MCID: MTH054
MIFTS: 46

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 50 46 23 12
Methylmalonic Aciduria and Homocystinuria Type Cblc 11 13 68
Methylmalonic Acidemia with Homocystinuria, Type Cblc 46 52
Cblc 46 23
Vitamin B12 Metabolic Defect with Combined Deficiency of Methylmalonyl-Coa Mutase and Homocysteine:methyltetrahydrofolate Methyltransferase 68
Combined Defect in Adenosylcobalamin and Methylcobalamin Synthesis, Type Cblc 52
Methylmalonic Aciduria and Homocystinuria Vitamin B12-Responsive 68
Methylmalonic Aciduria with Homocystinuria, Type Cblc 52
Methylmalonic Acidemia and Homocystinuria, Cblc Type 23
 
Methylmalonic Acidemia and Homocystinuria Cblc Type 68
Methylmalonic Aciduria and Homocystinuria Cblc 46
Methylmalonic Acidemia and Homocystinuria Cblc 46
Methylmalonic Acidemia with Homocystinuria 66
Cobalamin C Deficiency 11
Cobalamin C Disease 46
Cobalamin C Defect 52
Cblc Defect 52
Mmahcc 68

Characteristics:

Orphanet epidemiological data:

52
methylmalonic acidemia with homocystinuria, type cblc:
Inheritance: Autosomal recessive; Age of onset: All ages; Age of death: any age

HPO:

62
methylmalonic aciduria and homocystinuria, cblc type:
Inheritance: autosomal recessive inheritance
Onset and clinical course: infantile onset


Classifications:



External Ids:

OMIM50 277400
Disease Ontology11 DOID:0050715
Orphanet52 ORPHA79282
ICD10 via Orphanet29 E72.1
MedGen35 C1848561

Summaries for Methylmalonic Aciduria and Homocystinuria, Cblc Type

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OMIM:50 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 homocystinuria, 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 Diseases of metabolism and Cobalamin (Cbl, vitamin B12) transport and metabolism. Affiliated tissues include bone, eye and bone marrow.

Disease Ontology:11 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:46 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:68 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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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:

 52 (show all 10)
  • hydrocephalus
  • microcephaly
  • retinopathy
  • pallor
  • seizures
  • lethargy
  • failure to thrive
  • megaloblastic bone marrow
  • anorexia
  • fatigue

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

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

UMLS symptoms related to Methylmalonic Aciduria and Homocystinuria, Cblc Type:


lethargy, seizures

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 8)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1UbiquinonePhase 2132
2
HydroxocobalaminPhase 223613422-51-011953898, 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 anhydrous
Hydroxocobalamin monohydrochloride
Hydroxocobalamin(alkaline soln.), OH- replaces CN- in Cyanocobalamin)
Hydroxocobalaminacetat
Hydroxocobalamine
Hydroxocobalamine [INN-French]
Hydroxocobalaminum
Hydroxocobalaminum [INN-Latin]
Hydroxocobalaminum anhydrous
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
3
MethylcobalaminNutraceuticalPhase 223713422-55-4
Synonyms:
Algobaz
Co-Methylcobalamin
Co-methylcobalamin
Hitocobamin M
MeCbl
Mecobalamin
Methycobal
 
Methyl cobalamine
Methyl vitamin B12
Methyl-5,6-dimethylbenzimidazolylcobalamin
Methyl-B12
Methylcob(III)alamin
Methylcobalamin
Methylcobaz
mecobalamin
methyl(III)cobalamin
4Vitamin B12NutraceuticalPhase 2237
5
Folic AcidNutraceuticalPhase 2414359-30-36037
Synonyms:
(2S)-2-[[4-[(2-amino-4-oxo-1H-pteridin-6-yl)methylamino]benzoyl]amino]pentanedioic acid
01769_FLUKA
2d0k
33609-88-0
36653-55-1 (mono-potassium salt)
59-30-3
6484-89-5 (mono-hydrochloride salt)
AC-11682
AC1L1LNX
AI3-26387
AKOS000503224
ARONIS014410
Acfol (Spain)
Acide folique
Acide folique [INN-French]
Acido folico
Acido folico [INN-Spanish]
Acidum folicum
Acidum folicum [INN-Latin]
Acifolic
Antianemia factor
Apo-Folic
BIDD:ER0563
BIDD:GT0641
BIF0608
BPBio1_000654
BSPBio_000594
BSPBio_002338
C00504
C20H20N6O6
CAS-59-30-3
CCRIS 666
CHEBI:27470
CHEMBL1622
CID6037
CPD000471860
Cytofol
D00070
DB00158
DivK1c_000494
Dosfolat B activ
EINECS 200-419-0
F0043
F7876_SIAL
F7876_SIGMA
F8758_SIGMA
F8798_SIAL
F8890_SIGMA
FOL
Facid
Factor U
Folacid
Folacin
Folaemin
Folaemin [Netherlands]
Folan
Folasic (Australia)
Folate
Folbal
Folcidin
Folcidin (VAN)
Folcysteine
Foldine
Foldine [France]
Folettes
Foliamin
Folic
Folic acid
Folic acid (JP15/USP/INN)
Folic acid (TN)
Folic acid [BAN:INN:JAN]
Folic acid [INN:BAN:JAN]
Folic acid dihydrate
Folicet
Folicet (TN)
Folico
Folico (Italy)
Folina
Folina (Italy)
Folipac
Folsaeure
 
Folsan
Folsaure
Folsav
Folvite
Folvron
Glutamic acid, N-(p-(((2-amino-4-hydroxypyrimido(4,5-b)pyrazin-6-yl)methyl)amino)benzoyl)-, L
HMS1921D20
HMS2092N17
HMS501I16
HSDB 2002
IDI1_000494
InChI=1/C19H19N7O6/c20-19-25-15-14(17(30)26-19)23-11(8-22-15)7-21-10-3-1-9(2-4-10)16(29)24-12(18(31)32)5-6-13(27)28/h1-4,8,12,21H,5-7H2,(H,24,29)(H,27,28)(H,31,32)(H3,20,22,25,26,30)/t12-/m0/s
Incafolic
KBio1_000494
KBio2_001861
KBio2_004429
KBio2_006997
KBio3_001558
KBioGR_002222
KBioSS_001861
Kyselina listova
Kyselina listova [Czech]
LS-2157
Liver Lactobacillus casei factor
MLS001304016
MLS001335861
Millafol
Mission prenatal
Mittafol
MolPort-004-285-551
N-(4-(((2-Amino-1,4-dihydro-4-oxo-6-pteridinyl)methyl)amino)benzo- yl)-L-glutamic acid
N-(4-((2-Amino-1,4-dihydro-4-oxo-6-pteridinyl)methyl)amino)benzoyl)-L-glutamic acid
N-(4-{[(2-Amino-4-oxo-3,4-dihydropteridin-6-yl)methyl]amino}benzoyl)-L-glutamic acid
N-(4-{[(2-amino-4-oxo-1,4-dihydropteridin-6-yl)methyl]amino}benzoyl)-L-glutamic acid
N-(p-(((2-Amino-4-hydroxy-6-pteridinyl)methyl)amino)benzoyl)-L-glutamic acid
N-Pteroyl-L-glutamic acid
N-[(4-{[(2-Amino-4-oxo-1,4-dihydropteridin-6-yl)methyl]amino}phenyl)carbonyl]-L-glutamic acid
N-[(4-{[(2-amino-4-oxo-1,4-dihydropteridin-6-yl)methyl]amino}phenyl)carbonyl]-L-glutamic acid
N-[4-[[(2-Amino-3,4-dihydro-4-oxo-6-pteridinyl)methyl]amino]benzoyl]-L-glutamic acid
NCGC00016265-01
NCGC00142391-01
NINDS_000494
NSC 3073
Nifolin
Nifolin [Denmark]
Novofolacid
Novofolacid [Canada]
PGA
PGA (VAN)
Prestwick3_000627
Prestwick_230
PteGlu
Pteroyl-L-glutamate
Pteroyl-L-glutamic acid
Pteroyl-L-monoglutamate
Pteroyl-L-monoglutamic acid
Pteroylglutamate
Pteroylglutamic acid
Pteroylmonoglutamate
Pteroylmonoglutamic acid
SAM002264616
SDCCGMLS-0066738.P001
SMP2_000137
SMR000471860
SPBio_001357
SPECTRUM1502020
Serum Folate Level
Spectrum2_001459
Spectrum3_000749
Spectrum4_001751
Spectrum5_000602
Spectrum_001381
UNII-935E97BOY8
Usaf cb-13
Vitamin B11
Vitamin B9
Vitamin Bc
Vitamin Be
Vitamin M
bmse000299
folic acid
nchembio.108-comp10
6
CyanocobalaminNutraceuticalPhase 223768-19-944176380
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 (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
7FolateNutraceuticalPhase 24143
8
cobalaminNutraceuticalPhase 223713408-78-16438156
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 Cblc23 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:

34
Bone, Eye, Bone marrow

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
Early onset methylmalonic aciduria and homocystinuria cblC type with demyelinating neuropathy. (20610126)
2010
6
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
7
Spectrum of MMACHC mutations in Italian and Portuguese patients with combined methylmalonic aciduria and homocystinuria, cblC type. (18164228)
2008
8
DNA-based diagnosis of methylmalonic aciduria and homocystinuria, cblC type in a Chinese patient presenting with mild developmental delay. (16963011)
2007
9
Marfanoid features in a child with combined methylmalonic aciduria and homocystinuria (CblC type). (17768669)
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:

68 (show all 14)
id Symbol AA change Variation ID SNP ID
1MMACHCp.Gln27ArgVAR_024770rs546099787
2MMACHCp.Leu116ProVAR_024771rs121918240
3MMACHCp.His122ArgVAR_024772
4MMACHCp.Tyr130HisVAR_024773rs372670428
5MMACHCp.Gly147AlaVAR_024774rs140522266
6MMACHCp.Gly147AspVAR_024775rs140522266
7MMACHCp.Gly156AspVAR_024776
8MMACHCp.Trp157CysVAR_024777
9MMACHCp.Arg161GlyVAR_024778
10MMACHCp.Arg161GlnVAR_024779rs121918243
11MMACHCp.Arg189SerVAR_024780rs200895671
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)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.271dupA (p.Arg91Lysfs)duplicationPathogenicrs398124292GRCh38Chr 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
1
Show member pathways
9.7MMACHC, MTR
29.7MMACHC, MTR
3
Show member pathways
9.7CBS, MTR
4
Show member pathways
9.3MMACHC, MTHFD1, MTR
5
Show member pathways
9.2CBS, MTHFD1, MTR

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

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

idNameGO IDScoreTop Affiliating Genes
1cytosolGO:00058297.7CBL, CBS, FABP3, MMACHC, MTHFD1, MTR

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

idNameGO IDScoreTop Affiliating Genes
1methionine biosynthetic processGO:00090869.9MTHFD1, MTR
2transsulfurationGO:00193469.6CBS, MTHFD1
3cobalamin metabolic processGO:00092359.4MMACHC, MTR

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

idNameGO IDScoreTop Affiliating Genes
1cobalamin bindingGO:00314199.7MMACHC, MTR

Sources for Methylmalonic Aciduria and Homocystinuria, Cblc Type

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet