MCID: MTH054
MIFTS: 42

Methylmalonic Aciduria and Homocystinuria, Cblc Type malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Metabolic diseases, Blood diseases

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 22
Methylmalonic Aciduria and Homocystinuria Type Cblc 10 12 67
Methylmalonic Acidemia with Homocystinuria, Type Cblc 45 51
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 22
 
Methylmalonic Acidemia and Homocystinuria Cblc Type 67
Methylmalonic Acidemia and Homocystinuria Cblc 45
Methylmalonic Aciduria and Homocystinuria Cblc 45
Methylmalonic Acidemia with Homocystinuria 65
Cobalamin C Deficiency 10
Cobalamin C Disease 45
Cobalamin C Defect 51
Cblc Defect 51
Mmahcc 67

Characteristics:

Orphanet epidemiological data:

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

HPO:

61
methylmalonic aciduria and homocystinuria, cblc type:
Onset and clinical course: infantile onset
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM49 277400
Disease Ontology10 DOID:0050715
Orphanet51 79282
ICD10 via Orphanet28 E72.1
MedGen34 C1848561
UMLS65 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 aciduria and homocystinuria type cblc, is related to methylmalonic acidemia with homocystinuria and myocardial infarction, and has symptoms including reduced consciousness/confusion, anorexia and megaloblastic anemia. 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 Selenium Pathway. Affiliated tissues include eye, kidney and spinal cord.

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 all 50)
idRelated DiseaseScoreTop Affiliating Genes
1methylmalonic acidemia with homocystinuria12.3
2myocardial infarction10.5
3pancreatic cancer10.5
4atherosclerosis10.5
5granuloma annulare10.5
6arrhythmogenic right ventricular cardiomyopathy10.5
7dysthymic disorder10.5
8cicatricial ectropion10.5
9ectropion10.5
10pancreatitis10.5
11mixed glioma10.5
12herpes zoster10.5
13glioma10.5
14herpes zoster ophthalmicus10.5
15meralgia paresthetica10.5
16cardiomyopathy10.5
17tetralogy of fallot10.5
18atrioventricular septal defect10.5
19thoracic outlet syndrome10.5
20neuronitis10.5
21chronic interstitial cystitis10.4
22methylmalonic aciduria and homocystinuria, cbld type10.3
23methylmalonic aciduria, vitamin b12-responsive10.3
24methylmalonic aciduria, mut(0) type10.3
25methylmalonic aciduria and homocystinuria, cblf type10.3
26methylmalonic aciduria, vitamin b12-responsive, due to defect in synthesis of adenosylcobalamin, cblb complementation type10.3
27duarte variant galactosemia10.2MMACHC, MTR
28neural tube defects, folate-sensitive10.2MTHFD1, MTR
29dementia10.1
30pneumothorax10.1
31cerebral folate receptor alpha deficiency10.1CBL, MTR
32omphalocele10.1CBS, MTHFD1
33homocystinuria due to cbs deficiency10.1CBS, MMACHC, MTR
34appendicitis10.1
35primary angle-closure glaucoma10.1CBS, MMD
36histidine metabolism disease10.1CBS, MMACHC, MTR
37lymphoma10.1
38necrobiotic xanthogranuloma10.1
39gastrointestinal anthrax10.1MTHFD1, MTR
40lymphangioma10.0MMACHC, MTR
41intracranial abscess10.0
42ocular hypertension10.0CBS, MTHFD1, MTR
43leukemia, chronic myeloid, somatic9.9CBL, MMD, MTR
44neural tube defects9.8CBS, MTHFD1, MTR
45gastric small cell carcinoma9.8CBS, MMD
46cystinosis9.8CLEC10A, CLEC2B
47periventricular leukomalacia9.8CLEC10A, CLEC2B
48mast-cell leukemia9.8CBS, MMACHC, MMD, MTR
49methemoglobinemia9.7CLEC10A, CLEC2B
50methylmalonic aciduria and homocystinuria, cblc type8.0CBL, CBS, CLEC10A, CLEC2B, FABP3, MMACHC

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

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 7)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
HydroxocobalaminapprovedPhase 222713422-51-011953898, 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 222768-19-944176380
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 2227
4AntioxidantsPhase 22442
5Vitamin B12NutraceuticalPhase 2227
6
CobalaminNutraceuticalPhase 222713408-78-16438156
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
7
MethylcobalaminNutraceuticalPhase 222613422-55-4
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

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, Kidney, Spinal cord, Breast

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
Upper ureteric transitional cell carcinoma, extending to the renal pelvis, presenting as duodenal obstruction. (26564110)
2015
2
Metastatic collecting duct carcinoma of the kidney treated with sunitinib. (21752265)
2011
3
Induction of miR-21 by retinoic acid in estrogen receptor-positive breast carcinoma cells: biological correlates and molecular targets. (21131358)
2011
4
Spontaneous carotid artery dissection in a patient with Turner syndrome. (18042980)
2007
5
Insulin resistance in polycystic ovarian disease. (16217983)
2005
6
Duodenal somatostatinoma of the ampulla of vater diagnosed by endoscopic fine needle aspiration biopsy: a case report. (11480730)
2001
7
Differential diagnosis between hepatocellular carcinoma and cirrhosis through a discriminant function based on results for serum analytes. (8697587)
1996
8
NMR constraints on the location of the retinal chromophore in rhodopsin and bathorhodopsin. (7827090)
1995
9
The reflex sympathetic dystrophy syndrome in patients who have had a spinal cord injury. (8927411)
1995
10
Bacteriological study of meningococcal meningitis. (1803001)
1991

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_024770rs546099787
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 12)
id Gene Variation Type Significance SNP ID Assembly Location
1MMACHCNM_015506.2(MMACHC): c.271dupA (p.Arg91Lysfs)duplicationLikely pathogenic, Pathogenicrs398124292GRCh38Chr 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 variantLikely pathogenic, Pathogenicrs121918243GRCh37Chr 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.271dupA (p.Arg91Lysfs)duplicationLikely pathogenic, Pathogenicrs398124292GRCh38Chr 1, 45507545: 45507545
11MMACHCNM_015506.2(MMACHC): c.609G> A (p.Trp203Ter)single nucleotide variantPathogenicrs587776889GRCh37Chr 1, 45974647: 45974647
12MMACHCMMACHC, 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 pathwaysScoreTop Affiliating Genes
19.8MMACHC, MTR
2
Show member pathways
9.8CBS, MTR
3
Show member pathways
9.4MMACHC, MTHFD1, MTR
4
Show member pathways
9.3CBS, 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:

idNameGO IDScoreTop Affiliating Genes
1cobalamin metabolic processGO:000923510.2MMACHC, MTR
2methionine biosynthetic processGO:000908610.0MTHFD1, MTR
3vitamin metabolic processGO:00067669.7MTHFD1, MTR

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