MMAM
MCID: MTH076
MIFTS: 51

Methylmalonic Aciduria Due to Methylmalonyl-Coa Mutase Deficiency (MMAM)

Categories: Blood diseases, Genetic diseases, Liver diseases, Metabolic diseases, Nephrological diseases, Neuronal 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 20 29 6
Methylmalonyl-Coenzyme a Mutase Deficiency 20 58 70
Methylmalonic Aciduria, Mut(0) Type 57 29 6
Methylmalonic Aciduria, Mut Type 57 20 13
Methylmalonic Acidemia Due to Methylmalonyl-Coa Mutase Deficiency 57 12
Vitamin B12-Unresponsive Methylmalonic Aciduria 12 58
Vitamin B12-Unresponsive Methylmalonic Acidemia 20 58
Methylmalonic Aciduria, Mut Type 29 6
Aciduria, Methylmalonic, Due to Methylmalonyl-Coa Mutase Deficiency 39
Methylmalonicaciduria Due to Methylmalonyl-Coa Mutase Deficiency 72
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 58
Vitamin B12-Unresponsive Methylmalonic Aciduria Type Mut0 58
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- 58
Vitamin B12-Unresponsive Methylmalonic Aciduria Type Mut- 58
Complete Deficiency of Methylmalonyl-Coa Mutase 58
Partial Deficiency of Methylmalonyl-Coa Mutase 58
Methylmalonicaciduria Vitamin B12 Unresponsive 72
Methylmalonyl-Coa Mutase Deficiency 58
Methylmalonic Aciduria Mut Type 12
Methylmalonic Aciduria Type Mut 72
Mma Due to Mcm Deficiency 57
Mcm Deficiency 20
Mmam 72

Characteristics:

Orphanet epidemiological data:

58
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 (Updated 05-Apr-2021)
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:

31
methylmalonic aciduria due to methylmalonyl-coa mutase deficiency:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare renal diseases
Inborn errors of metabolism


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

GARD : 20 Methylmalonyl-Coenzyme A mutase deficiency (MCM deficiency) is a type of methylmalonic acidemia caused by having too little methylmalonyl-CoA mutase. Methylmalonyl-CoA mutase (MCM) is one of the special proteins ( enzymes ) needed to breakdown certain amino acids found in the food we eat. It is needed to breakdown certain fats too. When the amino acids and fats are not broken down normally, substances which are harmful to the body (including methylmalonic acid) build up and can damage the nervous system, kidneys and other organs. Symptoms of MCM deficiency usually begin in infancy or early childhood and may include tiredness ( fatigue ), vomiting, dehydration, weak muscle tone ( hypotonia ), fever, breathing trouble, frequent illnesses and infections, and increased bleeding and bruising. Long term complications include developmental delay, intellectual disability, enlarged liver ( hepatomegaly ), chronic kidney disease, inflammation of the pancreas ( pancreatitis ), and in severe cases coma and death. Methylmalonyl-Coenzyme A mutase deficiency (MCM deficiency) is caused by changes or mutations in the MUT gene which can cause no enzyme to be produced ( MUT0 ) or less than normal amounts of the enzyme to be made ( MUT -). The more working enzyme that is made, the less severe the symptoms will be. MCM deficiency is inherited in an autosomal recessive manner. Diagnosis is made based on symptoms, special blood tests and genetic testing. Unlike some types of methylmalonic acidurias, B12 supplements are not helpful. Instead treatment includes a special diet low in proteins containing the amino acids isoleucine, methionine, threonine and valine and certain fats but high in calories. Other symptoms are treated as needed.

MalaCards based summary : Methylmalonic Aciduria Due to Methylmalonyl-Coa Mutase Deficiency, also known as methylmalonyl-coenzyme a mutase deficiency, is related to homocystinuria and organic acidemia. An important gene associated with Methylmalonic Aciduria Due to Methylmalonyl-Coa Mutase Deficiency is MMUT (Methylmalonyl-CoA Mutase), and among its related pathways/superpathways are Diseases of metabolism and Cobalamin (Cbl, vitamin B12) transport and metabolism. Affiliated tissues include pancreas, globus pallidus and kidney, and related phenotypes are failure to thrive and nausea and vomiting

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.

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) (Updated 05-Apr-2021)

UniProtKB/Swiss-Prot : 72 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.

Wikipedia : 73 Methylmalonyl-CoA mutase (MCM), mitochondrial, also known as methylmalonyl-CoA isomerase, is a protein... more...

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

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...

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

58 31 (show top 50) (show all 54)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 failure to thrive 58 31 hallmark (90%) Very frequent (99-80%) HP:0001508
2 nausea and vomiting 58 31 hallmark (90%) Very frequent (99-80%),Frequent (79-30%),Very frequent (99-80%) HP:0002017
3 respiratory insufficiency 58 31 hallmark (90%) Very frequent (99-80%) HP:0002093
4 dehydration 58 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0001944
5 growth delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001510
6 anorexia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002039
7 hyperammonemia 58 31 occasional (7.5%) Occasional (29-5%),Very frequent (99-80%),Occasional (29-5%) HP:0001987
8 lethargy 58 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%),Very frequent (99-80%) HP:0001254
9 coma 58 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%),Very frequent (99-80%) HP:0001259
10 respiratory distress 58 31 frequent (33%) Very frequent (99-80%),Frequent (79-30%) HP:0002098
11 intellectual disability 58 31 frequent (33%) Frequent (79-30%),Frequent (79-30%),Frequent (79-30%) HP:0001249
12 dysarthria 58 31 frequent (33%) Frequent (79-30%) HP:0001260
13 global developmental delay 58 31 frequent (33%) Frequent (79-30%),Frequent (79-30%),Frequent (79-30%) HP:0001263
14 splenomegaly 58 31 frequent (33%) Frequent (79-30%) HP:0001744
15 hepatomegaly 58 31 frequent (33%) Frequent (79-30%),Occasional (29-5%),Frequent (79-30%) HP:0002240
16 immunodeficiency 58 31 occasional (7.5%) Occasional (29-5%),Frequent (79-30%) HP:0002721
17 thrombocytopenia 58 31 frequent (33%) Frequent (79-30%),Occasional (29-5%),Frequent (79-30%) HP:0001873
18 dystonia 58 31 occasional (7.5%) Frequent (79-30%),Occasional (29-5%) HP:0001332
19 feeding difficulties 58 31 frequent (33%) Frequent (79-30%) HP:0011968
20 leukopenia 58 31 frequent (33%) Frequent (79-30%) HP:0001882
21 hypotonia 31 frequent (33%) HP:0001252
22 neurological speech impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0002167
23 ataxia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001251
24 optic atrophy 58 31 occasional (7.5%) Occasional (29-5%),Occasional (29-5%),Occasional (29-5%) HP:0000648
25 renal tubular dysfunction 58 31 occasional (7.5%) Occasional (29-5%) HP:0000124
26 renal insufficiency 58 31 occasional (7.5%) Occasional (29-5%),Occasional (29-5%),Occasional (29-5%) HP:0000083
27 anemia 58 31 occasional (7.5%) Occasional (29-5%),Occasional (29-5%),Occasional (29-5%) HP:0001903
28 hemiplegia/hemiparesis 58 31 occasional (7.5%) Occasional (29-5%) HP:0004374
29 abdominal pain 58 31 occasional (7.5%) Occasional (29-5%) HP:0002027
30 stroke 58 31 occasional (7.5%) Occasional (29-5%) HP:0001297
31 neutropenia 58 31 occasional (7.5%) Occasional (29-5%),Occasional (29-5%) HP:0001875
32 sepsis 58 31 occasional (7.5%) Occasional (29-5%) HP:0100806
33 cardiomyopathy 58 31 occasional (7.5%) Occasional (29-5%),Occasional (29-5%) HP:0001638
34 choreoathetosis 58 31 occasional (7.5%) Occasional (29-5%),Occasional (29-5%),Occasional (29-5%) HP:0001266
35 tetraparesis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002273
36 pancreatitis 58 31 occasional (7.5%) Occasional (29-5%),Occasional (29-5%),Occasional (29-5%) HP:0001733
37 macrocytic anemia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001972
38 paraparesis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002385
39 cerebellar hemorrhage 31 occasional (7.5%) HP:0011695
40 seizure 31 occasional (7.5%) HP:0001250
41 seizures 58 Occasional (29-5%),Occasional (29-5%)
42 muscular hypotonia 58 Frequent (79-30%),Frequent (79-30%),Frequent (79-30%)
43 chorea 58 Occasional (29-5%)
44 vomiting 31 HP:0002013
45 abnormality of movement 58 Occasional (29-5%)
46 metabolic ketoacidosis 31 HP:0005979
47 methylmalonic aciduria 31 HP:0012120
48 generalized hypotonia 31 HP:0001290
49 tubulointerstitial nephritis 31 HP:0001970
50 methylmalonic acidemia 31 HP:0002912

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Growth Weight:
failure to thrive

Metabolic Features:
dehydration
neonatal or infantile metabolic ketoacidosis

Laboratory Abnormalities:
hyperammonemia
metabolic ketoacidosis
hyperglycinemia
normal serum cobalamin
methymalonicaciduria
more
Cardiovascular Heart:
cardiomyopathy

Abdomen Gastrointestinal:
recurrent episodes of vomiting

Abdomen Liver:
hepatomegaly

Hematology:
thrombocytopenia
leukopenia

Neurologic Central Nervous System:
lethargy
coma
hypotonia
developmental delay
cerebellar hemorrhage (rare)
more
Abdomen Pancreas:
pancreatitis

Genitourinary Kidneys:
chronic renal failure
interstitial nephritis

Clinical features from OMIM®:

251000 (Updated 05-Apr-2021)

MGI Mouse Phenotypes related to Methylmalonic Aciduria Due to Methylmalonyl-Coa Mutase Deficiency:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 digestive/alimentary MP:0005381 9.13 MAN2B1 MMACHC MMUT
2 renal/urinary system MP:0005367 8.8 MAN2B1 MMACHC MMUT

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

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Global, Phase 1/2, Open Label, Dose Escalation Study to Evaluate the Safety, Pharmacodynamics, and Pharmacokinetics of mRNA-3704 in Patients With Isolated Methylmalonic Acidemia Due to Methylmalonyl-CoA Mutase Deficiency Withdrawn NCT03810690 Phase 1, Phase 2

Search 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 MMUT
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:

40
Pancreas, Globus Pallidus, Kidney, Brain, Liver

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

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

(show top 50) (show all 110)
# Title Authors PMID Year
1
Novel mutations in a Thai patient with methylmalonic acidemia. 6 57
12948746 2003
2
N219Y, a new frequent mutation among mut(degree) forms of methylmalonic acidemia in Caucasian patients. 57 6
11528502 2001
3
Cloning and expression of a mutant methylmalonyl coenzyme A mutase with altered cobalamin affinity that causes mut- methylmalonic aciduria. 57 6
1346616 1992
4
Heterozygous mutations at the mut locus in fibroblasts with mut0 methylmalonic acidemia identified by polymerase-chain-reaction cDNA cloning. 57 6
1977311 1990
5
Mutation eliminating mitochondrial leader sequence of methylmalonyl-CoA mutase causes muto methylmalonic acidemia. 57 6
1970180 1990
6
Benign methylmalonic aciduria. 57 61
6148691 1984
7
Autozygosity mapping of methylmalonic acidemia associated genes by short tandem repeat markers facilitates the identification of five novel mutations in an Iranian patient cohort. 6
30022420 2018
8
New in vitro model derived from brain-specific Mut-/- mice confirms cerebral ammonium accumulation in methylmalonic aciduria. 57
29934063 2018
9
Mutation Analyses in Selected Exons of the MUT Gene in Indian Patients with Methylmalonic Acidemia. 6
28811685 2017
10
Targeted exome sequencing for the identification of complementation groups in methylmalonic aciduria: A south Indian experience. 6
27591164 2017
11
A Population-Based Genomic Study of Inherited Metabolic Diseases Detected Through Newborn Screening. 6
27578510 2016
12
[Gene mutation analysis and prenatal diagnosis of four pedigrees with methymalonic aciduria]. 6
27751223 2016
13
Clinical experience with N-carbamylglutamate in a single-centre cohort of patients with propionic and methylmalonic aciduria. 6
27489777 2016
14
Next generation sequencing of patients with mut methylmalonic aciduria: Validation of somatic cell studies and identification of 16 novel mutations. 6
27233228 2016
15
Molecular Genetic Characterization of 151 Mut-Type Methylmalonic Aciduria Patients and Identification of 41 Novel Mutations in MUT. 6
27167370 2016
16
Neutralizing Antibodies Against Adeno-Associated Viral Capsids in Patients with mut Methylmalonic Acidemia. 6
26790480 2016
17
A critical reappraisal of dietary practices in methylmalonic acidemia raises concerns about the safety of medical foods. Part 1: isolated methylmalonic acidemias. 6
26270765 2016
18
Molecular, biochemical, and structural analysis of a novel mutation in patients with methylmalonyl-CoA mutase deficiency. 6
26449400 2016
19
Functional Analysis of A Novel Splicing Mutation in The Mutase Gene of Two Unrelated Pedigrees. 6
27602322 2016
20
Spectrum of Mutations in 60 Saudi Patients with Mut Methylmalonic Acidemia. 6
26615597 2016
21
Molecular and biochemical alterations in tubular epithelial cells of patients with isolated methylmalonic aciduria. 6
26420839 2015
22
Clinical features and MUT gene mutation spectrum in Chinese patients with isolated methylmalonic acidemia: identification of ten novel allelic variants. 6
26454439 2015
23
[Acute brainstem encephalitis and myelitis in a girl with isolated methylmalonic aciduria due to MUT gene defect]. 6
26483233 2015
24
Delineating the spectrum of impairments, disabilities, and rehabilitation needs in methylmalonic acidemia (MMA). 6
25959030 2015
25
Mutation analysis of methylmalonyl CoA mutase gene exon 2 in Egyptian families: Identification of 25 novel allelic variants. 6
25750861 2015
26
RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 6
25525159 2015
27
Functional characterization and categorization of missense mutations that cause methylmalonyl-CoA mutase (MUT) deficiency. 6
25125334 2014
28
Methylmalonic acidemia: a megamitochondrial disorder affecting the kidney. 6
24865477 2014
29
Mutation analysis and prenatal diagnosis for three families affected by isolated methylmalonic aciduria. 6
25299208 2014
30
Prevention of metabolic decompensation in an infant with mutase deficient methylmalonic aciduria undergoing cardiopulmonary bypass. 6
24464670 2014
31
Asymptomatic methylmalonic acidemia in a homozygous MUT mutation (p.P86L). 6
24330302 2013
32
Renal growth in isolated methylmalonic acidemia. 57
23639900 2013
33
Long-term neurological outcome of a cohort of 80 patients with classical organic acidurias. 6
24059531 2013
34
Novel c.2216T > C (p.I739T) mutation in exon 13 and c.1481T > A (p.L494X) mutation in exon 8 of MUT gene in a female with methylmalonic acidemia. 6
23479330 2013
35
Genetic diagnosis of one family with incomplete clinical data. 6
23729607 2013
36
Clinical and molecular findings in Thai patients with isolated methylmalonic acidemia. 6
22695176 2012
37
Microarray based mutational analysis of patients with methylmalonic acidemia: identification of 10 novel mutations. 6
22727635 2012
38
Neurocognitive phenotype of isolated methylmalonic acidemia. 6
22614770 2012
39
[Mutation analysis of the methylmalonyl-CoA mutase gene in ten Mexican patients with methylmalonic acidemia]. 6
23045948 2012
40
Mutation Profile of the MUT Gene in Chinese Methylmalonic Aciduria Patients. 6
23430940 2012
41
Development of transgenic mice containing an introduced stop codon on the human methylmalonyl-CoA mutase locus. 6
23024777 2012
42
Variable dietary management of methylmalonic acidemia: metabolic and energetic correlations. 6
21048060 2011
43
The molecular landscape of propionic acidemia and methylmalonic aciduria in Latin America. 6
20549364 2010
44
Inherited metabolic disorders and stroke part 2: homocystinuria, organic acidurias, and urea cycle disorders. 57
20142522 2010
45
A G-protein editor gates coenzyme B12 loading and is corrupted in methylmalonic aciduria. 6
19955418 2009
46
Pseudoexon exclusion by antisense therapy in methylmalonic aciduria (MMAuria). 6
19862841 2009
47
Long-term outcome in methylmalonic aciduria: a series of 30 French patients. 6
19375370 2009
48
Mitochondrial dysfunction in mut methylmalonic acidemia. 6
19088183 2009
49
Methylmalonic acidaemia: examination of genotype and biochemical data in 32 patients belonging to mut, cblA or cblB complementation group. 6
17957493 2008
50
Propionic and methylmalonic acidemia: antisense therapeutics for intronic variations causing aberrantly spliced messenger RNA. 6
17966092 2007

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

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

6 (show top 50) (show all 357)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 MMUT MUT, 2-BP DEL, 769CA Deletion Pathogenic 1883 GRCh37:
GRCh38:
2 MMUT MUT, IVS11, C-A, -891 SNV Pathogenic 1889 GRCh37:
GRCh38:
3 MMUT MUT, 1808G-A SNV Pathogenic 1890 GRCh37:
GRCh38:
4 MMUT NM_000255.4(MMUT):c.1130C>A (p.Ala377Glu) SNV Pathogenic 1879 rs121918250 GRCh37: 6:49419381-49419381
GRCh38: 6:49451668-49451668
5 MMUT NM_000255.4(MMUT):c.2107G>C (p.Gly703Arg) SNV Pathogenic 1885 rs121918255 GRCh37: 6:49403186-49403186
GRCh38: 6:49435473-49435473
6 MMUT NM_000255.4(MMUT):c.349G>T (p.Glu117Ter) SNV Pathogenic 1882 rs121918253 GRCh37: 6:49426831-49426831
GRCh38: 6:49459118-49459118
7 MMUT NM_000255.4(MMUT):c.643G>A (p.Gly215Ser) SNV Pathogenic 1888 rs121918258 GRCh37: 6:49425514-49425514
GRCh38: 6:49457801-49457801
8 MMUT NM_000255.4(MMUT):c.1553T>C (p.Leu518Pro) SNV Pathogenic 218994 rs864309738 GRCh37: 6:49415390-49415390
GRCh38: 6:49447677-49447677
9 MMUT NM_000255.4(MMUT):c.299A>G (p.Tyr100Cys) SNV Pathogenic 218991 rs864309735 GRCh37: 6:49426881-49426881
GRCh38: 6:49459168-49459168
10 MMUT NM_000255.4(MMUT):c.935G>T (p.Gly312Val) SNV Pathogenic 218988 rs864309734 GRCh37: 6:49421446-49421446
GRCh38: 6:49453733-49453733
11 MMUT NM_000255.4(MMUT):c.691T>A (p.Tyr231Asn) SNV Pathogenic 218992 rs864309736 GRCh37: 6:49425466-49425466
GRCh38: 6:49457753-49457753
12 MMUT NM_000255.4(MMUT):c.284C>G (p.Pro95Arg) SNV Pathogenic 218985 rs190834116 GRCh37: 6:49426896-49426896
GRCh38: 6:49459183-49459183
13 MMUT NM_000255.4(MMUT):c.2054T>G (p.Leu685Arg) SNV Pathogenic 218995 rs864309739 GRCh37: 6:49403239-49403239
GRCh38: 6:49435526-49435526
14 MMUT NM_000255.4(MMUT):c.521T>C (p.Phe174Ser) SNV Pathogenic 218986 rs864309733 GRCh37: 6:49425636-49425636
GRCh38: 6:49457923-49457923
15 MMUT NM_000255.4(MMUT):c.643G>A (p.Gly215Ser) SNV Pathogenic 1888 rs121918258 GRCh37: 6:49425514-49425514
GRCh38: 6:49457801-49457801
16 MMUT NM_000255.4(MMUT):c.1097A>G (p.Asn366Ser) SNV Pathogenic 218993 rs864309737 GRCh37: 6:49419414-49419414
GRCh38: 6:49451701-49451701
17 MMUT NM_000255.4(MMUT):c.630del (p.Glu211fs) Deletion Pathogenic 222917 rs879253832 GRCh37: 6:49425527-49425527
GRCh38: 6:49457814-49457814
18 MMUT NM_000255.4(MMUT):c.2078del (p.Gly693fs) Deletion Pathogenic 222940 rs879253849 GRCh37: 6:49403215-49403215
GRCh38: 6:49435502-49435502
19 MMUT NM_000255.4(MMUT):c.1853T>C (p.Leu618Pro) SNV Pathogenic 222937 rs879253846 GRCh37: 6:49408022-49408022
GRCh38: 6:49440309-49440309
20 MMUT NM_000255.4(MMUT):c.693C>G (p.Tyr231Ter) SNV Pathogenic 222920 rs879253834 GRCh37: 6:49425464-49425464
GRCh38: 6:49457751-49457751
21 MMUT NM_000255.4(MMUT):c.560C>G (p.Thr187Ser) SNV Pathogenic 222914 rs879253830 GRCh37: 6:49425597-49425597
GRCh38: 6:49457884-49457884
22 MMUT NM_000255.4(MMUT):c.977G>A (p.Arg326Lys) SNV Pathogenic 222926 rs758577372 GRCh37: 6:49421404-49421404
GRCh38: 6:49453691-49453691
23 MMUT NM_000255.4(MMUT):c.55dup (p.Val19fs) Duplication Pathogenic 222906 rs879253823 GRCh37: 6:49427124-49427125
GRCh38: 6:49459411-49459412
24 MMUT NM_000255.4(MMUT):c.851G>A (p.Gly284Glu) SNV Pathogenic 222923 rs879253835 GRCh37: 6:49423853-49423853
GRCh38: 6:49456140-49456140
25 MMUT NM_000255.4(MMUT):c.2T>C (p.Met1Thr) SNV Pathogenic 222903 rs879253820 GRCh37: 6:49427178-49427178
GRCh38: 6:49459465-49459465
26 MMUT NM_000255.4(MMUT):c.330T>G (p.Tyr110Ter) SNV Pathogenic 222909 rs879253826 GRCh37: 6:49426850-49426850
GRCh38: 6:49459137-49459137
27 MMUT NM_000255.4(MMUT):c.1277G>A (p.Gly426Glu) SNV Pathogenic 222932 rs533755473 GRCh37: 6:49419234-49419234
GRCh38: 6:49451521-49451521
28 MMUT NM_000255.4(MMUT):c.566A>T (p.Asn189Ile) SNV Pathogenic 222915 rs200908035 GRCh37: 6:49425591-49425591
GRCh38: 6:49457878-49457878
29 MMUT NM_000255.4(MMUT):c.1164T>A (p.Asn388Lys) SNV Pathogenic 222929 rs879253840 GRCh37: 6:49419347-49419347
GRCh38: 6:49451634-49451634
30 MMUT NM_000255.4(MMUT):c.415G>A (p.Asp139Asn) SNV Pathogenic 222912 rs879253829 GRCh37: 6:49425742-49425742
GRCh38: 6:49458029-49458029
31 MMUT NM_000255.4(MMUT):c.1655C>T (p.Ala552Val) SNV Pathogenic 222935 rs879253845 GRCh37: 6:49412373-49412373
GRCh38: 6:49444660-49444660
32 MMUT NM_000255.4(MMUT):c.2193_2196dup (p.Val733fs) Duplication Pathogenic 222941 rs879253850 GRCh37: 6:49399497-49399498
GRCh38: 6:49431784-49431785
33 MMUT NM_000255.4(MMUT):c.828G>C (p.Glu276Asp) SNV Pathogenic 222921 rs12175488 GRCh37: 6:49423876-49423876
GRCh38: 6:49456163-49456163
34 MMUT NM_000255.4(MMUT):c.1874A>G (p.Asp625Gly) SNV Pathogenic 222938 rs879253847 GRCh37: 6:49408001-49408001
GRCh38: 6:49440288-49440288
35 MMUT NM_000255.4(MMUT):c.689C>G (p.Thr230Arg) SNV Pathogenic 222918 rs879253833 GRCh37: 6:49425468-49425468
GRCh38: 6:49457755-49457755
36 MMUT NM_000255.4(MMUT):c.927G>A (p.Trp309Ter) SNV Pathogenic 222924 rs879253836 GRCh37: 6:49421454-49421454
GRCh38: 6:49453741-49453741
37 MMUT NM_000255.4(MMUT):c.30dup (p.Leu11fs) Duplication Pathogenic 222904 rs879253821 GRCh37: 6:49427149-49427150
GRCh38: 6:49459436-49459437
38 MMUT NM_000255.4(MMUT):c.1181dup (p.Leu394fs) Duplication Pathogenic 222930 rs879253841 GRCh37: 6:49419329-49419330
GRCh38: 6:49451616-49451617
39 MMUT NM_000255.4(MMUT):c.1084-1G>A SNV Pathogenic 222927 rs879253838 GRCh37: 6:49419428-49419428
GRCh38: 6:49451715-49451715
40 MMUT NM_000255.4(MMUT):c.378C>A (p.Asn126Lys) SNV Pathogenic 222910 rs879253827 GRCh37: 6:49426802-49426802
GRCh38: 6:49459089-49459089
41 MMUT NM_000255.4(MMUT):c.653A>G (p.Gln218Arg) SNV Pathogenic 225185 rs869320653 GRCh37: 6:49425504-49425504
GRCh38: 6:49457791-49457791
42 MMUT NM_000255.4(MMUT):c.467A>T (p.Asp156Val) SNV Pathogenic 222913 rs757000253 GRCh37: 6:49425690-49425690
GRCh38: 6:49457977-49457977
43 MMUT NM_000255.4(MMUT):c.1677_1747dup (p.Val583Aspfs) Duplication Pathogenic 222936 GRCh37:
GRCh38:
44 MMUT NM_000255.4(MMUT):c.1333-20_1333-9del Deletion Pathogenic 222933 rs879253843 GRCh37: 6:49416649-49416660
GRCh38: 6:49448936-49448947
45 MMUT NM_000255.4(MMUT):c.610_612GAA[1] (p.Glu205del) Microsatellite Pathogenic 222916 rs879253831 GRCh37: 6:49425542-49425544
GRCh38: 6:49457829-49457831
46 MMUT NM_000255.4(MMUT):c.1975C>T (p.Gln659Ter) SNV Pathogenic 222939 rs879253848 GRCh37: 6:49403318-49403318
GRCh38: 6:49435605-49435605
47 MMUT NM_000255.4(MMUT):c.850G>A (p.Gly284Arg) SNV Pathogenic 222922 rs761477436 GRCh37: 6:49423854-49423854
GRCh38: 6:49456141-49456141
48 MMUT NM_000255.4(MMUT):c.692dup (p.Tyr231Ter) Duplication Pathogenic 222919 rs747777227 GRCh37: 6:49425464-49425465
GRCh38: 6:49457751-49457752
49 MMUT NM_000255.4(MMUT):c.974G>A (p.Gly325Asp) SNV Pathogenic 222925 rs879253837 GRCh37: 6:49421407-49421407
GRCh38: 6:49453694-49453694
50 MMUT NM_000255.4(MMUT):c.397G>A (p.Gly133Arg) SNV Pathogenic 222911 rs879253828 GRCh37: 6:49425760-49425760
GRCh38: 6:49458047-49458047

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

72 (show top 50) (show all 125)
# Symbol AA change Variation ID SNP ID
1 MMUT p.Arg93His VAR_004409 rs121918251
2 MMUT p.Trp105Arg VAR_004410 rs121918249
3 MMUT p.Ala191Glu VAR_004411 rs760782399
4 MMUT p.Arg228Gln VAR_004412 rs770810987
5 MMUT p.Tyr231Asn VAR_004413 rs864309736
6 MMUT p.Gly312Val VAR_004414 rs864309734
7 MMUT p.Val368Asp VAR_004416
8 MMUT p.Arg369His VAR_004417 rs564069299
9 MMUT p.Ala377Glu VAR_004418 rs121918250
10 MMUT p.Gly623Arg VAR_004420 rs121918254
11 MMUT p.Gly626Cys VAR_004421 rs982110849
12 MMUT p.Gly630Glu VAR_004422 rs143023066
13 MMUT p.Val633Gly VAR_004423 rs200055428
14 MMUT p.Gly648Asp VAR_004424 rs766721811
15 MMUT p.Val669Glu VAR_004425 rs136047046
16 MMUT p.His678Arg VAR_004427 rs147094927
17 MMUT p.Leu685Arg VAR_004429 rs864309739
18 MMUT p.Arg694Trp VAR_004430 rs777758903
19 MMUT p.Gly703Arg VAR_004431 rs121918255
20 MMUT p.Gly717Val VAR_004432 rs121918252
21 MMUT p.Gly94Val VAR_022393 rs535411418
22 MMUT p.Arg108His VAR_022394 rs483352778
23 MMUT p.Ala137Val VAR_022395 rs941483851
24 MMUT p.Ser148Leu VAR_022396 rs130054755
25 MMUT p.Asp156Asn VAR_022397
26 MMUT p.Gly158Val VAR_022398
27 MMUT p.Phe174Ser VAR_022399 rs864309733
28 MMUT p.Gly203Arg VAR_022400 rs778702777
29 MMUT p.Gly215Ser VAR_022401 rs121918258
30 MMUT p.Gln218His VAR_022402 rs144638969
31 MMUT p.Asn219Tyr VAR_022403 rs121918256
32 MMUT p.Ser262Asn VAR_022404
33 MMUT p.Gln293Pro VAR_022405
34 MMUT p.Leu328Phe VAR_022406 rs796052002
35 MMUT p.Ala535Pro VAR_022408 rs760183775
36 MMUT p.Tyr587Cys VAR_022409
37 MMUT p.Pro615Thr VAR_022410 rs130240962
38 MMUT p.Lys621Asn VAR_022411
39 MMUT p.Gln624Arg VAR_022412 rs768521956
40 MMUT p.His627Arg VAR_022413 rs372486357
41 MMUT p.Gly637Glu VAR_022414
42 MMUT p.Phe638Ile VAR_022415
43 MMUT p.Asp640Tyr VAR_022416 rs865815395
44 MMUT p.Gly642Arg VAR_022417 rs747897332
45 MMUT p.Met700Lys VAR_022418 rs140600746
46 MMUT p.Gln109Arg VAR_023473 rs146111005
47 MMUT p.Ala324Thr VAR_023474 rs780387525
48 MMUT p.Leu328Pro VAR_023475 rs965316043
49 MMUT p.Arg616Cys VAR_023476 rs765284825
50 MMUT p.Leu617Arg VAR_023477 rs155415877

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...

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

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 8.62 MMUT MMACHC

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 cobalamin binding GO:0031419 8.62 MMUT MMACHC

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

3 CDC
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10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
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29 GTR
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57 OMIM® (Updated 05-Apr-2021)
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71 UMLS via Orphanet
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