CBLD
MCID: CBL004
MIFTS: 28

Cbld (CBLD) malady

Genetic diseases (common) category
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Summaries for Cbld

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MalaCards based summary: Cbld is related to homocystinuria and methylmalonic acidemia. 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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Cbld, Aliases & Descriptions:

Name: Cbld 20


Classifications:

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


Related Diseases for Cbld

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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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Drug clinical trials:

Search ClinicalTrials for Cbld

Search NIH Clinical Center for Cbld

Genetic Tests for Cbld

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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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Articles related to Cbld:

idTitleAuthorsYear
1
Characterization of functional domains of the cblD (MMADHC) gene product. (24722857)
2014
2
Clinical, Biochemical, and Molecular Presentation in a Patient with the cblD-Homocystinuria Inborn Error of Cobalamin Metabolism. (25155779)
2014
3
Severe Neonatal Metabolic Decompensation in Methylmalonic Acidemia Caused by CblD Defect. (23686626)
2013
4
The C-terminal domain of CblD interacts with CblC and influences intracellular cobalamin partitioning. (23415655)
2013
5
Molecular mechanisms leading to three different phenotypes in the cblD defect of intracellular cobalamin metabolism. (22156578)
2012
6
Clinical and molecular heterogeneity in patients with the cblD inborn error of cobalamin metabolism. (19058814)
2009
7
Gene identification for the cblD defect of vitamin B12 metabolism. (18385497)
2008
8
The cblD defect causes either isolated or combined deficiency of methylcobalamin and adenosylcobalamin synthesis. (15292234)
2004
9
Prenatal diagnosis of combined methylmalonic aciduria and homocystinuria (cobalamin CblC or CblD mutant) (7916155)
1994
10
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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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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Pathways related to Cbld according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
thioredoxin pathway37
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)37
molybdenum cofactor biosynthesis37
coenzyme A biosynthesis37
thiamin salvage III37
alanine biosynthesis III37
thio-molybdenum cofactor biosynthesis37
biotin-carboxyl carrier protein assembly37
7.1SLC52A3, PNPO, AMN, NAPRT1, MMADHC, MMACHC

Compounds for genes affiliated with Cbld

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Sources:
44Novoseek, 24HMDB, 11DrugBank, 50PharmGKB
See all sources

Compounds related to Cbld according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1vitamin b12449.7MTR, MMACHC
2cobalt44 2410.6MTR, MMACHC
3vitamin b6449.6MTR, PNPO
4hydroxocobalamin44 1110.5MTR, MMACHC, AMN
5cyanocobalamin50 24 1111.5MTR, MMACHC, AMN
6cobalamin44 2410.4MMACHC, MTR, CD320
7pyridoxal 5-phosphate449.3MTR, PNPO

GO Terms for genes affiliated with Cbld

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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

Sources for Cbld

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet