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

MCID: DSR002 MIFTS: 30	Disorders of Intracellular Cobalamin Metabolism Categories: Metabolic diseases
Genes Variations Tissues Related diseases Publications 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 ²⁵ ²⁹ ⁶

Classifications:

MalaCards categories:
Global: 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 megaloblastic anemia and homocystinuria. 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 Folate Metabolism. Affiliated tissues include eye and spinal cord.

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 35)

#	Related Disease	Score	Top Affiliating Genes
1	megaloblastic anemia	29.7	MTRR MTR MMADHC MMACHC LMBRD1
2	homocystinuria	28.9	PRDX1 MTRR MTR MMADHC MMACHC LMBRD1
3	methylmalonic aciduria and homocystinuria type cblg	10.2	MTRR MTR
4	methylmalonic aciduria and homocystinuria type cble	10.2	MTRR MTR
5	ophthalmia neonatorum	10.2	MTRR MTR
6	methotrexate toxicity	10.2	MTRR MTR
7	urethritis	10.1	MTRR MTR
8	neural tube defects, folate-sensitive	10.1	MTRR MTR
9	glutamate formiminotransferase deficiency	10.1	MTR LMBRD1
10	west syndrome	10.1
11	microcephaly	10.1
12	hydrocephalus	10.1
13	hemolytic-uremic syndrome	10.1
14	encephalopathy	10.1
15	hypotonia	10.1
16	thrombotic microangiopathy	10.1
17	pulmonary hemosiderosis	10.1	MMADHC LMBRD1
18	gallbladder papillomatosis	10.1	LMBRD1 ABCD4
19	homocysteinemia	10.1	MTRR MTR MMACHC
20	myelomeningocele	10.0	MTRR MTR
21	gaucher disease, type ii	10.0	LMBRD1 ABCD4
22	methylmalonic acidemia without homocystinuria	10.0	MTRR MTR MMADHC
23	glutaric acidemia i	10.0	MMADHC LMBRD1
24	cleft lip/palate	10.0	MTRR MTR
25	gaucher disease, type iii	10.0	LMBRD1 ABCD4
26	propionic acidemia	10.0	MMADHC MMACHC LMBRD1
27	anencephaly	9.9	MTRR MTR
28	vitamin b12 deficiency	9.9	MTRR MTR MMACHC LMBRD1
29	organic acidemia	9.8	MTR MMADHC MMACHC LMBRD1
30	amino acid metabolic disorder	9.7	MTRR MTR MMADHC MMACHC LMBRD1
31	methylmalonic acidemia and homocysteinemia, cblx type	9.6	THAP11 MTR MMACHC HCFC1
32	methylmalonic aciduria and homocystinuria, cblc type	9.5	PRDX1 MTR MMADHC MMACHC HCFC1
33	vitamin metabolic disorder	9.4	MTRR MTR MMADHC MMACHC LMBRD1 ABCD4
34	methylmalonic acidemia	9.2	MTRR MTR MMADHC-DT MMADHC MMACHC LMBRD1
35	methylmalonic acidemia with homocystinuria	9.2	PRDX1 MMADHC-DT MMADHC MMACHC HCFC1 ABCD4

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

MalaCards organs/tissues related to Disorders of Intracellular Cobalamin Metabolism:

⁴⁰

Eye, Spinal Cord

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Publications for Disorders of Intracellular Cobalamin Metabolism

Articles related to Disorders of Intracellular Cobalamin Metabolism:

(show top 50) (show all 149)

#	Title	Authors	PMID	Year
1	Ophthalmic Manifestations and Long-Term Visual Outcomes in Patients with Cobalamin C Deficiency. ²⁵ ⁶	Brooks BP...Venditti CP	26825575	2016
2	Outcomes of four patients with homocysteine remethylation disorders detected by newborn screening. ⁶ ²⁵	Wong D...Gavrilov D	25856670	2016
3	Clinical presentation and outcome in a series of 88 patients with the cblC defect. ²⁵ ⁶	Fischer S...Dionisi-Vici C	24599607	2014
4	Combined pulmonary hypertension and renal thrombotic microangiopathy in cobalamin C deficiency. ⁶ ²⁵	Komhoff M...Berger RM	23837176	2013
5	Early onset methylmalonic aciduria and homocystinuria cblC type with demyelinating neuropathy. ⁶ ²⁵	Frattini D...Della Giustina E	20610126	2010
6	Spectrum of mutations in MMACHC, allelic expression, and evidence for genotype-phenotype correlations. ²⁵ ⁶	Lerner-Ellis JP...Fowler B	19370762	2009
7	Spectrum of MMACHC mutations in Italian and Portuguese patients with combined methylmalonic aciduria and homocystinuria, cblC type. ²⁵ ⁶	Nogueira C...Dionisi-Vici C	18164228	2008
8	Marfanoid features in a child with combined methylmalonic aciduria and homocystinuria (CblC type). ²⁵ ⁶	Heil SG...Morava E	17768669	2007
9	Late-onset combined homocystinuria and methylmalonic aciduria (cblC) and neuropsychiatric disturbance. ²⁵ ⁶	Tsai AC...Thomas JA	17853453	2007
10	Combined methylmalonic aciduria and homocystinuria (cblC): phenotype-genotype correlations and ethnic-specific observations. ⁶ ²⁵	Morel CF...Rosenblatt DS	16714133	2006
11	Identification of the gene responsible for methylmalonic aciduria and homocystinuria, cblC type. ²⁵ ⁶	Lerner-Ellis JP...Rosenblatt DS	16311595	2006
12	Hyperhomocysteinemia due to methionine synthase deficiency, cblG: structure of the MTR gene, genotype diversity, and recognition of a common mutation, P1173L. ²⁵ ⁶	Watkins D...Rosenblatt DS	12068375	2002
13	Intractable Epilepsy due to MTR Deficiency: Importance of Homocysteine Analysis. ⁶	Komulainen-Ebrahim J...Uusimaa J	28666289	2017
14	Newborn screening for homocystinurias and methylation disorders: systematic review and proposed guidelines. ⁶¹ ²⁵	Huemer M...Blom HJ	25762406	2015
15	Targeted metabolomics in the expanded newborn screening for inborn errors of metabolism. ⁶	Scolamiero E...Ruoppolo M	25689098	2015
16	Whole Exome Sequencing Identifies an Adult-Onset Case of Methylmalonic Aciduria and Homocystinuria Type C (cblC) with Non-Syndromic Bull's Eye Maculopathy. ⁶	Collison FT...Allikmets R	25687216	2015
17	[A case of late-onset cobalamin C disease (methylmalonic aciduria and homocystinuria, cobalamin C type)]. ⁶	Yamamoto M...Nakashima K	25672861	2015
18	Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families. ⁶	Alazami AM...Alkuraya FS	25558065	2015
19	Long-term visual outcome of methylmalonic aciduria and homocystinuria, cobalamin C type. ⁶	Gizicki R...Ospina LH	24126030	2014
20	The molecular landscape of propionic acidemia and methylmalonic aciduria in Latin America. ⁶	Perez B...Ugarte M	20549364	2010
21	Hydroxocobalamin dose escalation improves metabolic control in cblC. ²⁵ ⁶¹	Carrillo-Carrasco N...Venditti CP	19821145	2009
22	Defects in human methionine synthase in cblG patients. ⁶	Gulati S...Banerjee R	8968736	1996
23	Transcobalamin receptor defect: Identification of two new cases through positive newborn screening for propionic/methylmalonic aciduria and long-term outcome. ²⁵	Hannah-Shmouni F...Mercimek-Andrews S	29663633	2018
24	Publisher Correction: A PRDX1 mutant allele causes a MMACHC secondary epimutation in cblC patients. ²⁵	Gueant JL...Rosenblatt DS	29396438	2018
25	Milder clinical and biochemical phenotypes associated with the c.482G>A (p.Arg161Gln) pathogenic variant in cobalamin C disease: Implications for management and screening. ²⁵	Almannai M...Graham BH	28693988	2017
26	Mutations in THAP11 cause an inborn error of cobalamin metabolism and developmental abnormalities. ²⁵	Quintana AM...Shaikh TH	28449119	2017
27	Efficacy of early treatment in patients with cobalamin C disease identified by newborn screening: a 16-year experience. ²⁵	Ahrens-Nicklas RC...Ficicioglu C	28151490	2017
28	Clinical or ATPase domain mutations in ABCD4 disrupt the interaction between the vitamin B12-trafficking proteins ABCD4 and LMBD1. ²⁵	Fettelschoss V...Baumgartner MR	28572511	2017
29	X-Linked Cobalamin Disorder (HCFC1) Mimicking Nonketotic Hyperglycinemia With Increased Both Cerebrospinal Fluid Glycine and Methylmalonic Acid. ²⁵	Scalais E...Van Hove JLK	28363510	2017
30	Thrombotic microangiopathy caused by methionine synthase deficiency: diagnosis and treatment pitfalls. ²⁵	Vaisbich MH...Kok F	28210839	2017
31	Renal thrombotic microangiopathy in patients with cblC defect: review of an under-recognized entity. ²⁵	Beck BB...Komhoff M	27289364	2017
32	Combined methylmalonic acidemia and homocysteinemia presenting predominantly with late-onset diffuse lung disease: a case series of four patients. ²⁵	Liu J...Zhao S	28327205	2017
33	Methionine synthase and methionine synthase reductase interact with MMACHC and with MMADHC. ²⁵	Bassila C...Coelho D	27771510	2017
34	Guidelines for diagnosis and management of the cobalamin-related remethylation disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiency. ²⁵	Huemer M...Dionisi-Vici C	27905001	2017
35	Vitamin B12 Administration by Subcutaneous Catheter Device in a Cobalamin A (cblA) Patient. ²⁵	Maines E...Bordugo A	27858373	2017
36	Inborn Error of Cobalamin Metabolism Associated with the Intracellular Accumulation of Transcobalamin-Bound Cobalamin and Mutations in ZNF143, Which Codes for a Transcriptional Activator. ²⁵	Pupavac M...Rosenblatt DS	27349184	2016
37	A critical reappraisal of dietary practices in methylmalonic acidemia raises concerns about the safety of medical foods. Part 2: cobalamin C deficiency. ²⁵	Manoli I...Venditti CP	26270766	2016
38	Successful intrauterine treatment of a patient with cobalamin C defect. ²⁵	Trefz FK...Baumgartner MR	27014578	2016
39	A novel HCFC1 variant in male siblings with intellectual disability and microcephaly in the absence of cobalamin disorder. ²⁵	Koufaris C...Sismani C	26893841	2016
40	A New, Atypical Case of Cobalamin F Disorder Diagnosed by Whole Exome Sequencing. ²⁵	Deciphering Developmental Disorders Study Group...Dean J	26997947	2016
41	Structural Insights into the MMACHC-MMADHC Protein Complex Involved in Vitamin B12 Trafficking. ²⁵	Froese DS...Yue WW	26483544	2015
42	Structure of Human B12 Trafficking Protein CblD Reveals Molecular Mimicry and Identifies a New Subfamily of Nitro-FMN Reductases. ²⁵	Yamada K...Koutmos M	26364851	2015
43	Clinical onset and course, response to treatment and outcome in 24 patients with the cblE or cblG remethylation defect complemented by genetic and in vitro enzyme study data. ²⁵	Huemer M...Baumgartner MR	25526710	2015
44	HCFC1 loss-of-function mutations disrupt neuronal and neural progenitor cells of the developing brain. ²⁵	Jolly LA...Gecz J	25740848	2015
45	Ocular disease in the cobalamin C defect: a review of the literature and a suggested framework for clinical surveillance. ²⁵	Weisfeld-Adams JD...Oliver SC	25742969	2015
46	Progressive hyperpigmentation in a Taiwanese child due to an inborn error of vitamin B12 metabolism (cblJ). ²⁵	Takeichi T...McGrath JA	25234635	2015
47	First Chinese case of successful pregnancy with combined methylmalonic aciduria and homocystinuria, cblC type. ²⁵	Liu Y...Yang Y	24974159	2015
48	Multiple congenital anomalies in two boys with mutation in HCFC1 and cobalamin disorder. ²⁵	Gerard M...Benoist JF	25595573	2015
49	Diagnostic Exome Sequencing and Tailored Bioinformatics of the Parents of a Deceased Child with Cobalamin Deficiency Suggests Digenic Inheritance of the MTR and LMBRD1 Genes. ²⁵	Farwell Gonzalez KD...Chao EC	24664876	2015
50	Cobalamin C Disease Missed by Newborn Screening in a Patient with Low Carnitine Level. ²⁵	Ahrens-Nicklas RC...Ficicioglu C	25772322	2015

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Genes for Disorders of Intracellular Cobalamin Metabolism

Genes related to Disorders of Intracellular Cobalamin Metabolism (6 elite genes):

(show all 11)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	MMACHC	Metabolism Of Cobalamin Associated C	Protein Coding	445.04	Pathogenic ⁶ Likely pathogenic ⁶ GeneCards inferred via : Publications Variants (show sections)	17853453 25687216 24599607 (more) 24126030 23837176 20610126 20549364 16311595 18164228 19370762 16714133 17768669 25672861 25689098 26825575
2	MTR	5-Methyltetrahydrofolate-Homocysteine Methyltransferase	Protein Coding	421.05	Pathogenic ⁶ GeneCards inferred via : Publications Variants (show sections)	28666289 25856670 8968736 (more) 12068375 25558065
3	ABCD4	ATP Binding Cassette Subfamily D Member 4	Protein Coding	107.14	Genetic Tests ²⁹ GeneCards inferred via : Publications (show sections)
4	HCFC1	Host Cell Factor C1	Protein Coding	107.14	Genetic Tests ²⁹ GeneCards inferred via : Publications (show sections)
5	THAP11	THAP Domain Containing 11	Protein Coding	107.14	Genetic Tests ²⁹ GeneCards inferred via : Publications (show sections)
6	ZNF143	Zinc Finger Protein 143	Protein Coding	107.14	Genetic Tests ²⁹ GeneCards inferred via : Publications (show sections)
7	MTRR	5-Methyltetrahydrofolate-Homocysteine Methyltransferase Reductase	Protein Coding	20.2	GeneCards inferred via : Publications Variants (show sections)
8	MMADHC	Metabolism Of Cobalamin Associated D	Protein Coding	19.14	GeneCards inferred via : Publications Variants (show sections)
9	LMBRD1	LMBR1 Domain Containing 1	Protein Coding	17.86	GeneCards inferred via : Publications Variants (show sections)
10	MMADHC-DT	MMADHC Divergent Transcript	RNA Gene	8.38	GeneCards inferred via : Variants (show sections)
11	PRDX1	Peroxiredoxin 1	Protein Coding	7.14	GeneCards inferred via : Publications (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 513)

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	MMACHC	NM_015506.3(MMACHC):c.271dup (p.Arg91fs)	Duplication	Pathogenic	1421	rs398124292	GRCh37: 1:45973216-45973217 GRCh38: 1:45507544-45507545
2	MTR	NM_000254.3(MTR):c.3518C>T	SNV	Pathogenic	14278	rs121913578	GRCh37: 1:237058770-237058770 GRCh38: 1:236895470-236895470
3	MMACHC	NM_015506.3(MMACHC):c.440G>C (p.Gly147Ala)	SNV	Likely pathogenic	203828	rs140522266	GRCh37: 1:45974478-45974478 GRCh38: 1:45508806-45508806
4	MTRR	NM_002454.3(MTRR):c.1182C>G (p.Asp394Glu)	SNV	Uncertain significance	354361	rs149678769	GRCh37: 5:7889243-7889243 GRCh38: 5:7889130-7889130
5	MTR	NM_000254.2(MTR):c.3035A>T (p.Asp1012Val)	SNV	Uncertain significance	296575	rs201901663	GRCh37: 1:237054460-237054460 GRCh38: 1:236891160-236891160
6	MMACHC	NM_015506.3(MMACHC):c.316G>A (p.Glu106Lys)	SNV	Uncertain significance	203826	rs201617713	GRCh37: 1:45973923-45973923 GRCh38: 1:45508251-45508251
7	MMACHC	NM_015506.3(MMACHC):c.545G>A (p.Cys182Tyr)	SNV	Uncertain significance	297487	rs372010149	GRCh37: 1:45974583-45974583 GRCh38: 1:45508911-45508911
8	MTR	NM_000254.3(MTR):c.3770G>T (p.Gly1257Val)	SNV	Uncertain significance	876630		GRCh37: 1:237060916-237060916 GRCh38: 1:236897616-236897616
9	MMACHC	NM_015506.3(MMACHC):c.472T>C (p.Phe158Leu)	SNV	Uncertain significance	203830	rs201312386	GRCh37: 1:45974510-45974510 GRCh38: 1:45508838-45508838
10	MTR	NM_000254.2(MTR):c.1862A>G (p.Asp621Gly)	SNV	Uncertain significance	579433	rs61736440	GRCh37: 1:237016297-237016297 GRCh38: 1:236852997-236852997
11	MTRR	NM_002454.3(MTRR):c.208C>T (p.Arg70Cys)	SNV	Uncertain significance	354343	rs374239028	GRCh37: 5:7873564-7873564 GRCh38: 5:7873451-7873451
12	MTRR	NM_002454.3(MTRR):c.540G>A (p.Val180=)	SNV	Uncertain significance	354353	rs149037732	GRCh37: 5:7878195-7878195 GRCh38: 5:7878082-7878082
13	MTRR	NM_002454.3(MTRR):c.503C>T (p.Pro168Leu)	SNV	Uncertain significance	905354		GRCh37: 5:7878158-7878158 GRCh38: 5:7878045-7878045
14	MTRR	NM_002454.3(MTRR):c.1020C>T (p.Cys340=)	SNV	Uncertain significance	378181	rs201348649	GRCh37: 5:7885930-7885930 GRCh38: 5:7885817-7885817
15	MTRR	NM_002454.3(MTRR):c.869T>C (p.Ile290Thr)	SNV	Uncertain significance	354357	rs144899305	GRCh37: 5:7883356-7883356 GRCh38: 5:7883243-7883243
16	MMACHC	NM_015506.3(MMACHC):c.766_771del (p.Ala256_Pro257del)	Deletion	Uncertain significance	208197	rs796064513	GRCh37: 1:45974801-45974806 GRCh38: 1:45509129-45509134
17	MTRR	NM_002454.3(MTRR):c.1091_1093del (p.Cys364del)	Deletion	Uncertain significance	203842	rs796052001	GRCh37: 5:7886760-7886762 GRCh38: 5:7886647-7886649
18	MTRR	NM_002454.3(MTRR):c.246G>C (p.Pro82=)	SNV	Uncertain significance	706109	rs149300444	GRCh37: 5:7873602-7873602 GRCh38: 5:7873489-7873489
19	MTRR	NM_002454.3(MTRR):c.27T>C (p.Ala9=)	SNV	Uncertain significance	764651	rs114748706	GRCh37: 5:7870934-7870934 GRCh38: 5:7870821-7870821
20	MTRR	NM_002454.3(MTRR):c.1021G>A (p.Val341Ile)	SNV	Uncertain significance	578634	rs74790259	GRCh37: 5:7885931-7885931 GRCh38: 5:7885818-7885818
21	MMACHC	NM_015506.3(MMACHC):c.*5C>G	SNV	Uncertain significance	297490	rs557994288	GRCh37: 1:45974892-45974892 GRCh38: 1:45509220-45509220
22	MMACHC	NM_015506.3(MMACHC):c.*1701T>A	SNV	Uncertain significance	297530	rs886046384	GRCh37: 1:45976588-45976588 GRCh38: 1:45510916-45510916
23	MMACHC	NM_015506.2(MMACHC):c.-94A>G	SNV	Uncertain significance	297477	rs556541742	GRCh37: 1:45965911-45965911 GRCh38: 1:45500239-45500239
24	MMADHC	NM_015702.3(MMADHC):c.244T>G (p.Cys82Gly)	SNV	Uncertain significance	331382	rs760590651	GRCh37: 2:150436073-150436073 GRCh38: 2:149579559-149579559
25	MMACHC	NM_015506.3(MMACHC):c.*200A>T	SNV	Uncertain significance	297496	rs886046370	GRCh37: 1:45975087-45975087 GRCh38: 1:45509415-45509415
26	MMACHC	NM_015506.3(MMACHC):c.334C>T (p.Arg112Cys)	SNV	Uncertain significance	297483	rs187869948	GRCh37: 1:45973941-45973941 GRCh38: 1:45508269-45508269
27	MMACHC	NM_015506.3(MMACHC):c.1154_1155CT[1]	Microsatellite	Uncertain significance	297519	rs886046380	GRCh37: 1:45976041-45976044 GRCh38: 1:45510369-45510372
28	MMADHC-DT , MMADHC	NM_015702.3(MMADHC):c.-62G>A	SNV	Uncertain significance	331389	rs886054924	GRCh37: 2:150444187-150444187 GRCh38: 2:149587673-149587673
29	MMACHC	NM_015506.3(MMACHC):c.*860del	Deletion	Uncertain significance	297513	rs886046377	GRCh37: 1:45975747-45975747 GRCh38: 1:45510075-45510075
30	MMACHC	NM_015506.3(MMACHC):c.538_540GTT[1]	Microsatellite	Uncertain significance	297507	rs886046374	GRCh37: 1:45975424-45975426 GRCh38: 1:45509752-45509754
31	MTR	NM_000254.2(MTR):c.2686C>T (p.Leu896=)	SNV	Uncertain significance	296572	rs147762307	GRCh37: 1:237048430-237048430 GRCh38: 1:236885130-236885130
32	MMACHC	NM_015506.3(MMACHC):c.*740T>C	SNV	Uncertain significance	297510	rs886046376	GRCh37: 1:45975627-45975627 GRCh38: 1:45509955-45509955
33	MMACHC	NM_015506.3(MMACHC):c.*84G>T	SNV	Uncertain significance	297493	rs553866522	GRCh37: 1:45974971-45974971 GRCh38: 1:45509299-45509299
34	MMACHC	NM_015506.3(MMACHC):c.*1000A>G	SNV	Uncertain significance	297516	rs886046378	GRCh37: 1:45975887-45975887 GRCh38: 1:45510215-45510215
35	MMACHC	NM_015506.3(MMACHC):c.217_218insTTTTA	Insertion	Uncertain significance	297499	rs1553163069	GRCh37: 1:45975104-45975105 GRCh38: 1:45509432-45509433
36	MMACHC	NM_015506.3(MMACHC):c.1646_1647del	Deletion	Uncertain significance	297528	rs886046383	GRCh37: 1:45976533-45976534 GRCh38: 1:45510861-45510862
37	MMADHC	NM_015702.3(MMADHC):c.254A>G (p.Asn85Ser)	SNV	Uncertain significance	331381	rs767542742	GRCh37: 2:150436063-150436063 GRCh38: 2:149579549-149579549
38	MTR	NM_000254.2(MTR):c.866-10C>G	SNV	Uncertain significance	296554	rs368755647	GRCh37: 1:236988628-236988628 GRCh38: 1:236825328-236825328
39	MMACHC	NM_015506.3(MMACHC):c.241C>T (p.Gln81Ter)	SNV	Uncertain significance	297480	rs373246922	GRCh37: 1:45973187-45973187 GRCh38: 1:45507515-45507515
40	MMACHC	NM_015506.3(MMACHC):c.-25G>A	SNV	Uncertain significance	297478	rs750522696	GRCh37: 1:45965980-45965980 GRCh38: 1:45500308-45500308
41	MMACHC	NM_015506.3(MMACHC):c.*962C>T	SNV	Uncertain significance	297514	rs181264318	GRCh37: 1:45975849-45975849 GRCh38: 1:45510177-45510177
42	MMACHC	NM_015506.3(MMACHC):c.*1101G>C	SNV	Uncertain significance	297517	rs886046379	GRCh37: 1:45975988-45975988 GRCh38: 1:45510316-45510316
43	MMACHC	NM_015506.3(MMACHC):c.*11T>C	SNV	Uncertain significance	297491	rs886046369	GRCh37: 1:45974898-45974898 GRCh38: 1:45509226-45509226
44	MMACHC	NM_015506.3(MMACHC):c.*169G>A	SNV	Uncertain significance	297494	rs566121791	GRCh37: 1:45975056-45975056 GRCh38: 1:45509384-45509384
45	MMADHC	NM_015702.3(MMADHC):c.*241A>G	SNV	Uncertain significance	331371	rs528409808	GRCh37: 2:150426247-150426247 GRCh38: 2:149569733-149569733
46	MMACHC	NM_015506.3(MMACHC):c.*345C>G	SNV	Uncertain significance	297504	rs886046373	GRCh37: 1:45975232-45975232 GRCh38: 1:45509560-45509560
47	MMACHC	NM_015506.3(MMACHC):c.*1239G>T	SNV	Uncertain significance	297521	rs886046381	GRCh37: 1:45976126-45976126 GRCh38: 1:45510454-45510454
48	MMACHC	NM_015506.3(MMACHC):c.*677A>G	SNV	Uncertain significance	297508	rs886046375	GRCh37: 1:45975564-45975564 GRCh38: 1:45509892-45509892
49	MMACHC	NM_015506.3(MMACHC):c.691T>C (p.Leu231=)	SNV	Uncertain significance	297488	rs373198842	GRCh37: 1:45974729-45974729 GRCh38: 1:45509057-45509057
50	MMACHC	NM_015506.3(MMACHC):c.*818C>T	SNV	Uncertain significance	297511	rs540427267	GRCh37: 1:45975705-45975705 GRCh38: 1:45510033-45510033

Sources

Expression for Disorders of Intracellular Cobalamin Metabolism

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

Sources

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 ⁶⁵ Show member pathways [2Fe-2S] iron-sulfur cluster biosynthesis ¹ Biotin transport and metabolism ⁶⁵ biotin-carboxyl carrier protein assembly ¹ coenzyme A biosynthesis ¹ Coenzyme A biosynthesis ⁶⁵ flavin biosynthesis ¹ folate polyglutamylation ¹ Metabolism of folate and pterines ⁶⁵ Metabolism of vitamins and cofactors ⁶⁵ molybdenum cofactor biosynthesis ¹ Molybdenum cofactor biosynthesis ⁶⁵ thiamin salvage III ¹ thio-molybdenum cofactor biosynthesis ¹ Vitamin B1 (thiamin) metabolism ⁶⁵ Vitamin B2 (riboflavin) metabolism ⁶⁵ Vitamin B5 (pantothenate) metabolism ⁶⁵ Vitamin C (ascorbate) metabolism ⁶⁵ Vitamins B6 activation to pyridoxal phosphate ⁶⁵	12.04	MTRR MTR MMADHC MMACHC LMBRD1 ABCD4
2	Folate Metabolism ¹ Show member pathways Selenium Micronutrient Network ¹ thioredoxin pathway ¹ Vitamin B12 Metabolism ¹	11.88	PRDX1 MTRR MTR
3	Diseases of metabolism ⁶⁵ Show member pathways Defective ACTH causes Obesity and Pro-opiomelanocortinin deficiency (POMCD) ⁶⁵ Defective CD320 causes methylmalonic aciduria ⁶⁵ Defective CYP11A1 causes Adrenal insufficiency, congenital, with 46,XY sex reversal (AICSR) ⁶⁵ Defective MMACHC causes methylmalonic aciduria and homocystinuria type cblC ⁶⁵ Defective MMADHC causes methylmalonic aciduria and homocystinuria type cblD ⁶⁵ Defective TCN2 causes hereditary megaloblastic anemia ⁶⁵ Defects in cobalamin (B12) metabolism ⁶⁵ Defects in vitamin and cofactor metabolism ⁶⁵ Electron transport from NADPH to Ferredoxin ⁶⁵ Metabolic disorders of biological oxidation enzymes ⁶⁵	11.43	MTRR MTR MMADHC MMACHC
4	Vitamin digestion and absorption ³⁶	10.7	MMACHC LMBRD1
5	Cobalamin (Cbl, vitamin B12) transport and metabolism ⁶⁵	10.42	MTRR MTR MMADHC MMACHC LMBRD1 ABCD4
6	Defective MTRR causes methylmalonic aciduria and homocystinuria type cblE ⁶⁵ Show member pathways Defective MTR causes methylmalonic aciduria and homocystinuria type cblG ⁶⁵	9.86	MTRR MTR

Sources

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	MTRR MTR
2	methionine biosynthetic process	GO:0009086	9.16	MTRR MTR
3	cobalamin metabolic process	GO:0009235	9.1	MTRR MTR MMADHC MMACHC LMBRD1 ABCD4
4	sulfur amino acid metabolic process	GO:0000096	8.96	MTRR MTR

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	MTRR MMACHC
2	cobalamin binding	GO:0031419	8.8	MTR MMACHC LMBRD1

Sources

Sources for Disorders of Intracellular Cobalamin Metabolism

¹ BioSystems

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⁵⁷ OMIM® (Updated 05-Apr-2021)

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⁷¹ UMLS via Orphanet

⁷² UniProtKB/Swiss-Prot

⁷³ Wikipedia