MCID: CMB011
MIFTS: 26

Combined Malonic and Methylmalonic Aciduria malady

Genetic diseases, Rare diseases categories
Download this MalaCard

Summaries for Combined Malonic and Methylmalonic Aciduria

About this section
Sources:
21Genetics Home Reference, 43NIH Rare Diseases, 47OMIM, 33MalaCards
See all sources

Fully expand this MalaCard
NIH Rare Diseases:43 Combined malonic and methylmalonic aciduria (cmamma) is an inherited condition in which certain chemicals accumulate in the blood and urine of affected individuals. people with cmamma can have a wide variety of symptoms. children with cmamma can suffer from developmental delays and a failure to gain weight and grow (failure to thrive). in those who were identified as adults, symptoms may include psychiatric features and neurological problems that can mimic alzheimer's disease and multiple sclerosis. recently, researchers have found that mutations in the acsf3 gene cause cmamma. last updated: 1/17/2012

MalaCards: Combined Malonic and Methylmalonic Aciduria, is also known as cmamma An important gene associated with Combined Malonic and Methylmalonic Aciduria is ACSF3 (acyl-CoA synthetase family member 3). The compounds acetyl-coa and Propionyl-CoA have been mentioned in the context of this disorder.

Genetics Home Reference:21 Combined malonic and methylmalonic aciduria (CMAMMA) is a condition characterized by high levels of certain chemicals, known as malonic acid and methylmalonic acid, in the body. A distinguishing feature of this condition is higher levels of methylmalonic acid than malonic acid in the urine, although both are elevated.

Description from OMIM:47 614265

Aliases & Classifications for Combined Malonic and Methylmalonic Aciduria

About this section
Sources:
43NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 47OMIM, 49Orphanet, 26ICD10 via Orphanet
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases


Characteristics (Orphanet epidemiological data):

49
combined malonic and methylmalonic aciduria:
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Variable


Aliases & Descriptions:

combined malonic and methylmalonic aciduria 43 20 22 21 47 49
cmamma 43 21 49
combined malonic and methylmalonic acidemia 49


External Ids:

OMIM47 614265
ICD10 via Orphanet26 E71.1

Related Diseases for Combined Malonic and Methylmalonic Aciduria

About this section

Symptoms for Combined Malonic and Methylmalonic Aciduria

About this section
Sources:
47OMIM
See all sources


Clinical features from OMIM:

614265

Drugs & Therapeutics for Combined Malonic and Methylmalonic Aciduria

About this section
Sources:
42NIH Clinical Center, 6ClinicalTrials
See all sources

Drug clinical trials:

Search ClinicalTrials for Combined Malonic and Methylmalonic Aciduria

Search NIH Clinical Center for Combined Malonic and Methylmalonic Aciduria

Genetic Tests for Combined Malonic and Methylmalonic Aciduria

About this section
Sources:
20GeneTests, 22GTR
See all sources

Genetic tests related to Combined Malonic and Methylmalonic Aciduria:

id Genetic test Affiliating Genes
1 Combined Malonic and Methylmalonic Aciduria20 22 ACSF3

Anatomical Context for Combined Malonic and Methylmalonic Aciduria

About this section

Animal Models for Combined Malonic and Methylmalonic Aciduria or affiliated genes

About this section

Publications for Combined Malonic and Methylmalonic Aciduria

About this section
Sources:
52PubMed
See all sources

Articles related to Combined Malonic and Methylmalonic Aciduria:

idTitleAuthorsYear
1
Exome sequencing identifies ACSF3 as a cause of combined malonic and methylmalonic aciduria. (21841779)
2011
2
Combined malonic and methylmalonic aciduria: exome sequencing reveals mutations in the ACSF3 gene in patients with a non-classic phenotype. (21785126)
2011
3
Combined malonic and methylmalonic aciduria with normal malonyl-coenzyme A decarboxylase activity: a case supporting multiple aetiologies. (9700595)
1998

Variations for Combined Malonic and Methylmalonic Aciduria

About this section
Sources:
64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 7dbSNP
See all sources

UniProtKB/Swiss-Prot genetic disease variations for Combined Malonic and Methylmalonic Aciduria:

64
id Symbol AA change Variation ID SNP ID
1ACSF3p.Met198ArgVAR_066504
2ACSF3p.Pro243LeuVAR_066505rs140986055
3ACSF3p.Thr358IleVAR_066506
4ACSF3p.Glu359LysVAR_066507rs150487794
5ACSF3p.Lys462ThrVAR_066508
6ACSF3p.Arg471GlnVAR_066510
7ACSF3p.Arg471TrpVAR_066511rs138680796
8ACSF3p.Gly480SerVAR_066512
9ACSF3p.Arg558TrpVAR_066513rs141090143

Clinvar genetic disease variations for Combined Malonic and Methylmalonic Aciduria:

1
id Gene Name Type Significance SNP ID Assembly Location
1ACSF3NM_174917.4(ACSF3): c.1672C> T (p.Arg558Trp)single nucleotide variantPathogenicrs141090143GRCh37Chr 16, 89220556: 89220556
2ACSF3NM_174917.4(ACSF3): c.1567C> T (p.Arg523Ter)single nucleotide variantPathogenicrs387907118GRCh37Chr 16, 89212411: 89212411
3ACSF3NM_174917.4(ACSF3): c.1075G> A (p.Glu359Lys)single nucleotide variantPathogenicrs150487794GRCh37Chr 16, 89180844: 89180844
4ACSF3NM_174917.4(ACSF3): c.1411C> T (p.Arg471Trp)single nucleotide variantPathogenicrs138680796GRCh37Chr 16, 89211719: 89211719
5ACSF3NM_174917.4(ACSF3): c.1412G> A (p.Arg471Gln)single nucleotide variantPathogenicrs387907119GRCh37Chr 16, 89211720: 89211720
6ACSF3NM_174917.4(ACSF3): c.1073C> T (p.Thr358Ile)single nucleotide variantPathogenicrs387907120GRCh37Chr 16, 89180842: 89180842
7ACSF3NM_174917.4(ACSF3): c.728C> T (p.Pro243Leu)single nucleotide variantPathogenicrs140986055GRCh37Chr 16, 89169073: 89169073
8ACSF3NM_174917.4(ACSF3): c.593T> G (p.Met198Arg)single nucleotide variantPathogenicrs387907121GRCh37Chr 16, 89167682: 89167682
9ACSF3ACSF3, LYS462THR AND GLY465_GLY470 DELdeletionPathogenic

Expression for genes affiliated with Combined Malonic and Methylmalonic Aciduria

About this section
Sources:
2BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Combined Malonic and Methylmalonic Aciduria

Search GEO for disease gene expression data for Combined Malonic and Methylmalonic Aciduria.

Pathways for genes affiliated with Combined Malonic and Methylmalonic Aciduria

About this section

Compounds for genes affiliated with Combined Malonic and Methylmalonic Aciduria

About this section
Sources:
45Novoseek, 24HMDB
See all sources

Compounds related to Combined Malonic and Methylmalonic Aciduria according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1acetyl-coa45 2410.1ACSF3, MLYCD
2Propionyl-CoA248.8ACSF3, MLYCD

GO Terms for genes affiliated with Combined Malonic and Methylmalonic Aciduria

About this section
Sources:
16Gene Ontology
See all sources

Cellular components related to Combined Malonic and Methylmalonic Aciduria according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1mitochondrionGO:0057399.1ACSF3, MLYCD

Biological processes related to Combined Malonic and Methylmalonic Aciduria according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1fatty acid biosynthetic processGO:0066339.1ACSF3, MLYCD

Products for genes affiliated with Combined Malonic and Methylmalonic Aciduria

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Combined Malonic and Methylmalonic Aciduria

About this section
4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet