MMAA
MCID: MTH077
MIFTS: 45

Methylmalonic Aciduria, Cbla Type (MMAA)

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

Aliases & Classifications for Methylmalonic Aciduria, Cbla Type

MalaCards integrated aliases for Methylmalonic Aciduria, Cbla Type:

Name: Methylmalonic Aciduria, Cbla Type 57 20
Vitamin B12-Responsive Methylmalonic Acidemia Type Cbla 20 58 29 6
Methylmalonic Acidemia Cbla Type 12 20 15
Methylmalonic Aciduria Cbla Type 12 20 70
Vitamin B12-Responsive Methylmalonic Aciduria Type Cbla 20 58
Methylmalonic Aciduria, Vitamin B12-Responsive, Due to Defect in Synthesis of Adenosylcobalamin, Cbla Complementation Type 20
Methylmalonic Aciduria, Vitamin B12-Responsive, Due to Defect in Synthesis of Adenosylcobalamin, Cbla Type 57
Methylmalonic Aciduria, Vitamin B12-Responsive Due to a Defect in Synthesis of Adenosylcobalamin Cb1a Type 12
Methylmalonic Aciduria, Vitamin B12-Responsive, Cbla Type 57
Vitamin B12 Responsive Methylmalonic Acidemia Type Cbl a 72
Vitamin B12 Responsive Methylmalonic Aciduria Type Cbl a 72
Aciduria, Methylmalonic, Cbla Type 39
Methylmalonic Aciduria Cbla Type 17
Methylmalonic Acidemia, Cbla Type 57
Methylmalonic Aciduria Type Cbla 72
Methylmalonic Aciduria Type a 72
Mma Cbl a Type 20
Mmaa 72

Characteristics:

Orphanet epidemiological data:

58
vitamin b12-responsive methylmalonic acidemia type cbla
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy
responsive to vitamin b12 therapy
see also mmab


HPO:

31
methylmalonic aciduria, cbla type:
Inheritance autosomal recessive inheritance
Onset and clinical course infantile onset


Classifications:

Orphanet: 58  
Rare renal diseases
Inborn errors of metabolism


Summaries for Methylmalonic Aciduria, Cbla 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 cblA and cblB (251110), which is caused by mutation in the MMAB gene (607568) on 12q24. See also cblH (277410), which may be a subset of cblA. The 'mut' form of MMA (251000) is caused by mutation in the MUT gene on chromosome 6p. 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), cblF (277380), and cblJ (614857). (251100) (Updated 05-Apr-2021)

MalaCards based summary : Methylmalonic Aciduria, Cbla Type, also known as vitamin b12-responsive methylmalonic acidemia type cbla, is related to adenosylcobalamin deficiency and glutaric acidemia i, and has symptoms including seizures, tremor and vomiting. An important gene associated with Methylmalonic Aciduria, Cbla Type is MMAA (Metabolism Of Cobalamin Associated A), and among its related pathways/superpathways are Metabolism and Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha). Affiliated tissues include kidney, and related phenotypes are failure to thrive and tremor

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 MMAA gene on chromosome 4q31.

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

Related Diseases for Methylmalonic Aciduria, Cbla Type

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

(show all 40)
# Related Disease Score Top Affiliating Genes
1 adenosylcobalamin deficiency 32.2 MMAB MMAA
2 glutaric acidemia i 31.2 MMADHC MMAA
3 isovaleric acidemia 31.0 MMUT MMAA
4 biotinidase deficiency 30.9 MMUT MMAA
5 methylmalonic aciduria and homocystinuria, cblc type 30.9 MMUT MMADHC MMAB MMAA
6 megaloblastic anemia 30.7 MMUT MMADHC MMAA
7 maple syrup urine disease 30.7 MMUT MMADHC MMAA
8 vitamin metabolic disorder 30.4 MMUT MMADHC MMAB MMAA
9 amino acid metabolic disorder 30.4 MMUT MMADHC MMAB MMAA
10 propionic acidemia 30.4 MMUT MMADHC MMAB MMAA MCEE
11 organic acidemia 30.1 MMUT MMADHC MMAB MMAA MCEE
12 isolated methylmalonic acidemia 29.3 MMUT MMADHC MMAB MMAA MCEE
13 methylmalonic acidemia 29.3 MMUT MMADHC MMAB MMAA MCEE
14 3-methylglutaconic aciduria, type iii 11.0
15 deficiency anemia 11.0
16 methylmalonic aciduria due to methylmalonyl-coa mutase deficiency 10.9
17 methylmalonic aciduria, cblb type 10.9
18 methylmalonic aciduria and homocystinuria, cbld type 10.9
19 acyl-coa dehydrogenase, very long-chain, deficiency of 10.8
20 alpha-methylacetoacetic aciduria 10.8
21 glutamate formiminotransferase deficiency 10.8
22 glycogen storage disease ixc 10.8
23 glycogen storage disease ix 10.8
24 3-methylcrotonyl-coa carboxylase deficiency 10.8
25 combined malonic and methylmalonic aciduria 10.0 MMADHC MMAB
26 acute gonococcal prostatitis 10.0 TPO TBL1X
27 microcephaly and chorioretinopathy 1 10.0 TPO TBL1X
28 short-rib thoracic dysplasia 14 with polydactyly 9.9 TPO TBL1X
29 iodine hypothyroidism 9.9 TPO ENO1
30 agenesis of corpus callosum, cardiac, ocular, and genital syndrome 9.9
31 metabolic acidosis 9.9
32 inherited metabolic disorder 9.9
33 chronic kidney disease 9.9
34 ectodermal dysplasia 6, hair/nail type 9.9 TBL1X ENO1
35 ectodermal dysplasia 5, hair/nail type 9.9 TBL1X ENO1
36 ectodermal dysplasia 9, hair/nail type 9.9 TBL1X ENO1
37 ectodermal dysplasia 7, hair/nail type 9.8 TBL1X ENO1
38 limbic encephalitis 9.7 TPO ENO1
39 homocystinuria 9.6 MMUT MMADHC MMAB
40 hashimoto thyroiditis 9.6 TPO ENO1

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



Diseases related to Methylmalonic Aciduria, Cbla Type

Symptoms & Phenotypes for Methylmalonic Aciduria, Cbla Type

Human phenotypes related to Methylmalonic Aciduria, Cbla Type:

31 (show all 26)
# Description HPO Frequency HPO Source Accession
1 failure to thrive 31 HP:0001508
2 tremor 31 HP:0001337
3 global developmental delay 31 HP:0001263
4 hepatomegaly 31 HP:0002240
5 feeding difficulties in infancy 31 HP:0008872
6 dehydration 31 HP:0001944
7 vomiting 31 HP:0002013
8 anemia 31 HP:0001903
9 thrombocytopenia 31 HP:0001873
10 neutropenia 31 HP:0001875
11 hyperammonemia 31 HP:0001987
12 lethargy 31 HP:0001254
13 metabolic acidosis 31 HP:0001942
14 coma 31 HP:0001259
15 respiratory distress 31 HP:0002098
16 methylmalonic aciduria 31 HP:0012120
17 pancytopenia 31 HP:0001876
18 generalized hypotonia 31 HP:0001290
19 methylmalonic acidemia 31 HP:0002912
20 ketonuria 31 HP:0002919
21 ketosis 31 HP:0001946
22 hyperglycinemia 31 HP:0002154
23 decreased adenosylcobalamin 31 HP:0003145
24 seizure 31 HP:0001250
25 hypotonia 31 HP:0001252
26 decreased methylmalonyl-coa mutase activity 31 HP:0003210

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
seizures
tremor
lethargy
coma
hypotonia
more
Abdomen Liver:
hepatomegaly

Abdomen Gastrointestinal:
vomiting
poor feeding

Laboratory Abnormalities:
hyperammonemia
methylmalonic aciduria
methylmalonic acidemia
hyperglycinemia
long-chain ketonuria
more
Growth Other:
failure to thrive

Metabolic Features:
dehydration
metabolic acidosis
ketosis
ketosis is exacerbated by protein ingestion

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

Respiratory:
respiratory distress

Clinical features from OMIM®:

251100 (Updated 05-Apr-2021)

UMLS symptoms related to Methylmalonic Aciduria, Cbla Type:


seizures; tremor; vomiting; lethargy; respiratory distress

Drugs & Therapeutics for Methylmalonic Aciduria, Cbla Type

Search Clinical Trials , NIH Clinical Center for Methylmalonic Aciduria, Cbla Type

Genetic Tests for Methylmalonic Aciduria, Cbla Type

Genetic tests related to Methylmalonic Aciduria, Cbla Type:

# Genetic test Affiliating Genes
1 Vitamin B12-Responsive Methylmalonic Acidemia Type Cbla 29 MMAA

Anatomical Context for Methylmalonic Aciduria, Cbla Type

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

40
Kidney

Publications for Methylmalonic Aciduria, Cbla Type

Articles related to Methylmalonic Aciduria, Cbla Type:

(show all 27)
# Title Authors PMID Year
1
Identification of the gene responsible for the cblA complementation group of vitamin B12-responsive methylmalonic acidemia based on analysis of prokaryotic gene arrangements. 6 57
12438653 2002
2
Protein destabilization and loss of protein-protein interaction are fundamental mechanisms in cblA-type methylmalonic aciduria. 6
28497574 2017
3
Targeted exome sequencing for the identification of complementation groups in methylmalonic aciduria: A south Indian experience. 6
27591164 2017
4
Vitamin B12 Administration by Subcutaneous Catheter Device in a Cobalamin A (cblA) Patient. 6
27858373 2017
5
A critical reappraisal of dietary practices in methylmalonic acidemia raises concerns about the safety of medical foods. Part 1: isolated methylmalonic acidemias. 6
26270765 2016
6
[Detection of pathogenic mutations for methylmalonic acidemia using new-generation semiconductor targeted sequencing]. 6
25636100 2015
7
[Acute encephalopathy induced by vaccination in an infant with methylmalonic aciduria cblA]. 6
25748407 2015
8
RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 6
25525159 2015
9
Pregnancy in a methylmalonic acidemia patient with kidney transplantation: a case report. 6
23711287 2013
10
High resolution melting analysis of the MMAA gene in patients with cblA and in those with undiagnosed methylmalonic aciduria. 6
23026888 2012
11
Methylmalonic acidemia mimicking diabetic ketoacidosis in an infant. 6
21545677 2012
12
Neurocognitive phenotype of isolated methylmalonic acidemia. 6
22614770 2012
13
The molecular landscape of propionic acidemia and methylmalonic aciduria in Latin America. 6
20549364 2010
14
Methylmalonic acidaemia: examination of genotype and biochemical data in 32 patients belonging to mut, cblA or cblB complementation group. 6
17957493 2008
15
Renal transplantation in a 14-year-old girl with vitamin B12-responsive cblA-type methylmalonic acidaemia. 6
16247646 2006
16
Genetic analysis of three genes causing isolated methylmalonic acidemia: identification of 21 novel allelic variants. 6
15781192 2005
17
Mutations in the MMAA gene in patients with the cblA disorder of vitamin B12 metabolism. 6
15523652 2004
18
Mutation analysis of the MMAA and MMAB genes in Japanese patients with vitamin B(12)-responsive methylmalonic acidemia: identification of a prevalent MMAA mutation. 6
15308131 2004
19
The natural history of the inherited methylmalonic acidemias. 57
6132336 1983
20
Methylmalonic aciduria: a variant form of methylmalonyl coenzyme A apomutase deficiency. 57
19569 1977
21
Prenatal therapy of a patient with vitamin-B12-responsive methylmalonic acidemia. 57
239344 1975
22
Genetic complementation in heterokaryons of human fibroblasts defective in cobalamin metabolism. 57
1059104 1975
23
Methylmalonicacidemia: biochemical heterogeneity in defects of 5'-deoxyadenosylcobalamin synthesis. 57
1058495 1975
24
Vitamin B12 dependent methylmalonicaciduria: defective B12 metabolism in cultured fibroblasts. 57
5353892 1969
25
Methylmalonic aciduria: metabolic block localization and vitamin B 12 dependency. 57
5686220 1968
26
Methylmalonic aciduria. An inborn error leading to metabolic acidosis, long-chain ketonuria and intermittent hyperglycinemia. 57
5648598 1968
27
Clinical picture and treatment effects in 5 patients with Methylmalonic aciduria related to MMAA mutations. 61
31921599 2020

Variations for Methylmalonic Aciduria, Cbla Type

ClinVar genetic disease variations for Methylmalonic Aciduria, Cbla Type:

6 (show top 50) (show all 235)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 MMAA NM_172250.3(MMAA):c.503del (p.Thr168fs) Deletion Pathogenic 218974 rs864309728 GRCh37: 4:146563578-146563578
GRCh38: 4:145642426-145642426
2 MMAA NM_172250.3(MMAA):c.562+1G>A SNV Pathogenic 225188 rs869320656 GRCh37: 4:146563638-146563638
GRCh38: 4:145642486-145642486
3 MMAA NM_172250.3(MMAA):c.1025T>G (p.Met342Arg) SNV Pathogenic 225189 rs869320657 GRCh37: 4:146576354-146576354
GRCh38: 4:145655202-145655202
4 MMAA NM_172250.3(MMAA):c.441dup (p.Leu148fs) Duplication Pathogenic 440800 rs1553958126 GRCh37: 4:146563515-146563516
GRCh38: 4:145642363-145642364
5 MMAA NM_172250.3(MMAA):c.575G>A (p.Gly192Asp) SNV Pathogenic 440803 rs1553958392 GRCh37: 4:146567150-146567150
GRCh38: 4:145645998-145645998
6 MMAA NM_172250.3(MMAA):c.658G>A (p.Val220Met) SNV Pathogenic 440805 rs150376474 GRCh37: 4:146567233-146567233
GRCh38: 4:145646081-145646081
7 MMAA NM_172250.3(MMAA):c.820-1G>A SNV Pathogenic 440808 rs1553959017 GRCh37: 4:146575145-146575145
GRCh38: 4:145653993-145653993
8 MMAA NM_172250.3(MMAA):c.1034del (p.Phe345fs) Deletion Pathogenic 96532 rs398124552 GRCh37: 4:146576361-146576361
GRCh38: 4:145655209-145655209
9 MMAA NM_172250.3(MMAA):c.290_296del (p.Gln97fs) Deletion Pathogenic 440798 rs1553957907 GRCh37: 4:146560575-146560581
GRCh38: 4:145639423-145639429
10 MMAA NM_172250.3(MMAA):c.721A>T (p.Ile241Phe) SNV Pathogenic 440806 rs756221585 GRCh37: 4:146567296-146567296
GRCh38: 4:145646144-145646144
11 MMAA NM_172250.3(MMAA):c.455del (p.Pro152fs) Deletion Pathogenic 440801 rs1553958127 GRCh37: 4:146563526-146563526
GRCh38: 4:145642374-145642374
12 MMAA NM_172250.3(MMAA):c.860C>A (p.Ala287Asp) SNV Pathogenic 440809 rs1553959024 GRCh37: 4:146575186-146575186
GRCh38: 4:145654034-145654034
13 MMAA NM_172250.3(MMAA):c.1196_1197delinsTT (p.Gly399Val) Indel Pathogenic 440811 rs1553959152 GRCh37: 4:146576525-146576526
GRCh38: 4:145655373-145655374
14 MMAA NM_172250.3(MMAA):c.202C>T (p.Gln68Ter) SNV Pathogenic 440796 rs754894257 GRCh37: 4:146560493-146560493
GRCh38: 4:145639341-145639341
15 MMAA NM_172250.3(MMAA):c.298_312del (p.Cys100_Ala104del) Deletion Pathogenic 440799 rs780082584 GRCh37: 4:146560585-146560599
GRCh38: 4:145639433-145639447
16 MMAA NM_172250.3(MMAA):c.525_526TG[1] (p.Val176fs) Microsatellite Pathogenic 440802 rs1553958158 GRCh37: 4:146563600-146563601
GRCh38: 4:145642448-145642449
17 MMAA NM_172250.3(MMAA):c.651dup (p.Gly218fs) Duplication Pathogenic 440804 rs1314623572 GRCh37: 4:146567225-146567226
GRCh38: 4:145646073-145646074
18 MMAA NM_172250.3(MMAA):c.728C>A (p.Thr243Asn) SNV Pathogenic 440807 rs1553958417 GRCh37: 4:146567303-146567303
GRCh38: 4:145646151-145646151
19 MMAA NM_172250.3(MMAA):c.875A>T (p.Asp292Val) SNV Pathogenic 440810 rs1553959025 GRCh37: 4:146575201-146575201
GRCh38: 4:145654049-145654049
20 MMAA NM_172250.3(MMAA):c.267_268del (p.Thr91fs) Deletion Pathogenic 440797 rs1553957906 GRCh37: 4:146560557-146560558
GRCh38: 4:145639405-145639406
21 MMAA NM_172250.3(MMAA):c.551dup (p.Cys184fs) Duplication Pathogenic 554640 rs1553958159 GRCh37: 4:146563625-146563626
GRCh38: 4:145642473-145642474
22 MMAA NM_172250.3(MMAA):c.970-2A>T SNV Pathogenic 555331 rs1553959113 GRCh37: 4:146576297-146576297
GRCh38: 4:145655145-145655145
23 MMAA NM_172250.3(MMAA):c.137_138CT[1] (p.Leu47fs) Microsatellite Pathogenic 570176 rs1560795828 GRCh37: 4:146560427-146560428
GRCh38: 4:145639275-145639276
24 MMAA NM_172250.3(MMAA):c.762dup (p.Asp255Ter) Duplication Pathogenic 849500 GRCh37: 4:146572241-146572242
GRCh38: 4:145651089-145651090
25 MMAA NC_000004.12:g.(?_145639120)_(145642505_?)del Deletion Pathogenic 830599 GRCh37: 4:146560272-146563657
GRCh38:
26 MMAA NM_172250.3(MMAA):c.1229T>A (p.Leu410Ter) SNV Pathogenic 915363 GRCh37: 4:146576558-146576558
GRCh38: 4:145655406-145655406
27 MMAA NM_172250.3(MMAA):c.314dup (p.Thr106fs) Duplication Pathogenic 961272 GRCh37: 4:146560604-146560605
GRCh38: 4:145639452-145639453
28 MMAA NM_172250.3(MMAA):c.697G>T (p.Gly233Ter) SNV Pathogenic 962079 GRCh37: 4:146567272-146567272
GRCh38: 4:145646120-145646120
29 MMAA NM_172250.3(MMAA):c.450dup (p.Pro151fs) Duplication Pathogenic 551182 rs754973022 GRCh37: 4:146563522-146563523
GRCh38: 4:145642370-145642371
30 MMAA NM_172250.3(MMAA):c.742C>T (p.Gln248Ter) SNV Pathogenic 496554 rs757548934 GRCh37: 4:146572222-146572222
GRCh38: 4:145651070-145651070
31 MMAA NM_172250.3(MMAA):c.72C>A (p.Tyr24Ter) SNV Pathogenic 440795 rs1553957883 GRCh37: 4:146560363-146560363
GRCh38: 4:145639211-145639211
32 MMAA MMAA, 8-BP INS, NT260 Insertion Pathogenic 3157 GRCh37:
GRCh38:
33 MMAA NM_172250.3(MMAA):c.620A>G (p.Tyr207Cys) SNV Pathogenic 3159 rs104893849 GRCh37: 4:146567195-146567195
GRCh38: 4:145646043-145646043
34 MMAA NM_172250.3(MMAA):c.283C>T (p.Gln95Ter) SNV Pathogenic 3158 rs104893846 GRCh37: 4:146560574-146560574
GRCh38: 4:145639422-145639422
35 MMAA NM_172250.3(MMAA):c.358C>T (p.Gln120Ter) SNV Pathogenic 218972 rs864309727 GRCh37: 4:146560649-146560649
GRCh38: 4:145639497-145639497
36 MMAA NM_172250.3(MMAA):c.653G>A (p.Gly218Glu) SNV Pathogenic 218977 rs864309730 GRCh37: 4:146567228-146567228
GRCh38: 4:145646076-145646076
37 MMAA NM_172250.3(MMAA):c.1076G>A (p.Arg359Gln) SNV Pathogenic 218979 rs864309731 GRCh37: 4:146576405-146576405
GRCh38: 4:145655253-145655253
38 MMAA NM_172250.3(MMAA):c.397C>T (p.Gln133Ter) SNV Pathogenic 218973 rs754545360 GRCh37: 4:146560688-146560688
GRCh38: 4:145639536-145639536
39 MMAA NM_172250.3(MMAA):c.593_596del (p.Thr198fs) Deletion Pathogenic 203815 rs796051993 GRCh37: 4:146567165-146567168
GRCh38: 4:145646013-145646016
40 MMAA NM_172250.3(MMAA):c.562G>C (p.Gly188Arg) SNV Pathogenic 218975 rs864309729 GRCh37: 4:146563637-146563637
GRCh38: 4:145642485-145642485
41 MMAA NM_172250.3(MMAA):c.64C>T (p.Arg22Ter) SNV Pathogenic 218969 rs765799472 GRCh37: 4:146560355-146560355
GRCh38: 4:145639203-145639203
42 MMAA NM_172250.3(MMAA):c.988C>T (p.Arg330Ter) SNV Pathogenic 203816 rs571038432 GRCh37: 4:146576317-146576317
GRCh38: 4:145655165-145655165
43 MMAA NM_172250.3(MMAA):c.586C>T (p.Arg196Ter) SNV Pathogenic 466217 rs1029096863 GRCh37: 4:146567161-146567161
GRCh38: 4:145646009-145646009
44 MMAA NM_172250.3(MMAA):c.1075C>T (p.Arg359Ter) SNV Pathogenic 466216 rs999844958 GRCh37: 4:146576404-146576404
GRCh38: 4:145655252-145655252
45 MMAA NM_172250.3(MMAA):c.387C>A (p.Tyr129Ter) SNV Pathogenic 203814 rs796051992 GRCh37: 4:146560678-146560678
GRCh38: 4:145639526-145639526
46 MMAA NM_172250.3(MMAA):c.433C>T (p.Arg145Ter) SNV Pathogenic/Likely pathogenic 3160 rs104893851 GRCh37: 4:146560724-146560724
GRCh38: 4:145639572-145639572
47 MMAA NM_172250.3(MMAA):c.733+1G>A SNV Pathogenic/Likely pathogenic 218978 rs779939886 GRCh37: 4:146567309-146567309
GRCh38: 4:145646157-145646157
48 MMAA NM_172250.3(MMAA):c.124C>T (p.Gln42Ter) SNV Likely pathogenic 554217 rs758345818 GRCh37: 4:146560415-146560415
GRCh38: 4:145639263-145639263
49 MMAA NM_172250.3(MMAA):c.952C>T (p.Gln318Ter) SNV Likely pathogenic 554664 rs751717131 GRCh37: 4:146575278-146575278
GRCh38: 4:145654126-145654126
50 MMAA NM_172250.3(MMAA):c.594dup (p.Glu199Ter) Duplication Likely pathogenic 556203 rs1553958395 GRCh37: 4:146567168-146567169
GRCh38: 4:145646016-145646017

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

72 (show all 22)
# Symbol AA change Variation ID SNP ID
1 MMAA p.Tyr207Cys VAR_017202 rs104893849
2 MMAA p.Leu89Pro VAR_020835 rs864309726
3 MMAA p.Arg145Gln VAR_020836 rs200577967
4 MMAA p.Gly218Glu VAR_020837 rs864309730
5 MMAA p.Arg359Gln VAR_020838 rs864309731
6 MMAA p.Arg359Gly VAR_038804
7 MMAA p.Arg209Ser VAR_071919
8 MMAA p.Glu250Lys VAR_071920
9 MMAA p.Gly274Asp VAR_071921
10 MMAA p.Gly274Ser VAR_071922
11 MMAA p.Lys276Glu VAR_071923
12 MMAA p.Arg98Gly VAR_080009
13 MMAA p.Gly147Glu VAR_080015
14 MMAA p.Gly188Arg VAR_080016 rs864309729
15 MMAA p.Gly192Asp VAR_080017 rs155395839
16 MMAA p.Val220Met VAR_080020 rs150376474
17 MMAA p.Ile241Phe VAR_080021
18 MMAA p.Thr243Asn VAR_080022 rs155395841
19 MMAA p.Asp258Asn VAR_080024
20 MMAA p.Ala287Asp VAR_080025 rs155395902
21 MMAA p.Asp292Val VAR_080026 rs155395902
22 MMAA p.Gly399Val VAR_080030

Expression for Methylmalonic Aciduria, Cbla Type

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

Pathways for Methylmalonic Aciduria, Cbla Type

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

(show all 13)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.41 TPO TBL1X MMUT MMADHC MMAB MMAA
2
Show member pathways
12.48 TBL1X MMUT MMAA MCEE
3
Show member pathways
12.27 MMUT MMADHC MMAB MMAA
4
Show member pathways
11.97 MMUT MMAB MCEE
5
Show member pathways
11.94 MMUT MCEE ENO1
6
Show member pathways
11.6 MMUT MCEE
7 11.47 TPO MMUT
8
Show member pathways
11.47 MMUT MMADHC MMAA
9
Show member pathways
11.25 MMUT MMAA MCEE
10 11.03 MMUT MCEE
11 10.95 MMUT MCEE
12 10.25 MMUT MMADHC MMAB MMAA
13
Show member pathways
9.56 MMUT MMAA

GO Terms for Methylmalonic Aciduria, Cbla Type

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

# Name GO ID Score Top Affiliating Genes
1 mitochondrion GO:0005739 9.35 MMUT MMADHC MMAB MMAA MCEE
2 mitochondrial matrix GO:0005759 8.92 MMUT MMAB MMAA MCEE

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

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

Sources for Methylmalonic Aciduria, Cbla 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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