MCID: ISL099
MIFTS: 35

Isolated Methylmalonic Acidemia

Aliases & Classifications for Isolated Methylmalonic Acidemia

MalaCards integrated aliases for Isolated Methylmalonic Acidemia:

Name: Isolated Methylmalonic Acidemia 25 6
Isolated Methylmalonic Aciduria 25
Methylmalonic Acidemia 70

External Ids:

UMLS 70 C0268583

Summaries for Isolated Methylmalonic Acidemia

MalaCards based summary : Isolated Methylmalonic Acidemia, also known as isolated methylmalonic aciduria, is related to adenosylcobalamin deficiency and methylmalonic acidemia. An important gene associated with Isolated Methylmalonic Acidemia is MMAB (Metabolism Of Cobalamin Associated B), and among its related pathways/superpathways are Metabolism and Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha). The drugs Methylcobalamin and Hydroxocobalamin have been mentioned in the context of this disorder. Affiliated tissues include liver, cortex and globus pallidus.

GeneReviews: NBK1231

Related Diseases for Isolated Methylmalonic Acidemia

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

(show all 35)
# Related Disease Score Top Affiliating Genes
1 adenosylcobalamin deficiency 30.2 MMAB MMAA
2 methylmalonic acidemia 30.1 MMUT MMADHC MMAB MMAA MCEE ACSF3
3 homocystinuria 29.6 MMUT MMADHC MMAB
4 methylmalonic aciduria, cbla type 28.8 MMUT MMADHC MMAB MMAA MCEE
5 propionic acidemia 28.5 MMUT MMADHC MMAB MMAA MCEE
6 organic acidemia 28.1 MMUT MMADHC MMAB MMAA MCEE ACSF3
7 methylmalonic aciduria due to methylmalonyl-coa mutase deficiency 10.4
8 methylmalonic aciduria, cblb type 10.4
9 carbonic anhydrase va deficiency, hyperammonemia due to 10.4
10 hypotonia 10.3
11 homocysteinemia 10.2
12 metabolic acidosis 10.2
13 lactic acidosis 10.2
14 3-methylglutaconic aciduria, type iii 10.1
15 diabetes mellitus, ketosis-prone 10.1
16 interstitial nephritis 10.1
17 pancytopenia 10.1
18 hyperglycemia 10.1
19 dystonia 10.1
20 inherited metabolic disorder 10.1
21 hypoglycemia 10.1
22 seizure disorder 10.1
23 macrocytic anemia 10.0
24 myelitis 10.0
25 encephalitis 10.0
26 methylmalonic acidemia without homocystinuria 10.0
27 isovaleric acidemia 9.9 MMUT MMAA
28 biotinidase deficiency 9.8 MMUT MMAA
29 glutaric acidemia i 9.6 MMADHC MMAA
30 combined malonic and methylmalonic aciduria 9.5 MMADHC MMAB ACSF3
31 megaloblastic anemia 9.5 MMUT MMADHC MMAA
32 maple syrup urine disease 9.4 MMUT MMADHC MMAA
33 vitamin metabolic disorder 9.3 MMUT MMADHC MMAB MMAA
34 methylmalonic aciduria and homocystinuria, cblc type 9.3 MMUT MMADHC MMAB MMAA
35 amino acid metabolic disorder 9.3 MMUT MMADHC MMAB MMAA

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



Diseases related to Isolated Methylmalonic Acidemia

Symptoms & Phenotypes for Isolated Methylmalonic Acidemia

Drugs & Therapeutics for Isolated Methylmalonic Acidemia

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

(show all 14)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Methylcobalamin Approved, Investigational Phase 3 13422-55-4
2
Hydroxocobalamin Approved Phase 3 13422-51-0 11953898 15589840
3
Metronidazole Approved Phase 3 443-48-1 4173
4
Cyanocobalamin Approved, Nutraceutical Phase 3 68-19-9 44176380
5
Biotin Approved, Investigational, Nutraceutical Phase 3 58-85-5 171548
6
Cobalamin Experimental Phase 3 13408-78-1 6857388
7 carnitine Phase 3
8 Vitamins Phase 3
9 Vitamin B Complex Phase 3
10 Vitamin B12 Phase 3
11 Vitamin B 12 Phase 3
12 Vitamin B7 Phase 3
13
Glutamic acid Approved, Nutraceutical Phase 2 56-86-0 33032
14 Pharmaceutical Solutions Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Randomized Multicentre Comparative Trial to Evaluate the Long Term Effectiveness of the Use of Carbaglu® in Patients With Propionic Acidemia (PA) or Methylmalonic Acidemia (MMA) Completed NCT02426775 Phase 3 Carglumic Acid
2 A Phase 2 Open-label, Dose Escalation Study of HST5040 in Subjects With Propionic or Methylmalonic Acidemia Followed by a Randomized, Double-blind, Placebo-controlled, 2-period Crossover Study and an Open-label, Long-term Extension Study Recruiting NCT04732429 Phase 2 HST5040;Placebo
3 A Phase 1/2 Open-label Clinical Study of hLB-001 Gene Therapy in Pediatric Patients With Methylmalonic Acidemia Characterized by MMUT Mutations Recruiting NCT04581785 Phase 1, Phase 2
4 A Phase 2 Study of Ataluren (PTC124®) as an Oral Treatment for Nonsense Mutation Methylmalonic Acidemia Terminated NCT01141075 Phase 2 Ataluren
5 Long-term Outcome of N-Carbamylglutamate Treatment in Propionic Acidemia and Methylmalonic Acidemia Terminated NCT01597440 Phase 2 N-carbamylglutamate
6 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
7 Understanding the Long-Term Management of Organic Acidemia Patients With CARBAGLU®: A Mixed Methods Approach Recruiting NCT04176523 Carglumic Acid
8 Clinical and Basic Investigations of Methylmalonic Acidemia (MMA) and Related Disorders Recruiting NCT00078078
9 A Longitudinal, Exploratory, Natural History Study to Further Characterize and Describe the Signs and Symptoms of Patients With Organic Acidemias Active, not recruiting NCT03484767
10 Evaluate the Long Term Effectiveness & Safety of the Use of Carglumic Acid (Carbaglu®) in Patients With Propionic Acidemia (PA) or Methylmalonic Acidemia (MMA). Enrolling by invitation NCT04284917 Carglumic Acid (Carbaglu®)

Search NIH Clinical Center for Isolated Methylmalonic Acidemia

Genetic Tests for Isolated Methylmalonic Acidemia

Anatomical Context for Isolated Methylmalonic Acidemia

MalaCards organs/tissues related to Isolated Methylmalonic Acidemia:

40
Liver, Cortex, Globus Pallidus, Bone Marrow, Skeletal Muscle, Eye, Cerebellum

Publications for Isolated Methylmalonic Acidemia

Articles related to Isolated Methylmalonic Acidemia:

(show top 50) (show all 738)
# Title Authors PMID Year
1
Treatment of methylmalonic acidemia by liver or combined liver-kidney transplantation. 6 25 61
25771389 2015
2
Neurocognitive phenotype of isolated methylmalonic acidemia. 6 25 61
22614770 2012
3
Variable dietary management of methylmalonic acidemia: metabolic and energetic correlations. 6 25 61
21048060 2011
4
Mutation and haplotype analyses of the MUT gene in Japanese patients with methylmalonic acidemia. 25 61 6
17075691 2007
5
Spectrum of mutations in mut methylmalonic acidemia and identification of a common Hispanic mutation and haplotype. 61 25 6
16281286 2006
6
Genetic analysis of three genes causing isolated methylmalonic acidemia: identification of 21 novel allelic variants. 61 6 25
15781192 2005
7
Mutation analysis of the MCM gene in Korean patients with MMA. 61 25 6
15781199 2005
8
Molecular basis of methylmalonyl-CoA mutase apoenzyme defect in 40 European patients affected by mut(o) and mut- forms of methylmalonic acidemia: identification of 29 novel mutations in the MUT gene. 6 25 61
15643616 2005
9
Mutation analysis of the MMAA and MMAB genes in Japanese patients with vitamin B(12)-responsive methylmalonic acidemia: identification of a prevalent MMAA mutation. 25 6 61
15308131 2004
10
N219Y, a new frequent mutation among mut(degree) forms of methylmalonic acidemia in Caucasian patients. 61 25 6
11528502 2001
11
mut0 methylmalonic acidemia: eleven novel mutations of the methylmalonyl CoA mutase including a deletion-insertion mutation. 25 6 61
10923046 2000
12
Expression and kinetic characterization of methylmalonyl-CoA mutase from patients with the mut- phenotype: evidence for naturally occurring interallelic complementation. 25 6 61
9285782 1997
13
Functional characterization and categorization of missense mutations that cause methylmalonyl-CoA mutase (MUT) deficiency. 6 25
25125334 2014
14
Methylmalonic acidaemia: examination of genotype and biochemical data in 32 patients belonging to mut, cblA or cblB complementation group. 25 6
17957493 2008
15
Mutation and biochemical analysis of 19 probands with mut0 and 13 with mut- methylmalonic aciduria: identification of seven novel mutations. 6 25
17113806 2007
16
Mutation and biochemical analysis of patients belonging to the cblB complementation class of vitamin B12-dependent methylmalonic aciduria. 25 6
16410054 2006
17
Mutations in the MMAA gene in patients with the cblA disorder of vitamin B12 metabolism. 25 6
15523652 2004
18
Identification of the gene responsible for the cblB complementation group of vitamin B12-dependent methylmalonic aciduria. 25 6
12471062 2002
19
A study on a cohort of 301 Chinese patients with isolated methylmalonic acidemia. 61 6
31622506 2020
20
Neutralizing Antibodies Against Adeno-Associated Viral Capsids in Patients with mut Methylmalonic Acidemia. 61 6
26790480 2016
21
Spectrum of Mutations in 60 Saudi Patients with Mut Methylmalonic Acidemia. 61 6
26615597 2016
22
Analysis of Novel Mutations and Methylmalonyl-CoA Mutase Levels in Thai Patients with Isolated Methylmalonic Acidemia. 61 6
26370686 2015
23
Clinical features and MUT gene mutation spectrum in Chinese patients with isolated methylmalonic acidemia: identification of ten novel allelic variants. 61 6
26454439 2015
24
Targeted metabolomics in the expanded newborn screening for inborn errors of metabolism. 61 6
25689098 2015
25
[Detection of pathogenic mutations for methylmalonic acidemia using new-generation semiconductor targeted sequencing]. 61 6
25636100 2015
26
Mutation analysis and prenatal diagnosis for three families affected by isolated methylmalonic aciduria. 61 6
25299208 2014
27
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 61
23479330 2013
28
Pregnancy in a methylmalonic acidemia patient with kidney transplantation: a case report. 61 6
23711287 2013
29
Clinical and molecular findings in Thai patients with isolated methylmalonic acidemia. 6 61
22695176 2012
30
Microarray based mutational analysis of patients with methylmalonic acidemia: identification of 10 novel mutations. 6 61
22727635 2012
31
Novel mutations in a Thai patient with methylmalonic acidemia. 61 6
12948746 2003
32
Molecular analysis of methylmalonyl-CoA mutase deficiency: identification of three missense mutations in mut0 patients. 6 61
9929975 1999
33
Protein destabilization and loss of protein-protein interaction are fundamental mechanisms in cblA-type methylmalonic aciduria. 6
28497574 2017
34
Targeted exome sequencing for the identification of complementation groups in methylmalonic aciduria: A south Indian experience. 6
27591164 2017
35
Molecular Genetic Characterization of 151 Mut-Type Methylmalonic Aciduria Patients and Identification of 41 Novel Mutations in MUT. 6
27167370 2016
36
Next generation sequencing of patients with mut methylmalonic aciduria: Validation of somatic cell studies and identification of 16 novel mutations. 6
27233228 2016
37
A critical reappraisal of dietary practices in methylmalonic acidemia raises concerns about the safety of medical foods. Part 2: cobalamin C deficiency. 61 25
26270766 2016
38
A critical reappraisal of dietary practices in methylmalonic acidemia raises concerns about the safety of medical foods. Part 1: isolated methylmalonic acidemias. 25 61
26270765 2016
39
Optic neuropathy in methylmalonic acidemia and propionic acidemia. 61 25
26209586 2016
40
Inborn Errors of Metabolism in the United Arab Emirates: Disorders Detected by Newborn Screening (2011-2014). 6
26589311 2016
41
Liver transplantation in severe methylmalonic acidemia: The sooner, the better. 25 61
26362094 2015
42
Propofol administration in patients with methylmalonic acidemia and intracellular cobalamin metabolism disorders: a review of theoretical concerns and clinical experiences in 28 patients. 61 25
25985870 2015
43
Delineating the spectrum of impairments, disabilities, and rehabilitation needs in methylmalonic acidemia (MMA). 61 25
25959030 2015
44
Methylmalonic acidemia (MMA) in pregnancy: a case series and literature review. 61 25
25567501 2015
45
Anesthesia and organic aciduria: is the use of lactated Ringer's solution absolutely contraindicated? 61 25
25943188 2015
46
Liver or combined liver-kidney transplantation for patients with isolated methylmalonic acidemia: who and when? 25 61
25882873 2015
47
Methylmalonic aciduria cblB type: characterization of two novel mutations and mitochondrial dysfunction studies. 6
24813872 2015
48
Pancytopenia in a patient with methylmalonic acidemia. 25 61
25927084 2015
49
Mutation analysis of methylmalonyl CoA mutase gene exon 2 in Egyptian families: Identification of 25 novel allelic variants. 6
25750861 2015
50
[Acute encephalopathy induced by vaccination in an infant with methylmalonic aciduria cblA]. 6
25748407 2015

Variations for Isolated Methylmalonic Acidemia

ClinVar genetic disease variations for Isolated Methylmalonic Acidemia:

6 (show top 50) (show all 188)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ACSF3 NM_001243279.3(ACSF3):c.424C>T (p.Gln142Ter) SNV Pathogenic 839825 GRCh37: 16:89167513-89167513
GRCh38: 16:89101105-89101105
2 MMUT NM_000255.4(MMUT):c.1083+2T>A SNV Pathogenic 495775 rs746085723 GRCh37: 6:49421296-49421296
GRCh38: 6:49453583-49453583
3 MMAA NM_172250.3(MMAA):c.742C>T (p.Gln248Ter) SNV Pathogenic 496554 rs757548934 GRCh37: 4:146572222-146572222
GRCh38: 4:145651070-145651070
4 MMUT NM_000255.4(MMUT):c.1399C>T (p.Arg467Ter) SNV Pathogenic 495778 rs774159791 GRCh37: 6:49416574-49416574
GRCh38: 6:49448861-49448861
5 MMUT NM_000255.4(MMUT):c.1025C>A (p.Ser342Ter) SNV Pathogenic 495777 rs770466993 GRCh37: 6:49421356-49421356
GRCh38: 6:49453643-49453643
6 MMUT NM_000255.4(MMUT):c.982C>T (p.Leu328Phe) SNV Pathogenic 203844 rs796052002 GRCh37: 6:49421399-49421399
GRCh38: 6:49453686-49453686
7 MMUT NM_000255.4(MMUT):c.729_730insTT (p.Asp244fs) Insertion Pathogenic 552079 rs780283588 GRCh37: 6:49425427-49425428
GRCh38: 6:49457714-49457715
8 MMUT NM_000255.4(MMUT):c.2194_2197delinsTGGAA (p.Ala732fs) Indel Pathogenic 222942 rs879253851 GRCh37: 6:49399497-49399500
GRCh38: 6:49431784-49431787
9 MMUT NM_000255.4(MMUT):c.1022dup (p.Asn341fs) Duplication Pathogenic 553958 rs752898811 GRCh37: 6:49421358-49421359
GRCh38: 6:49453645-49453646
10 MMUT NM_000255.4(MMUT):c.323G>A (p.Arg108His) SNV Pathogenic 100707 rs483352778 GRCh37: 6:49426857-49426857
GRCh38: 6:49459144-49459144
11 MMUT NM_000255.4(MMUT):c.850G>T (p.Gly284Ter) SNV Pathogenic 553762 rs761477436 GRCh37: 6:49423854-49423854
GRCh38: 6:49456141-49456141
12 MMUT NM_000255.4(MMUT):c.753+2T>A SNV Pathogenic 203856 rs796052006 GRCh37: 6:49425402-49425402
GRCh38: 6:49457689-49457689
13 MMUT NM_000255.4(MMUT):c.1531C>T (p.Arg511Ter) SNV Pathogenic 556124 rs761525156 GRCh37: 6:49415412-49415412
GRCh38: 6:49447699-49447699
14 MMUT NM_000255.4(MMUT):c.1194_1195TG[1] (p.Val399fs) Microsatellite Pathogenic 578141 rs1227030642 GRCh37: 6:49419314-49419315
GRCh38: 6:49451601-49451602
15 MMUT NM_000255.4(MMUT):c.1560+1G>T SNV Pathogenic 203849 rs200019422 GRCh37: 6:49415382-49415382
GRCh38: 6:49447669-49447669
16 MMUT NM_000255.4(MMUT):c.1481T>A (p.Leu494Ter) SNV Pathogenic 551275 rs764173488 GRCh37: 6:49415462-49415462
GRCh38: 6:49447749-49447749
17 MMUT NM_000255.4(MMUT):c.421del (p.Ala141fs) Deletion Pathogenic 928834 GRCh37: 6:49425736-49425736
GRCh38: 6:49458023-49458023
18 MMUT NM_000255.4(MMUT):c.1677-1G>A SNV Pathogenic 550012 rs754369323 GRCh37: 6:49409685-49409685
GRCh38: 6:49441972-49441972
19 MMUT NM_000255.4(MMUT):c.1420C>T (p.Arg474Ter) SNV Pathogenic 554873 rs887126161 GRCh37: 6:49416553-49416553
GRCh38: 6:49448840-49448840
20 MMAA NM_172250.3(MMAA):c.450dup (p.Pro151fs) Duplication Pathogenic 551182 rs754973022 GRCh37: 4:146563522-146563523
GRCh38: 4:145642370-145642371
21 MMUT NM_000255.4(MMUT):c.1207C>T (p.Arg403Ter) SNV Pathogenic 167310 rs727504020 GRCh37: 6:49419304-49419304
GRCh38: 6:49451591-49451591
22 MMUT NM_000255.4(MMUT):c.682C>T (p.Arg228Ter) SNV Pathogenic 203855 rs200596762 GRCh37: 6:49425475-49425475
GRCh38: 6:49457762-49457762
23 MMUT NM_000255.4(MMUT):c.454C>T (p.Arg152Ter) SNV Pathogenic 426467 rs780068818 GRCh37: 6:49425703-49425703
GRCh38: 6:49457990-49457990
24 MMUT NM_000255.4(MMUT):c.1677-1G>C SNV Pathogenic 556968 rs754369323 GRCh37: 6:49409685-49409685
GRCh38: 6:49441972-49441972
25 ACSF3 NM_001243279.3(ACSF3):c.1446_1447del (p.Tyr482_Lys483delinsTer) Deletion Pathogenic 419126 rs1064793662 GRCh37: 16:89211753-89211754
GRCh38: 16:89145345-89145346
26 MMUT NM_000255.4(MMUT):c.1630_1631delinsTA (p.Gly544Ter) Indel Pathogenic 203860 rs796052008 GRCh37: 6:49412397-49412398
GRCh38: 6:49444684-49444685
27 MMUT NM_000255.4(MMUT):c.19C>T (p.Gln7Ter) SNV Pathogenic 218984 rs761773115 GRCh37: 6:49427161-49427161
GRCh38: 6:49459448-49459448
28 MMUT NM_000255.4(MMUT):c.671_678dup (p.Val227fs) Duplication Pathogenic 554641 rs758008398 GRCh37: 6:49425478-49425479
GRCh38: 6:49457765-49457766
29 MMAB NM_052845.4(MMAB):c.556C>T (p.Arg186Trp) SNV Pathogenic 3095 rs28941784 GRCh37: 12:109998873-109998873
GRCh38: 12:109561068-109561068
30 MMUT NM_000255.4(MMUT):c.572C>A (p.Ala191Glu) SNV Pathogenic 203854 rs760782399 GRCh37: 6:49425585-49425585
GRCh38: 6:49457872-49457872
31 MMUT NM_000255.4(MMUT):c.655A>T (p.Asn219Tyr) SNV Pathogenic 1886 rs121918256 GRCh37: 6:49425502-49425502
GRCh38: 6:49457789-49457789
32 MMAA NM_172250.3(MMAA):c.433C>T (p.Arg145Ter) SNV Pathogenic 3160 rs104893851 GRCh37: 4:146560724-146560724
GRCh38: 4:145639572-145639572
33 MMUT NM_000255.4(MMUT):c.1280G>A (p.Gly427Asp) SNV Pathogenic 218990 rs753288303 GRCh37: 6:49419231-49419231
GRCh38: 6:49451518-49451518
34 MMUT NM_000255.4(MMUT):c.2080C>T (p.Arg694Trp) SNV Pathogenic 218996 rs777758903 GRCh37: 6:49403213-49403213
GRCh38: 6:49435500-49435500
35 MMAA NM_172250.3(MMAA):c.64C>T (p.Arg22Ter) SNV Pathogenic 218969 rs765799472 GRCh37: 4:146560355-146560355
GRCh38: 4:145639203-145639203
36 MMAB NM_052845.4(MMAB):c.197-1G>T SNV Pathogenic 219008 rs763935916 GRCh37: 12:110006669-110006669
GRCh38: 12:109568864-109568864
37 MMAA NM_172250.3(MMAA):c.593_596del (p.Thr198fs) Deletion Pathogenic 203815 rs796051993 GRCh37: 4:146567165-146567168
GRCh38: 4:145646013-145646016
38 MMAB NM_052845.4(MMAB):c.700C>T (p.Gln234Ter) SNV Pathogenic 203820 rs369296618 GRCh37: 12:109994886-109994886
GRCh38: 12:109557081-109557081
39 MMUT NM_000255.4(MMUT):c.278G>A (p.Arg93His) SNV Pathogenic 1880 rs121918251 GRCh37: 6:49426902-49426902
GRCh38: 6:49459189-49459189
40 MMUT NM_000255.4(MMUT):c.91C>T (p.Arg31Ter) SNV Pathogenic 92688 rs398123278 GRCh37: 6:49427089-49427089
GRCh38: 6:49459376-49459376
41 MMUT NM_000255.4(MMUT):c.2150G>T (p.Gly717Val) SNV Pathogenic 1881 rs121918252 GRCh37: 6:49399544-49399544
GRCh38: 6:49431831-49431831
42 MMUT NM_000255.4(MMUT):c.1106G>A (p.Arg369His) SNV Pathogenic 203846 rs564069299 GRCh37: 6:49419405-49419405
GRCh38: 6:49451692-49451692
43 MMUT NM_000255.4(MMUT):c.322C>T (p.Arg108Cys) SNV Pathogenic 1887 rs121918257 GRCh37: 6:49426858-49426858
GRCh38: 6:49459145-49459145
44 MMUT NM_000255.4(MMUT):c.1105C>T (p.Arg369Cys) SNV Pathogenic 218989 rs772552898 GRCh37: 6:49419406-49419406
GRCh38: 6:49451693-49451693
45 MMUT NM_000255.4(MMUT):c.2179C>T (p.Arg727Ter) SNV Pathogenic 218998 rs779990936 GRCh37: 6:49399515-49399515
GRCh38: 6:49431802-49431802
46 MMAA NM_172250.3(MMAA):c.586C>T (p.Arg196Ter) SNV Pathogenic 466217 rs1029096863 GRCh37: 4:146567161-146567161
GRCh38: 4:145646009-145646009
47 MMAA NM_172250.3(MMAA):c.988C>T (p.Arg330Ter) SNV Pathogenic 203816 rs571038432 GRCh37: 4:146576317-146576317
GRCh38: 4:145655165-145655165
48 MMAB NM_052845.4(MMAB):c.291-1G>A SNV Pathogenic 219004 rs199971687 GRCh37: 12:110002982-110002982
GRCh38: 12:109565177-109565177
49 ACSF3 NM_001243279.3(ACSF3):c.1075G>A (p.Glu359Lys) SNV Pathogenic 31136 rs150487794 GRCh37: 16:89180844-89180844
GRCh38: 16:89114436-89114436
50 MMUT NM_000255.4(MMUT):c.1741C>T (p.Arg581Ter) SNV Pathogenic 554675 rs1238694184 GRCh37: 6:49409620-49409620
GRCh38: 6:49441907-49441907

Expression for Isolated Methylmalonic Acidemia

Search GEO for disease gene expression data for Isolated Methylmalonic Acidemia.

Pathways for Isolated Methylmalonic Acidemia

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

(show all 11)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.61 MMUT MMADHC MMAB MMAA MCEE ACSF3
2
Show member pathways
12.48 MMUT MMAA MCEE ACSF3
3
Show member pathways
12.16 MMUT MMADHC MMAB MMAA
4
Show member pathways
11.94 MMUT MMAB MCEE
5
Show member pathways
11.62 MMUT MCEE ACSF3
6
Show member pathways
11.47 MMUT MMADHC MMAA
7 11.03 MMUT MCEE
8
Show member pathways
10.95 MMUT MMAA MCEE
9 10.93 MMUT MCEE
10 10.25 MMUT MMADHC MMAB MMAA
11
Show member pathways
9.76 MMUT MMAA

GO Terms for Isolated Methylmalonic Acidemia

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

# Name GO ID Score Top Affiliating Genes
1 mitochondrion GO:0005739 9.43 MMUT MMADHC MMAB MMAA MCEE ACSF3
2 mitochondrial matrix GO:0005759 9.02 MMUT MMAB MMAA MCEE ACSF3

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

# Name GO ID Score Top Affiliating Genes
1 cobalamin biosynthetic process GO:0009236 9.16 MMAB MMAA
2 short-chain fatty acid catabolic process GO:0019626 9.13 MMUT MMAA MCEE
3 cobalamin metabolic process GO:0009235 8.92 MMUT MMADHC MMAB MMAA

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

# Name GO ID Score Top Affiliating Genes
1 isomerase activity GO:0016853 8.96 MMUT MCEE
2 cobalamin binding GO:0031419 8.62 MMUT MMAB

Sources for Isolated Methylmalonic Acidemia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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