MCID: MTH077
MIFTS: 26

Methylmalonic Aciduria, Cbla Type

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

Aliases & Classifications for Methylmalonic Aciduria, Cbla Type

MalaCards integrated aliases for Methylmalonic Aciduria, Cbla Type:

Name: Methylmalonic Aciduria, Cbla Type 57 53
Methylmalonic Aciduria Cbla Type 53 29 6 73
Vitamin B12-Responsive Methylmalonic Acidemia Type Cbla 53 59
Vitamin B12-Responsive Methylmalonic Aciduria Type Cbla 53 59
Methylmalonic Aciduria, Vitamin B12-Responsive 57 13
Methylmalonic Aciduria, Vitamin B12-Responsive, Due to Defect in Synthesis of Adenosylcobalamin, Cbla Complementation Type 53
Methylmalonic Aciduria, Vitamin B12-Responsive, Due to Defect in Synthesis of Adenosylcobalamin, Cbla Type 57
Vitamin B12 Responsive Methylmalonic Acidemia Type Cbl a 75
Vitamin B12 Responsive Methylmalonic Aciduria Type Cbl a 75
Aciduria, Methylmalonic, Cbla Type 40
Methylmalonic Acidemia, Cbla Type 57
Methylmalonic Aciduria Type Cbla 75
Methylmalonic Acidemia Cbla Type 53
Methylmalonic Aciduria Type a 75
Mma Cbl a Type 53
Mmaa 75

Characteristics:

Orphanet epidemiological data:

59
vitamin b12-responsive methylmalonic acidemia type cbla
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
methylmalonic aciduria, cbla type:
Onset and clinical course infantile onset
Inheritance autosomal recessive inheritance


Classifications:



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)

MalaCards based summary : Methylmalonic Aciduria, Cbla Type, also known as methylmalonic aciduria cbla type, is related to methylmalonic aciduria, cblb type, and has symptoms including lethargy, seizures and tremor. An important gene associated with Methylmalonic Aciduria, Cbla Type is MMAA (Methylmalonic Aciduria (Cobalamin Deficiency) CblA Type). Related phenotypes are seizures and muscular hypotonia

UniProtKB/Swiss-Prot : 75 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:

# Related Disease Score Top Affiliating Genes
1 methylmalonic aciduria, cblb type 11.6

Symptoms & Phenotypes for Methylmalonic Aciduria, Cbla Type

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
seizures
tremor
coma
lethargy
developmental delay
more
Abdomen Liver:
hepatomegaly

Abdomen Gastrointestinal:
vomiting
poor feeding

Respiratory:
respiratory distress

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)

Laboratory Abnormalities:
hyperammonemia
methylmalonic aciduria
hyperglycinemia
methylmalonic acidemia
long-chain ketonuria
more

Clinical features from OMIM:

251100

Human phenotypes related to Methylmalonic Aciduria, Cbla Type:

32 (show all 26)
# Description HPO Frequency HPO Source Accession
1 seizures 32 HP:0001250
2 muscular hypotonia 32 HP:0001252
3 lethargy 32 HP:0001254
4 coma 32 HP:0001259
5 global developmental delay 32 HP:0001263
6 generalized hypotonia 32 HP:0001290
7 tremor 32 HP:0001337
8 failure to thrive 32 HP:0001508
9 thrombocytopenia 32 HP:0001873
10 neutropenia 32 HP:0001875
11 pancytopenia 32 HP:0001876
12 anemia 32 HP:0001903
13 metabolic acidosis 32 HP:0001942
14 dehydration 32 HP:0001944
15 ketosis 32 HP:0001946
16 hyperammonemia 32 HP:0001987
17 vomiting 32 HP:0002013
18 respiratory distress 32 HP:0002098
19 hyperglycinemia 32 HP:0002154
20 hepatomegaly 32 HP:0002240
21 methylmalonic acidemia 32 HP:0002912
22 ketonuria 32 HP:0002919
23 decreased adenosylcobalamin 32 HP:0003145
24 decreased methylmalonyl-coa mutase activity 32 HP:0003210
25 feeding difficulties in infancy 32 HP:0008872
26 methylmalonic aciduria 32 HP:0012120

UMLS symptoms related to Methylmalonic Aciduria, Cbla Type:


lethargy, seizures, tremor, vomiting, 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 Methylmalonic Aciduria Cbla Type 29 MMAA

Anatomical Context for Methylmalonic Aciduria, Cbla Type

Publications for Methylmalonic Aciduria, Cbla Type

Articles related to Methylmalonic Aciduria, Cbla Type:

# Title Authors Year
1
Novel mutation in an Indian patient with Methylmalonic Acidemia, cblA type. ( 23716945 )
2012

Variations for Methylmalonic Aciduria, Cbla Type

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

75 (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
16 MMAA p.Val220Met VAR_080020 rs150376474
17 MMAA p.Ile241Phe VAR_080021
18 MMAA p.Thr243Asn VAR_080022
19 MMAA p.Asp258Asn VAR_080024
20 MMAA p.Ala287Asp VAR_080025
21 MMAA p.Asp292Val VAR_080026
22 MMAA p.Gly399Val VAR_080030

ClinVar genetic disease variations for Methylmalonic Aciduria, Cbla Type:

6
(show top 50) (show all 88)
# Gene Variation Type Significance SNP ID Assembly Location
1 MMAA MMAA, 4-BP DEL, 592ACTG deletion Pathogenic
2 MMAA MMAA, 8-BP INS, NT260 insertion Pathogenic
3 MMAA NM_172250.2(MMAA): c.283C> T (p.Gln95Ter) single nucleotide variant Pathogenic rs104893846 GRCh37 Chromosome 4, 146560574: 146560574
4 MMAA NM_172250.2(MMAA): c.283C> T (p.Gln95Ter) single nucleotide variant Pathogenic rs104893846 GRCh38 Chromosome 4, 145639422: 145639422
5 MMAA NM_172250.2(MMAA): c.620A> G (p.Tyr207Cys) single nucleotide variant Pathogenic rs104893849 GRCh37 Chromosome 4, 146567195: 146567195
6 MMAA NM_172250.2(MMAA): c.620A> G (p.Tyr207Cys) single nucleotide variant Pathogenic rs104893849 GRCh38 Chromosome 4, 145646043: 145646043
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 MMAA NM_172250.2(MMAA): c.1034delT (p.Phe345Serfs) deletion Pathogenic rs398124552 GRCh37 Chromosome 4, 146576363: 146576363
10 MMAA NM_172250.2(MMAA): c.1034delT (p.Phe345Serfs) deletion Pathogenic rs398124552 GRCh38 Chromosome 4, 145655211: 145655211
11 MMAA NM_172250.2(MMAA): c.593_596delCTGA (p.Thr198Serfs) deletion Pathogenic rs796051993 GRCh37 Chromosome 4, 146567168: 146567171
12 MMAA NM_172250.2(MMAA): c.593_596delCTGA (p.Thr198Serfs) deletion Pathogenic rs796051993 GRCh38 Chromosome 4, 145646016: 145646019
13 MMAA NM_172250.2(MMAA): c.988C> T (p.Arg330Ter) single nucleotide variant Pathogenic rs571038432 GRCh38 Chromosome 4, 145655165: 145655165
14 MMAA NM_172250.2(MMAA): c.988C> T (p.Arg330Ter) single nucleotide variant Pathogenic rs571038432 GRCh37 Chromosome 4, 146576317: 146576317
15 MMAA NM_172250.2(MMAA): c.64C> T (p.Arg22Ter) single nucleotide variant Pathogenic rs765799472 GRCh38 Chromosome 4, 145639203: 145639203
16 MMAA NM_172250.2(MMAA): c.64C> T (p.Arg22Ter) single nucleotide variant Pathogenic rs765799472 GRCh37 Chromosome 4, 146560355: 146560355
17 MMAA NM_172250.2(MMAA): c.161G> A (p.Trp54Ter) single nucleotide variant Pathogenic rs864309725 GRCh38 Chromosome 4, 145639300: 145639300
18 MMAA NM_172250.2(MMAA): c.161G> A (p.Trp54Ter) single nucleotide variant Pathogenic rs864309725 GRCh37 Chromosome 4, 146560452: 146560452
19 MMAA NM_172250.2(MMAA): c.266T> C (p.Leu89Pro) single nucleotide variant Pathogenic rs864309726 GRCh38 Chromosome 4, 145639405: 145639405
20 MMAA NM_172250.2(MMAA): c.266T> C (p.Leu89Pro) single nucleotide variant Pathogenic rs864309726 GRCh37 Chromosome 4, 146560557: 146560557
21 MMAA NM_172250.2(MMAA): c.358C> T (p.Gln120Ter) single nucleotide variant Pathogenic rs864309727 GRCh38 Chromosome 4, 145639497: 145639497
22 MMAA NM_172250.2(MMAA): c.358C> T (p.Gln120Ter) single nucleotide variant Pathogenic rs864309727 GRCh37 Chromosome 4, 146560649: 146560649
23 MMAA NM_172250.2(MMAA): c.397C> T (p.Gln133Ter) single nucleotide variant Pathogenic rs754545360 GRCh38 Chromosome 4, 145639536: 145639536
24 MMAA NM_172250.2(MMAA): c.397C> T (p.Gln133Ter) single nucleotide variant Pathogenic rs754545360 GRCh37 Chromosome 4, 146560688: 146560688
25 MMAA NM_172250.2(MMAA): c.503delC (p.Thr168Metfs) deletion Pathogenic rs864309728 GRCh38 Chromosome 4, 145642426: 145642426
26 MMAA NM_172250.2(MMAA): c.503delC (p.Thr168Metfs) deletion Pathogenic rs864309728 GRCh37 Chromosome 4, 146563578: 146563578
27 MMAA NM_172250.2(MMAA): c.562G> C (p.Gly188Arg) single nucleotide variant Pathogenic rs864309729 GRCh38 Chromosome 4, 145642485: 145642485
28 MMAA NM_172250.2(MMAA): c.562G> C (p.Gly188Arg) single nucleotide variant Pathogenic rs864309729 GRCh37 Chromosome 4, 146563637: 146563637
29 MMAA NM_172250.2(MMAA): c.650T> A (p.Leu217Ter) single nucleotide variant Pathogenic rs140356252 GRCh37 Chromosome 4, 146567225: 146567225
30 MMAA NM_172250.2(MMAA): c.650T> A (p.Leu217Ter) single nucleotide variant Pathogenic rs140356252 GRCh38 Chromosome 4, 145646073: 145646073
31 MMAA NM_172250.2(MMAA): c.653G> A (p.Gly218Glu) single nucleotide variant Pathogenic rs864309730 GRCh37 Chromosome 4, 146567228: 146567228
32 MMAA NM_172250.2(MMAA): c.653G> A (p.Gly218Glu) single nucleotide variant Pathogenic rs864309730 GRCh38 Chromosome 4, 145646076: 145646076
33 MMAA NM_172250.2(MMAA): c.733+1G> A single nucleotide variant Pathogenic rs779939886 GRCh37 Chromosome 4, 146567309: 146567309
34 MMAA NM_172250.2(MMAA): c.733+1G> A single nucleotide variant Pathogenic rs779939886 GRCh38 Chromosome 4, 145646157: 145646157
35 MMAA NM_172250.2(MMAA): c.1076G> A (p.Arg359Gln) single nucleotide variant Pathogenic rs864309731 GRCh38 Chromosome 4, 145655253: 145655253
36 MMAA NM_172250.2(MMAA): c.1076G> A (p.Arg359Gln) single nucleotide variant Pathogenic rs864309731 GRCh37 Chromosome 4, 146576405: 146576405
37 MMAA NM_172250.2(MMAA): c.562+1G> A single nucleotide variant Pathogenic rs869320656 GRCh37 Chromosome 4, 146563638: 146563638
38 MMAA NM_172250.2(MMAA): c.562+1G> A single nucleotide variant Pathogenic rs869320656 GRCh38 Chromosome 4, 145642486: 145642486
39 MMAA NM_172250.2(MMAA): c.1025T> G (p.Met342Arg) single nucleotide variant Pathogenic rs869320657 GRCh37 Chromosome 4, 146576354: 146576354
40 MMAA NM_172250.2(MMAA): c.1025T> G (p.Met342Arg) single nucleotide variant Pathogenic rs869320657 GRCh38 Chromosome 4, 145655202: 145655202
41 MMAA NM_172250.2(MMAA): c.72C> A (p.Tyr24Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 4, 145639211: 145639211
42 MMAA NM_172250.2(MMAA): c.72C> A (p.Tyr24Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 4, 146560363: 146560363
43 MMAA NM_172250.2(MMAA): c.202C> T (p.Gln68Ter) single nucleotide variant Pathogenic rs754894257 GRCh38 Chromosome 4, 145639341: 145639341
44 MMAA NM_172250.2(MMAA): c.202C> T (p.Gln68Ter) single nucleotide variant Pathogenic rs754894257 GRCh37 Chromosome 4, 146560493: 146560493
45 MMAA NM_172250.2(MMAA): c.267_268delTT (p.Thr91Trpfs) deletion Pathogenic GRCh38 Chromosome 4, 145639406: 145639407
46 MMAA NM_172250.2(MMAA): c.267_268delTT (p.Thr91Trpfs) deletion Pathogenic GRCh37 Chromosome 4, 146560558: 146560559
47 MMAA NM_172250.2(MMAA): c.290_296delAAAGGGC (p.Gln97Profs) deletion Pathogenic GRCh38 Chromosome 4, 145639429: 145639435
48 MMAA NM_172250.2(MMAA): c.290_296delAAAGGGC (p.Gln97Profs) deletion Pathogenic GRCh37 Chromosome 4, 146560581: 146560587
49 MMAA NM_172250.2(MMAA): c.298_312delTGTTTAGCAGAGGCC (p.Cys100_Ala104del) deletion Pathogenic rs780082584 GRCh38 Chromosome 4, 145639437: 145639451
50 MMAA NM_172250.2(MMAA): c.298_312delTGTTTAGCAGAGGCC (p.Cys100_Ala104del) deletion Pathogenic rs780082584 GRCh37 Chromosome 4, 146560589: 146560603

Expression for Methylmalonic Aciduria, Cbla Type

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

Pathways for Methylmalonic Aciduria, Cbla Type

GO Terms for Methylmalonic Aciduria, Cbla Type

Sources for Methylmalonic Aciduria, Cbla Type

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