MCID: CMB011
MIFTS: 31

Combined Malonic and Methylmalonic Aciduria malady

Genetic diseases, Rare diseases categories

Aliases & Classifications for Combined Malonic and Methylmalonic Aciduria

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Aliases & Descriptions for Combined Malonic and Methylmalonic Aciduria:

Name: Combined Malonic and Methylmalonic Aciduria 49 11 45 22 23 24 65 67
 
Cmamma 45 23 67


Classifications:



External Ids:

OMIM49 614265
MedGen34 C3280314
MeSH36 D008052

Summaries for Combined Malonic and Methylmalonic Aciduria

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NIH Rare Diseases:45 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, also known as cmamma, is related to combined malonic and methylmalonic acidemia and coronary heart disease 5, and has symptoms including autosomal recessive inheritance, global developmental delay and failure to thrive. An important gene associated with Combined Malonic and Methylmalonic Aciduria is ACSF3 (Acyl-CoA Synthetase Family Member 3).

Genetics Home Reference:23 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.

UniProtKB/Swiss-Prot:67 Combined malonic and methylmalonic aciduria: A metabolic disease characterized by malonic and methylmalonic aciduria, with urinary excretion of much larger amounts of methylmalonic acid than malonic acid, in the presence of normal malonyl-CoA decarboxylase activity. Clinical features include coma, ketoacidosis, hypoglycemia, failure to thrive, microcephaly, dystonia, axial hypotonia and/or developmental delay, and neurologic manifestations including seizures, psychiatric disease and/or cognitive decline.

Description from OMIM:49 614265

Related Diseases for Combined Malonic and Methylmalonic Aciduria

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Diseases related to Combined Malonic and Methylmalonic Aciduria via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 13)
idRelated DiseaseScoreTop Affiliating Genes
1combined malonic and methylmalonic acidemia10.7
2coronary heart disease 510.5
3malonyl-coa decarboxylase deficiency10.5
4metabolic acidosis10.5
5amino acid metabolic disorder10.5
6blood protein disease10.5
7congenital heart disease10.5
8learning disability10.5
9methylmalonic acidemia10.5
10vein disease10.5
11inborn amino acid metabolism disorder10.5
12vitamin b12-unresponsive methylmalonic acidemia10.5
13kbg syndrome9.8ACSF3, MLYCD

Graphical network of diseases related to Combined Malonic and Methylmalonic Aciduria:



Diseases related to combined malonic and methylmalonic aciduria

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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Interventional clinical trials:

idNameStatusNCT IDPhase
1Combined Malonic and Methylmalonic Aciduria (CMAMMA): Gene Identification and Outcome StudyRecruitingNCT01289158

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 Aciduria22 24 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:

67
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:

5
id Gene Variation 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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Search GEO for disease gene expression data for Combined Malonic and Methylmalonic Aciduria.

Pathways for genes affiliated with Combined Malonic and Methylmalonic Aciduria

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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 Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1mitochondrial matrixGO:00057599.1ACSF3, MLYCD
2mitochondrionGO:00057398.8ACSF3, MLYCD

Biological processes related to Combined Malonic and Methylmalonic Aciduria according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1fatty acid biosynthetic processGO:00066339.6ACSF3, MLYCD
2cellular lipid metabolic processGO:00442559.4ACSF3, MLYCD
3small molecule metabolic processGO:00442819.1ACSF3, MLYCD

Sources for Combined Malonic and Methylmalonic Aciduria

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet