MCID: CMB011
MIFTS: 25

Combined Malonic and Methylmalonic Aciduria malady

Metabolic diseases category

Summaries for Combined Malonic and Methylmalonic Aciduria

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Sources:
21Genetics Home Reference, 42NIH Rare Diseases, 46OMIM, 32MalaCards
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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: Combined Malonic and Methylmalonic Aciduria, also known as cmamma, is related to hypoglycemia. An important gene associated with Combined Malonic and Methylmalonic Aciduria is ACSF3 (acyl-CoA synthetase family member 3). The compound acetyl-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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42NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 46OMIM, 48Orphanet, 26ICD10 via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Metabolic diseases


Characteristics (Orphanet epidemiological data):

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


Aliases & Descriptions:

combined malonic and methylmalonic aciduria 42 20 22 21 46 48
cmamma 42 21 48
combined malonic and methylmalonic acidemia 48


External Ids:

OMIM46 614265
ICD10 via Orphanet26 E71.1

Related Diseases for Combined Malonic and Methylmalonic Aciduria

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17GeneCards, 18GeneDecks
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Diseases related to Combined Malonic and Methylmalonic Aciduria via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1hypoglycemia10.0MLYCD

Clinical Features for Combined Malonic and Methylmalonic Aciduria

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46OMIM
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Clinical features from OMIM:

614265

Drugs & Therapeutics for Combined Malonic and Methylmalonic Aciduria

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Combined Malonic and Methylmalonic Aciduria

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20GeneTests, 22GTR
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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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Genetic Variations for Combined Malonic and Methylmalonic Aciduria

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Sources:
62UniProtKB/Swiss-Prot
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Genetic disease variations for Combined Malonic and Methylmalonic Aciduria:

62
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

Expression for genes affiliated with Combined Malonic and Methylmalonic Aciduria

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1BioGPS, 15Gene Expression Omnibus DataSets
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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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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

GO Terms for genes affiliated with Combined Malonic and Methylmalonic Aciduria

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Sources:
16Gene Ontology
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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
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  • Lysates
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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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet