MCID: CBL004
MIFTS: 23

Cbld malady

Genetic diseases (common) category

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)


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.

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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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 Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
thioredoxin pathway36
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)36
molybdenum cofactor biosynthesis36
coenzyme A biosynthesis36
thiamin salvage III36
alanine biosynthesis III36
thio-molybdenum cofactor biosynthesis36
biotin-carboxyl carrier protein assembly36
7.1SLC52A3, PNPO, AMN, NAPRT1, MMADHC, MMACHC

Compounds for genes affiliated with Cbld

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Sources:
43Novoseek, 24HMDB, 49PharmGKB, 12DrugBank
See all sources

Compounds related to Cbld according to GeneCards Suite gene sharing:

idCompoundScoreTop Affiliating Genes
1vitamin b12439.7MMACHC, MTR
2cobalt43 2410.6MMACHC, MTR
3vitamin b6439.6PNPO, MTR
4cyanocobalamin49 24 1211.5AMN, MMACHC, MTR
5hydroxocobalamin43 1210.5AMN, MMACHC, MTR
6cobalamin43 2410.4MMACHC, MTR, CD320
7pyridoxal 5-phosphate439.3PNPO, MTR

GO Terms for genes affiliated with Cbld

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Cellular components related to Cbld according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1cytosolGO:00058298.5MTR, MMACHC, MMADHC, NAPRT1, PNPO

Biological processes related to Cbld according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1cobalamin metabolic processGO:00092358.4AMN, MMADHC, MMACHC, MTR, CD320
2vitamin metabolic processGO:00067667.1SLC52A3, PNPO, AMN, NAPRT1, MMADHC, MMACHC
3small molecule metabolic processGO:00442817.1AMN, NAPRT1, MMADHC, MMACHC, MTR, CD320
4water-soluble vitamin metabolic processGO:00067677.0PNPO, AMN, NAPRT1, MMADHC, MMACHC, MTR

Molecular functions related to Cbld according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1cobalamin bindingGO:00314199.4CD320, MTR, MMACHC

Products for genes affiliated with Cbld

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Cbld

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet