MCID: DSR002
MIFTS: 19

Disorders of Intracellular Cobalamin Metabolism

Categories: Rare diseases, Metabolic 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 (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

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

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

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

Anatomical Context for Disorders of Intracellular Cobalamin Metabolism

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 )
1993

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

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 11.32 ABCD4 PRDX1
5 10.7 LMBRD1 MMACHC
6 10.42 ABCD4 LMBRD1 MMACHC MMADHC MTR MTRR
7
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 9.26 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

Sources for Disorders of Intracellular Cobalamin Metabolism

3 CDC
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11 DGIdb
17 ExPASy
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28 GO
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69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
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74 UMLS via Orphanet
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