CBLD
MCID: CBL004
MIFTS: 27

Cbld (CBLD) malady

Genetic diseases (common) category
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Summaries for Cbld

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33MalaCards
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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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20GeneTests
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Classifications:

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


Aliases & Descriptions:

cbld 20


Related Diseases for Cbld

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17GeneCards, 18GeneDecks
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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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42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

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Search NIH Clinical Center for Cbld

Genetic Tests for Cbld

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20GeneTests
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Genetic tests related to Cbld:

id Genetic test Affiliating Genes
1 Cbld20 MMADHC
2 Cbld (variant 1)20 MMADHC
3 Cbld (variant 2)20 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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52PubMed
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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, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Cbld

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Pathways for genes affiliated with Cbld

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50PathCards, 38NCBI BioSystems Database, 30KEGG, 55Reactome
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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 pathway38
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)38
molybdenum cofactor biosynthesis38
coenzyme A biosynthesis38
thiamin salvage III38
alanine biosynthesis III38
thio-molybdenum cofactor biosynthesis38
biotin-carboxyl carrier protein assembly38
7.1SLC52A3, PNPO, AMN, NAPRT1, MMADHC, MMACHC

Compounds for genes affiliated with Cbld

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45Novoseek, 24HMDB, 51PharmGKB, 11DrugBank
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Compounds related to Cbld according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1vitamin b12459.7MMACHC, MTR
2cobalt45 2410.6MMACHC, MTR
3vitamin b6459.6PNPO, MTR
4cyanocobalamin51 24 1111.5AMN, MMACHC, MTR
5hydroxocobalamin45 1110.5AMN, MMACHC, MTR
6cobalamin45 2410.4MMACHC, MTR, CD320
7pyridoxal 5-phosphate459.3PNPO, MTR

GO Terms for genes affiliated with Cbld

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16Gene 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
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  • Antibodies

Sources for Cbld

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4CDC
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
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet