MCID: MTH054
MIFTS: 44

Methylmalonic Aciduria and Homocystinuria, Cblc Type malady

Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Metabolic diseases, Blood diseases categories

Aliases & Classifications for Methylmalonic Aciduria and Homocystinuria, Cblc Type

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Aliases & Descriptions for Methylmalonic Aciduria and Homocystinuria, Cblc Type:

Name: Methylmalonic Aciduria and Homocystinuria, Cblc Type 49 11 45
Methylmalonic Acidemia with Homocystinuria, Type Cblc 45 51
Methylmalonic Aciduria and Homocystinuria Type Cblc 10 67
Methylmalonic Aciduria and Homocystinuria Cblc 45 22
Methylmalonic Acidemia and Homocystinuria Cblc 45 22
Cobalamin C Disease 45 65
Cblc 45 22
Vitamin B12 Metabolic Defect with Combined Deficiency of Methylmalonyl-Coa Mutase and Homocysteine:methyltetrahydrofolate Methyltransferase 67
 
Combined Defect in Adenosylcobalamin and Methylcobalamin Synthesis, Type Cblc 51
Methylmalonic Aciduria and Homocystinuria Vitamin B12-Responsive 67
Methylmalonic Aciduria with Homocystinuria, Type Cblc 51
Methylmalonic Acidemia and Homocystinuria Cblc Type 67
Cobalamin C Deficiency 10
Cobalamin C Defect 51
Cblc Defect 51
Mmahcc 67


Classifications:



Characteristics (Orphanet epidemiological data):

51
methylmalonic acidemia with homocystinuria, type cblc:
Inheritance: Autosomal recessive; Age of onset: All ages; Age of death: any age


External Ids:

OMIM49 277400
Disease Ontology10 DOID:0050715
Orphanet51 79282
ICD10 via Orphanet28 E72.1
MedGen34 C1848561

Summaries for Methylmalonic Aciduria and Homocystinuria, Cblc Type

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OMIM:49 Combined methylmalonic aciduria (MMA) and homocystinuria is a genetically heterogeneous disorder of cobalamin (cbl;... (277400) more...

MalaCards based summary: Methylmalonic Aciduria and Homocystinuria, Cblc Type, also known as methylmalonic acidemia with homocystinuria, type cblc, is related to homocystinuria and neuropathy, and has symptoms including hydrocephalus, microcephaly and retinopathy. An important gene associated with Methylmalonic Aciduria and Homocystinuria, Cblc Type is MMACHC (Methylmalonic Aciduria (Cobalamin Deficiency) CblC Type, With Homocystinuria), and among its related pathways are Cobalamin (Cbl, vitamin B12) transport and metabolism and Trans-sulfuration pathway. Affiliated tissues include eye.

Disease Ontology:10 A methylmalonic acidemia that has material basis in deficiency in synthesis of both adocbl and mecbl (cblc) and is characterized by decreased levels of the coenzymes adenosylcobalamin (adocbl) and methylcobalamin (mecbl), which results in decreased activity of the respective enzymes methylmalonyl-coa mutase.

NIH Rare Diseases:45 Methylmalonic academia with homocystinuria (mma+hcu) cblc is a genetic disorder that prevents the body from breaking down certain amino acids found in protein (i.e., isoleucine, valine, methionine, and threonine). as a result, homocystine, methylmalonic acid, and other harmful substances build-up in the body. treatment should begin as soon as possible. in general, treatment may involve a low-protein diet, medical formula/drink, regular meals, careful monitoring, and vitamin b12 shots. most us states now offer newborn screening for mma+hcu, allowing for early detection and treatment. however even with early treatment, most children with mma+hcu experience some symptoms affecting vision, growth, and learning. mma+hcu cblc type is caused by changes in the mmachc gene. it is inherited in an autosomal recessive fashion. last updated: 6/11/2014

UniProtKB/Swiss-Prot:67 Methylmalonic aciduria and homocystinuria type cblC: A disorder of cobalamin metabolism characterized by decreased levels of the coenzymes adenosylcobalamin (AdoCbl) and methylcobalamin (MeCbl). Affected individuals may have developmental, hematologic, neurologic, metabolic, ophthalmologic, and dermatologic clinical findings. Although considered a disease of infancy or childhood, some individuals develop symptoms in adulthood.

Related Diseases for Methylmalonic Aciduria and Homocystinuria, Cblc Type

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Diseases related to Methylmalonic Aciduria and Homocystinuria, Cblc Type via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 53)
idRelated DiseaseScoreTop Affiliating Genes
1homocystinuria11.1
2neuropathy10.6
3duarte variant galactosemia10.2MMACHC, MTR
4cc2d2a-related joubert syndrome10.2MMACHC, MTR
5hyperhomocysteinemia10.2
6neural tube defects, folate-sensitive10.2MTHFD1, MTR
7vitreous disease10.1CBL, MTR
8partial motor epilepsy10.1CBS, MTR
9homocystinuria due to cbs deficiency10.1CBS, MMACHC, MTR
10bladder trigone cancer10.1CBS, MTR
11hemolytic-uremic syndrome10.1
12methylmalonic acidemia10.1
13nephrotic syndrome10.1
14hydrops fetalis10.1
15sesame syndrome10.1
16foster-kennedy syndrome10.1
17amino acid metabolic disorder10.1
18connective tissue disease10.1
19globe disease10.1
20optic nerve disease10.1
21prion disease10.1
22retinal disease10.1
23genetic brain disorders10.1
24neurologic diseases10.1
25inborn amino acid metabolism disorder10.1
26methylmalonic acidemia with homocystinuria10.1
27homocystinuria without methylmalonic aciduria10.1
28nasopharynx carcinoma10.1CBS, MMACHC, MTR
29clivus chondroid chordoma10.1CBS, MTHFD1
30bipolar i disorder10.1CBS, MMD
31microcytic anemia10.1MMACHC, MTR
32endocardium cancer10.1ADAMTS13, CBS
33methylmalonic aciduria and homocystinuria, cbld type10.0
34methylmalonic aciduria, vitamin b12-responsive10.0
35methylmalonic aciduria, mut(0) type10.0
36methylmalonic aciduria and homocystinuria, cblf type10.0
37methylmalonic aciduria, vitamin b12-responsive, due to defect in synthesis of adenosylcobalamin, cblb complementation type10.0
38dilated cardiomyopathy10.0
39chronic interstitial cystitis10.0
40dementia10.0
41retinitis10.0
42homocysteinemia10.0
43cardiomyopathy10.0
44cblg10.0
45encephalopathy10.0
46neural tube defects10.0CBS, MTHFD1, MTR
47hemophagocytic lymphohistiocytosis10.0
48amnestic disorder10.0CBS, MTR
49leukemia, chronic myeloid, somatic10.0CBL, MMD, MTR
50mckusick type metaphyseal dysplasia9.7CLEC10A, CLEC2B, CLEC3A

Graphical network of the top 20 diseases related to Methylmalonic Aciduria and Homocystinuria, Cblc Type:



Diseases related to methylmalonic aciduria and homocystinuria, cblc type

Symptoms for Methylmalonic Aciduria and Homocystinuria, Cblc Type

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Symptoms by clinical synopsis from OMIM:

277400

Clinical features from OMIM:

277400

Symptoms:

 51 (show all 11)
  • microcephaly
  • retinopathy
  • hydrocephaly
  • seizures/epilepsy/absences/spasms/status epilepticus
  • obnubilation/coma/lethargia/desorientation
  • anorexia
  • megaloblastic anemia
  • autosomal recessive inheritance
  • failure to thrive/difficulties for feeding in infancy/growth delay
  • asthenia/fatigue/weakness
  • pallor

HPO human phenotypes related to Methylmalonic Aciduria and Homocystinuria, Cblc Type:

(show all 54)
id Description Frequency HPO Source Accession
1 hydrocephalus hallmark (90%) HP:0000238
2 microcephaly hallmark (90%) HP:0000252
3 retinopathy hallmark (90%) HP:0000488
4 pallor hallmark (90%) HP:0000980
5 seizures hallmark (90%) HP:0001250
6 megaloblastic anemia hallmark (90%) HP:0001889
7 anorexia hallmark (90%) HP:0002039
8 reduced consciousness/confusion hallmark (90%) HP:0004372
9 autosomal recessive inheritance HP:0000007
10 renal insufficiency HP:0000083
11 proteinuria HP:0000093
12 nephropathy HP:0000112
13 hydrocephalus HP:0000238
14 microcephaly HP:0000252
15 long face HP:0000276
16 smooth philtrum HP:0000319
17 high forehead HP:0000348
18 low-set ears HP:0000369
19 macrotia HP:0000400
20 visual impairment HP:0000505
21 pigmentary retinopathy HP:0000580
22 nystagmus HP:0000639
23 dementia HP:0000726
24 hematuria HP:0000790
25 intellectual disability HP:0001249
26 seizures HP:0001250
27 muscular hypotonia HP:0001252
28 lethargy HP:0001254
29 global developmental delay HP:0001263
30 confusion HP:0001289
31 tremor HP:0001337
32 failure to thrive HP:0001508
33 thrombocytopenia HP:0001873
34 neutropenia HP:0001875
35 megaloblastic anemia HP:0001889
36 thromboembolism HP:0001907
37 metabolic acidosis HP:0001942
38 abnormality of extrapyramidal motor function HP:0002071
39 cerebral cortical atrophy HP:0002120
40 homocystinuria HP:0002156
41 hyperhomocystinemia HP:0002160
42 methylmalonic acidemia HP:0002912
43 decreased adenosylcobalamin HP:0003145
44 cystathioninuria HP:0003153
45 decreased methylmalonyl-coa mutase activity HP:0003210
46 decreased methylcobalamin HP:0003223
47 cystathioninemia HP:0003286
48 decreased methionine synthase activity HP:0003524
49 infantile onset HP:0003593
50 hypomethioninemia HP:0003658
51 hemolytic-uremic syndrome HP:0005575
52 reduced visual acuity HP:0007663
53 feeding difficulties in infancy HP:0008872
54 methylmalonic aciduria HP:0012120

Drugs & Therapeutics for Methylmalonic Aciduria and Homocystinuria, Cblc Type

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Drugs for Methylmalonic Aciduria and Homocystinuria, Cblc Type (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 6)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
HydroxocobalaminapprovedPhase 221713422-51-011953898, 5460373, 44475014
Synonyms:
13422-51-0
22465-48-1
78091-12-0
8017-22-9
Acti-B12
AlphaRedisol
AlphaRedisol (TN)
Axion
Axlon
Benzimidazolyl ribofuranosyl phosphate deriv.
C08230
C62H85CoN13O15P
CHEBI:27786
CHEMBL1200742
CHEMBL235822
CID11622291
CID11953898
CID5460373
CID6433575
CID6474319
Ciplamin H
Coalpha-[alpha-(5,6-dimethylbenzimidazolyl)]-Cobeta-hydroxocobamide
Cobalex
Cobalin H
Cobinamide dihydroxide dihydrogen phosphate (ester), mono(inner salt), 3'-ester with 5,6-dimethyl-1-alpha-D-ribofuranosylbenzimidazole
Cobinamide hydroxide phosphate 3'-ester with 5,6-dimethyl-1-a-D-ribofuranosylbenzimidazole inner salt
Cobinamide hydroxide phosphate 3'-ester with 5,6-dimethyl-1-alpha-D-ribofuranosylbenzimidazole inner salt
Cobinamide hydroxide phosphate 3'-ester with 5,6-dimethyl-1-alpha-delta-ribofuranosylbenzimidazole inner salt
Cobinamide, Co-hydroxy-, dihydrogen phosphate (ester), inner salt, 3'-ester with (5,6-dimethyl-1-alpha-D-ribofuranosyl-1H-benzimidazole-kappaN3)
Cobinamide, Co-hydroxy-, f-(dihydrogen phosphate), inner salt, 3'-ester with (5,6-dimethyl-1-alpha-D-ribofuranosyl-1H-benzimidazole-kappaN3)
Cobinamide, dihydroxide, dihydrogen phosphate (ester), mono (inner salt), 3'- ester with 5,6-dimethyl-1-alpha-D-ribofuranosylbenzimidazole
Cobinamide, dihydroxide, dihydrogen phosphate (ester), mono(inner salt), 3'-ester with 5,6-dimethyl-1-alpha-D-ribofuranosyl-1H-benzimidazole
Cobinamide, hydroxide, dihydrogen phosphate (ester), inner salt, 3'-ester with 5,6-dimethyl-1-alpha-D-ribofuranosyl-1H-benzimidazole
Codroxomin
Cyanokit
Cyanokit (TN)
D01027
DB00200
Depogamma
Docclan
Docelan
Docelvita
Docevita
Droxomin
Ducobee Hy
Ducobee-Hy
Duradoce
Duralta-12
EINECS 236-533-2
HSDB 3342
HYDROXOCOBALAMIN
Hidroxocobalamina
Hidroxocobalamina [INN-Spanish]
 
Hydro Cobex
Hydrobamine
Hydrocobalamin
Hydrogrisevit
Hydrovit
Hydroxocobalamin
Hydroxocobalamin (JAN/USP/INN)
Hydroxocobalamin Vitamin B12
Hydroxocobalamin [USAN:INN:BAN:JAN]
Hydroxocobalamin acetate
Hydroxocobalamin monohydrochloride
Hydroxocobalamin(alkaline soln.), OH- replaces CN- in Cyanocobalamin)
Hydroxocobalaminacetat
Hydroxocobalamine
Hydroxocobalamine [INN-French]
Hydroxocobalaminum
Hydroxocobalaminum [INN-Latin]
Hydroxocobemine
Hydroxomin
Hydroxy Cobal
Hydroxy vitamin B12
Hydroxycob(lll)alamin
Hydroxycobalamin
Hydroxycobalamine
Hyxobamine
Idrogrisevit
Idrossocobalamina
Idrossocobalamina [DCIT]
LS-54607
Lyovit-H
Neo-Betalin 12
Neo-cytamen
Neo-macrabin
Neo-rojamin
OH-Cbl
OH-Duphar
Ohb12
Oxobemin
Oxolamine (arcum)
Primabalt RP
Redisol-H
S1668_Selleck
Sytobex-H
UNII-Q40X8H422O
Vibeden
Vitadurin
Vitamin B(sub 12a)
Vitamin B-12b
Vitamin B12a
Vitamin B12b
a-(5,6-Dimethylbenzimidazolyl)hydroxocobamide
alpha Cobione
alpha-(5,6-Dimethylbenzimidazolyl)hydroxocobamide
vitamin B-12b
2
Cyanocobalaminapproved, nutraceuticalPhase 221768-19-944176380, 44176380, 5462245
Synonyms:
Anacobin
Bedoz
Berocca PN
Berubigen
Betalin 12
Betalin 12 Crystalline
Betaline-12
Betolvex
Bevidox
Bevidox concentrate
Biocobalamine
Byladoce
Cabadon m
Cernevit-12
Cobadoce forte
Cobalin
Cobavite
Cobex
Cobolin-M
Copharvit 5000
Covit
Crystamin
Crystamine
Crysti-12
Crystimin
Crystwel
Cyano-B12
Cyanobalamin concentrate
Cyanocob(III)alamin
Cyanocobalamin
Cyanocobalamin (JP15/USP)
Cyanocobalamin Co 57 Schilling Test Kit
Cyanocobalamine
Cyanocobalmin
Cyanoject
Cycobemin
Cycolamin
Cykobemin
Cykobeminet
Cyomin
Cyredin
Cytacon
Cytamen
Cytobion
Depinar
Dicopac
Dicopac Kit
Dimethylbenzimidazoylcobamide
Distivit
Docemine
Docibin
Docivit
Dodecabee
Dodecavite
Dodex
Duodecibin
Embiol
Emociclina
Eritrone
 
Erycytol
Erythrotin
Euhaemon
Extrinsic factor
Factor II
Fermin
Fresmin
Hemomin
Hepagon
Hepavis
Hepcovite
Hylugel plus
Infuvite Pediatric
Lactobacillus lactis dorner factor
M.V.I. Pediatric
Macrabin
Megabion
Megalovel
Milbedoce
Millevit
Nagravon
Nascobal
Nascobal (TN)
Neuroforte-R
Normocytin
Novidroxin
Pernaemon
Pernaevit
Pernipuron
Plecyamin
Poyamin
Primabalt
Rebramin
Redamina
Redisol
Rhodacryst
Rubesol
Rubivite
Rubramin
Rubramin PC
Rubratope-57 Kit
Rubratope-60 Kit
Rubripca
Rubrocitol
Ruvite
Shovite
Sytobex
Vi-Twel
Vibal
Vibalt
Vibisone
Virubra
Vita-rubra
Vitabee 12
Vitamin B12
Vitamin B12 Preparation
Vitamin B12 complex
Vitaped
Vitarubin
Vitral
vitamine b12
3Vitamin B 12Phase 2224
4Vitamin B12NutraceuticalPhase 2217
5
MethylcobalaminNutraceuticalPhase 221713422-55-4
Synonyms:
Algobaz
Co-Methylcobalamin
Hitocobamin M
MeCbl
Mecobalamin
Methycobal
 
Methyl cobalamine
Methyl vitamin B12
Methyl-5,6-dimethylbenzimidazolylcobalamin
Methyl-B12
Methylcob(III)alamin
Methylcobalamin
Methylcobaz
6
CobalaminNutraceuticalPhase 221713408-78-16438156
Synonyms:
5,6-Dimethyl-1-a-D-ribofuranosyl-1H-benzimidazole
5,6-Dimethyl-1-a-D-ribofuranosylbenzimidazole
5,6-Dimethyl-1-alpha-delta-ribofuranosyl-1H-benzimidazole
5,6-Dimethyl-1-alpha-delta-ribofuranosylbenzimidazole
Cob(III)alamin
Cobalamin (III)
Cobalamine
 
Cobinamide ion(1+) dihydrogen phosphate (ester) inner salt 3'-ester
Cobinamide ion(1+) dihydrogen phosphate (ester) inner salt 3'-ester with 5,6-dimethyl-1-alpha-delta-ribofuranosyl-1H-benzimidazole
Hydroxomin
Rubivite
Rubratope-57
Rubratope-60
Ruvite
Vitamin B12

Interventional clinical trials:

idNameStatusNCT IDPhase
1EPI-743 in Cobalamin C Defect: Effects on Visual and Neurological ImpairmentActive, not recruitingNCT01793090Phase 2
2Treatment of Advanced Renal Cell Carcinoma With QuinacrineWithdrawnNCT00574483Phase 2

Search NIH Clinical Center for Methylmalonic Aciduria and Homocystinuria, Cblc Type

Genetic Tests for Methylmalonic Aciduria and Homocystinuria, Cblc Type

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Genetic tests related to Methylmalonic Aciduria and Homocystinuria, Cblc Type:

id Genetic test Affiliating Genes
1 Cblc22 MMACHC

Anatomical Context for Methylmalonic Aciduria and Homocystinuria, Cblc Type

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MalaCards organs/tissues related to Methylmalonic Aciduria and Homocystinuria, Cblc Type:

33
Eye

Animal Models for Methylmalonic Aciduria and Homocystinuria, Cblc Type or affiliated genes

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Publications for Methylmalonic Aciduria and Homocystinuria, Cblc Type

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Articles related to Methylmalonic Aciduria and Homocystinuria, Cblc Type:

idTitleAuthorsYear
1
Genetic analysis of four cases of methylmalonic aciduria and homocystinuria, cblC type(.). (26464686)
2015
2
First Chinese case of successful pregnancy with combined methylmalonic aciduria and homocystinuria, cblC type. (24974159)
2014
3
A clinical and gene analysis of late-onset combined methylmalonic aciduria and homocystinuria, cblC type, in China. (22560872)
2012
4
Combined methylmalonic aciduria and homocystinuria cblC type of a Taiwanese infant with c.609G>A and C.567dupT mutations in the MMACHC gene. (21835369)
2011
5
Newborn screening and early biochemical follow-up in combined methylmalonic aciduria and homocystinuria, cblC type, and utility of methionine as a secondary screening analyte. (19836982)
2010
6
Early onset methylmalonic aciduria and homocystinuria cblC type with demyelinating neuropathy. (20610126)
2010
7
Spectrum of MMACHC mutations in Italian and Portuguese patients with combined methylmalonic aciduria and homocystinuria, cblC type. (18164228)
2008
8
Marfanoid features in a child with combined methylmalonic aciduria and homocystinuria (CblC type). (17768669)
2007
9
DNA-based diagnosis of methylmalonic aciduria and homocystinuria, cblC type in a Chinese patient presenting with mild developmental delay. (16963011)
2007
10
Identification of the gene responsible for methylmalonic aciduria and homocystinuria, cblC type. (16311595)
2006

Variations for Methylmalonic Aciduria and Homocystinuria, Cblc Type

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UniProtKB/Swiss-Prot genetic disease variations for Methylmalonic Aciduria and Homocystinuria, Cblc Type:

67 (show all 14)
id Symbol AA change Variation ID SNP ID
1MMACHCp.Gln27ArgVAR_024770
2MMACHCp.Leu116ProVAR_024771
3MMACHCp.His122ArgVAR_024772
4MMACHCp.Tyr130HisVAR_024773
5MMACHCp.Gly147AlaVAR_024774rs140522266
6MMACHCp.Gly147AspVAR_024775
7MMACHCp.Gly156AspVAR_024776
8MMACHCp.Trp157CysVAR_024777
9MMACHCp.Arg161GlyVAR_024778
10MMACHCp.Arg161GlnVAR_024779
11MMACHCp.Arg189SerVAR_024780
12MMACHCp.Leu193ProVAR_024781
13MMACHCp.Arg206ProVAR_024782
14MMACHCp.Arg206TrpVAR_024783

Clinvar genetic disease variations for Methylmalonic Aciduria and Homocystinuria, Cblc Type:

5 (show all 11)
id Gene Variation Type Significance SNP ID Assembly Location
1MMACHCNM_015506.2(MMACHC): c.271dupA (p.Arg91Lysfs)duplicationPathogenicrs398124292GRCh38Chr 1, 45507545: 45507545
2MMACHCNM_015506.2(MMACHC): c.347T> C (p.Leu116Pro)single nucleotide variantPathogenicrs121918240GRCh37Chr 1, 45973954: 45973954
3MMACHCNM_015506.2(MMACHC): c.394C> T (p.Arg132Ter)single nucleotide variantPathogenicrs121918241GRCh37Chr 1, 45974001: 45974001
4MMACHCNM_015506.2(MMACHC): c.331C> T (p.Arg111Ter)single nucleotide variantPathogenicrs121918242GRCh37Chr 1, 45973938: 45973938
5MMACHCNM_015506.2(MMACHC): c.482G> A (p.Arg161Gln)single nucleotide variantPathogenicrs121918243GRCh37Chr 1, 45974520: 45974520
6MMACHCNM_015506.2(MMACHC): c.276G> T (p.Glu92Asp)single nucleotide variantPathogenicrs556977618GRCh37Chr 1, 45973222: 45973222
7MMACHCNM_015506.2(MMACHC): c.276G> A (p.Glu92=)single nucleotide variantPathogenicrs556977618GRCh37Chr 1, 45973222: 45973222
8MMACHCNM_015506.2(MMACHC): c.464G> A (p.Gly155Glu)single nucleotide variantPathogenicrs606231425GRCh37Chr 1, 45974502: 45974502
9MMACHCNM_015506.2(MMACHC): c.420G> A (p.Trp140Ter)single nucleotide variantPathogenicrs796051996GRCh37Chr 1, 45974027: 45974027
10MMACHCNM_015506.2(MMACHC): c.609G> A (p.Trp203Ter)single nucleotide variantPathogenicrs587776889GRCh37Chr 1, 45974647: 45974647
11MMACHCMMACHC, 3-BP DEL, 658AAGdeletionPathogenic

Expression for genes affiliated with Methylmalonic Aciduria and Homocystinuria, Cblc Type

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Search GEO for disease gene expression data for Methylmalonic Aciduria and Homocystinuria, Cblc Type.

Pathways for genes affiliated with Methylmalonic Aciduria and Homocystinuria, Cblc Type

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Pathways related to Methylmalonic Aciduria and Homocystinuria, Cblc Type according to GeneCards Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.9MMACHC, MTR
29.9CBS, MTR
3
Show member pathways
9.5MMACHC, MTHFD1, MTR
4
Show member pathways
9.5CBS, MTHFD1, MTR

GO Terms for genes affiliated with Methylmalonic Aciduria and Homocystinuria, Cblc Type

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Biological processes related to Methylmalonic Aciduria and Homocystinuria, Cblc Type according to GeneCards Suite gene sharing:

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1cobalamin metabolic processGO:000923510.4MMACHC, MTR
2methionine biosynthetic processGO:000908610.3MTHFD1, MTR
3sulfur amino acid metabolic processGO:000009610.3CBS, MTR
4transsulfurationGO:001934610.3CBS, MTHFD1
5vitamin metabolic processGO:00067669.7MMACHC, MTHFD1, MTR
6water-soluble vitamin metabolic processGO:00067679.7MMACHC, MTHFD1, MTR
7small molecule metabolic processGO:00442818.8CBS, FABP3, MMACHC, MTHFD1, MTR

Molecular functions related to Methylmalonic Aciduria and Homocystinuria, Cblc Type according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1cobalamin bindingGO:003141910.2MMACHC, MTR
2carbohydrate bindingGO:00302468.6CLEC10A, CLEC2B, CLEC3A

Sources for Methylmalonic Aciduria and Homocystinuria, Cblc Type

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet