MCID: MTH078
MIFTS: 61

Methylmalonic Aciduria, Cblb Type

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

Aliases & Classifications for Methylmalonic Aciduria, Cblb Type

MalaCards integrated aliases for Methylmalonic Aciduria, Cblb Type:

Name: Methylmalonic Aciduria, Cblb Type 57 53
Methylmalonic Acidemia 12 76 53 25 29 6 15 73
Methylmalonic Aciduria 12 25 37 29 55 73
Methylmalonic Aciduria Cblb Type 12 53 29 6 73
Methylmalonic Aciduria, Vitamin B12-Responsive, Due to Defect in Synthesis of Adenosylcobalamin, Cblb Type 57 12 53
Methylmalonic Acidemia, Cblb Type 57 12 53
Methylmalonic Aciduria, Vitamin B12-Responsive, Due to Defect in Synthesis of Adenosylcobalamin, Cblb Complementation Type 57 13
Vitamin B12-Responsive Methylmalonic Aciduria, Type Cblb 53 59
Vitamin B12-Responsive Methylmalonic Acidemia Type Cblb 53 59
Methylmalonic Aciduria Type Cblb 12 75
Mma 53 25
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 Acidemia Type Cbl B 75
Vitamin B12 Responsive Methylmalonic Aciduria Type Cbl B 75
Aciduria, Methylmalonic, Cblb Type 40
Methylmalonic Acidemia, Cbla Type 12
Methylmalonic Aciduria, Mut Type 12
Methylmalonic Aciduria Type Cbla 12
Methylmalonic Acidemia Cblb Type 53
Methylmalonic Aciduria Mut Type 12
Isolated Methylmalonic Acidemia 25
Methylmalonic Aciduria Type B 75
Acidemia, Methylmalonic 53
Mmab 75

Characteristics:

Orphanet epidemiological data:

59
vitamin b12-responsive methylmalonic acidemia type cblb
Inheritance: Autosomal recessive; Age of onset: Childhood;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
neonatal onset
a subset of patients are responsive to vitamin b12 therapy
some patients may be asymptomatic if diagnosed early and properly managed during metabolic crises


HPO:

32
methylmalonic aciduria, cblb type:
Onset and clinical course neonatal onset
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Methylmalonic Aciduria, Cblb Type

NIH Rare Diseases : 53 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.

MalaCards based summary : Methylmalonic Aciduria, Cblb Type, also known as methylmalonic acidemia, is related to methylmalonic aciduria due to methylmalonyl-coa mutase deficiency and vitamin b12-responsive methylmalonic acidemia, and has symptoms including lethargy, vomiting and respiratory distress. An important gene associated with Methylmalonic Aciduria, Cblb Type is MMAB (Methylmalonic Aciduria (Cobalamin Deficiency) CblB Type), and among its related pathways/superpathways are Valine, leucine and isoleucine degradation and Glyoxylate and dicarboxylate metabolism. 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 muscular hypotonia and failure to thrive

OMIM : 57 Methylmalonic aciduria is a genetically heterogeneous disorder of methylmalonate and cobalamin (cbl; vitamin B12) metabolism. Different forms of isolated methylmalonic aciduria have been classified according to complementation groups of cells in vitro. Patients with defects in the synthesis of AdoCbl are usually responsive to vitamin B12 therapy and are classified as 'cbl' type: these include cblB and cblA (251100). The cblA type is caused by mutation in the MMAA gene (607481). The 'mut' type (251000) is caused by mutation in the MUT gene; in general, the mut form of MMA is unresponsive to vitamin B12 therapy. Combined methylmalonic aciduria and homocystinuria may be seen in complementation groups cblC (277400), cblD (277410), and cblF (277380). (251110)

UniProtKB/Swiss-Prot : 75 Methylmalonic aciduria type cblB: A disorder of methylmalonate and cobalamin metabolism due to defective synthesis of adenosylcobalamin.

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.

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

Wikipedia : 76 Methylmalonic acidemia (MMA), also called methylmalonic aciduria,[help 1] is an autosomal... more...

Related Diseases for Methylmalonic Aciduria, Cblb Type

Diseases related to Methylmalonic Aciduria, Cblb Type via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 35)
# Related Disease Score Top Affiliating Genes
1 methylmalonic aciduria due to methylmalonyl-coa mutase deficiency 35.0 MMAA MUT
2 vitamin b12-responsive methylmalonic acidemia 34.8 MMAA MTR
3 isolated methylmalonic acidemia 34.7 MMAB MUT
4 methylmalonic acidemia with homocystinuria 34.4 MMACHC MMADHC
5 methylmalonic aciduria and homocystinuria, cblc type 34.4 MMACHC MTR
6 mevalonic aciduria 32.2 MMAB MVK
7 propionic acidemia 29.3 HLCS HMGCL MMAA MUT OTC
8 homocystinuria 28.5 LMBRD1 MMACHC MMADHC MTHFR MTR TCN2
9 organic acidemia 28.0 HLCS HMGCL MMAA MMAB MMACHC MMADHC
10 combined malonic and methylmalonic aciduria 12.6
11 methylmalonic aciduria and homocystinuria, cbld type 12.6
12 methylmalonic acidemia and homocysteinemia, cblx type 12.5
13 methylmalonic acidemia due to transcobalamin receptor defect 12.4
14 methylmalonic acidemia cb1a type 12.3
15 methylmalonic aciduria, cbla type 11.8
16 methylmalonic acidemia cb1b type 11.8
17 homocystinuria due to deficiency of n -methylenetetrahydrofolate reductase activity 10.6 MTHFR MTR
18 3-methylcrotonyl-coa carboxylase deficiency 10.5 HMGCL MUT
19 hyperlysinemia, type i 10.4 OTC PC
20 vitamin b12 deficiency 10.3 MTHFR MTR TCN2
21 reye syndrome 10.2 HMGCL OTC PC
22 homocysteinemia 10.2 MMACHC MTHFR MTR
23 biotin deficiency 10.1 HLCS PC
24 succinate-coa ligase deficiency 10.0 SUCLA2 SUCLG1
25 diabetes mellitus, ketosis-prone 10.0
26 monocarboxylate transporter 1 deficiency 9.9 HLCS PC
27 neural tube defects, folate-sensitive 9.9 MTHFR MTR
28 multiple carboxylase deficiency 9.9 HLCS OTC PC
29 amino acid metabolic disorder 9.7 MMAA MMACHC MTHFR MTR MUT
30 vitamin metabolic disorder 9.6 MMADHC MTHFR MTR MUT TCN2
31 disorders of intracellular cobalamin metabolism 9.5 LMBRD1 MMACHC MMADHC MTR
32 megaloblastic anemia 9.2 LMBRD1 MMADHC MTHFR MTR TCN2
33 trehalase deficiency 9.2 HMGCL LMBRD1 MMACHC MTR TCN2
34 holocarboxylase synthetase deficiency 8.8 HLCS HMGCL LMBRD1 MTHFR MUT PC
35 transcobalamin ii deficiency 8.8 LMBRD1 MMAA MMADHC MTHFR MTR MUT

Graphical network of the top 20 diseases related to Methylmalonic Aciduria, Cblb Type:



Diseases related to Methylmalonic Aciduria, Cblb Type

Symptoms & Phenotypes for Methylmalonic Aciduria, Cblb Type

Symptoms via clinical synopsis from OMIM:

57
Growth Other:
failure to thrive

Metabolic Features:
dehydration
metabolic acidosis
ketosis

Hematology:
anemia
thrombocytopenia
neutropenia
pancytopenia (in 50% of patients)

Neurologic Central Nervous System:
coma
lethargy
developmental delay
hypotonia

Abdomen Liver:
hepatomegaly

Abdomen Gastrointestinal:
vomiting
poor feeding

Respiratory:
respiratory distress

Laboratory Abnormalities:
hyperammonemia
methylmalonic aciduria
ketonuria
hyperglycinemia
methylmalonic acidemia
more

Clinical features from OMIM:

251110

Human phenotypes related to Methylmalonic Aciduria, Cblb Type:

32 (show all 24)
# Description HPO Frequency HPO Source Accession
1 muscular hypotonia 32 HP:0001252
2 failure to thrive 32 HP:0001508
3 global developmental delay 32 HP:0001263
4 hepatomegaly 32 HP:0002240
5 feeding difficulties in infancy 32 HP:0008872
6 dehydration 32 HP:0001944
7 vomiting 32 HP:0002013
8 anemia 32 HP:0001903
9 pancytopenia 32 HP:0001876
10 respiratory distress 32 HP:0002098
11 thrombocytopenia 32 HP:0001873
12 coma 32 HP:0001259
13 neutropenia 32 HP:0001875
14 hyperammonemia 32 HP:0001987
15 lethargy 32 HP:0001254
16 metabolic acidosis 32 HP:0001942
17 methylmalonic aciduria 32 HP:0012120
18 generalized hypotonia 32 HP:0001290
19 ketonuria 32 HP:0002919
20 ketosis 32 HP:0001946
21 hyperglycinemia 32 HP:0002154
22 methylmalonic acidemia 32 HP:0002912
23 decreased adenosylcobalamin 32 HP:0003145
24 decreased methylmalonyl-coa mutase activity 32 HP:0003210

UMLS symptoms related to Methylmalonic Aciduria, Cblb Type:


lethargy, vomiting, respiratory distress

GenomeRNAi Phenotypes related to Methylmalonic Aciduria, Cblb Type according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased vaccinia virus (VACV) infection GR00249-S 9.58 ACSF3 HLCS HMGCL LMBRD1 MCEE MMAA
2 Decreased shRNA abundance GR00297-A 9.26 ACSF3 MMACHC MTR TCN2

Drugs & Therapeutics for Methylmalonic Aciduria, Cblb Type

Drugs for Methylmalonic Aciduria, Cblb Type (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 22)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Hydroxocobalamin Approved Phase 3,Phase 2 13422-51-0 11953898 44475014
2
Metronidazole Approved Phase 3 443-48-1 4173
3
Cyanocobalamin Approved, Nutraceutical Phase 3,Phase 2 68-19-9 44176380
4
Methylcobalamin Approved, Experimental, Investigational, Nutraceutical Phase 3,Phase 2 13422-55-4
5
Biotin Approved, Investigational, Nutraceutical Phase 3 58-85-5 171548
6 Vitamin B 12 Phase 3,Phase 2
7 Vitamin B Complex Phase 3,Phase 2
8 Vitamins Phase 3,Phase 2
9
Cobalamin Nutraceutical Phase 3,Phase 2 13408-78-1 6438156
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
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:

(show all 11)
# 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 Long-term Outcome of N-Carbamylglutamate Treatment in Propionic Acidemia and Methylmalonic Acidemia Terminated NCT01597440 Phase 2 N-carbamylglutamate
6 Ataluren for Nonsense Mutation Methylmalonic Acidemia Terminated NCT01141075 Phase 2 Ataluren (PTC124)
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 "The MaP Study": Mapping the Patient Journey in MMA and PA Recruiting NCT03484767
11 Maternal Inborn Errors of Metabolism in Pregnancy: A Pregnancy Registry Protocol Suspended NCT02322177

Search NIH Clinical Center for Methylmalonic Aciduria, Cblb Type

Genetic Tests for Methylmalonic Aciduria, Cblb Type

Genetic tests related to Methylmalonic Aciduria, Cblb Type:

# Genetic test Affiliating Genes
1 Methylmalonic Acidemia 29
2 Methylmalonic Aciduria Cblb Type 29 MMAB
3 Methylmalonic Aciduria 29

Anatomical Context for Methylmalonic Aciduria, Cblb Type

MalaCards organs/tissues related to Methylmalonic Aciduria, Cblb Type:

41
Kidney, Liver, Pancreas, Brain, Globus Pallidus, Lung, Subthalamic Nucleus

Publications for Methylmalonic Aciduria, Cblb Type

Articles related to Methylmalonic Aciduria, Cblb Type:

(show top 50) (show all 242)
# Title Authors Year
1
Management of adult-onset methylmalonic acidemia with hypotonia and acute respiratory failure: A case report. ( 29924026 )
2018
2
Atypical adult-onset methylmalonic acidemia and homocystinuria presenting as hemolytic uremic syndrome. ( 29294253 )
2018
3
Acute Illness Protocol for Organic Acidemias: Methylmalonic Acidemia and Propionic Acidemia. ( 28141776 )
2017
4
Combined methylmalonic acidemia and homocysteinemia presenting predominantly with late-onset diffuse lung disease: a case series of four patients. ( 28327205 )
2017
5
Mutation Analyses in Selected Exons of the MUT Gene in Indian Patients with Methylmalonic Acidemia. ( 28811685 )
2017
6
Simultaneous determination of 3-hydroxypropionic acid, methylmalonic acid and methylcitric acid in dried blood spots: Second-tier LC-MS/MS assay for newborn screening of propionic acidemia, methylmalonic acidemias and combined remethylation disorders. ( 28915261 )
2017
7
Development and Validation of a GC-FID Method for Diagnosis of Methylmalonic Acidemia. ( 27536704 )
2016
8
Improvement in the prognosis and development of patients with methylmalonic acidemia after living donor liver transplant. ( 27670840 )
2016
9
Pulmonary artery hypertension in methylmalonic acidemia. ( 27804229 )
2016
10
The proteome of methylmalonic acidemia (MMA): the elucidation of altered pathways in patient livers. ( 26672496 )
2016
11
Methylmalonic Acidemia Diagnosis by Laboratory Methods. ( 28070528 )
2016
12
Identification of a novel deletion in the MMAA gene in two Iranian siblings with vitamin B12-responsive methylmalonic acidemia. ( 28536607 )
2016
13
Perioperative management of living-donor liver transplantation for methylmalonic acidemia. ( 27221384 )
2016
14
Isolated methylmalonic acidemia with unusual presentation mimicking diabetic ketoacidosis. ( 26581066 )
2016
15
[Identification of two novel mutations of MUT gene in a Chinese family affected with isolated methylmalonic acidemia]. ( 27060300 )
2016
16
Renal cell carcinoma harboring somatic TSC2 mutations in a child with methylmalonic acidemia. ( 27748010 )
2016
17
Neutralizing Antibodies Against Adeno-Associated Viral Capsids in Patients with mut Methylmalonic Acidemia. ( 26790480 )
2016
18
Juvenile gout in methylmalonic acidemia. ( 26952825 )
2016
19
Isolated methylmalonic acidemia: a case report. ( 27492701 )
2016
20
Spectrum of ocular manifestations in cobalamin C and cobalamin A types of methylmalonic acidemia. ( 26979128 )
2016
21
Methylmalonic acidemia mimicking diabetic ketoacidosis and septic shock in infants. ( 25810618 )
2015
22
Insights into the molecular mechanisms of methylmalonic acidemia using microarray technology. ( 26309541 )
2015
23
Early Liver Transplantation for Neonatal-Onset Methylmalonic Acidemia. ( 26077484 )
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
Analysis of Novel Mutations and Methylmalonyl-CoA Mutase Levels in Thai Patients with Isolated Methylmalonic Acidemia. ( 26370686 )
2015
26
Liver or Combined Liver-Kidney Transplantation for Patients with Isolated Methylmalonic Acidemia: Who and When? ( 25882873 )
2015
27
Successful Domino Liver Transplantation from a Patient with Methylmalonic Acidemia. ( 26219882 )
2015
28
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
29
A critical reappraisal of dietary practices in methylmalonic acidemia raises concerns about the safety of medical foods. Part 1: isolated methylmalonic acidemias. ( 26270765 )
2015
30
Methylmalonic Acidemia. ( 26101005 )
2015
31
Treatment of Methylmalonic Acidemia by Liver or Combined Liver-Kidney Transplantation. ( 25771389 )
2015
32
Methylmalonic acidemia (MMA) in pregnancy: a case series and literature review. ( 25567501 )
2015
33
Spectrum of mutations in 60 Saudi patients with Mut methylmalonic acidemia. ( 26615597 )
2015
34
Impaired Health-Related Quality of Life in Children and Families Affected by Methylmalonic Acidemia. ( 26667650 )
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
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
37
Liver transplantation in severe methylmalonic acidemia: The sooner, the better. ( 26362094 )
2015
38
Optic neuropathy in methylmalonic acidemia and propionic acidemia. ( 26209586 )
2015
39
Methylmalonic acidemia and diabetic ketoacidosis: An unusual association. ( 25983442 )
2015
40
Pancytopenia in a patient with methylmalonic acidemia. ( 25927084 )
2015
41
Methylmalonic acidemia with emergency hypertension. ( 26522662 )
2015
42
A critical reappraisal of dietary practices in methylmalonic acidemia raises concerns about the safety of medical foods. Part 2: cobalamin C deficiency. ( 26270766 )
2015
43
Delineating the spectrum of impairments, disabilities, and rehabilitation needs in methylmalonic acidemia (MMA). ( 25959030 )
2015
44
Prenatal identification of a novel mutation causing methylmalonic acidemia in a family without proband. ( 26174677 )
2015
45
Methylmalonic acidemia presenting as persistent pulmonary hypertension of the newborn. ( 25322992 )
2014
46
Skin manifestation of methylmalonic acidemia; a rare case. ( 25058035 )
2014
47
Abnormal hepatocellular mitochondria in methylmalonic acidemia. ( 24933007 )
2014
48
Noninvasive prenatal diagnosis in a fetus at risk for methylmalonic acidemia. ( 24406457 )
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
MicroRNA-9 regulates neural apoptosis in methylmalonic acidemia via targeting BCL2L11. ( 24798023 )
2014

Variations for Methylmalonic Aciduria, Cblb Type

UniProtKB/Swiss-Prot genetic disease variations for Methylmalonic Aciduria, Cblb Type:

75
# Symbol AA change Variation ID SNP ID
1 MMAB p.Ala135Thr VAR_017204 rs35648932
2 MMAB p.Arg186Trp VAR_017205 rs28941784
3 MMAB p.Arg191Trp VAR_017206 rs376128990
4 MMAB p.Glu193Lys VAR_017207 rs749758687
5 MMAB p.Ile96Thr VAR_023471 rs864309509

ClinVar genetic disease variations for Methylmalonic Aciduria, Cblb Type:

6
(show top 50) (show all 560)
# Gene Variation Type Significance SNP ID Assembly Location
1 MUT NM_000255.3(MUT): c.655A> T (p.Asn219Tyr) single nucleotide variant Pathogenic rs121918256 GRCh37 Chromosome 6, 49425502: 49425502
2 MUT NM_000255.3(MUT): c.655A> T (p.Asn219Tyr) single nucleotide variant Pathogenic rs121918256 GRCh38 Chromosome 6, 49457789: 49457789
3 MMAB NM_052845.3(MMAB): c.556C> T (p.Arg186Trp) single nucleotide variant Pathogenic rs28941784 GRCh37 Chromosome 12, 109998873: 109998873
4 MMAB NM_052845.3(MMAB): c.556C> T (p.Arg186Trp) single nucleotide variant Pathogenic rs28941784 GRCh38 Chromosome 12, 109561068: 109561068
5 MMAB MMAB, IVS3, G-A, -1 single nucleotide variant Pathogenic
6 MMAB MMAB, 5-BP DEL, NT572 deletion Pathogenic
7 MMAA NM_172250.2(MMAA): c.433C> T (p.Arg145Ter) single nucleotide variant Pathogenic rs104893851 GRCh37 Chromosome 4, 146560724: 146560724
8 MMAA NM_172250.2(MMAA): c.433C> T (p.Arg145Ter) single nucleotide variant Pathogenic rs104893851 GRCh38 Chromosome 4, 145639572: 145639572
9 MMAB NM_052845.3(MMAB): c.568C> T (p.Arg190Cys) single nucleotide variant Pathogenic rs398124434 GRCh37 Chromosome 12, 109998861: 109998861
10 MMAB NM_052845.3(MMAB): c.568C> T (p.Arg190Cys) single nucleotide variant Pathogenic rs398124434 GRCh38 Chromosome 12, 109561056: 109561056
11 MUT NM_000255.3(MUT): c.393G> A (p.Gln131=) single nucleotide variant Conflicting interpretations of pathogenicity rs145682249 GRCh37 Chromosome 6, 49425764: 49425764
12 MUT NM_000255.3(MUT): c.393G> A (p.Gln131=) single nucleotide variant Conflicting interpretations of pathogenicity rs145682249 GRCh38 Chromosome 6, 49458051: 49458051
13 MMADHC NM_015702.2(MMADHC): c.453G> A (p.Gln151=) single nucleotide variant Benign rs11545261 GRCh38 Chromosome 2, 149576462: 149576462
14 MMADHC NM_015702.2(MMADHC): c.453G> A (p.Gln151=) single nucleotide variant Benign rs11545261 GRCh37 Chromosome 2, 150432976: 150432976
15 MUT NM_000255.3(MUT): c.982C> T (p.Leu328Phe) single nucleotide variant Pathogenic rs796052002 GRCh37 Chromosome 6, 49421399: 49421399
16 MUT NM_000255.3(MUT): c.982C> T (p.Leu328Phe) single nucleotide variant Pathogenic rs796052002 GRCh38 Chromosome 6, 49453686: 49453686
17 MUT NM_000255.3(MUT): c.711A> G (p.Pro237=) single nucleotide variant Conflicting interpretations of pathogenicity rs138085432 GRCh37 Chromosome 6, 49425446: 49425446
18 MUT NM_000255.3(MUT): c.711A> G (p.Pro237=) single nucleotide variant Conflicting interpretations of pathogenicity rs138085432 GRCh38 Chromosome 6, 49457733: 49457733
19 MUT NM_000255.3(MUT): c.572C> A (p.Ala191Glu) single nucleotide variant Pathogenic rs760782399 GRCh37 Chromosome 6, 49425585: 49425585
20 MUT NM_000255.3(MUT): c.572C> A (p.Ala191Glu) single nucleotide variant Pathogenic rs760782399 GRCh38 Chromosome 6, 49457872: 49457872
21 MMAB NM_052845.3(MMAB): c.700C> T (p.Gln234Ter) single nucleotide variant Pathogenic rs369296618 GRCh37 Chromosome 12, 109994886: 109994886
22 MMAB NM_052845.3(MMAB): c.700C> T (p.Gln234Ter) single nucleotide variant Pathogenic rs369296618 GRCh38 Chromosome 12, 109557081: 109557081
23 MMAB NM_052845.3(MMAB): c.569G> A (p.Arg190His) single nucleotide variant Pathogenic rs756414548 GRCh38 Chromosome 12, 109561055: 109561055
24 MMAB NM_052845.3(MMAB): c.569G> A (p.Arg190His) single nucleotide variant Pathogenic rs756414548 GRCh37 Chromosome 12, 109998860: 109998860
25 MMAB NM_052845.3(MMAB): c.185C> T (p.Thr62Met) single nucleotide variant Benign/Likely benign rs115802744 GRCh37 Chromosome 12, 110009465: 110009465
26 MMAB NM_052845.3(MMAB): c.185C> T (p.Thr62Met) single nucleotide variant Benign/Likely benign rs115802744 GRCh38 Chromosome 12, 109571660: 109571660
27 MMAA NM_172250.2(MMAA): c.370C> T (p.Gln124Ter) single nucleotide variant not provided rs796064514 GRCh38 Chromosome 4, 145639509: 145639509
28 MMAA NM_172250.2(MMAA): c.370C> T (p.Gln124Ter) single nucleotide variant not provided rs796064514 GRCh37 Chromosome 4, 146560661: 146560661
29 MMAB NM_052845.3(MMAB): c.37_54del18 (p.Gly13_Leu18del) deletion not provided rs770077320 GRCh38 Chromosome 12, 109573427: 109573444
30 MMAB NM_052845.3(MMAB): c.37_54del18 (p.Gly13_Leu18del) deletion not provided rs770077320 GRCh37 Chromosome 12, 110011232: 110011249
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.520_584del65 single nucleotide variant Pathogenic rs756195708 GRCh37 Chromosome 12, 109998845: 109998845
33 MMAB NM_052845.3(MMAB): c.287T> C (p.Ile96Thr) single nucleotide variant Pathogenic rs864309509 GRCh37 Chromosome 12, 110006578: 110006578
34 MMAB NM_052845.3(MMAB): c.287T> C (p.Ile96Thr) single nucleotide variant Pathogenic rs864309509 GRCh38 Chromosome 12, 109568773: 109568773
35 MMAB NM_052845.3(MMAB): c.571C> T (p.Arg191Trp) single nucleotide variant Pathogenic rs376128990 GRCh38 Chromosome 12, 109561053: 109561053
36 MMAB NM_052845.3(MMAB): c.571C> T (p.Arg191Trp) single nucleotide variant Pathogenic rs376128990 GRCh37 Chromosome 12, 109998858: 109998858
37 MMAB NM_052845.3(MMAB): c.349_354delATCCAG single nucleotide variant Pathogenic rs864309510 GRCh38 Chromosome 12, 109561853: 109561853
38 MMAB NM_052845.3(MMAB): c.349_354delATCCAG single nucleotide variant Pathogenic rs864309510 GRCh37 Chromosome 12, 109999658: 109999658
39 MMAB NM_052845.3(MMAB): c.197_290del94 single nucleotide variant Pathogenic rs864309511 GRCh38 Chromosome 12, 109568770: 109568770
40 MMAB NM_052845.3(MMAB): c.197_290del94 single nucleotide variant Pathogenic rs864309511 GRCh37 Chromosome 12, 110006575: 110006575
41 MMAB NM_052845.3(MMAB): c.570_572dupCCG (p.Arg191_Ala192insArg) duplication Pathogenic rs864309512 GRCh37 Chromosome 12, 109998857: 109998859
42 MMAB NM_052845.3(MMAB): c.570_572dupCCG (p.Arg191_Ala192insArg) duplication Pathogenic rs864309512 GRCh38 Chromosome 12, 109561052: 109561054
43 MMAB NM_052845.3(MMAB): c.548A> T (p.His183Leu) single nucleotide variant Pathogenic rs752866643 GRCh37 Chromosome 12, 109998881: 109998881
44 MMAB NM_052845.3(MMAB): c.548A> T (p.His183Leu) single nucleotide variant Pathogenic rs752866643 GRCh38 Chromosome 12, 109561076: 109561076
45 MMADHC NM_015702.2(MMADHC): c.617A> G (p.Asn206Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs138607412 GRCh37 Chromosome 2, 150427678: 150427678
46 MMADHC NM_015702.2(MMADHC): c.617A> G (p.Asn206Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs138607412 GRCh38 Chromosome 2, 149571164: 149571164
47 MMAA NM_172250.2(MMAA): c.64C> T (p.Arg22Ter) single nucleotide variant Pathogenic rs765799472 GRCh38 Chromosome 4, 145639203: 145639203
48 MMAA NM_172250.2(MMAA): c.64C> T (p.Arg22Ter) single nucleotide variant Pathogenic rs765799472 GRCh37 Chromosome 4, 146560355: 146560355
49 MUT NM_000255.3(MUT): c.2080C> T (p.Arg694Trp) single nucleotide variant Pathogenic rs777758903 GRCh38 Chromosome 6, 49435500: 49435500
50 MUT NM_000255.3(MUT): c.2080C> T (p.Arg694Trp) single nucleotide variant Pathogenic rs777758903 GRCh37 Chromosome 6, 49403213: 49403213

Expression for Methylmalonic Aciduria, Cblb Type

Search GEO for disease gene expression data for Methylmalonic Aciduria, Cblb Type.

Pathways for Methylmalonic Aciduria, Cblb Type

Pathways related to Methylmalonic Aciduria, Cblb Type according to KEGG:

37
# Name Kegg Source Accession
1 Valine, leucine and isoleucine degradation hsa00280
2 Glyoxylate and dicarboxylate metabolism hsa00630
3 Propanoate metabolism hsa00640

Pathways related to Methylmalonic Aciduria, Cblb Type according to GeneCards Suite gene sharing:

(show all 17)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.74 ACSF3 HLCS HMGCL LMBRD1 MCEE MMAA
2
Show member pathways
12.69 ACSF3 HMGCL MCEE MMAA MUT
3
Show member pathways
12.3 HLCS LMBRD1 MMAA MMAB MMACHC MMADHC
4
Show member pathways
12.25 MCEE MTHFR MTR MUT OTC PC
5
Show member pathways
12.21 MCEE MMAB MTHFR MTR MUT TCN2
6
Show member pathways
11.88 MTHFR MTR TCN2
7
Show member pathways
11.85 ACSF3 HMGCL MCEE MUT
8
Show member pathways
11.77 MMAA MMACHC MMADHC MTR MUT PC
9
Show member pathways
11.73 PC SUCLA2 SUCLG1
10 11.73 HMGCL MUT OTC PC SUCLG1
11
Show member pathways
11.51 MCEE MMAA MUT
12 11.24 MCEE MUT SUCLA2 SUCLG1
13 11.01 MCEE MUT
14 11.01 LMBRD1 MMACHC TCN2
15
Show member pathways
10.89 SUCLA2 SUCLG1
16 10.55 LMBRD1 MMAA MMAB MMACHC MMADHC MTR
17
Show member pathways
10.1 MMAA MUT

GO Terms for Methylmalonic Aciduria, Cblb Type

Cellular components related to Methylmalonic Aciduria, Cblb Type according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mitochondrion GO:0005739 9.77 ACSF3 HLCS HMGCL MCEE MMAA MMAB
2 mitochondrial matrix GO:0005759 9.32 ACSF3 HMGCL MCEE MMAA MMAB MUT

Biological processes related to Methylmalonic Aciduria, Cblb Type according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 metabolic process GO:0008152 9.8 ACSF3 HLCS MTHFR MUT PC SUCLA2
2 tricarboxylic acid cycle GO:0006099 9.48 SUCLA2 SUCLG1
3 biotin metabolic process GO:0006768 9.46 HLCS PC
4 succinate metabolic process GO:0006105 9.43 SUCLA2 SUCLG1
5 homocysteine metabolic process GO:0050667 9.4 MTHFR MUT
6 succinyl-CoA metabolic process GO:0006104 9.37 SUCLA2 SUCLG1
7 short-chain fatty acid catabolic process GO:0019626 9.33 MCEE MMAA MUT
8 response to biotin GO:0070781 9.32 HLCS OTC
9 cobalamin metabolic process GO:0009235 9.23 LMBRD1 MMAA MMAB MMACHC MMADHC MTR
10 cobalamin biosynthetic process GO:0009236 9.13 MMAA MMAB MMACHC

Molecular functions related to Methylmalonic Aciduria, Cblb Type according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein homodimerization activity GO:0042803 9.8 HLCS HMGCL MMAA MMACHC MUT
2 ligase activity GO:0016874 9.55 ACSF3 HLCS PC SUCLA2 SUCLG1
3 catalytic activity GO:0003824 9.5 ACSF3 HLCS HMGCL MTHFR PC SUCLA2
4 modified amino acid binding GO:0072341 9.37 MTHFR MUT
5 biotin binding GO:0009374 9.32 HLCS PC
6 succinate-CoA ligase (ADP-forming) activity GO:0004775 9.26 SUCLA2 SUCLG1
7 cobalamin binding GO:0031419 9.1 LMBRD1 MMAB MMACHC MTR MUT TCN2

Sources for Methylmalonic Aciduria, Cblb Type

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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