MCID: CMB011
MIFTS: 27

Combined Malonic and Methylmalonic Aciduria malady

Genetic diseases, Rare diseases, Metabolic diseases categories
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Summaries for Combined Malonic and Methylmalonic Aciduria

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NIH Rare Diseases:42 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 based summary: Combined Malonic and Methylmalonic Aciduria, is also known as cmamma and has symptoms including 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:46 614265

Aliases & Classifications for Combined Malonic and Methylmalonic Aciduria

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Sources:
42NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 46OMIM, 48Orphanet, 62UMLS, 26ICD10 via Orphanet
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Combined Malonic and Methylmalonic Aciduria, Aliases & Descriptions:

Name: Combined Malonic and Methylmalonic Aciduria 42 20 22 21 46 48
Cmamma 42 21 48 62
 
Combined Malonic and Methylmalonic Acidemia 48


Classifications:



Characteristics (Orphanet epidemiological data):

48
combined malonic and methylmalonic aciduria:
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Variable


External Ids:

OMIM46 614265
ICD10 via Orphanet26 E71.1

Related Diseases for Combined Malonic and Methylmalonic Aciduria

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Symptoms for Combined Malonic and Methylmalonic Aciduria

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Clinical features from OMIM:

614265

HPO human phenotypes related to Combined Malonic and Methylmalonic Aciduria:

(show all 9)
id Description Frequency HPO Source Accession
1 autosomal recessive inheritance HP:0000007
2 global developmental delay HP:0001263
3 failure to thrive HP:0001508
4 dehydration HP:0001944
5 ketoacidosis HP:0001993
6 vomiting HP:0002013
7 diarrhea HP:0002014
8 generalized clonic seizures HP:0011169
9 methylmalonic aciduria HP:0012120

Drugs & Therapeutics for Combined Malonic and Methylmalonic Aciduria

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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

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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

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Animal Models for Combined Malonic and Methylmalonic Aciduria or affiliated genes

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Publications for Combined Malonic and Methylmalonic Aciduria

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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

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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:

6
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

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Expression patterns in normal tissues for genes affiliated with Combined Malonic and Methylmalonic Aciduria

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Pathways for genes affiliated with Combined Malonic and Methylmalonic Aciduria

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Compounds for genes affiliated with Combined Malonic and Methylmalonic Aciduria

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Sources:
44Novoseek, 24HMDB
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Compounds related to Combined Malonic and Methylmalonic Aciduria according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1acetyl-coa44 2410.1ACSF3, MLYCD
2Propionyl-CoA248.8ACSF3, MLYCD

GO Terms for genes affiliated with Combined Malonic and Methylmalonic Aciduria

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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

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  • Antibodies
  • Proteins
  • Lysates

Sources for Combined Malonic and Methylmalonic Aciduria

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet