MCID: MTH054
MIFTS: 51

Methylmalonic Aciduria and Homocystinuria, Cblc Type

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

Aliases & Classifications for Methylmalonic Aciduria and Homocystinuria, Cblc Type

MalaCards integrated aliases for Methylmalonic Aciduria and Homocystinuria, Cblc Type:

Name: Methylmalonic Aciduria and Homocystinuria, Cblc Type 57 53 13
Methylmalonic Aciduria and Homocystinuria Type Cblc 12 75 15
Vitamin B12 Metabolic Defect with Combined Deficiency of Methylmalonyl-Coa Mutase and Homocysteine:methyltetrahydrofolate Methyltransferase 57 75
Methylmalonic Aciduria and Homocystinuria, Cblc Type, Digenic 57 6
Combined Defect in Adenosylcobalamin and Methylcobalamin Synthesis, Type Cblc 59
Methylmalonic Aciduria and Homocystinuria, Vitamin B12-Responsive 57
Methylmalonic Aciduria and Homocystinuria Vitamin B12-Responsive 75
Aciduria, Methylmalonic, and Homocystinuria, Cblc Type 40
Methylmalonic Acidemia with Homocystinuria, Type Cblc 59
Methylmalonic Aciduria with Homocystinuria, Type Cblc 59
Methylmalonic Acidemia and Homocystinuria, Cblc Type 57
Methylmalonic Acidemia with Homocystinuria Type Cblc 53
Methylmalonic Acidemia and Homocystinuria Cblc Type 75
Methylmalonic Acidemia with Homocystinuria Cblc 29
Methylmalonic Acidemia and Homocystinuria Cblc 53
Methylmalonic Aciduria and Homocystinuria Cblc 53
Methylmalonic Acidemia with Homocystinuria 73
Cobalamin C Deficiency 12
Cobalamin C Disease 53
Cobalamin C Defect 59
Cblc Defect 59
Mmahcc 75
Mahcc 57
Cblc 53

Characteristics:

Orphanet epidemiological data:

59
methylmalonic acidemia with homocystinuria, type cblc
Inheritance: Autosomal recessive; Age of onset: All ages; Age of death: any age;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset usually in first year of life
early-onset associated with more severe course and early death
adolescent or adult onset associated with neuropsychiatric symptoms
patients with later onset do not have dysmorphic features
variable response to vitamin b12 therapy
see also cbld


HPO:

32
methylmalonic aciduria and homocystinuria, cblc type:
Onset and clinical course infantile onset
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Methylmalonic Aciduria and Homocystinuria, Cblc Type

OMIM : 57 Combined methylmalonic aciduria (MMA) and homocystinuria is a genetically heterogeneous disorder of cobalamin (cbl; vitamin B12) metabolism. The defect causes decreased levels of the coenzymes adenosylcobalamin (AdoCbl) and methylcobalamin (MeCbl), which results in decreased activity of the respective enzymes methylmalonyl-CoA mutase (MUT; 609058) and methyltetrahydrofolate:homocysteine methyltransferase, also known as methionine synthase (MTR; 156570). Different forms of the disorder have been classified according to complementation groups of cells in vitro: cblC, cblD (277410), cblF (277380), and cblJ (614857). Isolated methylmalonic acidurias have also been classified by complementation groups: MMA 'mut' (251000) is caused by mutation in the MUT gene on chromosome 6p21; MMA cblA (251100) is caused by mutation in the MMAA gene (607481) on 4q31; and MMA cblB (251110) is caused by mutation in the MMAB gene (607568) on 12q24. Methylmalonic aciduria and homocystinuria, cblC type, is the most common inborn error of vitamin B12 (cobalamin) metabolism, with about 250 known cases (Lerner-Ellis et al., 2006). 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 (Rosenblatt et al., 1997). (277400)

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 lethargy and seizures. 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/superpathways are Glucose / Energy Metabolism and Folate Metabolism. The drugs Hydroxocobalamin and Cyanocobalamin have been mentioned in the context of this disorder. Affiliated tissues include kidney, liver and bone, and related phenotypes are hydrocephalus and seizures

UniProtKB/Swiss-Prot : 75 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.

NIH Rare Diseases : 53 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.

Disease Ontology : 12 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.

Related Diseases for Methylmalonic Aciduria and Homocystinuria, Cblc Type

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 & Phenotypes for Methylmalonic Aciduria and Homocystinuria, Cblc Type

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Ears:
low-set ears
large, floppy ears

Head And Neck Eyes:
nystagmus
pigmentary retinopathy
decreased visual acuity

Growth Other:
failure to thrive

Hematology:
anemia
thrombocytopenia
neutropenia
megaloblastic anemia

Head And Neck Face:
long face
high forehead
flat philtrum

Genitourinary Kidneys:
renal failure
hemolytic-uremic syndrome
thrombotic microangiopathic nephropathy

Head And Neck Head:
hydrocephalus
microcephaly

Neurologic Central Nervous System:
seizures
lethargy
developmental delay
hypotonia
mental retardation
more
Laboratory Abnormalities:
proteinuria
hematuria
methylmalonic aciduria
uremia
cystathioninuria
more
Cardiovascular Vascular:
thromboembolism
thrombotic microangiopathy
vascular lesions

Metabolic Features:
metabolic acidosis

Abdomen Gastrointestinal:
poor feeding


Clinical features from OMIM:

277400

Human phenotypes related to Methylmalonic Aciduria and Homocystinuria, Cblc Type:

59 32 (show all 50)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hydrocephalus 59 32 hallmark (90%) Very frequent (99-80%) HP:0000238
2 seizures 59 32 hallmark (90%) Very frequent (99-80%) HP:0001250
3 failure to thrive 59 32 hallmark (90%) Very frequent (99-80%) HP:0001508
4 microcephaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0000252
5 retinopathy 59 32 hallmark (90%) Very frequent (99-80%) HP:0000488
6 fatigue 59 32 hallmark (90%) Very frequent (99-80%) HP:0012378
7 pallor 59 32 hallmark (90%) Very frequent (99-80%) HP:0000980
8 anorexia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002039
9 lethargy 59 32 hallmark (90%) Very frequent (99-80%) HP:0001254
10 megaloblastic bone marrow 59 32 hallmark (90%) Very frequent (99-80%) HP:0001980
11 low-set ears 32 HP:0000369
12 nystagmus 32 HP:0000639
13 intellectual disability 32 HP:0001249
14 muscular hypotonia 32 HP:0001252
15 tremor 32 HP:0001337
16 macrotia 32 HP:0000400
17 global developmental delay 32 HP:0001263
18 smooth philtrum 32 HP:0000319
19 visual impairment 32 HP:0000505
20 feeding difficulties in infancy 32 HP:0008872
21 renal insufficiency 32 HP:0000083
22 proteinuria 32 HP:0000093
23 nephropathy 32 HP:0000112
24 thromboembolism 32 HP:0001907
25 reduced visual acuity 32 HP:0007663
26 thrombocytopenia 32 HP:0001873
27 cerebral cortical atrophy 32 HP:0002120
28 hematuria 32 HP:0000790
29 dementia 32 HP:0000726
30 long face 32 HP:0000276
31 neutropenia 32 HP:0001875
32 high forehead 32 HP:0000348
33 abnormality of extrapyramidal motor function 32 HP:0002071
34 metabolic acidosis 32 HP:0001942
35 methylmalonic aciduria 32 HP:0012120
36 confusion 32 HP:0001289
37 generalized hypotonia 32 HP:0001290
38 pigmentary retinopathy 32 HP:0000580
39 megaloblastic anemia 32 HP:0001889
40 decreased methylcobalamin 32 HP:0003223
41 cystathioninuria 32 HP:0003153
42 homocystinuria 32 HP:0002156
43 hyperhomocystinemia 32 HP:0002160
44 hypomethioninemia 32 HP:0003658
45 methylmalonic acidemia 32 HP:0002912
46 cystathioninemia 32 HP:0003286
47 hemolytic-uremic syndrome 32 HP:0005575
48 decreased methionine synthase activity 32 HP:0003524
49 decreased adenosylcobalamin 32 HP:0003145
50 decreased methylmalonyl-coa mutase activity 32 HP:0003210

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


lethargy, seizures

Drugs & Therapeutics for Methylmalonic Aciduria and Homocystinuria, Cblc Type

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

(show all 16)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Hydroxocobalamin Approved Phase 2 13422-51-0 11953898 44475014
2
Cyanocobalamin Approved, Nutraceutical Phase 2 68-19-9 44176380
3
Folic Acid Approved, Nutraceutical, Vet_approved Phase 2 59-30-3 6037
4
Methylcobalamin Approved, Experimental, Investigational, Nutraceutical Phase 2 13422-55-4
5 Antioxidants Phase 2
6 Hematinics Phase 2
7 Micronutrients Phase 2
8 Trace Elements Phase 2
9 Ubiquinone Phase 2
10 Vitamin B 12 Phase 2
11 Vitamin B Complex Phase 2
12 Vitamins Phase 2
13
Cobalamin Nutraceutical Phase 2 13408-78-1 6438156
14 Folate Nutraceutical Phase 2
15 Vitamin B12 Nutraceutical Phase 2
16 Vitamin B9 Nutraceutical Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 EPI-743 in Cobalamin C Defect: Effects on Visual and Neurological Impairment Completed NCT01793090 Phase 2 Epi-743

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

Genetic Tests for Methylmalonic Aciduria and Homocystinuria, Cblc Type

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

# Genetic test Affiliating Genes
1 Methylmalonic Acidemia with Homocystinuria Cblc 29

Anatomical Context for Methylmalonic Aciduria and Homocystinuria, Cblc Type

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

41
Kidney, Liver, Bone, Eye, Bone Marrow

Publications for Methylmalonic Aciduria and Homocystinuria, Cblc Type

Articles related to Methylmalonic Aciduria and Homocystinuria, Cblc Type:

# Title Authors Year
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
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

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

75 (show all 14)
# Symbol AA change Variation ID SNP ID
1 MMACHC p.Gln27Arg VAR_024770 rs546099787
2 MMACHC p.Leu116Pro VAR_024771 rs121918240
3 MMACHC p.His122Arg VAR_024772
4 MMACHC p.Tyr130His VAR_024773 rs372670428
5 MMACHC p.Gly147Ala VAR_024774 rs140522266
6 MMACHC p.Gly147Asp VAR_024775 rs140522266
7 MMACHC p.Gly156Asp VAR_024776
8 MMACHC p.Trp157Cys VAR_024777 rs1002571805Methylmalonic
9 MMACHC p.Arg161Gly VAR_024778
10 MMACHC p.Arg161Gln VAR_024779 rs121918243
11 MMACHC p.Arg189Ser VAR_024780 rs200895671
12 MMACHC p.Leu193Pro VAR_024781
13 MMACHC p.Arg206Pro VAR_024782
14 MMACHC p.Arg206Trp VAR_024783 rs538023671

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

6
(show top 50) (show all 78)
# 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 MMACHC NM_015506.2(MMACHC): c.347T> C (p.Leu116Pro) single nucleotide variant Pathogenic rs121918240 GRCh37 Chromosome 1, 45973954: 45973954
4 MMACHC NM_015506.2(MMACHC): c.347T> C (p.Leu116Pro) single nucleotide variant Pathogenic rs121918240 GRCh38 Chromosome 1, 45508282: 45508282
5 MMACHC NM_015506.2(MMACHC): c.394C> T (p.Arg132Ter) single nucleotide variant Pathogenic rs121918241 GRCh37 Chromosome 1, 45974001: 45974001
6 MMACHC NM_015506.2(MMACHC): c.394C> T (p.Arg132Ter) single nucleotide variant Pathogenic rs121918241 GRCh38 Chromosome 1, 45508329: 45508329
7 MMACHC NM_015506.2(MMACHC): c.331C> T (p.Arg111Ter) single nucleotide variant Pathogenic rs121918242 GRCh37 Chromosome 1, 45973938: 45973938
8 MMACHC NM_015506.2(MMACHC): c.331C> T (p.Arg111Ter) single nucleotide variant Pathogenic rs121918242 GRCh38 Chromosome 1, 45508266: 45508266
9 MMACHC NM_015506.2(MMACHC): c.482G> A (p.Arg161Gln) single nucleotide variant Pathogenic rs121918243 GRCh37 Chromosome 1, 45974520: 45974520
10 MMACHC NM_015506.2(MMACHC): c.482G> A (p.Arg161Gln) single nucleotide variant Pathogenic rs121918243 GRCh38 Chromosome 1, 45508848: 45508848
11 MMACHC NM_015506.2(MMACHC): c.609G> A (p.Trp203Ter) single nucleotide variant Pathogenic rs587776889 GRCh37 Chromosome 1, 45974647: 45974647
12 MMACHC NM_015506.2(MMACHC): c.609G> A (p.Trp203Ter) single nucleotide variant Pathogenic rs587776889 GRCh38 Chromosome 1, 45508975: 45508975
13 MMACHC NM_015506.2(MMACHC): c.481C> T (p.Arg161Ter) single nucleotide variant Pathogenic rs370596113 GRCh37 Chromosome 1, 45974519: 45974519
14 MMACHC NM_015506.2(MMACHC): c.481C> T (p.Arg161Ter) single nucleotide variant Pathogenic rs370596113 GRCh38 Chromosome 1, 45508847: 45508847
15 MMACHC NM_015506.2(MMACHC): c.547_548delGT (p.Val183Thrfs) deletion Pathogenic rs398124293 GRCh37 Chromosome 1, 45974585: 45974586
16 MMACHC NM_015506.2(MMACHC): c.547_548delGT (p.Val183Thrfs) deletion Pathogenic rs398124293 GRCh38 Chromosome 1, 45508913: 45508914
17 MMACHC NM_015506.2(MMACHC): c.608G> A (p.Trp203Ter) single nucleotide variant Pathogenic rs398124295 GRCh37 Chromosome 1, 45974646: 45974646
18 MMACHC NM_015506.2(MMACHC): c.608G> A (p.Trp203Ter) single nucleotide variant Pathogenic rs398124295 GRCh38 Chromosome 1, 45508974: 45508974
19 MMACHC NM_015506.2(MMACHC): c.658_660delAAG (p.Lys220del) deletion Pathogenic rs398124296 GRCh37 Chromosome 1, 45974696: 45974698
20 MMACHC NM_015506.2(MMACHC): c.658_660delAAG (p.Lys220del) deletion Pathogenic rs398124296 GRCh38 Chromosome 1, 45509024: 45509026
21 MMACHC NM_015506.2(MMACHC): c.276G> T (p.Glu92Asp) single nucleotide variant Pathogenic rs556977618 GRCh37 Chromosome 1, 45973222: 45973222
22 MMACHC NM_015506.2(MMACHC): c.276G> T (p.Glu92Asp) single nucleotide variant Pathogenic rs556977618 GRCh38 Chromosome 1, 45507550: 45507550
23 MMACHC NM_015506.2(MMACHC): c.276G> A (p.Glu92=) single nucleotide variant Pathogenic rs556977618 GRCh37 Chromosome 1, 45973222: 45973222
24 MMACHC NM_015506.2(MMACHC): c.276G> A (p.Glu92=) single nucleotide variant Pathogenic rs556977618 GRCh38 Chromosome 1, 45507550: 45507550
25 MMACHC NM_015506.2(MMACHC): c.464G> A (p.Gly155Glu) single nucleotide variant Pathogenic rs606231425 GRCh37 Chromosome 1, 45974502: 45974502
26 MMACHC NM_015506.2(MMACHC): c.464G> A (p.Gly155Glu) single nucleotide variant Pathogenic rs606231425 GRCh38 Chromosome 1, 45508830: 45508830
27 MMACHC NM_015506.2(MMACHC): c.848G> T (p.Ter283Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs201025783 GRCh37 Chromosome 1, 45974886: 45974886
28 MMACHC NM_015506.2(MMACHC): c.848G> T (p.Ter283Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs201025783 GRCh38 Chromosome 1, 45509214: 45509214
29 MMACHC NM_015506.2(MMACHC): c.181C> T (p.Arg61Trp) single nucleotide variant Uncertain significance rs200483477 GRCh38 Chromosome 1, 45507455: 45507455
30 MMACHC NM_015506.2(MMACHC): c.181C> T (p.Arg61Trp) single nucleotide variant Uncertain significance rs200483477 GRCh37 Chromosome 1, 45973127: 45973127
31 MMACHC NM_015506.2(MMACHC): c.316G> A (p.Glu106Lys) single nucleotide variant Uncertain significance rs201617713 GRCh38 Chromosome 1, 45508251: 45508251
32 MMACHC NM_015506.2(MMACHC): c.316G> A (p.Glu106Lys) single nucleotide variant Uncertain significance rs201617713 GRCh37 Chromosome 1, 45973923: 45973923
33 MMACHC NM_015506.2(MMACHC): c.328_331delAACC (p.Asn110Aspfs) deletion Pathogenic rs796052000 GRCh38 Chromosome 1, 45508263: 45508266
34 MMACHC NM_015506.2(MMACHC): c.328_331delAACC (p.Asn110Aspfs) deletion Pathogenic rs796052000 GRCh37 Chromosome 1, 45973935: 45973938
35 MMACHC NM_015506.2(MMACHC): c.388_390delTAC (p.Tyr130del) deletion Pathogenic/Likely pathogenic rs796051998 GRCh37 Chromosome 1, 45973995: 45973997
36 MMACHC NM_015506.2(MMACHC): c.388_390delTAC (p.Tyr130del) deletion Pathogenic/Likely pathogenic rs796051998 GRCh38 Chromosome 1, 45508323: 45508325
37 MMACHC NM_015506.2(MMACHC): c.420G> A (p.Trp140Ter) single nucleotide variant not provided rs796051996 GRCh37 Chromosome 1, 45974027: 45974027
38 MMACHC NM_015506.2(MMACHC): c.420G> A (p.Trp140Ter) single nucleotide variant not provided rs796051996 GRCh38 Chromosome 1, 45508355: 45508355
39 MMACHC NM_015506.2(MMACHC): c.440G> A (p.Gly147Asp) single nucleotide variant Pathogenic rs140522266 GRCh37 Chromosome 1, 45974478: 45974478
40 MMACHC NM_015506.2(MMACHC): c.440G> A (p.Gly147Asp) single nucleotide variant Pathogenic rs140522266 GRCh38 Chromosome 1, 45508806: 45508806
41 MMACHC NM_015506.2(MMACHC): c.440G> C (p.Gly147Ala) single nucleotide variant Pathogenic/Likely pathogenic rs140522266 GRCh38 Chromosome 1, 45508806: 45508806
42 MMACHC NM_015506.2(MMACHC): c.440G> C (p.Gly147Ala) single nucleotide variant Pathogenic/Likely pathogenic rs140522266 GRCh37 Chromosome 1, 45974478: 45974478
43 MMACHC NM_015506.2(MMACHC): c.616C> T (p.Arg206Trp) single nucleotide variant Uncertain significance rs538023671 GRCh38 Chromosome 1, 45508982: 45508982
44 MMACHC NM_015506.2(MMACHC): c.616C> T (p.Arg206Trp) single nucleotide variant Uncertain significance rs538023671 GRCh37 Chromosome 1, 45974654: 45974654
45 MMACHC NM_015506.2(MMACHC): c.766_771delGCCCCC (p.Ala256_Pro257del) deletion Uncertain significance rs796064513 GRCh37 Chromosome 1, 45974804: 45974809
46 MMACHC NM_015506.2(MMACHC): c.766_771delGCCCCC (p.Ala256_Pro257del) deletion Uncertain significance rs796064513 GRCh38 Chromosome 1, 45509132: 45509137
47 MMACHC NM_015506.2(MMACHC): c.615C> G (p.Tyr205Ter) single nucleotide variant Pathogenic rs747527726 GRCh37 Chromosome 1, 45974653: 45974653
48 MMACHC NM_015506.2(MMACHC): c.615C> G (p.Tyr205Ter) single nucleotide variant Pathogenic rs747527726 GRCh38 Chromosome 1, 45508981: 45508981
49 MMACHC NM_015506.2(MMACHC): c.389A> G (p.Tyr130Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs200094982 GRCh38 Chromosome 1, 45508324: 45508324
50 MMACHC NM_015506.2(MMACHC): c.389A> G (p.Tyr130Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs200094982 GRCh37 Chromosome 1, 45973996: 45973996

Expression for Methylmalonic Aciduria and Homocystinuria, Cblc Type

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

Pathways for Methylmalonic Aciduria and Homocystinuria, Cblc Type

GO Terms for Methylmalonic Aciduria and Homocystinuria, Cblc Type

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

# Name GO ID Score Top Affiliating Genes
1 oxidation-reduction process GO:0055114 9.62 CBS MMACHC MTHFD1 PRDX1
2 cobalamin metabolic process GO:0009235 9.26 MMACHC MTR
3 methionine biosynthetic process GO:0009086 9.16 MTHFD1 MTR
4 transsulfuration GO:0019346 8.96 CBS MTHFD1
5 cellular amino acid biosynthetic process GO:0008652 8.8 CBS MTHFD1 MTR

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

# Name GO ID Score Top Affiliating Genes
1 cobalamin binding GO:0031419 8.62 MMACHC MTR

Sources for Methylmalonic Aciduria and Homocystinuria, Cblc Type

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34 ICD10 via Orphanet
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69 SNOMED-CT via HPO
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