-onset combined methylmalonic aciduria and homocystinuria (cblC). (11320193)
2001
41
Characterization of the mouse Cblc/Cbl3 gene. (11162497)
2001
42
Optic atrophy in association with cobalamin C (cblC) disease. (11035547)
2000
43
Reversible dementia in an adolescent with cblC disease: clinical heterogeneity within the same family. (10472537)
1999
44
Progressive neurological deterioration and MRI changes in cblC methylmalonic acidaemia treated with hydroxocobalamin. (10399092)
1999
45
Biochemical and clinical response to hydroxocobalamin versus cyanocobalamin treatment in patients with methylmalonic acidemia and homocystinuria (cblC). (9470012)
1998
46
Clinical heterogeneity and prognosis in combined methylmalonic aciduria and homocystinuria (cblC). (9266389)
1997
47
Clinical and biochemical observations in a patient with combined Pompe disease and cblC mutation. (1537354)
1992
48
Metabolic cooperation among cell lines from patients with inborn errors of vitamin B12 metabolism: differential response of cblC and cblD. (1676355)
1991
49
cblC disease: case report and monitoring of a pregnancy at risk by chorionic villus sampling. (2364589)
1990
50
Cobalamin coenzyme synthesis in normal and mutant human fibroblasts. Evidence for a processing enzyme activity deficient in cblC cells. (500677)
1979

Genetic Variations for Cblc

Expression for genes affiliated with Cblc

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Cblc

Search GEO for disease gene expression data for Cblc.

Pathways for genes affiliated with Cblc

Sources:
30KEGG, 52QIAGEN, 54Reactome, 38NCBI BioSystems Database
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Compounds for genes affiliated with Cblc

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11DrugBank, 24HMDB, 45Novoseek
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Compounds related to Cblc according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1Sargramostim1110.6IL3RA, CSF2RA
2Adenosine monophosphate11 2411.5CBLC, ITCH, UBE2I, UBE2L6
3gp 1304510.5IL3RA, IL11RA, CSF2RA
4phosphoric acid45 2411.4UBE2L6, UBE2I, ITCH, CBLC
5pyrophosphate45 2411.2CBLC, ITCH, UBE2I, UBE2L6

GO Terms for genes affiliated with Cblc

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16Gene Ontology
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Biological processes related to Cblc according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1negative regulation of epidermal growth factor receptor signaling pathwayGO:04205910.5SPRY2, CBLC
2negative regulation of type I interferon productionGO:03248010.4ITCH, UBE2L6
3negative regulation of MAP kinase activityGO:04340710.2SPRY2, CBLC

Molecular functions related to Cblc according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1ubiquitin-protein ligase activityGO:00484210.5CBLC, TRAF4, ITCH, UBE2I, UBE2L6
2cytokine receptor activityGO:00489610.2IL13RA2, IL11RA, CSF2RA

Products for genes affiliated with Cblc

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Sources for Cblc

3CDC
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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet