MMAB
MCID: MTH078
MIFTS: 47

Methylmalonic Aciduria, Cblb Type (MMAB)

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

Aliases & Classifications for Methylmalonic Aciduria, Cblb Type

MalaCards integrated aliases for Methylmalonic Aciduria, Cblb Type:

Name: Methylmalonic Aciduria, Cblb Type 57 20
Vitamin B12-Responsive Methylmalonic Acidemia Type Cblb 20 58 29 6
Methylmalonic Aciduria Cblb Type 12 20 17 70
Methylmalonic Acidemia Cblb Type 12 20 15
Methylmalonic Aciduria, Vitamin B12-Responsive, Due to Defect in Synthesis of Adenosylcobalamin, Cblb Complementation Type 12 13
Methylmalonic Aciduria, Vitamin B12-Responsive, Due to Defect in Synthesis of Adenosylcobalamin, Cblb Type 57 20
Vitamin B12-Responsive Methylmalonic Aciduria, Type Cblb 20 58
Methylmalonic Acidemia, Cblb Type 57 20
Methylmalonic Aciduria, Vitamin B12-Responsive, Cblb Type 57
Vitamin B12 Responsive Methylmalonic Acidemia Type Cbl B 72
Vitamin B12 Responsive Methylmalonic Aciduria Type Cbl B 72
Aciduria, Methylmalonic, Cblb Type 39
Methylmalonic Aciduria Type Cblb 72
Methylmalonic Aciduria Type B 72
Methylmalonic Acidemia 70
Methylmalonic Aciduria 70
Mmab 72

Characteristics:

Orphanet epidemiological data:

58
vitamin b12-responsive methylmalonic acidemia type cblb
Inheritance: Autosomal recessive; Age of onset: Childhood;

OMIM®:

57 (Updated 05-Apr-2021)
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

Inheritance:
autosomal recessive


HPO:

31
methylmalonic aciduria, cblb type:
Inheritance autosomal recessive inheritance
Onset and clinical course neonatal onset


Classifications:

Orphanet: 58  
Rare renal diseases
Inborn errors of metabolism


Summaries for Methylmalonic Aciduria, Cblb Type

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) (Updated 05-Apr-2021)

MalaCards based summary : Methylmalonic Aciduria, Cblb Type, also known as vitamin b12-responsive methylmalonic acidemia type cblb, is related to methylmalonic aciduria and homocystinuria, cblc type and mevalonic aciduria, and has symptoms including vomiting, lethargy and respiratory distress. An important gene associated with Methylmalonic Aciduria, Cblb Type is MMAB (Metabolism Of Cobalamin Associated B), and among its related pathways/superpathways are the visual cycle I (vertebrates) and Cobalamin (Cbl, vitamin B12) transport and metabolism. The drugs Methylcobalamin and Hydroxocobalamin have been mentioned in the context of this disorder. Related phenotypes are failure to thrive and global developmental delay

Disease Ontology : 12 A methylmalonic acidemia characterized by autosomal recessive inheritance, defects in the synthesis of AdoCbl, vitamin B12 therapy responsiveness and that has material basis in homozygous or compound heterozygous mutation in the MMAB gene on chromosome 12q24.

UniProtKB/Swiss-Prot : 72 Methylmalonic aciduria type cblB: A disorder of methylmalonate and cobalamin metabolism due to defective synthesis of adenosylcobalamin.

Related Diseases for Methylmalonic Aciduria, Cblb Type

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

Human phenotypes related to Methylmalonic Aciduria, Cblb Type:

31 (show all 24)
# Description HPO Frequency HPO Source Accession
1 failure to thrive 31 HP:0001508
2 global developmental delay 31 HP:0001263
3 hepatomegaly 31 HP:0002240
4 feeding difficulties in infancy 31 HP:0008872
5 dehydration 31 HP:0001944
6 vomiting 31 HP:0002013
7 anemia 31 HP:0001903
8 thrombocytopenia 31 HP:0001873
9 neutropenia 31 HP:0001875
10 hyperammonemia 31 HP:0001987
11 lethargy 31 HP:0001254
12 metabolic acidosis 31 HP:0001942
13 coma 31 HP:0001259
14 respiratory distress 31 HP:0002098
15 methylmalonic aciduria 31 HP:0012120
16 pancytopenia 31 HP:0001876
17 generalized hypotonia 31 HP:0001290
18 methylmalonic acidemia 31 HP:0002912
19 ketonuria 31 HP:0002919
20 ketosis 31 HP:0001946
21 hyperglycinemia 31 HP:0002154
22 decreased adenosylcobalamin 31 HP:0003145
23 hypotonia 31 HP:0001252
24 decreased methylmalonyl-coa mutase activity 31 HP:0003210

Symptoms via clinical synopsis from OMIM®:

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

Metabolic Features:
dehydration
metabolic acidosis
ketosis

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

Neurologic Central Nervous System:
lethargy
coma
hypotonia
developmental delay

Abdomen Liver:
hepatomegaly

Abdomen Gastrointestinal:
vomiting
poor feeding

Laboratory Abnormalities:
hyperammonemia
methylmalonic aciduria
methylmalonic acidemia
ketonuria
hyperglycinemia
more
Respiratory:
respiratory distress

Clinical features from OMIM®:

251110 (Updated 05-Apr-2021)

UMLS symptoms related to Methylmalonic Aciduria, Cblb Type:


vomiting; lethargy; 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 Decreased free cholesterol GR00340-A-2 8.8 LIPC MMAB MVK

Drugs & Therapeutics for Methylmalonic Aciduria, Cblb Type

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

(show all 15)
# 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 Vitamin B12 Phase 3
8 Vitamin B 12 Phase 3
9 carnitine Phase 3
10 Vitamins Phase 3
11 Vitamin B Complex Phase 3
12 Vitamin B7 Phase 3
13
Glutamic acid Approved, Nutraceutical Phase 2 56-86-0 33032
14 Antioxidants Phase 2
15 Pharmaceutical Solutions Phase 2

Interventional clinical trials:

(show all 12)
# 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 Phase 2, Double-Blind, Placebo Controlled Clinical Trial of EPI-743 in Subjects With Cobalamin C Defect Completed NCT01793090 Phase 2 Epi-743
3 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
4 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
5 A Phase 2 Study of Ataluren (PTC124®) as an Oral Treatment for Nonsense Mutation Methylmalonic Acidemia Terminated NCT01141075 Phase 2 Ataluren
6 Long-term Outcome of N-Carbamylglutamate Treatment in Propionic Acidemia and Methylmalonic Acidemia Terminated NCT01597440 Phase 2 N-carbamylglutamate
7 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
8 Combined Malonic and Methylmalonic Aciduria (CMAMMA): Gene Identification and Outcome Study Unknown status NCT01289158
9 Understanding the Long-Term Management of Organic Acidemia Patients With CARBAGLU®: A Mixed Methods Approach Recruiting NCT04176523 Carglumic Acid
10 Clinical and Basic Investigations of Methylmalonic Acidemia (MMA) and Related Disorders Recruiting NCT00078078
11 A Longitudinal, Exploratory, Natural History Study to Further Characterize and Describe the Signs and Symptoms of Patients With Organic Acidemias Active, not recruiting NCT03484767
12 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 Methylmalonic Aciduria, Cblb Type

Genetic Tests for Methylmalonic Aciduria, Cblb Type

Genetic tests related to Methylmalonic Aciduria, Cblb Type:

# Genetic test Affiliating Genes
1 Vitamin B12-Responsive Methylmalonic Acidemia Type Cblb 29 MMAB

Anatomical Context for Methylmalonic Aciduria, Cblb Type

Publications for Methylmalonic Aciduria, Cblb Type

Articles related to Methylmalonic Aciduria, Cblb Type:

(show all 31)
# Title Authors PMID Year
1
Methylmalonic aciduria cblB type: characterization of two novel mutations and mitochondrial dysfunction studies. 57 6 61
24813872 2015
2
Functional and structural analysis of five mutations identified in methylmalonic aciduria cblB type. 61 6 57
20556797 2010
3
Identification of the gene responsible for the cblB complementation group of vitamin B12-dependent methylmalonic aciduria. 6 57
12471062 2002
4
New perspectives for pharmacological chaperoning treatment in methylmalonic aciduria cblB type. 6 61
29197662 2018
5
Pharmacological chaperones as a potential therapeutic option in methylmalonic aciduria cblB type. 6 61
23674520 2013
6
Different altered pattern expression of genes related to apoptosis in isolated methylmalonic aciduria cblB type and combined with homocystinuria cblC type. 6 61
20696242 2010
7
Mutation and biochemical analysis of patients belonging to the cblB complementation class of vitamin B12-dependent methylmalonic aciduria. 6 61
16410054 2006
8
Autozygosity mapping of methylmalonic acidemia associated genes by short tandem repeat markers facilitates the identification of five novel mutations in an Iranian patient cohort. 6
30022420 2018
9
[Screening for newborn organic aciduria in Zhejiang province:prevalence, outcome and follow-up]. 6
29039164 2017
10
Targeted exome sequencing for the identification of complementation groups in methylmalonic aciduria: A south Indian experience. 6
27591164 2017
11
Mutation Spectrum and Birth Prevalence of Inborn Errors of Metabolism among Emiratis: A study from Tawam Hospital Metabolic Center, United Arab Emirates. 6
24516753 2014
12
Long-term neurological outcome of a cohort of 80 patients with classical organic acidurias. 6
24059531 2013
13
High resolution melting analysis of the MMAB gene in cblB patients and in those with undiagnosed methylmalonic aciduria. 6
23707710 2013
14
Clinical and molecular findings in Thai patients with isolated methylmalonic acidemia. 6
22695176 2012
15
Neurocognitive phenotype of isolated methylmalonic acidemia. 6
22614770 2012
16
Loss of allostery and coenzyme B12 delivery by a pathogenic mutation in adenosyltransferase. 6
21604717 2011
17
Variable dietary management of methylmalonic acidemia: metabolic and energetic correlations. 6
21048060 2011
18
The molecular landscape of propionic acidemia and methylmalonic aciduria in Latin America. 6
20549364 2010
19
Ligand-binding by catalytically inactive mutants of the cblB complementation group defective in human ATP:cob(I)alamin adenosyltransferase. 6
19625202 2009
20
Functional characterization and mutation analysis of human ATP:Cob(I)alamin adenosyltransferase. 6
18251506 2008
21
Methylmalonic acidaemia: examination of genotype and biochemical data in 32 patients belonging to mut, cblA or cblB complementation group. 6
17957493 2008
22
Methylmalonic acidaemia leads to increased production of reactive oxygen species and induction of apoptosis through the mitochondrial/caspase pathway. 6
17948227 2007
23
Novel mutations found in two genes of thai patients with isolated methylmalonic acidemia. 6
17410422 2007
24
Structure of ATP-bound human ATP:cobalamin adenosyltransferase. 6
17176040 2006
25
Impact of cblB mutations on the function of ATP:cob(I)alamin adenosyltransferase in disorders of vitamin B12 metabolism. 6
16439175 2006
26
Isolated Methylmalonic Acidemia 6
20301409 2005
27
Genetic analysis of three genes causing isolated methylmalonic acidemia: identification of 21 novel allelic variants. 6
15781192 2005
28
The structural basis for methylmalonic aciduria. The crystal structure of archaeal ATP:cobalamin adenosyltransferase. 6
15044458 2004
29
The defect in the cbl B class of human methylmalonic acidemia: deficiency of cob(I)alamin adenosyltransferase activity in extracts of cultured fibroblasts. 57
7213387 1981
30
[A Chinese boy with methylmalonic aciduria cblB type and a novel mutation in the MMAB gene]. 61
25760844 2015
31
Allelic expression imbalance at high-density lipoprotein cholesterol locus MMAB-MVK. 61
20159775 2010

Variations for Methylmalonic Aciduria, Cblb Type

ClinVar genetic disease variations for Methylmalonic Aciduria, Cblb Type:

6 (show top 50) (show all 201)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 MMAB NM_052845.4(MMAB):c.563T>G (p.Val188Gly) SNV Pathogenic 225186 rs869320654 GRCh37: 12:109998866-109998866
GRCh38: 12:109561061-109561061
2 MMAB , MVK NM_052845.4(MMAB):c.2T>C (p.Met1Thr) SNV Pathogenic 225187 rs869320655 GRCh37: 12:110011284-110011284
GRCh38: 12:109573479-109573479
3 MMAB NM_052845.4(MMAB):c.585-2A>C SNV Pathogenic 550985 rs1555274254 GRCh37: 12:109996962-109996962
GRCh38: 12:109559157-109559157
4 MMAB NM_052845.4(MMAB):c.468G>A (p.Trp156Ter) SNV Pathogenic 834947 GRCh37: 12:109999276-109999276
GRCh38: 12:109561471-109561471
5 MMAB NM_052845.4(MMAB):c.573_577del (p.Ala192fs) Deletion Pathogenic 3097 rs1555274497 GRCh37: 12:109998852-109998856
GRCh38: 12:109561047-109561051
6 MMAB NM_052845.4(MMAB):c.290G>A (p.Gly97Glu) SNV Pathogenic 218326 rs864309511 GRCh37: 12:110006575-110006575
GRCh38: 12:109568770-109568770
7 MMAB NM_052845.4(MMAB):c.567_569CCG[3] (p.Arg191dup) Microsatellite Pathogenic 218327 rs864309512 GRCh37: 12:109998856-109998857
GRCh38: 12:109561051-109561052
8 MMAB NM_052845.4(MMAB):c.556C>T (p.Arg186Trp) SNV Pathogenic 3095 rs28941784 GRCh37: 12:109998873-109998873
GRCh38: 12:109561068-109561068
9 MMAB NM_052845.4(MMAB):c.700C>T (p.Gln234Ter) SNV Pathogenic 203820 rs369296618 GRCh37: 12:109994886-109994886
GRCh38: 12:109557081-109557081
10 MMAB NM_052845.4(MMAB):c.287T>C (p.Ile96Thr) SNV Pathogenic 218323 rs864309509 GRCh37: 12:110006578-110006578
GRCh38: 12:109568773-109568773
11 MMAB NM_052845.4(MMAB):c.571C>T (p.Arg191Trp) SNV Pathogenic 218324 rs376128990 GRCh37: 12:109998858-109998858
GRCh38: 12:109561053-109561053
12 MMAB NM_052845.4(MMAB):c.197-1G>T SNV Pathogenic 219008 rs763935916 GRCh37: 12:110006669-110006669
GRCh38: 12:109568864-109568864
13 MMAB NM_052845.4(MMAB):c.291-1G>A SNV Pathogenic 219004 rs199971687 GRCh37: 12:110002982-110002982
GRCh38: 12:109565177-109565177
14 MMAB NM_052845.4(MMAB):c.572G>A (p.Arg191Gln) SNV Pathogenic 219006 rs746219370 GRCh37: 12:109998857-109998857
GRCh38: 12:109561052-109561052
15 MMAB NM_052845.4(MMAB):c.568C>T (p.Arg190Cys) SNV Pathogenic/Likely pathogenic 96244 rs398124434 GRCh37: 12:109998861-109998861
GRCh38: 12:109561056-109561056
16 MMAB NM_052845.4(MMAB):c.584G>A (p.Arg195His) SNV Pathogenic/Likely pathogenic 218322 rs756195708 GRCh37: 12:109998845-109998845
GRCh38: 12:109561040-109561040
17 MMAB NM_052845.4(MMAB):c.454G>T (p.Glu152Ter) SNV Pathogenic/Likely pathogenic 551214 rs557884699 GRCh37: 12:109999290-109999290
GRCh38: 12:109561485-109561485
18 MMAB , MVK NM_052845.4(MMAB):c.1A>C (p.Met1Leu) SNV Likely pathogenic 861176 GRCh37: 12:110011285-110011285
GRCh38: 12:109573480-109573480
19 MMAB NM_052845.4(MMAB):c.563_577dup (p.Val188_Ala192dup) Duplication Likely pathogenic 203822 rs1555274496 GRCh37: 12:109998851-109998852
GRCh38: 12:109561046-109561047
20 MMAB NM_052845.4(MMAB):c.349-1G>C SNV Likely pathogenic 218325 rs864309510 GRCh37: 12:109999658-109999658
GRCh38: 12:109561853-109561853
21 MMAB NM_052845.4(MMAB):c.290+1G>A SNV Likely pathogenic 966752 GRCh37: 12:110006574-110006574
GRCh38: 12:109568769-109568769
22 MMAB NC_000012.12:g.(?_109561020)_(109565196_?)del Deletion Likely pathogenic 534563 GRCh37: 12:109998825-110003001
GRCh38: 12:109561020-109565196
23 MMAB , MVK NM_052845.4(MMAB):c.12C>A (p.Cys4Ter) SNV Likely pathogenic 550793 rs1481415459 GRCh37: 12:110011274-110011274
GRCh38: 12:109573469-109573469
24 MMAB NM_052845.4(MMAB):c.519+1G>A SNV Likely pathogenic 645198 rs1592998207 GRCh37: 12:109999224-109999224
GRCh38: 12:109561419-109561419
25 MMAB NM_052845.4(MMAB):c.577_578GA[2] (p.Arg194fs) Microsatellite Likely pathogenic 648669 rs1592997663 GRCh37: 12:109998847-109998848
GRCh38: 12:109561042-109561043
26 MMAB NM_052845.4(MMAB):c.644+1G>A SNV Likely pathogenic 653870 rs1592996077 GRCh37: 12:109996900-109996900
GRCh38: 12:109559095-109559095
27 MMAB NM_052845.4(MMAB):c.577G>C (p.Glu193Gln) SNV Likely pathogenic 522406 rs749758687 GRCh37: 12:109998852-109998852
GRCh38: 12:109561047-109561047
28 MMAB NM_052845.4(MMAB):c.658_659CT[1] (p.Phe221fs) Microsatellite Likely pathogenic 553302 rs1383825118 GRCh37: 12:109994925-109994926
GRCh38: 12:109557120-109557121
29 MMAB NM_052845.4(MMAB):c.578_584dup (p.Val196fs) Duplication Likely pathogenic 553865 rs1555274493 GRCh37: 12:109998844-109998845
GRCh38: 12:109561039-109561040
30 MMAB NM_052845.4(MMAB):c.107del (p.Gly36fs) Deletion Likely pathogenic 557303 rs1555276160 GRCh37: 12:110011179-110011179
GRCh38: 12:109573374-109573374
31 MMAB NM_052845.4(MMAB):c.197-2del Deletion Likely pathogenic 558125 rs1555275604 GRCh37: 12:110006670-110006670
GRCh38: 12:109568865-109568865
32 MMAB NM_052845.4(MMAB):c.583_584+18del Deletion Likely pathogenic 558230 rs1555274484 GRCh37: 12:109998827-109998846
GRCh38: 12:109561022-109561041
33 MMAB NM_052845.4(MMAB):c.573_577dup (p.Glu193fs) Duplication Likely pathogenic 558232 rs1555274497 GRCh37: 12:109998851-109998852
GRCh38: 12:109561046-109561047
34 MMAB NM_052845.4(MMAB):c.644+7G>A SNV Conflicting interpretations of pathogenicity 307077 rs147637814 GRCh37: 12:109996894-109996894
GRCh38: 12:109559089-109559089
35 MMAB NM_052845.4(MMAB):c.333C>T (p.Ala111=) SNV Conflicting interpretations of pathogenicity 262245 rs769385276 GRCh37: 12:110002939-110002939
GRCh38: 12:109565134-109565134
36 MMAB NM_052845.4(MMAB):c.548A>T (p.His183Leu) SNV Conflicting interpretations of pathogenicity 218328 rs752866643 GRCh37: 12:109998881-109998881
GRCh38: 12:109561076-109561076
37 MMAB NM_052845.4(MMAB):c.387G>A (p.Ala129=) SNV Conflicting interpretations of pathogenicity 513804 rs549807022 GRCh37: 12:109999619-109999619
GRCh38: 12:109561814-109561814
38 MMAB NM_052845.4(MMAB):c.444G>A (p.Gly148=) SNV Conflicting interpretations of pathogenicity 287810 rs117269384 GRCh37: 12:109999300-109999300
GRCh38: 12:109561495-109561495
39 MMAB NM_052845.4(MMAB):c.569G>A (p.Arg190His) SNV Conflicting interpretations of pathogenicity 203819 rs756414548 GRCh37: 12:109998860-109998860
GRCh38: 12:109561055-109561055
40 MMAB NM_052845.4(MMAB):c.732G>A (p.Ser244=) SNV Conflicting interpretations of pathogenicity 307075 rs186864802 GRCh37: 12:109994854-109994854
GRCh38: 12:109557049-109557049
41 MMAB NM_052845.4(MMAB):c.150G>A (p.Ser50=) SNV Conflicting interpretations of pathogenicity 706935 rs754357121 GRCh37: 12:110009500-110009500
GRCh38: 12:109571695-109571695
42 MMAB NM_052845.4(MMAB):c.561C>T (p.Ala187=) SNV Conflicting interpretations of pathogenicity 307079 rs370773720 GRCh37: 12:109998868-109998868
GRCh38: 12:109561063-109561063
43 MMAB NM_052845.4(MMAB):c.522G>A (p.Ser174=) SNV Conflicting interpretations of pathogenicity 800237 rs545625368 GRCh37: 12:109998907-109998907
GRCh38: 12:109561102-109561102
44 MMAB NM_052845.4(MMAB):c.370G>A (p.Val124Ile) SNV Uncertain significance 859134 GRCh37: 12:109999636-109999636
GRCh38: 12:109561831-109561831
45 MMAB NM_052845.4(MMAB):c.44G>A (p.Arg15His) SNV Uncertain significance 859242 GRCh37: 12:110011242-110011242
GRCh38: 12:109573437-109573437
46 MMAB NM_052845.4(MMAB):c.401C>T (p.Ser134Leu) SNV Uncertain significance 881549 GRCh37: 12:109999605-109999605
GRCh38: 12:109561800-109561800
47 MMAB NM_052845.4(MMAB):c.583C>T (p.Arg195Cys) SNV Uncertain significance 643413 rs199853576 GRCh37: 12:109998846-109998846
GRCh38: 12:109561041-109561041
48 MMAB NM_052845.4(MMAB):c.402G>A (p.Ser134=) SNV Uncertain significance 658432 rs756766385 GRCh37: 12:109999604-109999604
GRCh38: 12:109561799-109561799
49 MMAB NM_052845.4(MMAB):c.406C>A (p.Arg136=) SNV Uncertain significance 663049 rs763783083 GRCh37: 12:109999600-109999600
GRCh38: 12:109561795-109561795
50 MMAB NM_052845.4(MMAB):c.394T>C (p.Cys132Arg) SNV Uncertain significance 378149 rs147457956 GRCh37: 12:109999612-109999612
GRCh38: 12:109561807-109561807

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

72
# 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

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 GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
10.7 STRA6 LIPC
2 9.95 MMACHC MMAB

GO Terms for Methylmalonic Aciduria, Cblb Type

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

# Name GO ID Score Top Affiliating Genes
1 cobalamin metabolic process GO:0009235 8.96 MMACHC MMAB
2 cobalamin biosynthetic process GO:0009236 8.62 MMACHC MMAB

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

# Name GO ID Score Top Affiliating Genes
1 cobalamin binding GO:0031419 8.62 MMACHC MMAB

Sources for Methylmalonic Aciduria, Cblb Type

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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