Disorders of Intracellular Cobalamin Metabolism disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: DSR002 MIFTS: 17	Disorders of Intracellular Cobalamin Metabolism Categories: Metabolic diseases, Rare diseases
Genes Variations Related diseases Pathways Expand all tables

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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:

MalaCards categories:
Global: Rare diseases Metabolic diseases

See all MalaCards categories (disease lists)

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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

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Related Diseases for Disorders of Intracellular Cobalamin Metabolism

Diseases related to Disorders of Intracellular Cobalamin Metabolism via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 13)

#	Related Disease	Score	Top Affiliating Genes
1	methylmalonic aciduria and homocystinuria type cble	10.1	MTR MTRR
2	methylmalonic aciduria and homocystinuria type cblg	10.1	MTR MTRR
3	vitamin metabolic disorder	10.1	LMBRD1 MMADHC MTR
4	methylmalonic acidemia with homocystinuria	10.1	MMACHC MMADHC PRDX1
5	organic acidemia	10.0	MMACHC MMADHC
6	methylmalonic aciduria and homocystinuria, cblc type	10.0	MMACHC MTR PRDX1
7	neural tube defects, folate-sensitive	10.0	FASTKD3 MTR MTRR
8	homocysteinemia	10.0	MMACHC MTR MTRR
9	amino acid metabolic disorder	10.0	MMACHC MTR
10	transcobalamin ii deficiency	10.0	LMBRD1 MMADHC MTR MTRR
11	methylmalonic aciduria due to methylmalonyl-coa mutase deficiency	10.0	LMBRD1 MMACHC MMADHC MTR
12	megaloblastic anemia	10.0	LMBRD1 MMADHC MTR MTRR
13	homocystinuria	9.7	ABCD4 LMBRD1 MMACHC MMADHC MTR MTRR

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

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Symptoms & Phenotypes for Disorders of Intracellular Cobalamin Metabolism

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Drugs & Therapeutics for Disorders of Intracellular Cobalamin Metabolism

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

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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

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Anatomical Context for Disorders of Intracellular Cobalamin Metabolism

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Publications for Disorders of Intracellular Cobalamin Metabolism

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Genes for Disorders of Intracellular Cobalamin Metabolism

Genes related to Disorders of Intracellular Cobalamin Metabolism (5 elite genes):

(show all 14)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	MMACHC	Metabolism Of Cobalamin Associated C	Protein Coding	419.96	Pathogenic ⁶ GeneCards inferred via : Variants (show sections)	20301503
2	ABCD4	ATP Binding Cassette Subfamily D Member 4	Protein Coding	100	Genetic Tests ²⁹
3	HCFC1	Host Cell Factor C1	Protein Coding	100	Genetic Tests ²⁹
4	THAP11	THAP Domain Containing 11	Protein Coding	100	Genetic Tests ²⁹
5	ZNF143	Zinc Finger Protein 143	Protein Coding	100	Genetic Tests ²⁹
6	MTRR	5-Methyltetrahydrofolate-Homocysteine Methyltransferase Reductase	Protein Coding	44.93	Drug response ⁶ GeneCards inferred via : Variants (show sections)	20301503
7	MTR	5-Methyltetrahydrofolate-Homocysteine Methyltransferase	Protein Coding	20.47	GeneCards inferred via : Variants (show sections)
8	LMBRD1	LMBR1 Domain Containing 1	Protein Coding	19.57	GeneCards inferred via : Variants (show sections)
9	MMADHC	Metabolism Of Cobalamin Associated D	Protein Coding	19.48	GeneCards inferred via : Variants (show sections)
10	PRDX1	Peroxiredoxin 1	Protein Coding	18.93	GeneCards inferred via : Variants (show sections)
11	LOC105373218	Uncharacterized LOC105373218	RNA Gene	9.39	GeneCards inferred via : Variants (show sections)
12	FASTKD3	FAST Kinase Domains 3	Protein Coding	8.79	GeneCards inferred via : Variants (show sections)
13	LOC101929231	Uncharacterized LOC101929231	RNA Gene	8.79	GeneCards inferred via : Variants (show sections)
14	CCDC163	Coiled-Coil Domain Containing 163	Protein Coding	8.7	GeneCards inferred via : Variants (show sections)

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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

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Expression for Disorders of Intracellular Cobalamin Metabolism

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

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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	Metabolism of water-soluble vitamins and cofactors ⁶⁶ Show member pathways [2Fe-2S] iron-sulfur cluster biosynthesis ¹ Biotin transport and metabolism ⁶⁶ biotin-carboxyl carrier protein assembly ¹ coenzyme A biosynthesis ¹ Coenzyme A biosynthesis ⁶⁶ flavin biosynthesis ¹ folate polyglutamylation ¹ glycine/serine biosynthesis ¹ Metabolism of folate and pterines ⁶⁶ Metabolism of vitamins and cofactors ⁶⁶ molybdenum cofactor biosynthesis ¹ Molybdenum cofactor biosynthesis ⁶⁶ thiamin salvage III ¹ thio-molybdenum cofactor biosynthesis ¹ Vitamin B1 (thiamin) metabolism ⁶⁶ Vitamin B2 (riboflavin) metabolism ⁶⁶ Vitamin B5 (pantothenate) metabolism ⁶⁶ Vitamin C (ascorbate) metabolism ⁶⁶ Vitamins B6 activation to pyridoxal phosphate ⁶⁶	12.04	ABCD4 LMBRD1 MMACHC MMADHC MTR MTRR
2	Selenium Micronutrient Network ¹ Show member pathways Folate Metabolism ¹ Metabolism of ingested MeSeO2H into MeSeH ⁶⁶ thioredoxin pathway ¹ Vitamin B12 Metabolism ¹	11.88	MTR MTRR PRDX1
3	Diseases of metabolism ⁶⁶ Show member pathways Defective ACTH causes Obesity and Pro-opiomelanocortinin deficiency (POMCD) ⁶⁶ Defective CD320 causes methylmalonic aciduria ⁶⁶ Defective CYP11A1 causes Adrenal insufficiency, congenital, with 46,XY sex reversal (AICSR) ⁶⁶ Defective MMACHC causes methylmalonic aciduria and homocystinuria type cblC ⁶⁶ Defective MMADHC causes methylmalonic aciduria and homocystinuria type cblD ⁶⁶ Defective TCN2 causes hereditary megaloblastic anemia ⁶⁶ Defects in cobalamin (B12) metabolism ⁶⁶ Defects in vitamin and cofactor metabolism ⁶⁶ Electron transport from NADPH to Ferredoxin ⁶⁶ Metabolic disorders of biological oxidation enzymes ⁶⁶	11.43	MMACHC MMADHC MTR MTRR
4	Vitamin digestion and absorption ³⁷	10.7	LMBRD1 MMACHC
5	Cobalamin (Cbl, vitamin B12) transport and metabolism ⁶⁶	10.42	ABCD4 LMBRD1 MMACHC MMADHC MTR MTRR
6	Defective MTR causes methylmalonic aciduria and homocystinuria type cblG ⁶⁶ Show member pathways Defective MTRR causes methylmalonic aciduria and homocystinuria type cblE ⁶⁶	9.86	MTR MTRR

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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

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