MMA
MCID: MTH008
MIFTS: 49

Methylmalonic Acidemia (MMA) malady

Categories: Rare diseases, Genetic diseases, Metabolic diseases

Aliases & Classifications for Methylmalonic Acidemia

Aliases & Descriptions for Methylmalonic Acidemia:

Name: Methylmalonic Acidemia 12 71 50 24 25 14 69
Methylmalonic Aciduria 12 24 25 29 52 69
Methylmalonic Aciduria Cblb Type 12 69
Methylmalonic Aciduria, Mut Type 12 13
Acidemia, Methylmalonic 50 29
Mma 50 25
Methylmalonic Aciduria, Vitamin B12-Responsive, Due to Defect in Synthesis of Adenosylcobalamin, Cbla Type 12
Methylmalonic Aciduria, Vitamin B12-Responsive, Due to Defect in Synthesis of Adenosylcobalamin, Cblb Type 12
Methylmalonicaciduria, Vitamin B12-Responsive, Due to Defect in Synthesis of Adenosylcobalamin--Cbl a 12
Methylmalonicaciduria, Vitamin B12-Responsive, Due to Defect in Synthesis of Adenosylcobalamin--Cbl B 12
Methylmalonic Aciduria Due to Methylmalonyl-Coa Mutase Deficiency 12
Methylmalonicaciduria Due to Methylmalonic Coa Mutase Deficiency 12
Methylmalonic Acidemia, Cbla Type 12
Methylmalonic Acidemia, Cblb Type 12
Methylmalonic Aciduria Type Cbla 12
Methylmalonic Aciduria Type Cblb 12
Methylmalonic Aciduria Mut Type 12
Isolated Methylmalonic Acidemia 25
Methylmalonicaciduria 24

Classifications:



External Ids:

Disease Ontology 12 DOID:14749

Summaries for Methylmalonic Acidemia

NIH Rare Diseases : 50 methylmalonic acidemia is an inherited condition in which the body is unable to process certain proteins and fats properly. signs and symptoms usually appear in early infancy and vary from mild to life-threatening. affected infants can experience vomiting, dehydration, weak muscle tone (hypotonia), developmental delay, lethargy, hepatomegaly, and failure to thrive. long-term complications can include feeding problems, intellectual disability, chronic kidney disease, and pancreatitis. without treatment, this condition can lead to coma and death in some cases. mutations in the mut, mmaa, mmab, mmadhc, and mcee genes cause methylmalonic acidemia. it is inherited in an autosomal recessive fashion. methylmalonic acidemia is treated with a low-protein, high-calorie diet, certain medications, antibiotics and, in some cases, organ transplantation. last updated: 5/5/2016

MalaCards based summary : Methylmalonic Acidemia, also known as methylmalonic aciduria, is related to methylmalonic aciduria and homocystinuria, cblc type and methylmalonic acidemia with homocystinuria, and has symptoms including lethargy, vomiting and respiratory distress. An important gene associated with Methylmalonic Acidemia is MUT (Methylmalonyl-CoA Mutase), and among its related pathways/superpathways are Metabolism and HIV Life Cycle. The drugs Hydroxocobalamin and Metronidazole have been mentioned in the context of this disorder. Affiliated tissues include kidney, liver and pancreas, and related phenotype is Decreased shRNA abundance.

Disease Ontology : 12 An organic acidemia that involves an accumulation of methylmalonic acid in the blood.

Genetics Home Reference : 25 Methylmalonic acidemia is an inherited disorder in which the body is unable to process certain proteins and fats (lipids) properly. The effects of methylmalonic acidemia, which usually appear in early infancy, vary from mild to life-threatening. Affected infants can experience vomiting, dehydration, weak muscle tone (hypotonia), developmental delay, excessive tiredness (lethargy), an enlarged liver (hepatomegaly), and failure to gain weight and grow at the expected rate (failure to thrive). Long-term complications can include feeding problems, intellectual disability, chronic kidney disease, and inflammation of the pancreas (pancreatitis). Without treatment, this disorder can lead to coma and death in some cases.

Wikipedia : 71 Methylmalonic acidemia (MMA), also called methylmalonic aciduria,[help 1] is an autosomal... more...

Related Diseases for Methylmalonic Acidemia

Diseases in the Methylmalonic Acidemia family:

Mcee-Related Methylmalonic Acidemia Mmaa-Related Methylmalonic Acidemia
Mmab-Related Methylmalonic Acidemia Mmadhc-Related Methylmalonic Acidemia
Mut-Related Methylmalonic Acidemia

Diseases related to Methylmalonic Acidemia via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 72)
id Related Disease Score Top Affiliating Genes
1 methylmalonic aciduria and homocystinuria, cblc type 32.8 MMACHC MTR
2 methylmalonic acidemia with homocystinuria 12.5
3 methylmalonic acidemia with homocystinuria type cbld 12.3
4 methylmalonic acidemia cb1a type 12.2
5 isolated methylmalonic acidemia 12.1
6 vitamin b12-responsive methylmalonic acidemia 12.1
7 methylmalonic acidemia with homocystinuria type cblj 12.0
8 mmadhc-related methylmalonic acidemia 11.9
9 mut-related methylmalonic acidemia 11.9
10 mcee-related methylmalonic acidemia 11.9
11 mmaa-related methylmalonic acidemia 11.9
12 mmab-related methylmalonic acidemia 11.9
13 mental retardation, x-linked 3 11.9
14 methylmalonic aciduria, vitamin b12-responsive, due to defect in synthesis of adenosylcobalamin, cblb complementation type 11.8
15 methylmalonic aciduria due to transcobalamin receptor defect 11.8
16 methylmalonic aciduria and homocystinuria, cblf type 11.7
17 methylmalonic aciduria, mut(0) type 11.7
18 methylmalonic aciduria and homocystinuria, cbld type 11.2
19 methylmalonic aciduria, vitamin b12-responsive 11.2
20 methylmalonyl-coa epimerase deficiency 11.1
21 methylmalonyl-coenzyme a mutase deficiency 11.0
22 methylmalonic aciduria and homocystinuria, cblj type 10.9
23 combined malonic and methylmalonic aciduria 10.9
24 homocystinuria 10.3
25 hyperammonemia 10.2
26 lmna-related dilated cardiomyopathy 10.2 MMAB MUT
27 wandering spleen 10.1 MMAA MTR
28 hyperglycemia 10.1
29 houlston ironton temple syndrome 10.0 MMACHC MTR
30 renal tubular acidosis 10.0
31 neuropathy 10.0
32 homocysteinemia 10.0
33 pancytopenia 10.0
34 dystonia 10.0
35 retinitis pigmentosa 4, autosomal dominant or recessive 10.0 HMGCL MMAA MUT
36 vaginal glandular tumor 10.0 MTR TCN2
37 cdkn2a-related cutaneous malignant melanoma 9.9 MTR MUT TCN2
38 coenzyme q10 deficiency disease 9.9 MTR MUT TCN2
39 congenital intrinsic factor deficiency 9.9 MTR TCN2
40 borderline glaucoma 9.9 MMAA MMACHC MTR MUT
41 rhabdomyosarcoma 9.9 MTR TCN2
42 myosclerosis, congenital 9.9 HMGCL MTR TCN2
43 peritonitis 9.8
44 metabolic acidosis 9.8
45 renal cell carcinoma 9.8
46 generalized dystonia 9.8
47 encephalopathy 9.8
48 ptosis 9.8
49 hyperhomocysteinemia 9.8
50 proximal renal tubular acidosis 9.8

Graphical network of the top 20 diseases related to Methylmalonic Acidemia:



Diseases related to Methylmalonic Acidemia

Symptoms & Phenotypes for Methylmalonic Acidemia

UMLS symptoms related to Methylmalonic Acidemia:


lethargy, vomiting, respiratory distress

GenomeRNAi Phenotypes related to Methylmalonic Acidemia according to GeneCards Suite gene sharing:

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance GR00297-A 8.8 MMACHC MTR TCN2

Drugs & Therapeutics for Methylmalonic Acidemia

Drugs for Methylmalonic Acidemia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 22)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Hydroxocobalamin Approved Phase 3,Phase 2 13422-51-0 11953898 5460373 44475014
2
Metronidazole Approved Phase 3 443-48-1 4173
3
Cyanocobalamin Approved, Nutraceutical Phase 3,Phase 2 68-19-9 44176380
4
Biotin Approved, Nutraceutical Phase 3 58-85-5 171548
5 Vitamin B 12 Phase 3,Phase 2
6 Vitamin B Complex Phase 3,Phase 2
7 Vitamins Phase 3,Phase 2
8 Vitamin B12 Nutraceutical Phase 3,Phase 2
9
Cobalamin Nutraceutical Phase 3,Phase 2 13408-78-1 6438156
10
Methylcobalamin Experimental, Nutraceutical Phase 3,Phase 2 13422-55-4
11 carnitine Nutraceutical Phase 3
12 Vitamin B7 Nutraceutical Phase 3
13
Folic Acid Approved, Nutraceutical, Vet_approved Phase 2 59-30-3 6037
14 Ubiquinone Phase 2
15 Hematinics Phase 2
16 Trace Elements Phase 2
17 Micronutrients Phase 2
18 Antioxidants Phase 2
19
Ornithine Nutraceutical Phase 2 3184-13-2 6262 389
20 Folate Nutraceutical Phase 2
21 Vitamin B9 Nutraceutical Phase 2
22 Glutamic Acid Nutraceutical Phase 2

Interventional clinical trials:


id Name Status NCT ID Phase
1 Carglumic Acid in Methylmalonic Acidemia and Propionic Acidemia Active, not recruiting NCT02426775 Phase 3
2 EPI-743 in Cobalamin C Defect: Effects on Visual and Neurological Impairment Completed NCT01793090 Phase 2
3 Pilot Study For Hypothermia Treatment In Hyperammonemic Encephalopathy In Neonates And Very Young Infants Completed NCT01624311 Phase 2
4 Short-term Outcome of N-Carbamylglutamate in the Treatment of Acute Hyperammonemia Recruiting NCT01599286 Phase 2
5 Ataluren for Nonsense Mutation Methylmalonic Acidemia Suspended NCT01141075 Phase 2
6 Long-term Outcome of N-Carbamylglutamate Treatment in Propionic Acidemia and Methylmalonic Acidemia Terminated NCT01597440 Phase 2
7 Increasing Ureagenesis in Inborn Errors of Metabolism With N-Carbamylglutamate Withdrawn NCT01341379 Phase 2
8 Combined Malonic and Methylmalonic Aciduria (CMAMMA): Gene Identification and Outcome Study Unknown status NCT01289158
9 Clinical and Laboratory Study of Methylmalonic Acidemia Recruiting NCT00078078
10 Maternal Inborn Errors of Metabolism in Pregnancy: A Pregnancy Registry Protocol Enrolling by invitation NCT02322177

Search NIH Clinical Center for Methylmalonic Acidemia

Genetic Tests for Methylmalonic Acidemia

Genetic tests related to Methylmalonic Acidemia:

id Genetic test Affiliating Genes
1 Methylmalonic Acidemia 29 24
2 Methylmalonic Aciduria 29

Anatomical Context for Methylmalonic Acidemia

MalaCards organs/tissues related to Methylmalonic Acidemia:

39
Kidney, Liver, Pancreas, Brain, Globus Pallidus, Skin, Subthalamic Nucleus

Publications for Methylmalonic Acidemia

Articles related to Methylmalonic Acidemia:

(show top 50) (show all 233)
id Title Authors Year
1
Methylmalonic Acidemia Diagnosis by Laboratory Methods. ( 28070528 )
2016
2
Development and Validation of a GC-FID Method for Diagnosis of Methylmalonic Acidemia. ( 27536704 )
2016
3
Isolated methylmalonic acidemia with unusual presentation mimicking diabetic ketoacidosis. ( 26581066 )
2016
4
Pulmonary artery hypertension in methylmalonic acidemia. ( 27804229 )
2016
5
Improvement in the prognosis and development of patients with methylmalonic acidemia after living donor liver transplant. ( 27670840 )
2016
6
Spectrum of ocular manifestations in cobalamin C and cobalamin A types of methylmalonic acidemia. ( 26979128 )
2016
7
Perioperative management of living-donor liver transplantation for methylmalonic acidemia. ( 27221384 )
2016
8
Isolated methylmalonic acidemia: a case report. ( 27492701 )
2016
9
The proteome of methylmalonic acidemia (MMA): the elucidation of altered pathways in patient livers. ( 26672496 )
2016
10
Neutralizing Antibodies Against Adeno-Associated Viral Capsids in Patients with mut Methylmalonic Acidemia. ( 26790480 )
2016
11
[Identification of two novel mutations of MUT gene in a Chinese family affected with isolated methylmalonic acidemia]. ( 27060300 )
2016
12
Juvenile gout in methylmalonic acidemia. ( 26952825 )
2016
13
Renal cell carcinoma harboring somatic TSC2 mutations in a child with methylmalonic acidemia. ( 27748010 )
2016
14
Impaired Health-Related Quality of Life in Children and Families Affected by Methylmalonic Acidemia. ( 26667650 )
2015
15
Liver or Combined Liver-Kidney Transplantation for Patients with Isolated Methylmalonic Acidemia: Who and When? ( 25882873 )
2015
16
Methylmalonic Acidemia. ( 26101005 )
2015
17
Methylmalonic acidemia mimicking diabetic ketoacidosis and septic shock in infants. ( 25810618 )
2015
18
Early Liver Transplantation for Neonatal-Onset Methylmalonic Acidemia. ( 26077484 )
2015
19
A critical reappraisal of dietary practices in methylmalonic acidemia raises concerns about the safety of medical foods. Part 2: cobalamin C deficiency. ( 26270766 )
2015
20
Propofol administration in patients with methylmalonic acidemia and intracellular cobalamin metabolism disorders: a review of theoretical concerns and clinical experiences in 28 patients. ( 25985870 )
2015
21
Liver transplantation in severe methylmalonic acidemia: The sooner, the better. ( 26362094 )
2015
22
Treatment of Methylmalonic Acidemia by Liver or Combined Liver-Kidney Transplantation. ( 25771389 )
2015
23
Methylmalonic acidemia with emergency hypertension. ( 26522662 )
2015
24
Clinical features and MUT gene mutation spectrum in Chinese patients with isolated methylmalonic acidemia: identification of ten novel allelic variants. ( 26454439 )
2015
25
Delineating the spectrum of impairments, disabilities, and rehabilitation needs in methylmalonic acidemia (MMA). ( 25959030 )
2015
26
Insights into the molecular mechanisms of methylmalonic acidemia using microarray technology. ( 26309541 )
2015
27
A critical reappraisal of dietary practices in methylmalonic acidemia raises concerns about the safety of medical foods. Part 1: isolated methylmalonic acidemias. ( 26270765 )
2015
28
Successful Domino Liver Transplantation from a Patient with Methylmalonic Acidemia. ( 26219882 )
2015
29
Medical foods prescribed to treat methylmalonic acidemia linked with adverse outcomes for some patients: Studies explore impact of unbalanced amino acid formulation on growth, brain development. ( 26768187 )
2015
30
Spectrum of mutations in 60 Saudi patients with Mut methylmalonic acidemia. ( 26615597 )
2015
31
Methylmalonic acidemia (MMA) in pregnancy: a case series and literature review. ( 25567501 )
2015
32
Pancytopenia in a patient with methylmalonic acidemia. ( 25927084 )
2015
33
Optic neuropathy in methylmalonic acidemia and propionic acidemia. ( 26209586 )
2015
34
Analysis of Novel Mutations and Methylmalonyl-CoA Mutase Levels in Thai Patients with Isolated Methylmalonic Acidemia. ( 26370686 )
2015
35
Clinical presentation, gene analysis and outcomes in young patients with early-treated combined methylmalonic acidemia and homocysteinemia (cblC type) in Shandong province, China. ( 26563984 )
2015
36
Prenatal identification of a novel mutation causing methylmalonic acidemia in a family without proband. ( 26174677 )
2015
37
Methylmalonic acidemia and diabetic ketoacidosis: An unusual association. ( 25983442 )
2015
38
Globus pallidus involvement as initial presentation of methylmalonic acidemia. ( 24753033 )
2014
39
A detailed analysis of methylmalonic acid kinetics during hemodialysis and after combined liver/kidney transplantation in a patient with mut (0) methylmalonic acidemia. ( 24961826 )
2014
40
Methylmalonic acidemia presenting as persistent pulmonary hypertension of the newborn. ( 25322992 )
2014
41
Skin manifestation of methylmalonic acidemia; a rare case. ( 25058035 )
2014
42
MicroRNA-9 regulates neural apoptosis in methylmalonic acidemia via targeting BCL2L11. ( 24798023 )
2014
43
Noninvasive prenatal diagnosis in a fetus at risk for methylmalonic acidemia. ( 24406457 )
2014
44
Methylmalonic acidemia with homocystinuria. A very rare cause of kidney failure in the neonatal period. ( 25036075 )
2014
45
Methylmalonic acidemia: a megamitochondrial disorder affecting the kidney. ( 24865477 )
2014
46
MRI Characteristics of Globus Pallidus Infarcts in Isolated Methylmalonic Acidemia. ( 25190203 )
2014
47
A Primary Study on Down-Regulated miR-9-1 and Its Biological Significances in Methylmalonic Acidemia. ( 24390963 )
2014
48
Abnormal hepatocellular mitochondria in methylmalonic acidemia. ( 24933007 )
2014
49
Methylmalonic acidemia and hyperglycemia: an unusual association. ( 22658817 )
2013
50
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. ( 23479330 )
2013

Variations for Methylmalonic Acidemia

ClinVar genetic disease variations for Methylmalonic Acidemia:

6 (show top 50) (show all 115)
id Gene Variation Type Significance SNP ID Assembly Location
1 MUT NM_000255.3(MUT): c.349G> T (p.Glu117Ter) single nucleotide variant Pathogenic rs121918253 GRCh37 Chromosome 6, 49426831: 49426831
2 MUT NM_000255.3(MUT): c.52C> T (p.Gln18Ter) single nucleotide variant Pathogenic rs121918248 GRCh37 Chromosome 6, 49427128: 49427128
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.278G> A (p.Arg93His) single nucleotide variant Pathogenic rs121918251 GRCh37 Chromosome 6, 49426902: 49426902
5 MUT NM_000255.3(MUT): c.2150G> T (p.Gly717Val) single nucleotide variant Pathogenic rs121918252 GRCh37 Chromosome 6, 49399544: 49399544
6 MUT MUT, 2-BP DEL, 769CA deletion Pathogenic
7 MUT NM_000255.3(MUT): c.1867G> A (p.Gly623Arg) single nucleotide variant Pathogenic rs121918254 GRCh37 Chromosome 6, 49408008: 49408008
8 MUT NM_000255.3(MUT): c.655A> T (p.Asn219Tyr) single nucleotide variant Pathogenic rs121918256 GRCh37 Chromosome 6, 49425502: 49425502
9 MUT NM_000255.3(MUT): c.643G> A (p.Gly215Ser) single nucleotide variant Pathogenic rs121918258 GRCh37 Chromosome 6, 49425514: 49425514
10 MMAB NM_052845.3(MMAB): c.556C> T (p.Arg186Trp) single nucleotide variant Pathogenic rs28941784 GRCh37 Chromosome 12, 109998873: 109998873
11 MMAB MMAB, IVS3, G-A, -1 single nucleotide variant Pathogenic
12 MMAB MMAB, 5-BP DEL, NT572 deletion Pathogenic
13 MMAA MMAA, 4-BP DEL, 592ACTG deletion Pathogenic
14 MMAA MMAA, 8-BP INS, NT260 insertion Pathogenic
15 MMAA NM_172250.2(MMAA): c.283C> T (p.Gln95Ter) single nucleotide variant Pathogenic rs104893846 GRCh37 Chromosome 4, 146560574: 146560574
16 MMAA NM_172250.2(MMAA): c.620A> G (p.Tyr207Cys) single nucleotide variant Pathogenic rs104893849 GRCh37 Chromosome 4, 146567195: 146567195
17 MMAA NM_172250.2(MMAA): c.433C> T (p.Arg145Ter) single nucleotide variant Pathogenic rs104893851 GRCh37 Chromosome 4, 146560724: 146560724
18 MUT NM_000255.3(MUT): c.1445-2A> G single nucleotide variant Pathogenic rs398123276 GRCh37 Chromosome 6, 49415500: 49415500
19 MUT NM_000255.3(MUT): c.91C> T (p.Arg31Ter) single nucleotide variant Pathogenic rs398123278 GRCh37 Chromosome 6, 49427089: 49427089
20 MMAB NM_052845.3(MMAB): c.568C> T (p.Arg190Cys) single nucleotide variant Pathogenic rs398124434 GRCh37 Chromosome 12, 109998861: 109998861
21 MUT NM_000255.3(MUT): c.1207C> T (p.Arg403Ter) single nucleotide variant Pathogenic rs727504020 GRCh37 Chromosome 6, 49419304: 49419304
22 MUT NM_000255.3(MUT): c.280G> A (p.Gly94Arg) single nucleotide variant Pathogenic rs727504022 GRCh37 Chromosome 6, 49426900: 49426900
23 MMAA NM_172250.2(MMAA): c.593_596delCTGA (p.Thr198Serfs) deletion Pathogenic rs796051993 GRCh37 Chromosome 4, 146567168: 146567171
24 MMAA NM_172250.2(MMAA): c.988C> T (p.Arg330Ter) single nucleotide variant Pathogenic rs571038432 GRCh38 Chromosome 4, 145655165: 145655165
25 MUT NM_000255.3(MUT): c.1663G> A (p.Ala555Thr) single nucleotide variant Pathogenic/Likely pathogenic rs753564352 GRCh37 Chromosome 6, 49412365: 49412365
26 MUT NM_000255.3(MUT): c.1108A> C (p.Thr370Pro) single nucleotide variant Pathogenic/Likely pathogenic rs368790885 GRCh37 Chromosome 6, 49419403: 49419403
27 MUT NM_000255.3(MUT): c.1106G> A (p.Arg369His) single nucleotide variant Pathogenic rs564069299 GRCh37 Chromosome 6, 49419405: 49419405
28 MUT NM_000255.3(MUT): c.890C> T (p.Thr297Ile) single nucleotide variant Pathogenic rs547709692 GRCh38 Chromosome 6, 49456101: 49456101
29 MUT NM_000255.3(MUT): c.572C> A (p.Ala191Glu) single nucleotide variant Pathogenic rs760782399 GRCh37 Chromosome 6, 49425585: 49425585
30 MMAB NM_052845.3(MMAB): c.700C> T (p.Gln234Ter) single nucleotide variant Pathogenic rs369296618 GRCh37 Chromosome 12, 109994886: 109994886
31 MMAB NM_052845.3(MMAB): c.569G> A (p.Arg190His) single nucleotide variant Pathogenic rs756414548 GRCh38 Chromosome 12, 109561055: 109561055
32 MMAB NM_052845.3(MMAB): c.520_584del65 single nucleotide variant Pathogenic rs756195708 GRCh38 Chromosome 12, 109561040: 109561040
33 MMAB NM_052845.3(MMAB): c.287T> C (p.Ile96Thr) single nucleotide variant Pathogenic rs864309509 GRCh38 Chromosome 12, 109568773: 109568773
34 MMAB NM_052845.3(MMAB): c.571C> T (p.Arg191Trp) single nucleotide variant Pathogenic rs376128990 GRCh38 Chromosome 12, 109561053: 109561053
35 MMAB NM_052845.3(MMAB): c.349_354delATCCAG single nucleotide variant Pathogenic rs864309510 GRCh38 Chromosome 12, 109561853: 109561853
36 MMAB NM_052845.3(MMAB): c.197_290del94 single nucleotide variant Pathogenic rs864309511 GRCh38 Chromosome 12, 109568770: 109568770
37 MMAB NM_052845.3(MMAB): c.570_572dupCCG (p.Arg191_Ala192insArg) duplication Pathogenic rs864309512 GRCh38 Chromosome 12, 109561052: 109561054
38 MMAB NM_052845.3(MMAB): c.548A> T (p.His183Leu) single nucleotide variant Pathogenic rs752866643 GRCh38 Chromosome 12, 109561076: 109561076
39 MMAA NM_172250.2(MMAA): c.64C> T (p.Arg22Ter) single nucleotide variant Pathogenic rs765799472 GRCh38 Chromosome 4, 145639203: 145639203
40 MMAA NM_172250.2(MMAA): c.161G> A (p.Trp54Ter) single nucleotide variant Pathogenic rs864309725 GRCh38 Chromosome 4, 145639300: 145639300
41 MMAA NM_172250.2(MMAA): c.266T> C (p.Leu89Pro) single nucleotide variant Pathogenic rs864309726 GRCh38 Chromosome 4, 145639405: 145639405
42 MMAA NM_172250.2(MMAA): c.358C> T (p.Gln120Ter) single nucleotide variant Pathogenic rs864309727 GRCh38 Chromosome 4, 145639497: 145639497
43 MMAA NM_172250.2(MMAA): c.397C> T (p.Gln133Ter) single nucleotide variant Pathogenic rs754545360 GRCh38 Chromosome 4, 145639536: 145639536
44 MMAA NM_172250.2(MMAA): c.503delC (p.Thr168Metfs) deletion Pathogenic rs864309728 GRCh38 Chromosome 4, 145642426: 145642426
45 MMAA NM_172250.2(MMAA): c.562G> C (p.Gly188Arg) single nucleotide variant Pathogenic rs864309729 GRCh38 Chromosome 4, 145642485: 145642485
46 MMAA NM_172250.2(MMAA): c.650T> A (p.Leu217Ter) single nucleotide variant Pathogenic rs140356252 GRCh37 Chromosome 4, 146567225: 146567225
47 MMAA NM_172250.2(MMAA): c.653G> A (p.Gly218Glu) single nucleotide variant Pathogenic rs864309730 GRCh37 Chromosome 4, 146567228: 146567228
48 MMAA NM_172250.2(MMAA): c.733+1G> A single nucleotide variant Pathogenic rs779939886 GRCh37 Chromosome 4, 146567309: 146567309
49 MMAA NM_172250.2(MMAA): c.1076G> A (p.Arg359Gln) single nucleotide variant Pathogenic rs864309731 GRCh38 Chromosome 4, 145655253: 145655253
50 MUT NM_000255.3(MUT): c.2179C> T (p.Arg727Ter) single nucleotide variant Pathogenic rs779990936 GRCh38 Chromosome 6, 49431802: 49431802

Expression for Methylmalonic Acidemia

Search GEO for disease gene expression data for Methylmalonic Acidemia.

Pathways for Methylmalonic Acidemia

Pathways related to Methylmalonic Acidemia according to GeneCards Suite gene sharing:

(show all 15)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.65 ABCD4 HMGCL MCEE MMAA MMAB MMACHC
2
Show member pathways
13.38 MMAA MMACHC MMADHC MTR MUT TCN2
3
Show member pathways
12.57 HMGCL MCEE MMAA MUT
4
Show member pathways
12.17 ABCD4 MMAA MMAB MMACHC MMADHC MTR
5
Show member pathways
12.01 MCEE MTR MUT
6
Show member pathways
11.99 MCEE MMAB MTR MUT TCN2
7
Show member pathways
11.68 HMGCL MCEE MUT
8
Show member pathways
11.62 MMAA MMACHC MMADHC MTR MUT TCN2
9 11.47 ABCD4 HMGCL
10
Show member pathways
11.4 MCEE MMAA MUT
11 11.03 MCEE MUT
12 10.92 MCEE MUT
13 10.84 MMACHC TCN2
14 10.57 ABCD4 MMAA MMAB MMACHC MMADHC MTR
15
Show member pathways
9.97 MMAA MUT

GO Terms for Methylmalonic Acidemia

Cellular components related to Methylmalonic Acidemia according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 mitochondrion GO:0005739 9.5 HMGCL MCEE MMAA MMAB MMACHC MMADHC
2 mitochondrial matrix GO:0005759 9.02 HMGCL MCEE MMAA MMAB MUT

Biological processes related to Methylmalonic Acidemia according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 short-chain fatty acid catabolic process GO:0019626 9.33 MCEE MMAA MUT
2 cobalamin metabolic process GO:0009235 9.23 ABCD4 MMAA MMAB MMACHC MMADHC MTR
3 cobalamin biosynthetic process GO:0009236 9.13 MMAA MMAB MMACHC

Molecular functions related to Methylmalonic Acidemia according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 cobalamin binding GO:0031419 8.92 MMACHC MTR MUT TCN2

Sources for Methylmalonic Acidemia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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