CBLD
MCID: CBL004
MIFTS: 27

Cbld (CBLD) malady

Genetic diseases (common) category

Summaries for Cbld

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34MalaCards
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MalaCards: Cbld is related to methylmalonic acidemia and homocystinuria. An important gene associated with Cbld is MMADHC (methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria), and among its related pathways are Selenium Pathway and Vitamin digestion and absorption. The compounds vitamin b12 and cobalt have been mentioned in the context of this disorder.

Aliases & Classifications for Cbld

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21GeneTests
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases (common)


Aliases & Descriptions:

cbld 21


Related Diseases for Cbld

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Sources:
18GeneCards, 19GeneDecks
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Graphical network of diseases related to Cbld:



Diseases related to cbld

Symptoms for Cbld

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Drugs & Therapeutics for Cbld

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

Search CenterWatch for Cbld

Drug clinical trials:

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Search NIH Clinical Center for Cbld

Search CenterWatch for Cbld

Genetic Tests for Cbld

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21GeneTests
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Genetic tests related to Cbld:

id Genetic test Affiliating Genes
1 Cbld21 MMADHC
2 Cbld (variant 1)21 MMADHC
3 Cbld (variant 2)21 MMADHC

Anatomical Context for Cbld

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Animal Models for Cbld or affiliated genes

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Publications for Cbld

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Sources:
53PubMed
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Articles related to Cbld:

idTitleAuthorsYear
1
Severe Neonatal Metabolic Decompensation in Methylmalonic Acidemia Caused by CblD Defect. (23686626)
2013
2
The C-terminal domain of CblD interacts with CblC and influences intracellular cobalamin partitioning. (23415655)
2013
3
Molecular mechanisms leading to three different phenotypes in the cblD defect of intracellular cobalamin metabolism. (22156578)
2012
4
Clinical and molecular heterogeneity in patients with the cblD inborn error of cobalamin metabolism. (19058814)
2009
5
Gene identification for the cblD defect of vitamin B12 metabolism. (18385497)
2008
6
The cblD defect causes either isolated or combined deficiency of methylcobalamin and adenosylcobalamin synthesis. (15292234)
2004
7
Prenatal diagnosis of combined methylmalonic aciduria and homocystinuria (cobalamin CblC or CblD mutant) (7916155)
1994
8
Metabolic cooperation among cell lines from patients with inborn errors of vitamin B12 metabolism: differential response of cblC and cblD. (1676355)
1991

Variations for Cbld

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Expression for genes affiliated with Cbld

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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Cbld

Search GEO for disease gene expression data for Cbld.

Pathways for genes affiliated with Cbld

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Sources:
51PathCards, 39NCBI BioSystems Database, 31KEGG, 56Reactome
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Pathways related to Cbld according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
thioredoxin pathway39
9.6MTR, PNPO
29.4SLC52A3, MMACHC
3
Show member pathways
7.1PNPO, AMN, NAPRT1, MMADHC, MMACHC, MTR
47.1PNPO, AMN, NAPRT1, MMADHC, MMACHC, MTR
5
Show member pathways
flavin biosynthesis IV (mammalian)39
molybdenum cofactor biosynthesis39
coenzyme A biosynthesis39
thiamin salvage III39
alanine biosynthesis III39
thio-molybdenum cofactor biosynthesis39
biotin-carboxyl carrier protein assembly39
7.1SLC52A3, PNPO, AMN, NAPRT1, MMADHC, MMACHC

Compounds for genes affiliated with Cbld

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46Novoseek, 25HMDB, 52PharmGKB, 12DrugBank
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Compounds related to Cbld according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1vitamin b12469.7MMACHC, MTR
2cobalt46 2510.6MMACHC, MTR
3vitamin b6469.6PNPO, MTR
4cyanocobalamin52 25 1211.5AMN, MMACHC, MTR
5hydroxocobalamin46 1210.5AMN, MMACHC, MTR
6cobalamin46 2510.4MMACHC, MTR, CD320
7pyridoxal 5-phosphate469.3PNPO, MTR

GO Terms for genes affiliated with Cbld

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17Gene Ontology
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Cellular components related to Cbld according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cytosolGO:0058298.5MTR, MMACHC, MMADHC, NAPRT1, PNPO

Biological processes related to Cbld according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cobalamin metabolic processGO:0092358.4AMN, MMADHC, MMACHC, MTR, CD320
2vitamin metabolic processGO:0067667.1SLC52A3, PNPO, AMN, NAPRT1, MMADHC, MMACHC
3small molecule metabolic processGO:0442817.1AMN, NAPRT1, MMADHC, MMACHC, MTR, CD320
4water-soluble vitamin metabolic processGO:0067677.0PNPO, AMN, NAPRT1, MMADHC, MMACHC, MTR

Molecular functions related to Cbld according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cobalamin bindingGO:0314199.4CD320, MTR, MMACHC

Products for genes affiliated with Cbld

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Cbld

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet