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

MCID: DSR002 MIFTS: 19	Disorders of Intracellular Cobalamin Metabolism Categories: Rare diseases, Metabolic diseases
Genes Variations Related diseases Publications Pathways Download 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 (Methylmalonic Aciduria (Cobalamin Deficiency) CblC Type, With Homocystinuria), and among its related pathways/superpathways are Metabolism of water-soluble vitamins and cofactors and Folate Metabolism. Related phenotype is Decreased shRNA abundance.

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 15)

#	Related Disease	Score	Top Affiliating Genes
1	methylmalonic aciduria and homocystinuria type cble	10.5	MTR MTRR
2	methylmalonic aciduria and homocystinuria type cblg	10.4	MTR MTRR
3	vitamin metabolic disorder	10.3	MMADHC MTR
4	organic acidemia	10.1	MMACHC MMADHC
5	amino acid metabolic disorder	10.1	MMACHC MTR
6	homocysteinemia	10.0	MMACHC MTR MTRR
7	methylmalonic aciduria and homocystinuria, cblc type	10.0	MMACHC MTR PRDX1
8	methylmalonic acidemia with homocystinuria	9.9	MMACHC MMADHC PRDX1
9	anencephaly	9.9	MTR MTRR
10	neural tube defects, folate-sensitive	9.7	FASTKD3 MTR MTRR
11	transcobalamin ii deficiency	9.7	LMBRD1 MMADHC MTR MTRR
12	methylmalonic aciduria, cblb type	9.7	LMBRD1 MMACHC MMADHC MTR
13	megaloblastic anemia	9.7	LMBRD1 MMADHC MTR MTRR
14	trehalase deficiency	9.5	LMBRD1 MMACHC MTR MTRR
15	homocystinuria	8.7	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

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

²⁶

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	Decreased shRNA abundance	GR00297-A	8.8	PRDX1 MMACHC MTR

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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

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Anatomical Context for Disorders of Intracellular Cobalamin Metabolism

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Publications for Disorders of Intracellular Cobalamin Metabolism

Articles related to Disorders of Intracellular Cobalamin Metabolism:

#	Title	Authors	Year
1	Disorders of Intracellular Cobalamin Metabolism ( 20301503 )	Pagon R.A....Stephens K.	1993

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Genes for Disorders of Intracellular Cobalamin Metabolism

Genes related to Disorders of Intracellular Cobalamin Metabolism (2 elite genes):

(show all 11)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence
1	MMACHC	Methylmalonic Aciduria (Cobalamin Deficiency) CblC Type, With Homocystinuria	Protein Coding	445.04	Pathogenic ⁶ Pathogenic/Likely pathogenic ⁶ GeneCards inferred via : Variants (show sections)
2	ABCD4	ATP Binding Cassette Subfamily D Member 4	Protein Coding	100	Genetic Tests ²⁹
3	MTR	5-Methyltetrahydrofolate-Homocysteine Methyltransferase	Protein Coding	20.56	GeneCards inferred via : Variants (show sections)
4	MTRR	5-Methyltetrahydrofolate-Homocysteine Methyltransferase Reductase	Protein Coding	20.02	GeneCards inferred via : Variants (show sections)
5	LMBRD1	LMBR1 Domain Containing 1	Protein Coding	19.66	GeneCards inferred via : Variants (show sections)
6	MMADHC	Methylmalonic Aciduria And Homocystinuria, CblD Type	Protein Coding	19.57	GeneCards inferred via : Variants (show sections)
7	PRDX1	Peroxiredoxin 1	Protein Coding	19.02	GeneCards inferred via : Variants (show sections)
8	LOC105373218	Uncharacterized LOC105373218	RNA Gene	9.48	GeneCards inferred via : Variants (show sections)
9	LOC101929231	Uncharacterized LOC101929231	RNA Gene	8.88	GeneCards inferred via : Variants (show sections)
10	FASTKD3	FAST Kinase Domains 3	Protein Coding	8.88	GeneCards inferred via : Variants (show sections)
11	CCDC163	Coiled-Coil Domain Containing 163	Protein Coding	8.78	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 654)

#	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	FASTKD3; MTRR	NM_002454.2(MTRR): c.66A> G (p.Ile22Met)	single nucleotide variant	drug response	rs1801394	GRCh37	Chromosome 5, 7870973: 7870973
4	FASTKD3; MTRR	NM_002454.2(MTRR): c.66A> G (p.Ile22Met)	single nucleotide variant	drug response	rs1801394	GRCh38	Chromosome 5, 7870860: 7870860
5	MTR	NM_000254.2(MTR): c.858C> T (p.Pro286=)	single nucleotide variant	Benign/Likely benign	rs146019467	GRCh37	Chromosome 1, 236987512: 236987512
6	MTR	NM_000254.2(MTR): c.858C> T (p.Pro286=)	single nucleotide variant	Benign/Likely benign	rs146019467	GRCh38	Chromosome 1, 236824212: 236824212
7	MTR	NM_000254.2(MTR): c.3079C> T (p.Arg1027Trp)	single nucleotide variant	Uncertain significance	rs116836001	GRCh37	Chromosome 1, 237054504: 237054504
8	MTR	NM_000254.2(MTR): c.3079C> T (p.Arg1027Trp)	single nucleotide variant	Uncertain significance	rs116836001	GRCh38	Chromosome 1, 236891204: 236891204
9	MMACHC	NM_015506.2(MMACHC): c.440G> C (p.Gly147Ala)	single nucleotide variant	Pathogenic/Likely pathogenic	rs140522266	GRCh38	Chromosome 1, 45508806: 45508806
10	MMACHC	NM_015506.2(MMACHC): c.440G> C (p.Gly147Ala)	single nucleotide variant	Pathogenic/Likely pathogenic	rs140522266	GRCh37	Chromosome 1, 45974478: 45974478
11	MMADHC	NM_015702.2(MMADHC): c.453G> A (p.Gln151=)	single nucleotide variant	Benign	rs11545261	GRCh38	Chromosome 2, 149576462: 149576462
12	MMADHC	NM_015702.2(MMADHC): c.453G> A (p.Gln151=)	single nucleotide variant	Benign	rs11545261	GRCh37	Chromosome 2, 150432976: 150432976
13	MTRR	NM_002454.2(MTRR): c.1091_1093delGTT (p.Cys364del)	deletion	Uncertain significance	rs796052001	GRCh38	Chromosome 5, 7886648: 7886650
14	MTRR	NM_002454.2(MTRR): c.1091_1093delGTT (p.Cys364del)	deletion	Uncertain significance	rs796052001	GRCh37	Chromosome 5, 7886761: 7886763
15	MTRR	NM_002454.2(MTRR): c.1653G> A (p.Pro551=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs139206262	GRCh38	Chromosome 5, 7895829: 7895829
16	MTRR	NM_002454.2(MTRR): c.1653G> A (p.Pro551=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs139206262	GRCh37	Chromosome 5, 7895942: 7895942
17	MTRR	NM_002454.2(MTRR): c.1982A> G (p.His661Arg)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs148909799	GRCh38	Chromosome 5, 7899943: 7899943
18	MTRR	NM_002454.2(MTRR): c.1982A> G (p.His661Arg)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs148909799	GRCh37	Chromosome 5, 7900056: 7900056
19	MMACHC	NM_015506.2(MMACHC): c.766_771delGCCCCC (p.Ala256_Pro257del)	deletion	Uncertain significance	rs796064513	GRCh37	Chromosome 1, 45974804: 45974809
20	MMACHC	NM_015506.2(MMACHC): c.766_771delGCCCCC (p.Ala256_Pro257del)	deletion	Uncertain significance	rs796064513	GRCh38	Chromosome 1, 45509132: 45509137
21	MMADHC	NM_015702.2(MMADHC): c.617A> G (p.Asn206Ser)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs138607412	GRCh37	Chromosome 2, 150427678: 150427678
22	MMADHC	NM_015702.2(MMADHC): c.617A> G (p.Asn206Ser)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs138607412	GRCh38	Chromosome 2, 149571164: 149571164
23	LMBRD1	NM_018368.3(LMBRD1): c.981-3dupT	duplication	Conflicting interpretations of pathogenicity	rs202207965	GRCh37	Chromosome 6, 70411440: 70411440
24	LMBRD1	NM_018368.3(LMBRD1): c.981-3dupT	duplication	Conflicting interpretations of pathogenicity	rs202207965	GRCh38	Chromosome 6, 69701548: 69701548
25	MMACHC	NM_015506.2(MMACHC): c.811A> G (p.Ser271Gly)	single nucleotide variant	Likely benign	rs35219601	GRCh38	Chromosome 1, 45509177: 45509177
26	MMACHC	NM_015506.2(MMACHC): c.811A> G (p.Ser271Gly)	single nucleotide variant	Likely benign	rs35219601	GRCh37	Chromosome 1, 45974849: 45974849
27	MMADHC	NM_015702.2(MMADHC): c.578T> C (p.Val193Ala)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs147370143	GRCh37	Chromosome 2, 150432256: 150432256
28	MMADHC	NM_015702.2(MMADHC): c.578T> C (p.Val193Ala)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs147370143	GRCh38	Chromosome 2, 149575742: 149575742
29	MTR	NM_000254.2(MTR): c.-173G> T	single nucleotide variant	Uncertain significance	rs3738548	GRCh38	Chromosome 1, 236795531: 236795531
30	MTR	NM_000254.2(MTR): c.-173G> T	single nucleotide variant	Uncertain significance	rs3738548	GRCh37	Chromosome 1, 236958831: 236958831
31	MTR	NM_000254.2(MTR): c.-111C> T	single nucleotide variant	Likely benign	rs113809927	GRCh38	Chromosome 1, 236795593: 236795593
32	MTR	NM_000254.2(MTR): c.-111C> T	single nucleotide variant	Likely benign	rs113809927	GRCh37	Chromosome 1, 236958893: 236958893
33	MTR	NM_000254.2(MTR): c.-67C> T	single nucleotide variant	Likely benign	rs3738547	GRCh38	Chromosome 1, 236795637: 236795637
34	MTR	NM_000254.2(MTR): c.-67C> T	single nucleotide variant	Likely benign	rs3738547	GRCh37	Chromosome 1, 236958937: 236958937
35	MTR	NM_000254.2(MTR): c.-6G> C	single nucleotide variant	Uncertain significance	rs183719210	GRCh38	Chromosome 1, 236795698: 236795698
36	MTR	NM_000254.2(MTR): c.-6G> C	single nucleotide variant	Uncertain significance	rs183719210	GRCh37	Chromosome 1, 236958998: 236958998
37	MTR	NM_000254.2(MTR): c.1033G> A (p.Val345Ile)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs145006491	GRCh38	Chromosome 1, 236829226: 236829226
38	MTR	NM_000254.2(MTR): c.1033G> A (p.Val345Ile)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs145006491	GRCh37	Chromosome 1, 236992526: 236992526
39	MTR	NM_000254.2(MTR): c.1437C> T (p.Asp479=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs115424814	GRCh38	Chromosome 1, 236838521: 236838521
40	MTR	NM_000254.2(MTR): c.1437C> T (p.Asp479=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs115424814	GRCh37	Chromosome 1, 237001821: 237001821
41	MTR	NM_000254.2(MTR): c.1722T> C (p.Ser574=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs142857114	GRCh37	Chromosome 1, 237015847: 237015847
42	MTR	NM_000254.2(MTR): c.1722T> C (p.Ser574=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs142857114	GRCh38	Chromosome 1, 236852547: 236852547
43	MTR	NM_000254.2(MTR): c.1942C> T (p.Arg648Cys)	single nucleotide variant	Uncertain significance	rs886046220	GRCh38	Chromosome 1, 236853077: 236853077
44	MTR	NM_000254.2(MTR): c.1942C> T (p.Arg648Cys)	single nucleotide variant	Uncertain significance	rs886046220	GRCh37	Chromosome 1, 237016377: 237016377
45	MTR	NM_000254.2(MTR): c.2245C> T (p.Pro749Ser)	single nucleotide variant	Uncertain significance	rs142250261	GRCh38	Chromosome 1, 236862284: 236862284
46	MTR	NM_000254.2(MTR): c.2245C> T (p.Pro749Ser)	single nucleotide variant	Uncertain significance	rs142250261	GRCh37	Chromosome 1, 237025584: 237025584
47	MTR	NM_000254.2(MTR): c.2405+8A> G	single nucleotide variant	Uncertain significance	rs886046221	GRCh38	Chromosome 1, 236863562: 236863562
48	MTR	NM_000254.2(MTR): c.2405+8A> G	single nucleotide variant	Uncertain significance	rs886046221	GRCh37	Chromosome 1, 237026862: 237026862
49	MTR	NM_000254.2(MTR): c.2454T> C (p.Ala818=)	single nucleotide variant	Uncertain significance	rs769066955	GRCh38	Chromosome 1, 236873821: 236873821
50	MTR	NM_000254.2(MTR): c.2454T> C (p.Ala818=)	single nucleotide variant	Uncertain significance	rs769066955	GRCh37	Chromosome 1, 237037121: 237037121

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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 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	Folate Metabolism ¹ Show member pathways Selenium Micronutrient Network ¹ 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	Peroxisome ³⁷	11.32	ABCD4 PRDX1
5	Vitamin digestion and absorption ³⁷	10.7	LMBRD1 MMACHC
6	Cobalamin (Cbl, vitamin B12) transport and metabolism ⁶⁶	10.42	ABCD4 LMBRD1 MMACHC MMADHC MTR MTRR
7	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	9.26	MTR MTRR
2	methionine biosynthetic process	GO:0009086	9.16	MTR MTRR
3	cobalamin metabolic process	GO:0009235	9.1	ABCD4 LMBRD1 MMACHC MMADHC MTR MTRR
4	sulfur amino acid metabolic process	GO:0000096	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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