MCID: MTH076
MIFTS: 44

Methylmalonic Aciduria Due to Methylmalonyl-Coa Mutase Deficiency

Categories: Genetic diseases, Nephrological diseases, Metabolic diseases, Rare diseases

Aliases & Classifications for Methylmalonic Aciduria Due to Methylmalonyl-Coa Mutase...

MalaCards integrated aliases for Methylmalonic Aciduria Due to Methylmalonyl-Coa Mutase Deficiency:

Name: Methylmalonic Aciduria Due to Methylmalonyl-Coa Mutase Deficiency 57 12 29 6
Methylmalonic Aciduria, Mut(0) Type 57 29 6
Vitamin B12-Unresponsive Methylmalonic Aciduria 12 59
Methylmalonyl-Coenzyme a Mutase Deficiency 59 73
Methylmalonic Aciduria, Mut Type 29 6
Methylmalonic Aciduria, Mut Type 57 13
Methylmalonic Acidemia Due to Methylmalonyl-Coa Mutase Deficiency Mma Due to Mcm Deficiency 57
Aciduria, Methylmalonic, Due to Methylmalonyl-Coa Mutase Deficiency 40
Methylmalonic Acidemia Due to Methylmalonyl-Coa Mutase Deficiency 12
Methylmalonicaciduria Due to Methylmalonyl-Coa Mutase Deficiency 75
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 59
Vitamin B12-Unresponsive Methylmalonic Aciduria Type Mut0 59
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- 59
Vitamin B12-Unresponsive Methylmalonic Aciduria Type Mut- 59
Vitamin B12-Unresponsive Methylmalonic Acidemia 59
Complete Deficiency of Methylmalonyl-Coa Mutase 59
Partial Deficiency of Methylmalonyl-Coa Mutase 59
Methylmalonicaciduria Vitamin B12 Unresponsive 75
Methylmalonyl-Coa Mutase Deficiency 59
Methylmalonic Aciduria Mut Type 12
Methylmalonic Aciduria Type Mut 75
Mmam 75

Characteristics:

Orphanet epidemiological data:

59
vitamin b12-unresponsive methylmalonic acidemia
Inheritance: Autosomal recessive; Age of onset: Childhood,Infancy,Neonatal; Age of death: early childhood;
vitamin b12-unresponsive methylmalonic acidemia type mut0
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal;
vitamin b12-unresponsive methylmalonic acidemia type mut-
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
mut-0 denotes individuals with cultured fibroblast mutase activity that is undetectable secondary to no functional mutase
mut- denotes individuals with structurally altered mutase with reduced affinity for adenosylcobalamin (adocbl)
incidence of 1/50,000 births


HPO:

32
methylmalonic aciduria due to methylmalonyl-coa mutase deficiency:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Methylmalonic Aciduria Due to Methylmalonyl-Coa Mutase...

OMIM : 57 Methylmalonic aciduria is a genetically heterogeneous disorder of methylmalonate and cobalamin (cbl; vitamin B12) metabolism. Isolated methylmalonic aciduria is found in patients with mutations in the MUT gene causing partial, mut(-), or complete, mut(0), enzyme deficiency. This form is unresponsive to B12 therapy. Various forms of isolated methylmalonic aciduria also occur in a subset of patients with defects in the synthesis of the MUT coenzyme adenosylcobalamin (AdoCbl) and are classified according to complementation group: cblA (251100), caused by mutation in the MMAA gene (607481) on chromosome 4q31, and cblB (251110), caused by mutation in the MMAB gene (607568) on 12q24. Combined methylmalonic aciduria and homocystinuria may be seen in complementation groups cblC (277400), cblD (277410), and cblF (277380). See the comprehensive review of Ledley (1990). (251000)

MalaCards based summary : Methylmalonic Aciduria Due to Methylmalonyl-Coa Mutase Deficiency, also known as methylmalonic aciduria, mut(0) type, is related to methylmalonic aciduria, cblb type and methylmalonyl-coenzyme a mutase deficiency. An important gene associated with Methylmalonic Aciduria Due to Methylmalonyl-Coa Mutase Deficiency is MUT (Methylmalonyl-CoA Mutase), and among its related pathways/superpathways are Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha) and Metabolism of water-soluble vitamins and cofactors. Affiliated tissues include globus pallidus and kidney, and related phenotypes are intellectual disability and seizures

UniProtKB/Swiss-Prot : 75 Methylmalonic aciduria type mut: An often fatal disorder of organic acid metabolism. Common clinical features include lethargy, vomiting, failure to thrive, hypotonia, neurological deficit and early death. Two forms of the disease are distinguished by the presence (mut-) or absence (mut0) of residual enzyme activity. Mut0 patients have more severe neurological manifestations of the disease than do MUT- patients. MMAM is unresponsive to vitamin B12 therapy.

Disease Ontology : 12 A methylmalonic acidemia characterized by accumulation of methylmalonic acid in the blood that is unresponsive to vitamn B12 therapy and that has material basis in mutation in the MUT gene on chromosome 6p12.3.

Related Diseases for Methylmalonic Aciduria Due to Methylmalonyl-Coa Mutase...

Diseases related to Methylmalonic Aciduria Due to Methylmalonyl-Coa Mutase Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 methylmalonic aciduria, cblb type 30.9 MMAA MUT
2 methylmalonyl-coenzyme a mutase deficiency 12.9
3 organic acidemia 9.5 MMAA MUT
4 transcobalamin ii deficiency 9.4 MMAA MUT
5 amino acid metabolic disorder 9.3 MMAA MUT
6 propionic acidemia 9.2 MMAA MUT

Graphical network of the top 20 diseases related to Methylmalonic Aciduria Due to Methylmalonyl-Coa Mutase Deficiency:



Diseases related to Methylmalonic Aciduria Due to Methylmalonyl-Coa Mutase Deficiency

Symptoms & Phenotypes for Methylmalonic Aciduria Due to Methylmalonyl-Coa Mutase...

Symptoms via clinical synopsis from OMIM:

57
Growth Weight:
failure to thrive

Metabolic Features:
dehydration
neonatal or infantile metabolic ketoacidosis

Hematology:
thrombocytopenia
leukopenia

Neurologic Central Nervous System:
coma
lethargy
developmental delay
hypotonia
cerebellar hemorrhage (rare)
more
Genitourinary Kidneys:
chronic renal failure
interstitial nephritis

Abdomen Liver:
hepatomegaly

Cardiovascular Heart:
cardiomyopathy

Abdomen Pancreas:
pancreatitis

Laboratory Abnormalities:
hyperammonemia
metabolic ketoacidosis
hyperglycinemia
normal serum cobalamin
methymalonicaciduria
more
Abdomen Gastrointestinal:
recurrent episodes of vomiting


Clinical features from OMIM:

251000

Human phenotypes related to Methylmalonic Aciduria Due to Methylmalonyl-Coa Mutase Deficiency:

59 32 (show top 50) (show all 52)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 59 32 frequent (33%) Frequent (79-30%),Frequent (79-30%),Frequent (79-30%) HP:0001249
2 seizures 59 32 occasional (7.5%) Occasional (29-5%),Occasional (29-5%) HP:0001250
3 ataxia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001251
4 muscular hypotonia 59 32 frequent (33%) Frequent (79-30%),Frequent (79-30%),Frequent (79-30%) HP:0001252
5 dysarthria 59 32 frequent (33%) Frequent (79-30%) HP:0001260
6 failure to thrive 59 32 hallmark (90%) Very frequent (99-80%) HP:0001508
7 nausea and vomiting 59 32 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%),Frequent (79-30%) HP:0002017
8 respiratory insufficiency 59 32 hallmark (90%) Very frequent (99-80%) HP:0002093
9 neurological speech impairment 59 32 occasional (7.5%) Occasional (29-5%) HP:0002167
10 global developmental delay 59 32 frequent (33%) Frequent (79-30%),Frequent (79-30%),Frequent (79-30%) HP:0001263
11 splenomegaly 59 32 frequent (33%) Frequent (79-30%) HP:0001744
12 hepatomegaly 59 32 frequent (33%) Frequent (79-30%),Frequent (79-30%),Occasional (29-5%) HP:0002240
13 optic atrophy 59 32 occasional (7.5%) Occasional (29-5%),Occasional (29-5%),Occasional (29-5%) HP:0000648
14 renal insufficiency 59 32 occasional (7.5%) Occasional (29-5%),Occasional (29-5%),Occasional (29-5%) HP:0000083
15 renal tubular dysfunction 59 32 occasional (7.5%) Occasional (29-5%) HP:0000124
16 dehydration 59 32 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0001944
17 immunodeficiency 59 32 occasional (7.5%) Occasional (29-5%),Frequent (79-30%) HP:0002721
18 anemia 59 32 occasional (7.5%) Occasional (29-5%),Occasional (29-5%),Occasional (29-5%) HP:0001903
19 abdominal pain 59 32 occasional (7.5%) Occasional (29-5%) HP:0002027
20 hemiplegia/hemiparesis 59 32 occasional (7.5%) Occasional (29-5%) HP:0004374
21 feeding difficulties 59 32 frequent (33%) Frequent (79-30%) HP:0011968
22 respiratory distress 59 32 frequent (33%) Frequent (79-30%),Very frequent (99-80%) HP:0002098
23 growth delay 59 32 hallmark (90%) Very frequent (99-80%) HP:0001510
24 cardiomyopathy 59 32 occasional (7.5%) Occasional (29-5%),Occasional (29-5%) HP:0001638
25 dystonia 59 32 occasional (7.5%) Occasional (29-5%),Frequent (79-30%) HP:0001332
26 thrombocytopenia 59 32 frequent (33%) Frequent (79-30%),Frequent (79-30%),Occasional (29-5%) HP:0001873
27 pancreatitis 59 32 occasional (7.5%) Occasional (29-5%),Occasional (29-5%),Occasional (29-5%) HP:0001733
28 anorexia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002039
29 coma 59 32 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%),Very frequent (99-80%) HP:0001259
30 neutropenia 59 32 occasional (7.5%) Occasional (29-5%),Occasional (29-5%) HP:0001875
31 sepsis 59 32 occasional (7.5%) Occasional (29-5%) HP:0100806
32 stroke 59 32 occasional (7.5%) Occasional (29-5%) HP:0001297
33 choreoathetosis 59 32 occasional (7.5%) Occasional (29-5%),Occasional (29-5%),Occasional (29-5%) HP:0001266
34 hyperammonemia 59 32 occasional (7.5%) Occasional (29-5%),Occasional (29-5%),Very frequent (99-80%) HP:0001987
35 lethargy 59 32 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%),Very frequent (99-80%) HP:0001254
36 macrocytic anemia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001972
37 leukopenia 59 32 frequent (33%) Frequent (79-30%) HP:0001882
38 tetraparesis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002273
39 paraparesis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002385
40 chorea 59 Occasional (29-5%)
41 vomiting 32 HP:0002013
42 abnormality of movement 59 Occasional (29-5%)
43 methylmalonic aciduria 32 HP:0012120
44 tubulointerstitial nephritis 32 HP:0001970
45 generalized hypotonia 32 HP:0001290
46 stage 5 chronic kidney disease 32 HP:0003774
47 delayed cns myelination 32 HP:0002188
48 metabolic ketoacidosis 32 HP:0005979
49 hyperglycinemia 32 HP:0002154
50 cerebellar hemorrhage 32 occasional (7.5%) HP:0011695

Drugs & Therapeutics for Methylmalonic Aciduria Due to Methylmalonyl-Coa Mutase...

Search Clinical Trials , NIH Clinical Center for Methylmalonic Aciduria Due to Methylmalonyl-Coa Mutase Deficiency

Genetic Tests for Methylmalonic Aciduria Due to Methylmalonyl-Coa Mutase...

Genetic tests related to Methylmalonic Aciduria Due to Methylmalonyl-Coa Mutase Deficiency:

# Genetic test Affiliating Genes
1 Methylmalonic Aciduria Due to Methylmalonyl-Coa Mutase Deficiency 29 MUT
2 Methylmalonic Aciduria, Mut(-) Type 29
3 Methylmalonic Aciduria, Mut(0) Type 29

Anatomical Context for Methylmalonic Aciduria Due to Methylmalonyl-Coa Mutase...

MalaCards organs/tissues related to Methylmalonic Aciduria Due to Methylmalonyl-Coa Mutase Deficiency:

41
Globus Pallidus, Kidney

Publications for Methylmalonic Aciduria Due to Methylmalonyl-Coa Mutase...

Articles related to Methylmalonic Aciduria Due to Methylmalonyl-Coa Mutase Deficiency:

# Title Authors Year
1
Atypical vitamin B12-unresponsive methylmalonic aciduria in sibship with severe progressive encephalomyelopathy: a new genetic disease? ( 8741039 )
1996

Variations for Methylmalonic Aciduria Due to Methylmalonyl-Coa Mutase...

UniProtKB/Swiss-Prot genetic disease variations for Methylmalonic Aciduria Due to Methylmalonyl-Coa Mutase Deficiency:

75 (show top 50) (show all 126)
# Symbol AA change Variation ID SNP ID
1 MUT p.Arg93His VAR_004409 rs121918251
2 MUT p.Trp105Arg VAR_004410 rs121918249
3 MUT p.Ala191Glu VAR_004411 rs760782399
4 MUT p.Arg228Gln VAR_004412 rs770810987
5 MUT p.Tyr231Asn VAR_004413 rs864309736
6 MUT p.Gly312Val VAR_004414 rs864309734
7 MUT p.Val368Asp VAR_004416
8 MUT p.Arg369His VAR_004417 rs564069299
9 MUT p.Ala377Glu VAR_004418 rs121918250
10 MUT p.Gly623Arg VAR_004420 rs121918254
11 MUT p.Gly626Cys VAR_004421 rs982110849
12 MUT p.Gly630Glu VAR_004422 rs143023066
13 MUT p.Val633Gly VAR_004423 rs200055428
14 MUT p.Gly648Asp VAR_004424 rs766721811
15 MUT p.Val669Glu VAR_004425
16 MUT p.His678Arg VAR_004427 rs147094927
17 MUT p.Leu685Arg VAR_004429 rs864309739
18 MUT p.Arg694Trp VAR_004430 rs777758903
19 MUT p.Gly703Arg VAR_004431 rs121918255
20 MUT p.Gly717Val VAR_004432 rs121918252
21 MUT p.Gly94Val VAR_022393 rs535411418
22 MUT p.Arg108His VAR_022394 rs483352778
23 MUT p.Ala137Val VAR_022395
24 MUT p.Ser148Leu VAR_022396
25 MUT p.Asp156Asn VAR_022397
26 MUT p.Gly158Val VAR_022398
27 MUT p.Phe174Ser VAR_022399 rs864309733
28 MUT p.Gly203Arg VAR_022400 rs778702777
29 MUT p.Gly215Ser VAR_022401 rs121918258
30 MUT p.Gln218His VAR_022402
31 MUT p.Asn219Tyr VAR_022403 rs121918256
32 MUT p.Ser262Asn VAR_022404
33 MUT p.Gln293Pro VAR_022405
34 MUT p.Leu328Phe VAR_022406 rs796052002
35 MUT p.Ala535Pro VAR_022408 rs760183775
36 MUT p.Tyr587Cys VAR_022409
37 MUT p.Pro615Thr VAR_022410
38 MUT p.Lys621Asn VAR_022411
39 MUT p.Gln624Arg VAR_022412 rs768521956
40 MUT p.His627Arg VAR_022413 rs372486357
41 MUT p.Gly637Glu VAR_022414
42 MUT p.Phe638Ile VAR_022415
43 MUT p.Asp640Tyr VAR_022416 rs865815395
44 MUT p.Gly642Arg VAR_022417 rs747897332
45 MUT p.Met700Lys VAR_022418 rs140600746
46 MUT p.Ile69Val VAR_023472 rs115923556
47 MUT p.Gln109Arg VAR_023473
48 MUT p.Ala324Thr VAR_023474
49 MUT p.Leu328Pro VAR_023475 rs965316043
50 MUT p.Arg616Cys VAR_023476 rs765284825

ClinVar genetic disease variations for Methylmalonic Aciduria Due to Methylmalonyl-Coa Mutase Deficiency:

6
(show top 50) (show all 219)
# Gene Variation Type Significance SNP ID Assembly Location
1 MUT NM_000255.3(MUT): c.52C> T (p.Gln18Ter) single nucleotide variant Pathogenic rs121918248 GRCh37 Chromosome 6, 49427128: 49427128
2 MUT NM_000255.3(MUT): c.52C> T (p.Gln18Ter) single nucleotide variant Pathogenic rs121918248 GRCh38 Chromosome 6, 49459415: 49459415
3 MUT NM_000255.3(MUT): c.313T> C (p.Trp105Arg) single nucleotide variant Pathogenic rs121918249 GRCh37 Chromosome 6, 49426867: 49426867
4 MUT NM_000255.3(MUT): c.313T> C (p.Trp105Arg) single nucleotide variant Pathogenic rs121918249 GRCh38 Chromosome 6, 49459154: 49459154
5 MUT NM_000255.3(MUT): c.1130C> A (p.Ala377Glu) single nucleotide variant Pathogenic rs121918250 GRCh37 Chromosome 6, 49419381: 49419381
6 MUT NM_000255.3(MUT): c.1130C> A (p.Ala377Glu) single nucleotide variant Pathogenic rs121918250 GRCh38 Chromosome 6, 49451668: 49451668
7 MUT NM_000255.3(MUT): c.278G> A (p.Arg93His) single nucleotide variant Pathogenic rs121918251 GRCh37 Chromosome 6, 49426902: 49426902
8 MUT NM_000255.3(MUT): c.278G> A (p.Arg93His) single nucleotide variant Pathogenic rs121918251 GRCh38 Chromosome 6, 49459189: 49459189
9 MUT NM_000255.3(MUT): c.2150G> T (p.Gly717Val) single nucleotide variant Pathogenic rs121918252 GRCh37 Chromosome 6, 49399544: 49399544
10 MUT NM_000255.3(MUT): c.2150G> T (p.Gly717Val) single nucleotide variant Pathogenic rs121918252 GRCh38 Chromosome 6, 49431831: 49431831
11 MUT NM_000255.3(MUT): c.349G> T (p.Glu117Ter) single nucleotide variant Pathogenic rs121918253 GRCh37 Chromosome 6, 49426831: 49426831
12 MUT NM_000255.3(MUT): c.349G> T (p.Glu117Ter) single nucleotide variant Pathogenic rs121918253 GRCh38 Chromosome 6, 49459118: 49459118
13 MUT MUT, 2-BP DEL, 769CA deletion Pathogenic
14 MUT NM_000255.3(MUT): c.1867G> A (p.Gly623Arg) single nucleotide variant Pathogenic rs121918254 GRCh37 Chromosome 6, 49408008: 49408008
15 MUT NM_000255.3(MUT): c.1867G> A (p.Gly623Arg) single nucleotide variant Pathogenic rs121918254 GRCh38 Chromosome 6, 49440295: 49440295
16 MUT NM_000255.3(MUT): c.2107G> C (p.Gly703Arg) single nucleotide variant Pathogenic rs121918255 GRCh37 Chromosome 6, 49403186: 49403186
17 MUT NM_000255.3(MUT): c.2107G> C (p.Gly703Arg) single nucleotide variant Pathogenic rs121918255 GRCh38 Chromosome 6, 49435473: 49435473
18 MUT NM_000255.3(MUT): c.655A> T (p.Asn219Tyr) single nucleotide variant Pathogenic rs121918256 GRCh37 Chromosome 6, 49425502: 49425502
19 MUT NM_000255.3(MUT): c.655A> T (p.Asn219Tyr) single nucleotide variant Pathogenic rs121918256 GRCh38 Chromosome 6, 49457789: 49457789
20 MUT NM_000255.3(MUT): c.322C> T (p.Arg108Cys) single nucleotide variant Pathogenic rs121918257 GRCh37 Chromosome 6, 49426858: 49426858
21 MUT NM_000255.3(MUT): c.322C> T (p.Arg108Cys) single nucleotide variant Pathogenic rs121918257 GRCh38 Chromosome 6, 49459145: 49459145
22 MUT NM_000255.3(MUT): c.643G> A (p.Gly215Ser) single nucleotide variant Pathogenic rs121918258 GRCh37 Chromosome 6, 49425514: 49425514
23 MUT NM_000255.3(MUT): c.643G> A (p.Gly215Ser) single nucleotide variant Pathogenic rs121918258 GRCh38 Chromosome 6, 49457801: 49457801
24 MUT MUT, IVS11, C-A, -891 single nucleotide variant Pathogenic
25 MUT MUT, 1808G-A single nucleotide variant Pathogenic
26 MMAA NM_172250.2(MMAA): c.433C> T (p.Arg145Ter) single nucleotide variant Pathogenic rs104893851 GRCh37 Chromosome 4, 146560724: 146560724
27 MMAA NM_172250.2(MMAA): c.433C> T (p.Arg145Ter) single nucleotide variant Pathogenic rs104893851 GRCh38 Chromosome 4, 145639572: 145639572
28 MUT NM_000255.3(MUT): c.1445-2A> G single nucleotide variant Pathogenic rs398123276 GRCh37 Chromosome 6, 49415500: 49415500
29 MUT NM_000255.3(MUT): c.1445-2A> G single nucleotide variant Pathogenic rs398123276 GRCh38 Chromosome 6, 49447787: 49447787
30 MUT NM_000255.3(MUT): c.91C> T (p.Arg31Ter) single nucleotide variant Pathogenic rs398123278 GRCh37 Chromosome 6, 49427089: 49427089
31 MUT NM_000255.3(MUT): c.91C> T (p.Arg31Ter) single nucleotide variant Pathogenic rs398123278 GRCh38 Chromosome 6, 49459376: 49459376
32 MUT NM_000255.3(MUT): c.323G> A (p.Arg108His) single nucleotide variant Pathogenic rs483352778 GRCh37 Chromosome 6, 49426857: 49426857
33 MUT NM_000255.3(MUT): c.323G> A (p.Arg108His) single nucleotide variant Pathogenic rs483352778 GRCh38 Chromosome 6, 49459144: 49459144
34 MUT NM_000255.3(MUT): c.1207C> T (p.Arg403Ter) single nucleotide variant Pathogenic rs727504020 GRCh37 Chromosome 6, 49419304: 49419304
35 MUT NM_000255.3(MUT): c.1207C> T (p.Arg403Ter) single nucleotide variant Pathogenic rs727504020 GRCh38 Chromosome 6, 49451591: 49451591
36 MUT NM_000255.3(MUT): c.280G> A (p.Gly94Arg) single nucleotide variant Pathogenic rs727504022 GRCh37 Chromosome 6, 49426900: 49426900
37 MUT NM_000255.3(MUT): c.280G> A (p.Gly94Arg) single nucleotide variant Pathogenic rs727504022 GRCh38 Chromosome 6, 49459187: 49459187
38 MUT NM_000255.3(MUT): c.1663G> A (p.Ala555Thr) single nucleotide variant Likely pathogenic rs753564352 GRCh37 Chromosome 6, 49412365: 49412365
39 MUT NM_000255.3(MUT): c.1663G> A (p.Ala555Thr) single nucleotide variant Likely pathogenic rs753564352 GRCh38 Chromosome 6, 49444652: 49444652
40 MUT NM_000255.3(MUT): c.1108A> C (p.Thr370Pro) single nucleotide variant Likely pathogenic rs368790885 GRCh37 Chromosome 6, 49419403: 49419403
41 MUT NM_000255.3(MUT): c.1108A> C (p.Thr370Pro) single nucleotide variant Likely pathogenic rs368790885 GRCh38 Chromosome 6, 49451690: 49451690
42 MUT NM_000255.3(MUT): c.1106G> A (p.Arg369His) single nucleotide variant Pathogenic rs564069299 GRCh37 Chromosome 6, 49419405: 49419405
43 MUT NM_000255.3(MUT): c.1106G> A (p.Arg369His) single nucleotide variant Pathogenic rs564069299 GRCh38 Chromosome 6, 49451692: 49451692
44 MUT NM_000255.3(MUT): c.1084-10A> G single nucleotide variant Conflicting interpretations of pathogenicity rs777031588 GRCh37 Chromosome 6, 49419437: 49419437
45 MUT NM_000255.3(MUT): c.1084-10A> G single nucleotide variant Conflicting interpretations of pathogenicity rs777031588 GRCh38 Chromosome 6, 49451724: 49451724
46 MUT NM_000255.3(MUT): c.890C> T (p.Thr297Ile) single nucleotide variant Pathogenic rs547709692 GRCh38 Chromosome 6, 49456101: 49456101
47 MUT NM_000255.3(MUT): c.890C> T (p.Thr297Ile) single nucleotide variant Pathogenic rs547709692 GRCh37 Chromosome 6, 49423814: 49423814
48 MUT NM_000255.3(MUT): c.572C> A (p.Ala191Glu) single nucleotide variant Pathogenic rs760782399 GRCh37 Chromosome 6, 49425585: 49425585
49 MUT NM_000255.3(MUT): c.572C> A (p.Ala191Glu) single nucleotide variant Pathogenic rs760782399 GRCh38 Chromosome 6, 49457872: 49457872
50 MUT NM_000255.3(MUT): c.1891delG (p.Ala631Glnfs) deletion no interpretation for the single variant rs863224898 GRCh37 Chromosome 6, 49407984: 49407984

Expression for Methylmalonic Aciduria Due to Methylmalonyl-Coa Mutase...

Search GEO for disease gene expression data for Methylmalonic Aciduria Due to Methylmalonyl-Coa Mutase Deficiency.

Pathways for Methylmalonic Aciduria Due to Methylmalonyl-Coa Mutase...

Pathways related to Methylmalonic Aciduria Due to Methylmalonyl-Coa Mutase Deficiency according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.14 MMAA MUT
2
Show member pathways
11.93 MMAA MUT
3
Show member pathways
11.23 MMAA MUT
4
Show member pathways
10.98 MMAA MUT
5 10.28 MMAA MUT
6
Show member pathways
9.23 MMAA MUT

GO Terms for Methylmalonic Aciduria Due to Methylmalonyl-Coa Mutase...

Cellular components related to Methylmalonic Aciduria Due to Methylmalonyl-Coa Mutase Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mitochondrial matrix GO:0005759 8.62 MMAA MUT

Biological processes related to Methylmalonic Aciduria Due to Methylmalonyl-Coa Mutase Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cobalamin metabolic process GO:0009235 8.96 MMAA MUT
2 short-chain fatty acid catabolic process GO:0019626 8.62 MMAA MUT

Molecular functions related to Methylmalonic Aciduria Due to Methylmalonyl-Coa Mutase Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 identical protein binding GO:0042802 9.16 MMAA MUT
2 protein homodimerization activity GO:0042803 8.96 MMAA MUT
3 GTPase activity GO:0003924 8.62 MMAA MUT

Sources for Methylmalonic Aciduria Due to Methylmalonyl-Coa Mutase...

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11 DGIdb
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34 ICD10 via Orphanet
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62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
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74 UMLS via Orphanet
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