MCID: DSR002
MIFTS: 17

Disorders of Intracellular Cobalamin Metabolism

Categories: Metabolic diseases, Rare diseases

Aliases & Classifications for Disorders of Intracellular Cobalamin Metabolism

MalaCards integrated aliases for Disorders of Intracellular Cobalamin Metabolism:

Name: Disorders of Intracellular Cobalamin Metabolism 24 53 29 6

Classifications:



Summaries for Disorders of Intracellular Cobalamin Metabolism

MalaCards based summary : Disorders of Intracellular Cobalamin Metabolism is related to methylmalonic aciduria and homocystinuria type cble and methylmalonic aciduria and homocystinuria type cblg. An important gene associated with Disorders of Intracellular Cobalamin Metabolism is MMACHC (Metabolism Of Cobalamin Associated C), and among its related pathways/superpathways are Metabolism of water-soluble vitamins and cofactors and Selenium Micronutrient Network.

GeneReviews: NBK1328

Related Diseases for Disorders of Intracellular Cobalamin Metabolism

Graphical network of the top 20 diseases related to Disorders of Intracellular Cobalamin Metabolism:



Diseases related to Disorders of Intracellular Cobalamin Metabolism

Symptoms & Phenotypes for Disorders of Intracellular Cobalamin Metabolism

Drugs & Therapeutics for Disorders of Intracellular Cobalamin Metabolism

Search Clinical Trials , NIH Clinical Center for Disorders of Intracellular Cobalamin Metabolism

Genetic Tests for Disorders of Intracellular Cobalamin Metabolism

Genetic tests related to Disorders of Intracellular Cobalamin Metabolism:

# Genetic test Affiliating Genes
1 Disorders of Intracellular Cobalamin Metabolism 29 ABCD4 HCFC1 THAP11 ZNF143

Anatomical Context for Disorders of Intracellular Cobalamin Metabolism

Publications for Disorders of Intracellular Cobalamin Metabolism

Variations for Disorders of Intracellular Cobalamin Metabolism

ClinVar genetic disease variations for Disorders of Intracellular Cobalamin Metabolism:

6 (show top 50) (show all 704)
# Gene Variation Type Significance SNP ID Assembly Location
1 MMACHC NM_015506.2(MMACHC): c.271dupA (p.Arg91Lysfs) duplication Pathogenic rs398124292 GRCh38 Chromosome 1, 45507545: 45507545
2 MMACHC NM_015506.2(MMACHC): c.271dupA (p.Arg91Lysfs) duplication Pathogenic rs398124292 GRCh37 Chromosome 1, 45973217: 45973217
3 MTRR NM_002454.2(MTRR): c.66A> G (p.Ile22Met) single nucleotide variant drug response rs1801394 GRCh37 Chromosome 5, 7870973: 7870973
4 MTRR NM_002454.2(MTRR): c.66A> G (p.Ile22Met) single nucleotide variant drug response rs1801394 GRCh38 Chromosome 5, 7870860: 7870860
5 MMACHC NM_015506.2(MMACHC): c.321G> A (p.Val107=) single nucleotide variant Benign rs2275276 GRCh37 Chromosome 1, 45973928: 45973928
6 MMACHC NM_015506.2(MMACHC): c.321G> A (p.Val107=) single nucleotide variant Benign rs2275276 GRCh38 Chromosome 1, 45508256: 45508256
7 LMBRD1 NM_018368.3(LMBRD1): c.1407T> A (p.Asp469Glu) single nucleotide variant Benign rs12648 GRCh37 Chromosome 6, 70407465: 70407465
8 LMBRD1 NM_018368.3(LMBRD1): c.1407T> A (p.Asp469Glu) single nucleotide variant Benign rs12648 GRCh38 Chromosome 6, 69697573: 69697573
9 MMACHC NM_015506.2(MMACHC): c.178G> C (p.Asp60His) single nucleotide variant Benign/Likely benign rs6662272 GRCh37 Chromosome 1, 45973124: 45973124
10 MMACHC NM_015506.2(MMACHC): c.178G> C (p.Asp60His) single nucleotide variant Benign/Likely benign rs6662272 GRCh38 Chromosome 1, 45507452: 45507452
11 MMACHC NM_015506.2(MMACHC): c.738C> T (p.Pro246=) single nucleotide variant Benign/Likely benign rs16832550 GRCh37 Chromosome 1, 45974776: 45974776
12 MMACHC NM_015506.2(MMACHC): c.738C> T (p.Pro246=) single nucleotide variant Benign/Likely benign rs16832550 GRCh38 Chromosome 1, 45509104: 45509104
13 MTR NM_000254.2(MTR): c.3474G> A (p.Leu1158=) single nucleotide variant Conflicting interpretations of pathogenicity rs142113735 GRCh37 Chromosome 1, 237058726: 237058726
14 MTR NM_000254.2(MTR): c.3474G> A (p.Leu1158=) single nucleotide variant Conflicting interpretations of pathogenicity rs142113735 GRCh38 Chromosome 1, 236895426: 236895426
15 MTR NM_000254.2(MTR): c.3492C> A (p.Arg1164=) single nucleotide variant Benign rs12070777 GRCh37 Chromosome 1, 237058744: 237058744
16 MTR NM_000254.2(MTR): c.3492C> A (p.Arg1164=) single nucleotide variant Benign rs12070777 GRCh38 Chromosome 1, 236895444: 236895444
17 MTR NM_000254.2(MTR): c.3576C> T (p.Leu1192=) single nucleotide variant Benign rs1131449 GRCh37 Chromosome 1, 237058828: 237058828
18 MTR NM_000254.2(MTR): c.3576C> T (p.Leu1192=) single nucleotide variant Benign rs1131449 GRCh38 Chromosome 1, 236895528: 236895528
19 MTR NM_000254.2(MTR): c.3711+15G> T single nucleotide variant Benign rs3820571 GRCh37 Chromosome 1, 237060433: 237060433
20 MTR NM_000254.2(MTR): c.3711+15G> T single nucleotide variant Benign rs3820571 GRCh38 Chromosome 1, 236897133: 236897133
21 MTR NM_000254.2(MTR): c.3712-8T> C single nucleotide variant Benign rs12022937 GRCh38 Chromosome 1, 236897550: 236897550
22 MTR NM_000254.2(MTR): c.3712-8T> C single nucleotide variant Benign rs12022937 GRCh37 Chromosome 1, 237060850: 237060850
23 MTR NM_000254.2(MTR): c.340-6C> T single nucleotide variant Benign/Likely benign rs7526063 GRCh37 Chromosome 1, 236971998: 236971998
24 MTR NM_000254.2(MTR): c.340-6C> T single nucleotide variant Benign/Likely benign rs7526063 GRCh38 Chromosome 1, 236808698: 236808698
25 MTR NM_000254.2(MTR): c.2594+15T> C single nucleotide variant Benign rs1770449 GRCh37 Chromosome 1, 237038161: 237038161
26 MTR NM_000254.2(MTR): c.2594+15T> C single nucleotide variant Benign rs1770449 GRCh38 Chromosome 1, 236874861: 236874861
27 MTR NM_000254.2(MTR): c.2756A> G (p.Asp919Gly) single nucleotide variant Benign rs1805087 GRCh37 Chromosome 1, 237048500: 237048500
28 MTR NM_000254.2(MTR): c.2756A> G (p.Asp919Gly) single nucleotide variant Benign rs1805087 GRCh38 Chromosome 1, 236885200: 236885200
29 MTR NM_000254.2(MTR): c.3144A> G (p.Ala1048=) single nucleotide variant Benign rs2229276 GRCh37 Chromosome 1, 237054569: 237054569
30 MTR NM_000254.2(MTR): c.3144A> G (p.Ala1048=) single nucleotide variant Benign rs2229276 GRCh38 Chromosome 1, 236891269: 236891269
31 MTRR NM_002454.2(MTRR): c.1049A> G (p.Lys350Arg) single nucleotide variant Benign rs162036 GRCh38 Chromosome 5, 7885846: 7885846
32 MTRR NM_002454.2(MTRR): c.1049A> G (p.Lys350Arg) single nucleotide variant Benign rs162036 GRCh37 Chromosome 5, 7885959: 7885959
33 MTRR NM_002454.2(MTRR): c.1155G> A (p.Leu385=) single nucleotide variant Benign/Likely benign rs2287779 GRCh38 Chromosome 5, 7889103: 7889103
34 MTRR NM_002454.2(MTRR): c.1155G> A (p.Leu385=) single nucleotide variant Benign/Likely benign rs2287779 GRCh37 Chromosome 5, 7889216: 7889216
35 MTRR NM_002454.2(MTRR): c.1243C> T (p.Arg415Cys) single nucleotide variant Benign/Likely benign rs2287780 GRCh38 Chromosome 5, 7889191: 7889191
36 MTRR NM_002454.2(MTRR): c.1243C> T (p.Arg415Cys) single nucleotide variant Benign/Likely benign rs2287780 GRCh37 Chromosome 5, 7889304: 7889304
37 MTRR NM_002454.2(MTRR): c.1349C> G (p.Pro450Arg) single nucleotide variant Benign/Likely benign rs16879334 GRCh38 Chromosome 5, 7891393: 7891393
38 MTRR NM_002454.2(MTRR): c.1349C> G (p.Pro450Arg) single nucleotide variant Benign/Likely benign rs16879334 GRCh37 Chromosome 5, 7891506: 7891506
39 MTRR NM_002454.2(MTRR): c.1761T> C (p.Tyr587=) single nucleotide variant Conflicting interpretations of pathogenicity rs6874544 GRCh38 Chromosome 5, 7896948: 7896948
40 MTRR NM_002454.2(MTRR): c.1761T> C (p.Tyr587=) single nucleotide variant Conflicting interpretations of pathogenicity rs6874544 GRCh37 Chromosome 5, 7897061: 7897061
41 MTRR NM_002454.2(MTRR): c.1783C> T (p.His595Tyr) single nucleotide variant Benign rs10380 GRCh38 Chromosome 5, 7897078: 7897078
42 MTRR NM_002454.2(MTRR): c.1783C> T (p.His595Tyr) single nucleotide variant Benign rs10380 GRCh37 Chromosome 5, 7897191: 7897191
43 MTRR NM_002454.2(MTRR): c.1875G> A (p.Val625=) single nucleotide variant Benign rs12347 GRCh38 Chromosome 5, 7897170: 7897170
44 MTRR NM_002454.2(MTRR): c.1875G> A (p.Val625=) single nucleotide variant Benign rs12347 GRCh37 Chromosome 5, 7897283: 7897283
45 MTRR NM_002454.2(MTRR): c.1911G> A (p.Ala637=) single nucleotide variant Benign rs1802059 GRCh38 Chromosome 5, 7897206: 7897206
46 MTRR NM_002454.2(MTRR): c.1911G> A (p.Ala637=) single nucleotide variant Benign rs1802059 GRCh37 Chromosome 5, 7897319: 7897319
47 MTRR NM_002454.2(MTRR): c.-119T> C single nucleotide variant Benign rs72716536 GRCh38 Chromosome 5, 7869122: 7869122
48 MTRR NM_002454.2(MTRR): c.-119T> C single nucleotide variant Benign rs72716536 GRCh37 Chromosome 5, 7869235: 7869235
49 MTRR NM_002454.2(MTRR): c.524C> T (p.Ser175Leu) single nucleotide variant Benign rs1532268 GRCh38 Chromosome 5, 7878066: 7878066
50 MTRR NM_002454.2(MTRR): c.524C> T (p.Ser175Leu) single nucleotide variant Benign rs1532268 GRCh37 Chromosome 5, 7878179: 7878179

Expression for Disorders of Intracellular Cobalamin Metabolism

Search GEO for disease gene expression data for Disorders of Intracellular Cobalamin Metabolism.

Pathways for Disorders of Intracellular Cobalamin Metabolism

Pathways related to Disorders of Intracellular Cobalamin Metabolism according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.04 ABCD4 LMBRD1 MMACHC MMADHC MTR MTRR
2
Show member pathways
11.88 MTR MTRR PRDX1
3
Show member pathways
11.43 MMACHC MMADHC MTR MTRR
4 10.7 LMBRD1 MMACHC
5 10.42 ABCD4 LMBRD1 MMACHC MMADHC MTR MTRR
6
Show member pathways
9.86 MTR MTRR

GO Terms for Disorders of Intracellular Cobalamin Metabolism

Biological processes related to Disorders of Intracellular Cobalamin Metabolism according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cellular amino acid biosynthetic process GO:0008652 9.16 MTR MTRR
2 cobalamin metabolic process GO:0009235 9.1 ABCD4 LMBRD1 MMACHC MMADHC MTR MTRR
3 methionine biosynthetic process GO:0009086 8.96 MTR MTRR

Molecular functions related to Disorders of Intracellular Cobalamin Metabolism according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 FAD binding GO:0071949 8.96 MMACHC MTRR
2 cobalamin binding GO:0031419 8.8 LMBRD1 MMACHC MTR

Sources for Disorders of Intracellular Cobalamin Metabolism

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
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62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
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74 UMLS via Orphanet
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