MCID: CBL004
MIFTS: 23

Cbld malady

Genetic diseases (common) category

Aliases & Classifications for Cbld

About this section

Aliases & Descriptions for Cbld:

Name: Cbld 20


Classifications:



Summaries for Cbld

About this section
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

About this section

Graphical network of diseases related to Cbld:



Diseases related to cbld

Symptoms for Cbld

About this section

Drugs & Therapeutics for Cbld

About this section

Drug clinical trials:

Search ClinicalTrials for Cbld

Search NIH Clinical Center for Cbld

Genetic Tests for Cbld

About this section

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

About this section

Animal Models for Cbld or affiliated genes

About this section

Publications for Cbld

About this section

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

About this section

Expression for genes affiliated with Cbld

About this section
Search GEO for disease gene expression data for Cbld.

Pathways for genes affiliated with Cbld

About this section

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

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

Compounds related to Cbld according to GeneCards Suite gene sharing:

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

About this section

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

Sources for Cbld

About this section
2CDC
12ExPASy
13FDA
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet