MCID: MTH008
MIFTS: 56

Methylmalonic Acidemia

Categories: Rare diseases, Genetic diseases, Metabolic diseases

Aliases & Classifications for Methylmalonic Acidemia

MalaCards integrated aliases for Methylmalonic Acidemia:

Name: Methylmalonic Acidemia 12 72 50 24 25 29 14 69
Methylmalonic Aciduria 12 24 25 29 52 69
Methylmalonic Aciduria Cblb Type 12 50 29 69
Methylmalonic Aciduria Cbla Type 50 29 69
Methylmalonic Aciduria, Vitamin B12-Responsive, Due to Defect in Synthesis of Adenosylcobalamin, Cblb Type 12 50
Methylmalonic Acidemia, Cblb Type 12 50
Methylmalonic Aciduria, Mut Type 12 13
Mma 50 25
Methylmalonic Aciduria, Vitamin B12-Responsive, Due to Defect in Synthesis of Adenosylcobalamin, Cbla Complementation Type 50
Methylmalonic Aciduria, Vitamin B12-Responsive, Due to Defect in Synthesis of Adenosylcobalamin, Cbla 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
Vitamin B12-Responsive Methylmalonic Aciduria, Type Cblb 50
Vitamin B12-Responsive Methylmalonic Acidemia Type Cbla 50
Vitamin B12-Responsive Methylmalonic Aciduria Type Cbla 50
Vitamin B12-Responsive Methylmalonic Acidemia Type Cblb 50
Methylmalonic Acidemia, Cbla Type 12
Methylmalonic Aciduria, Cbla Type 50
Methylmalonic Aciduria, Cblb Type 50
Methylmalonic Aciduria Type Cbla 12
Methylmalonic Aciduria Type Cblb 12
Methylmalonic Acidemia Cbla Type 50
Methylmalonic Acidemia Cblb Type 50
Methylmalonic Aciduria Mut Type 12
Isolated Methylmalonic Acidemia 25
Acidemia, Methylmalonic 50
Methylmalonicaciduria 24
Mma Cbl a Type 50

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 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 phenotypes are liver/biliary system and mortality/aging

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

Related Diseases for Methylmalonic Acidemia

Diseases in the Methylmalonic Acidemia family:

Methylmalonic Acidemia Due to Transcobalamin Receptor Defect 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 80)
id Related Disease Score Top Affiliating Genes
1 methylmalonic aciduria and homocystinuria, cblc type 33.5 MMACHC MTR
2 homocystinuria 29.9 MMAA MMACHC MTHFR MTR MUT PCCA
3 methylmalonic acidemia with homocystinuria 12.5
4 methylmalonic acidemia with homocystinuria type cbld 12.3
5 vitamin b12-responsive methylmalonic acidemia 12.3
6 methylmalonic acidemia due to transcobalamin receptor defect 12.2
7 methylmalonic acidemia with homocystinuria type cblj 12.2
8 methylmalonic acidemia cb1a type 12.2
9 isolated methylmalonic acidemia 12.1
10 mmaa-related methylmalonic acidemia 11.9
11 mmab-related methylmalonic acidemia 11.9
12 mmadhc-related methylmalonic acidemia 11.9
13 mut-related methylmalonic acidemia 11.9
14 mcee-related methylmalonic acidemia 11.9
15 mental retardation, x-linked 3 11.9
16 methylmalonic aciduria and homocystinuria, cblf type 11.7
17 methylmalonic aciduria, mut(0) type 11.7
18 methylmalonic aciduria, vitamin b12-responsive, due to defect in synthesis of adenosylcobalamin, cblb complementation type 11.7
19 monoclonal mast cell activation syndrome 11.4
20 amyotrophy, monomelic 11.3
21 methylmalonic aciduria and homocystinuria, cbld type 11.2
22 methylmalonic aciduria, transient, due to transcobalamin receptor defect 11.2
23 methylmalonic aciduria, vitamin b12-responsive 11.1
24 methylmalonyl-coa epimerase deficiency 11.1
25 methylmalonyl-coenzyme a mutase deficiency 11.0
26 methylmalonic aciduria and homocystinuria, cblj type 10.9
27 combined malonic and methylmalonic aciduria 10.9
28 kat6b-related disorders 10.7 MMAB MUT
29 vulvar vestibulitis syndrome 10.7 MMAA MTR
30 homocystinuria due to mthfr deficiency 10.5 MTHFR MTR
31 neural tube defects, folate-sensitive 10.5 MTHFR MTR
32 methylmalonic aciduria and homocystinuria type cblg 10.3 MTHFR MTR TCN2
33 homologous wasting disease 10.3 MMACHC MTHFR MTR
34 hereditary nephrotic syndromes, autosomal dominant 10.3 MTHFR TCN2
35 soft palate cancer 10.2 PC PCCA
36 hyperammonemia 10.2
37 saccharopinuria 10.1 OTC PC
38 homocysteinemia 10.1
39 hyperglycemia 10.1
40 hyperostosis 10.1 MTHFR PC
41 neuropathy 10.0
42 pancytopenia 10.0
43 dystonia 10.0
44 renal tubular acidosis 10.0
45 malignant cardiac peripheral nerve sheath neoplasm 9.9 HMGCL OTC PC
46 cd19-related common variable immune deficiency 9.9 LMBRD1 MTR MUT TCN2
47 leukemia, chronic lymphocytic 3 9.9 OTC PC
48 renal cell carcinoma 9.8
49 metabolic acidosis 9.8
50 peritonitis 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, seizures, tremor

MGI Mouse Phenotypes related to Methylmalonic Acidemia:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 liver/biliary system MP:0005370 9.43 GPD2 HMGCL MUT OTC PCCA TSC2
2 mortality/aging MP:0010768 9.36 OTC PC PCCA SUCLA2 TSC2 GPD2

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
Cobalamin Nutraceutical Phase 3,Phase 2 13408-78-1 6438156
9
Methylcobalamin Experimental, Nutraceutical Phase 3,Phase 2 13422-55-4
10 Vitamin B12 Nutraceutical Phase 3,Phase 2
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
Ornithine Approved, Nutraceutical Phase 2 70-26-8, 3184-13-2 6262 389
15
Glutamic Acid Approved, Nutraceutical Phase 2 56-86-0 33032
16 Antioxidants Phase 2
17 Hematinics Phase 2
18 Micronutrients Phase 2
19 Trace Elements Phase 2
20 Ubiquinone Phase 2
21 Folate Nutraceutical Phase 2
22 Vitamin B9 Nutraceutical Phase 2

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Carglumic Acid in Methylmalonic Acidemia and Propionic Acidemia Active, not recruiting NCT02426775 Phase 3 Carglumic Acid
2 EPI-743 in Cobalamin C Defect: Effects on Visual and Neurological Impairment Completed NCT01793090 Phase 2 Epi-743
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 Carbaglu;Placebo;Standard of Care Treatment
5 Ataluren for Nonsense Mutation Methylmalonic Acidemia Suspended NCT01141075 Phase 2 Ataluren (PTC124)
6 Long-term Outcome of N-Carbamylglutamate Treatment in Propionic Acidemia and Methylmalonic Acidemia Terminated NCT01597440 Phase 2 N-carbamylglutamate
7 Increasing Ureagenesis in Inborn Errors of Metabolism With N-Carbamylglutamate Withdrawn NCT01341379 Phase 2 N-carbamylglutamate
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 Suspended 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 Cbla Type 29
3 Methylmalonic Aciduria Cblb Type 29
4 Methylmalonic Aciduria 29

Anatomical Context for Methylmalonic Acidemia

MalaCards organs/tissues related to Methylmalonic Acidemia:

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

Publications for Methylmalonic Acidemia

Articles related to Methylmalonic Acidemia:

(show top 50) (show all 237)
id Title Authors Year
1
Mutation Analyses in Selected Exons of the MUT Gene in Indian Patients with Methylmalonic Acidemia. ( 28811685 )
2017
2
Combined methylmalonic acidemia and homocysteinemia presenting predominantly with late-onset diffuse lung disease: a case series of four patients. ( 28327205 )
2017
3
Acute Illness Protocol for Organic Acidemias: Methylmalonic Acidemia and Propionic Acidemia. ( 28141776 )
2017
4
Isolated methylmalonic acidemia: a case report. ( 27492701 )
2016
5
Isolated methylmalonic acidemia with unusual presentation mimicking diabetic ketoacidosis. ( 26581066 )
2016
6
Pulmonary artery hypertension in methylmalonic acidemia. ( 27804229 )
2016
7
Juvenile gout in methylmalonic acidemia. ( 26952825 )
2016
8
Neutralizing Antibodies Against Adeno-Associated Viral Capsids in Patients with mut Methylmalonic Acidemia. ( 26790480 )
2016
9
The proteome of methylmalonic acidemia (MMA): the elucidation of altered pathways in patient livers. ( 26672496 )
2016
10
Development and Validation of a GC-FID Method for Diagnosis of Methylmalonic Acidemia. ( 27536704 )
2016
11
Identification of a novel deletion in the MMAA gene in two Iranian siblings with vitamin B12-responsive methylmalonic acidemia. ( 28536607 )
2016
12
Methylmalonic Acidemia Diagnosis by Laboratory Methods. ( 28070528 )
2016
13
Spectrum of ocular manifestations in cobalamin C and cobalamin A types of methylmalonic acidemia. ( 26979128 )
2016
14
Improvement in the prognosis and development of patients with methylmalonic acidemia after living donor liver transplant. ( 27670840 )
2016
15
[Identification of two novel mutations of MUT gene in a Chinese family affected with isolated methylmalonic acidemia]. ( 27060300 )
2016
16
Perioperative management of living-donor liver transplantation for methylmalonic acidemia. ( 27221384 )
2016
17
Renal cell carcinoma harboring somatic TSC2 mutations in a child with methylmalonic acidemia. ( 27748010 )
2016
18
Liver transplantation in severe methylmalonic acidemia: The sooner, the better. ( 26362094 )
2015
19
Prenatal identification of a novel mutation causing methylmalonic acidemia in a family without proband. ( 26174677 )
2015
20
Delineating the spectrum of impairments, disabilities, and rehabilitation needs in methylmalonic acidemia (MMA). ( 25959030 )
2015
21
Methylmalonic acidemia mimicking diabetic ketoacidosis and septic shock in infants. ( 25810618 )
2015
22
Methylmalonic Acidemia. ( 26101005 )
2015
23
Analysis of Novel Mutations and Methylmalonyl-CoA Mutase Levels in Thai Patients with Isolated Methylmalonic Acidemia. ( 26370686 )
2015
24
Spectrum of mutations in 60 Saudi patients with Mut methylmalonic acidemia. ( 26615597 )
2015
25
A critical reappraisal of dietary practices in methylmalonic acidemia raises concerns about the safety of medical foods. Part 2: cobalamin C deficiency. ( 26270766 )
2015
26
Clinical features and MUT gene mutation spectrum in Chinese patients with isolated methylmalonic acidemia: identification of ten novel allelic variants. ( 26454439 )
2015
27
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
28
Successful Domino Liver Transplantation from a Patient with Methylmalonic Acidemia. ( 26219882 )
2015
29
Impaired Health-Related Quality of Life in Children and Families Affected by Methylmalonic Acidemia. ( 26667650 )
2015
30
Methylmalonic acidemia and diabetic ketoacidosis: An unusual association. ( 25983442 )
2015
31
Liver or Combined Liver-Kidney Transplantation for Patients with Isolated Methylmalonic Acidemia: Who and When? ( 25882873 )
2015
32
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
33
Treatment of Methylmalonic Acidemia by Liver or Combined Liver-Kidney Transplantation. ( 25771389 )
2015
34
Early Liver Transplantation for Neonatal-Onset Methylmalonic Acidemia. ( 26077484 )
2015
35
Insights into the molecular mechanisms of methylmalonic acidemia using microarray technology. ( 26309541 )
2015
36
A critical reappraisal of dietary practices in methylmalonic acidemia raises concerns about the safety of medical foods. Part 1: isolated methylmalonic acidemias. ( 26270765 )
2015
37
Optic neuropathy in methylmalonic acidemia and propionic acidemia. ( 26209586 )
2015
38
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
39
Methylmalonic acidemia with emergency hypertension. ( 26522662 )
2015
40
Pancytopenia in a patient with methylmalonic acidemia. ( 25927084 )
2015
41
Methylmalonic acidemia (MMA) in pregnancy: a case series and literature review. ( 25567501 )
2015
42
Methylmalonic acidemia presenting as persistent pulmonary hypertension of the newborn. ( 25322992 )
2014
43
Abnormal hepatocellular mitochondria in methylmalonic acidemia. ( 24933007 )
2014
44
A Primary Study on Down-Regulated miR-9-1 and Its Biological Significances in Methylmalonic Acidemia. ( 24390963 )
2014
45
MRI Characteristics of Globus Pallidus Infarcts in Isolated Methylmalonic Acidemia. ( 25190203 )
2014
46
MicroRNA-9 regulates neural apoptosis in methylmalonic acidemia via targeting BCL2L11. ( 24798023 )
2014
47
Globus pallidus involvement as initial presentation of methylmalonic acidemia. ( 24753033 )
2014
48
Methylmalonic acidemia with homocystinuria. A very rare cause of kidney failure in the neonatal period. ( 25036075 )
2014
49
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
50
Noninvasive prenatal diagnosis in a fetus at risk for methylmalonic acidemia. ( 24406457 )
2014

Variations for Methylmalonic Acidemia

ClinVar genetic disease variations for Methylmalonic Acidemia:

6 (show top 50) (show all 114)
id 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.313T> C (p.Trp105Arg) single nucleotide variant Pathogenic rs121918249 GRCh37 Chromosome 6, 49426867: 49426867
3 MUT NM_000255.3(MUT): c.278G> A (p.Arg93His) single nucleotide variant Pathogenic rs121918251 GRCh37 Chromosome 6, 49426902: 49426902
4 MUT NM_000255.3(MUT): c.2150G> T (p.Gly717Val) single nucleotide variant Pathogenic rs121918252 GRCh37 Chromosome 6, 49399544: 49399544
5 MUT NM_000255.3(MUT): c.349G> T (p.Glu117Ter) single nucleotide variant Pathogenic rs121918253 GRCh37 Chromosome 6, 49426831: 49426831
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 MMAA MMAA, 8-BP INS, NT260 insertion Pathogenic
11 MMAB NM_052845.3(MMAB): c.556C> T (p.Arg186Trp) single nucleotide variant Pathogenic rs28941784 GRCh37 Chromosome 12, 109998873: 109998873
12 MMAB MMAB, IVS3, G-A, -1 single nucleotide variant Pathogenic
13 MMAB MMAB, 5-BP DEL, NT572 deletion Pathogenic
14 MMAA MMAA, 4-BP DEL, 592ACTG deletion 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 GRCh38 Chromosome 4, 145646016: 145646019
24 MMAA NM_172250.2(MMAA): c.988C> T (p.Arg330Ter) single nucleotide variant Pathogenic rs571038432 GRCh37 Chromosome 4, 146576317: 146576317
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.1106G> A (p.Arg369His) single nucleotide variant Pathogenic rs564069299 GRCh37 Chromosome 6, 49419405: 49419405
27 MUT NM_000255.3(MUT): c.890C> T (p.Thr297Ile) single nucleotide variant Pathogenic rs547709692 GRCh37 Chromosome 6, 49423814: 49423814
28 MUT NM_000255.3(MUT): c.572C> A (p.Ala191Glu) single nucleotide variant Pathogenic rs760782399 GRCh38 Chromosome 6, 49457872: 49457872
29 MMAB NM_052845.3(MMAB): c.700C> T (p.Gln234Ter) single nucleotide variant Pathogenic rs369296618 GRCh37 Chromosome 12, 109994886: 109994886
30 MMAB NM_052845.3(MMAB): c.569G> A (p.Arg190His) single nucleotide variant Pathogenic rs756414548 GRCh38 Chromosome 12, 109561055: 109561055
31 MMAB NM_052845.3(MMAB): c.520_584del65 single nucleotide variant Pathogenic rs756195708 GRCh38 Chromosome 12, 109561040: 109561040
32 MMAB NM_052845.3(MMAB): c.287T> C (p.Ile96Thr) single nucleotide variant Pathogenic rs864309509 GRCh37 Chromosome 12, 110006578: 110006578
33 MMAB NM_052845.3(MMAB): c.571C> T (p.Arg191Trp) single nucleotide variant Pathogenic rs376128990 GRCh38 Chromosome 12, 109561053: 109561053
34 MMAB NM_052845.3(MMAB): c.349_354delATCCAG single nucleotide variant Pathogenic rs864309510 GRCh38 Chromosome 12, 109561853: 109561853
35 MMAB NM_052845.3(MMAB): c.197_290del94 single nucleotide variant Pathogenic rs864309511 GRCh38 Chromosome 12, 109568770: 109568770
36 MMAB NM_052845.3(MMAB): c.570_572dupCCG (p.Arg191_Ala192insArg) duplication Pathogenic rs864309512 GRCh37 Chromosome 12, 109998857: 109998859
37 MMAB NM_052845.3(MMAB): c.548A> T (p.His183Leu) single nucleotide variant Pathogenic rs752866643 GRCh37 Chromosome 12, 109998881: 109998881
38 MMAA NM_172250.2(MMAA): c.64C> T (p.Arg22Ter) single nucleotide variant Pathogenic rs765799472 GRCh38 Chromosome 4, 145639203: 145639203
39 MMAA NM_172250.2(MMAA): c.161G> A (p.Trp54Ter) single nucleotide variant Pathogenic rs864309725 GRCh38 Chromosome 4, 145639300: 145639300
40 MMAA NM_172250.2(MMAA): c.266T> C (p.Leu89Pro) single nucleotide variant Pathogenic rs864309726 GRCh38 Chromosome 4, 145639405: 145639405
41 MMAA NM_172250.2(MMAA): c.358C> T (p.Gln120Ter) single nucleotide variant Pathogenic rs864309727 GRCh38 Chromosome 4, 145639497: 145639497
42 MMAA NM_172250.2(MMAA): c.397C> T (p.Gln133Ter) single nucleotide variant Pathogenic rs754545360 GRCh38 Chromosome 4, 145639536: 145639536
43 MMAA NM_172250.2(MMAA): c.503delC (p.Thr168Metfs) deletion Pathogenic rs864309728 GRCh38 Chromosome 4, 145642426: 145642426
44 MMAA NM_172250.2(MMAA): c.562G> C (p.Gly188Arg) single nucleotide variant Pathogenic rs864309729 GRCh38 Chromosome 4, 145642485: 145642485
45 MMAA NM_172250.2(MMAA): c.650T> A (p.Leu217Ter) single nucleotide variant Pathogenic rs140356252 GRCh37 Chromosome 4, 146567225: 146567225
46 MMAA NM_172250.2(MMAA): c.653G> A (p.Gly218Glu) single nucleotide variant Pathogenic rs864309730 GRCh37 Chromosome 4, 146567228: 146567228
47 MMAA NM_172250.2(MMAA): c.733+1G> A single nucleotide variant Pathogenic rs779939886 GRCh37 Chromosome 4, 146567309: 146567309
48 MMAA NM_172250.2(MMAA): c.1076G> A (p.Arg359Gln) single nucleotide variant Pathogenic rs864309731 GRCh38 Chromosome 4, 145655253: 145655253
49 MUT NM_000255.3(MUT): c.2179C> T (p.Arg727Ter) single nucleotide variant Pathogenic rs779990936 GRCh38 Chromosome 6, 49431802: 49431802
50 MUT NM_000255.3(MUT): c.2099T> A (p.Met700Lys) single nucleotide variant Pathogenic rs140600746 GRCh38 Chromosome 6, 49435481: 49435481

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 18)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.88 GPD2 HMGCL LMBRD1 MCEE MMAA MMAB
2
Show member pathways
13.55 MMAA MMACHC MMADHC MTR MUT PC
3
Show member pathways
12.76 GPD2 HMGCL MCEE MMAA MUT PCCA
4
Show member pathways
12.3 LMBRD1 MMAA MMAB MMACHC MMADHC MTHFR
5
Show member pathways
12.23 MCEE MTHFR MTR MUT OTC PC
6
Show member pathways
11.89 MTHFR MTR TCN2
7
Show member pathways
11.87 HMGCL MCEE MUT PCCA
8 11.76 HMGCL MUT OTC PC SUCLG1
9
Show member pathways
11.74 PC SUCLA2 SUCLG1
10
Show member pathways
11.74 MMAA MMACHC MMADHC MTR MUT PC
11
Show member pathways
11.55 MCEE MMAA MUT PCCA
12 11.27 MCEE MUT PCCA SUCLA2 SUCLG1
13 11.1 MCEE MUT PCCA
14 11.01 LMBRD1 MMACHC TCN2
15
Show member pathways
10.99 MCEE PCCA
16
Show member pathways
10.88 SUCLA2 SUCLG1
17
Show member pathways
10.62 PC PCCA
18 10.57 LMBRD1 MMAA MMAB MMACHC MMADHC MTR

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 9.77 GPD2 HMGCL MCEE MMAA MMAB MMACHC
2 mitochondrial matrix GO:0005759 9.32 HMGCL MCEE MMAA MMAB MUT OTC

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

id Name GO ID Score Top Affiliating Genes
1 metabolic process GO:0008152 9.77 MTHFR MUT PC SUCLA2 SUCLG1
2 tricarboxylic acid cycle GO:0006099 9.46 SUCLA2 SUCLG1
3 negative regulation of insulin receptor signaling pathway GO:0046627 9.43 LMBRD1 TSC2
4 biotin metabolic process GO:0006768 9.4 PC PCCA
5 cobalamin biosynthetic process GO:0009236 9.33 MMAA MMAB MMACHC
6 cobalamin transport GO:0015889 9.32 LMBRD1 TCN2
7 homocysteine metabolic process GO:0050667 9.26 MTHFR MUT
8 short-chain fatty acid catabolic process GO:0019626 9.26 MCEE MMAA MUT PCCA
9 cobalamin metabolic process GO:0009235 9.23 LMBRD1 MMAA MMAB MMACHC MMADHC MTR

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

id Name GO ID Score Top Affiliating Genes
1 ligase activity GO:0016874 9.56 PC PCCA SUCLA2 SUCLG1
2 catalytic activity GO:0003824 9.43 HMGCL MTHFR PC PCCA SUCLA2 SUCLG1
3 modified amino acid binding GO:0072341 9.4 MTHFR MUT
4 biotin carboxylase activity GO:0004075 9.37 PC PCCA
5 biotin binding GO:0009374 9.32 PC PCCA
6 succinate-CoA ligase (ADP-forming) activity GO:0004775 9.16 SUCLA2 SUCLG1
7 cobalamin binding GO:0031419 9.02 LMBRD1 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 HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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