MCID: 3MT001
MIFTS: 41

3-Methylcrotonyl-Coa Carboxylase Deficiency

Categories: Rare diseases, Metabolic diseases, Muscle diseases

Aliases & Classifications for 3-Methylcrotonyl-Coa Carboxylase Deficiency

MalaCards integrated aliases for 3-Methylcrotonyl-Coa Carboxylase Deficiency:

Name: 3-Methylcrotonyl-Coa Carboxylase Deficiency 12 53 25 59 15
3-Methylcrotonylglycinuria 12 53 25 59 37
Methylcrotonyl-Coa Carboxylase Deficiency 25 29 6
3-Mcc Deficiency 53 25 6
Mcc Deficiency 53 25 59
Bmcc Deficiency 12 25
3mcc 53 25
Mccd 53 59
Isolated 3-Methylcrotonyl-Coa Carboxylase Deficiency 53
3-Methylcrotonyl-Coenzyme a Carboxylase Deficiency 25
Deficiency of Methylcrotonoyl-Coa Carboxylase 25
3-Methylcrotonyl Coa Carboxylase 1 Deficiency 73
3-Methyl Crotonyl-Coa Carboxylase Deficiency 76
3mcc Deficiency 12
3-Mcc 25

Characteristics:

Orphanet epidemiological data:

59
3-methylcrotonyl-coa carboxylase deficiency
Inheritance: Autosomal recessive; Prevalence: 1-9/100000 (Europe),1-9/100000 (United States),1-9/100000 (Germany),1-9/100000 (Taiwan, Province of China); Age of onset: All ages; Age of death: normal life expectancy;

Classifications:

Orphanet: 59  
Inborn errors of metabolism


External Ids:

Disease Ontology 12 DOID:0050710
Orphanet 59 ORPHA6
MESH via Orphanet 45 C535308
UMLS via Orphanet 74 C0268600
ICD10 via Orphanet 34 E71.1
KEGG 37 H00181
UMLS 73 C0268600

Summaries for 3-Methylcrotonyl-Coa Carboxylase Deficiency

NIH Rare Diseases : 53 3-methylcrotonyl-CoA carboxylase deficiency (3-MCC deficiency) is an inherited condition in which the body is unable to breakdown the amino acid, leucine (a building block of protein). Some children with 3-MCC deficiency will begin developing signs and symptoms during infancy or early childhood; however, more recent studies suggest that many affected babies identified through newborn screening will never experience symptoms of the condition. 3-MCC deficiency may be associated with episodes of "metabolic crisis" in which affected people experience poor appetite, lack of energy, irritability, weakness, nausea and/or vomiting. If metabolic crises are untreated, the condition can lead to developmental delay, seizures, coma, and even death. 3-MCC deficiency is caused by changes (mutations) in MCCC1 or MCCC2 gene and is inherited in an autosomal recessive manner. Treatment may include a low-leucine diet and appropriate supplements.

MalaCards based summary : 3-Methylcrotonyl-Coa Carboxylase Deficiency, also known as 3-methylcrotonylglycinuria, is related to 3-methylcrotonyl-coa carboxylase 1 deficiency and 3-methylcrotonyl-coa carboxylase 2 deficiency, and has symptoms including muscular hypotonia (weak muscle tone), muscular atrophy and feeding difficulties. An important gene associated with 3-Methylcrotonyl-Coa Carboxylase Deficiency is MCCC1 (Methylcrotonoyl-CoA Carboxylase 1), and among its related pathways/superpathways are Valine, leucine and isoleucine degradation and Metabolism. Affiliated tissues include cortex, and related phenotypes are muscular hypotonia and spasticity

Genetics Home Reference : 25 3-methylcrotonyl-CoA carboxylase deficiency (also known as 3-MCC deficiency) is an inherited disorder in which the body is unable to process certain proteins properly. People with this disorder have a shortage of an enzyme that helps break down proteins containing a particular building block (amino acid) called leucine.

Disease Ontology : 12 An amino acid metabolic disorder that has material basis in mutations in the MCCC1 and MCCC2 genes causing inadequate levels of the enzyme 3-methylcrotonyl-CoA carboxylase that helps break down proteins containing the amino acid leucine. This disease has symptom muscular hypotonia (weak muscle tone), has symptom muscular atrophy, has symptom feeding difficulties, has symptom recurrent episodes of vomiting and diarrhea, and has symptom lethargy.

Wikipedia : 76 3-Methylcrotonyl-CoA carboxylase deficiency (3MCC deficiency), also known as 3-Methylcrotonylglycinuria... more...

Related Diseases for 3-Methylcrotonyl-Coa Carboxylase Deficiency

Graphical network of the top 20 diseases related to 3-Methylcrotonyl-Coa Carboxylase Deficiency:



Diseases related to 3-Methylcrotonyl-Coa Carboxylase Deficiency

Symptoms & Phenotypes for 3-Methylcrotonyl-Coa Carboxylase Deficiency

Symptoms:

12
  • muscular hypotonia (weak muscle tone)
  • muscular atrophy
  • feeding difficulties
  • recurrent episodes of vomiting
  • lethargy

Human phenotypes related to 3-Methylcrotonyl-Coa Carboxylase Deficiency:

59 32 (show all 10)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 muscular hypotonia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001252
2 spasticity 59 32 occasional (7.5%) Occasional (29-5%) HP:0001257
3 failure to thrive in infancy 59 32 frequent (33%) Frequent (79-30%) HP:0001531
4 hypoglycemia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001943
5 hyperammonemia 59 32 frequent (33%) Frequent (79-30%) HP:0001987
6 organic aciduria 59 32 hallmark (90%) Very frequent (99-80%) HP:0001992
7 respiratory insufficiency 59 32 occasional (7.5%) Occasional (29-5%) HP:0002093
8 abnormality of leucine metabolism 59 32 hallmark (90%) Very frequent (99-80%) HP:0004357
9 abnormality of movement 59 32 frequent (33%) Frequent (79-30%) HP:0100022
10 abnormality of the cerebral vasculature 59 32 occasional (7.5%) Occasional (29-5%) HP:0100659

UMLS symptoms related to 3-Methylcrotonyl-Coa Carboxylase Deficiency:


lethargy, seizures, vomiting, opisthotonus

Drugs & Therapeutics for 3-Methylcrotonyl-Coa Carboxylase Deficiency

Search Clinical Trials , NIH Clinical Center for 3-Methylcrotonyl-Coa Carboxylase Deficiency

Genetic Tests for 3-Methylcrotonyl-Coa Carboxylase Deficiency

Genetic tests related to 3-Methylcrotonyl-Coa Carboxylase Deficiency:

# Genetic test Affiliating Genes
1 Methylcrotonyl-Coa Carboxylase Deficiency 29

Anatomical Context for 3-Methylcrotonyl-Coa Carboxylase Deficiency

MalaCards organs/tissues related to 3-Methylcrotonyl-Coa Carboxylase Deficiency:

41
Cortex

Publications for 3-Methylcrotonyl-Coa Carboxylase Deficiency

Articles related to 3-Methylcrotonyl-Coa Carboxylase Deficiency:

(show all 43)
# Title Authors Year
1
3-Methylcrotonyl-CoA carboxylase deficiency: Mutational spectrum derived from comprehensive newborn screening. ( 27601257 )
2016
2
Primary and maternal 3-methylcrotonyl-CoA carboxylase deficiency: insights from the Israel newborn screening program. ( 26566957 )
2016
3
3-Methylcrotonyl-CoA carboxylase deficiency: to screen or not to screen? ( 26660660 )
2016
4
Is L-Carnitine Supplementation Beneficial in 3-Methylcrotonyl-CoA Carboxylase Deficiency? ( 25732994 )
2015
5
An asymptomatic mother diagnosed with 3-methylcrotonyl-CoA carboxylase deficiency after newborn screening. ( 25381946 )
2014
6
Neurochemical evidence that the metabolites accumulating in 3-methylcrotonyl-CoA carboxylase deficiency induce oxidative damage in cerebral cortex of young rats. ( 23053545 )
2013
7
Analysis of cases of 3-methylcrotonyl CoA carboxylase deficiency (3-MCCD) in the California newborn screening program reported in the state database. ( 24103308 )
2013
8
3-methylcrotonyl-CoA carboxylase deficiency: clinical, biochemical, enzymatic and molecular studies in 88 individuals. ( 22642865 )
2012
9
Mutational spectrum in eight Korean patients with 3-methylcrotonyl- CoA carboxylase deficiency. ( 22150417 )
2012
10
A single mutation in MCCC1 or MCCC2 as a potential cause of positive screening for 3-methylcrotonyl-CoA carboxylase deficiency. ( 22264772 )
2012
11
Cryptic exon activation by disruption of exon splice enhancer: novel mechanism causing 3-methylcrotonyl-CoA carboxylase deficiency. ( 19706617 )
2009
12
3-Methylcrotonyl-CoA carboxylase deficiency: phenotypic variability in a family. ( 19339287 )
2009
13
Anesthetic management of a patient with 3-methylcrotonyl-CoA carboxylase deficiency. ( 18633047 )
2008
14
Recurrent attacks of status epilepticus as predominant symptom in 3-methylcrotonyl-CoA carboxylase deficiency. ( 17869468 )
2008
15
A Delphi-based consensus clinical practice protocol for the diagnosis and management of 3-methylcrotonyl CoA carboxylase deficiency. ( 18155630 )
2008
16
3-methylcrotonyl-CoA carboxylase deficiency and severe multiple sclerosis. ( 17275669 )
2007
17
Novel mutations in five Japanese patients with 3-methylcrotonyl-CoA carboxylase deficiency. ( 17968484 )
2007
18
Newborn screening for 3-methylcrotonyl-CoA carboxylase deficiency: population heterogeneity of MCCA and MCCB mutations and impact on risk assessment. ( 16835865 )
2006
19
3-Methylcrotonyl-CoA carboxylase deficiency. A long-term outcome. ( 16680273 )
2006
20
3-Methylcrotonyl-CoA carboxylase deficiency: metabolic decompensation in a noncompliant child detected through newborn screening. ( 17142544 )
2006
21
Molecular mechanism of dominant expression in 3-methylcrotonyl-CoA carboxylase deficiency. ( 15868465 )
2005
22
Severe hypoglycaemia in isolated 3-methylcrotonyl-CoA carboxylase deficiency; a rare, severe clinical presentation. ( 16435207 )
2005
23
3-Methylcrotonyl-CoA carboxylase deficiency: mutation analysis in 28 probands, 9 symptomatic and 19 detected by newborn screening. ( 16010683 )
2005
24
Consanguineous 3-methylcrotonyl-CoA carboxylase deficiency: early-onset necrotizing encephalopathy with lethal outcome. ( 15877210 )
2005
25
Fungal metabolic model for 3-methylcrotonyl-CoA carboxylase deficiency. ( 14612443 )
2004
26
Isolated 3-methylcrotonyl-CoA carboxylase deficiency: evidence for an allele-specific dominant negative effect and responsiveness to biotin therapy. ( 15359379 )
2004
27
Evaluation of 3-methylcrotonyl-CoA carboxylase deficiency detected by tandem mass spectrometry newborn screening. ( 12872837 )
2003
28
Leukodystrophy and CSF purine abnormalities associated with isolated 3-methylcrotonyl-CoA carboxylase deficiency. ( 11893004 )
2002
29
The molecular basis of human 3-methylcrotonyl-CoA carboxylase deficiency. ( 11181649 )
2001
30
Cloning of the human MCCA and MCCB genes and mutations therein reveal the molecular cause of 3-methylcrotonyl-CoA: carboxylase deficiency. ( 11406611 )
2001
31
3-methylcrotonyl-CoA carboxylase deficiency in an infant with cardiomyopathy, in her brother with developmental delay and in their asymptomatic father. ( 11131348 )
2000
32
Metabolic stroke in isolated 3-methylcrotonyl-CoA carboxylase deficiency. ( 10485305 )
1999
33
Late-infantile 3-methylcrotonyl-CoA carboxylase deficiency presenting as global developmental delay. ( 9584271 )
1998
34
Partial 3-methylcrotonyl-CoA carboxylase deficiency in an infant with fatal outcome due to progressive respiratory failure. ( 9537490 )
1998
35
Isolated 3-methylcrotonyl-CoA carboxylase deficiency in a 15-year-old girl. ( 9187484 )
1997
36
Isolated biotin-resistant 3-methylcrotonyl-CoA carboxylase deficiency: long-term outcome in a case with neonatal onset. ( 8831079 )
1996
37
3-Hydroxyisovalerylcarnitine in 3-methylcrotonyl-CoA carboxylase deficiency. ( 8598640 )
1995
38
Glycine and L-carnitine therapy in 3-methylcrotonyl-CoA carboxylase deficiency. ( 7474896 )
1995
39
Isolated (biotin-resistant) 3-methylcrotonyl-CoA carboxylase deficiency: four sibs devoid of pathology. ( 8598650 )
1995
40
Isolated 3-methylcrotonyl-CoA carboxylase deficiency in a 16-month-old child. ( 1779635 )
1991
41
Isolated biotin-resistant 3-methylcrotonyl-CoA carboxylase deficiency presenting as a Reye syndrome-like illness. ( 2515383 )
1989
42
Isolated biotin-resistant 3-methylcrotonyl CoA carboxylase deficiency presenting with life-threatening hypoglycaemia. ( 6441868 )
1984
43
Isolated biotin-resistant 3-methylcrotonyl-CoA carboxylase deficiency in two sibs. ( 7128647 )
1982

Variations for 3-Methylcrotonyl-Coa Carboxylase Deficiency

ClinVar genetic disease variations for 3-Methylcrotonyl-Coa Carboxylase Deficiency:

6
(show top 50) (show all 106)
# Gene Variation Type Significance SNP ID Assembly Location
1 MCCC1 NM_020166.4(MCCC1): c.974T> G (p.Met325Arg) single nucleotide variant Pathogenic/Likely pathogenic rs119103212 GRCh37 Chromosome 3, 182763310: 182763310
2 MCCC1 NM_020166.4(MCCC1): c.974T> G (p.Met325Arg) single nucleotide variant Pathogenic/Likely pathogenic rs119103212 GRCh38 Chromosome 3, 183045522: 183045522
3 MCCC1 NM_020166.4(MCCC1): c.1614G> A (p.Ser538=) single nucleotide variant Conflicting interpretations of pathogenicity rs34749281 GRCh37 Chromosome 3, 182751846: 182751846
4 MCCC1 NM_020166.4(MCCC1): c.1614G> A (p.Ser538=) single nucleotide variant Conflicting interpretations of pathogenicity rs34749281 GRCh38 Chromosome 3, 183034058: 183034058
5 MCCC1 NM_020166.4(MCCC1): c.231G> A (p.Ala77=) single nucleotide variant Conflicting interpretations of pathogenicity rs144230304 GRCh38 Chromosome 3, 183092451: 183092451
6 MCCC1 NM_020166.4(MCCC1): c.231G> A (p.Ala77=) single nucleotide variant Conflicting interpretations of pathogenicity rs144230304 GRCh37 Chromosome 3, 182810239: 182810239
7 MCCC1 NM_020166.4(MCCC1): c.2050-6_2050-5delCT deletion Uncertain significance rs780558586 GRCh38 Chromosome 3, 183015571: 183015572
8 MCCC1 NM_020166.4(MCCC1): c.2050-6_2050-5delCT deletion Uncertain significance rs780558586 GRCh37 Chromosome 3, 182733359: 182733360
9 MCCC1 NM_020166.4(MCCC1): c.1894C> T (p.Pro632Ser) single nucleotide variant Uncertain significance rs142867987 GRCh38 Chromosome 3, 183020213: 183020213
10 MCCC1 NM_020166.4(MCCC1): c.1894C> T (p.Pro632Ser) single nucleotide variant Uncertain significance rs142867987 GRCh37 Chromosome 3, 182738001: 182738001
11 MCCC1 NM_020166.4(MCCC1): c.1499G> A (p.Arg500Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs78726268 GRCh37 Chromosome 3, 182755101: 182755101
12 MCCC1 NM_020166.4(MCCC1): c.1499G> A (p.Arg500Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs78726268 GRCh38 Chromosome 3, 183037313: 183037313
13 MCCC1 NM_020166.4(MCCC1): c.1281C> T (p.Ser427=) single nucleotide variant Uncertain significance rs763713221 GRCh38 Chromosome 3, 183039122: 183039122
14 MCCC1 NM_020166.4(MCCC1): c.1281C> T (p.Ser427=) single nucleotide variant Uncertain significance rs763713221 GRCh37 Chromosome 3, 182756910: 182756910
15 MCCC1 NM_020166.4(MCCC1): c.639+13A> G single nucleotide variant Uncertain significance rs140342772 GRCh38 Chromosome 3, 183071197: 183071197
16 MCCC1 NM_020166.4(MCCC1): c.639+13A> G single nucleotide variant Uncertain significance rs140342772 GRCh37 Chromosome 3, 182788985: 182788985
17 MCCC1 NM_020166.4(MCCC1): c.-100G> C single nucleotide variant Benign rs937652 GRCh38 Chromosome 3, 183099540: 183099540
18 MCCC1 NM_020166.4(MCCC1): c.-100G> C single nucleotide variant Benign rs937652 GRCh37 Chromosome 3, 182817328: 182817328
19 MCCC1 NM_020166.4(MCCC1): c.-101C> T single nucleotide variant Uncertain significance rs886058210 GRCh38 Chromosome 3, 183099541: 183099541
20 MCCC1 NM_020166.4(MCCC1): c.-101C> T single nucleotide variant Uncertain significance rs886058210 GRCh37 Chromosome 3, 182817329: 182817329
21 MCCC1 NM_020166.4(MCCC1): c.1339G> T (p.Ala447Ser) single nucleotide variant Uncertain significance rs546480708 GRCh38 Chromosome 3, 183039064: 183039064
22 MCCC1 NM_020166.4(MCCC1): c.1339G> T (p.Ala447Ser) single nucleotide variant Uncertain significance rs546480708 GRCh37 Chromosome 3, 182756852: 182756852
23 MCCC1 NM_020166.4(MCCC1): c.388G> A (p.Gly130Ser) single nucleotide variant Uncertain significance rs202197951 GRCh38 Chromosome 3, 183072469: 183072469
24 MCCC1 NM_020166.4(MCCC1): c.388G> A (p.Gly130Ser) single nucleotide variant Uncertain significance rs202197951 GRCh37 Chromosome 3, 182790257: 182790257
25 MCCC1 NM_020166.4(MCCC1): c.131C> T (p.Ala44Val) single nucleotide variant Uncertain significance rs200673204 GRCh38 Chromosome 3, 183094564: 183094564
26 MCCC1 NM_020166.4(MCCC1): c.131C> T (p.Ala44Val) single nucleotide variant Uncertain significance rs200673204 GRCh37 Chromosome 3, 182812352: 182812352
27 MCCC1 NM_020166.4(MCCC1): c.-23C> T single nucleotide variant Uncertain significance rs374636986 GRCh38 Chromosome 3, 183099463: 183099463
28 MCCC1 NM_020166.4(MCCC1): c.-23C> T single nucleotide variant Uncertain significance rs374636986 GRCh37 Chromosome 3, 182817251: 182817251
29 MCCC1 NM_020166.4(MCCC1): c.-132C> T single nucleotide variant Uncertain significance rs529095789 GRCh38 Chromosome 3, 183099572: 183099572
30 MCCC1 NM_020166.4(MCCC1): c.-132C> T single nucleotide variant Uncertain significance rs529095789 GRCh37 Chromosome 3, 182817360: 182817360
31 MCCC1 NM_020166.4(MCCC1): c.*45A> T single nucleotide variant Uncertain significance rs186406584 GRCh38 Chromosome 3, 183015393: 183015393
32 MCCC1 NM_020166.4(MCCC1): c.*45A> T single nucleotide variant Uncertain significance rs186406584 GRCh37 Chromosome 3, 182733181: 182733181
33 MCCC1 NM_020166.4(MCCC1): c.*1A> T single nucleotide variant Conflicting interpretations of pathogenicity rs115605600 GRCh38 Chromosome 3, 183015437: 183015437
34 MCCC1 NM_020166.4(MCCC1): c.*1A> T single nucleotide variant Conflicting interpretations of pathogenicity rs115605600 GRCh37 Chromosome 3, 182733225: 182733225
35 MCCC1 NM_020166.4(MCCC1): c.1724G> A (p.Ser575Asn) single nucleotide variant Uncertain significance rs886058206 GRCh38 Chromosome 3, 183025762: 183025762
36 MCCC1 NM_020166.4(MCCC1): c.1724G> A (p.Ser575Asn) single nucleotide variant Uncertain significance rs886058206 GRCh37 Chromosome 3, 182743550: 182743550
37 MCCC1 NM_020166.4(MCCC1): c.729T> C (p.Ala243=) single nucleotide variant Uncertain significance rs886058208 GRCh38 Chromosome 3, 183071031: 183071031
38 MCCC1 NM_020166.4(MCCC1): c.729T> C (p.Ala243=) single nucleotide variant Uncertain significance rs886058208 GRCh37 Chromosome 3, 182788819: 182788819
39 MCCC1 NM_020166.4(MCCC1): c.2171C> T (p.Ser724Leu) single nucleotide variant Uncertain significance rs201806708 GRCh38 Chromosome 3, 183015445: 183015445
40 MCCC1 NM_020166.4(MCCC1): c.2171C> T (p.Ser724Leu) single nucleotide variant Uncertain significance rs201806708 GRCh37 Chromosome 3, 182733233: 182733233
41 MCCC1 NM_020166.4(MCCC1): c.994T> G (p.Cys332Gly) single nucleotide variant Uncertain significance rs886058207 GRCh38 Chromosome 3, 183045502: 183045502
42 MCCC1 NM_020166.4(MCCC1): c.994T> G (p.Cys332Gly) single nucleotide variant Uncertain significance rs886058207 GRCh37 Chromosome 3, 182763290: 182763290
43 MCCC1 NM_020166.4(MCCC1): c.768A> G (p.Val256=) single nucleotide variant Uncertain significance rs567236851 GRCh38 Chromosome 3, 183057416: 183057416
44 MCCC1 NM_020166.4(MCCC1): c.768A> G (p.Val256=) single nucleotide variant Uncertain significance rs567236851 GRCh37 Chromosome 3, 182775204: 182775204
45 MCCC1 NM_020166.4(MCCC1): c.640_641delGG (p.Gly214Asnfs) deletion Conflicting interpretations of pathogenicity rs886058209 GRCh38 Chromosome 3, 183071119: 183071120
46 MCCC1 NM_020166.4(MCCC1): c.640_641delGG (p.Gly214Asnfs) deletion Conflicting interpretations of pathogenicity rs886058209 GRCh37 Chromosome 3, 182788907: 182788908
47 MCCC1 NM_020166.4(MCCC1): c.623G> A (p.Arg208Gln) single nucleotide variant Uncertain significance rs780352053 GRCh38 Chromosome 3, 183071226: 183071226
48 MCCC1 NM_020166.4(MCCC1): c.623G> A (p.Arg208Gln) single nucleotide variant Uncertain significance rs780352053 GRCh37 Chromosome 3, 182789014: 182789014
49 MCCC1 NM_020166.4(MCCC1): c.-102C> A single nucleotide variant Uncertain significance rs543130921 GRCh38 Chromosome 3, 183099542: 183099542
50 MCCC1 NM_020166.4(MCCC1): c.-102C> A single nucleotide variant Uncertain significance rs543130921 GRCh37 Chromosome 3, 182817330: 182817330

Expression for 3-Methylcrotonyl-Coa Carboxylase Deficiency

Search GEO for disease gene expression data for 3-Methylcrotonyl-Coa Carboxylase Deficiency.

Pathways for 3-Methylcrotonyl-Coa Carboxylase Deficiency

Pathways related to 3-Methylcrotonyl-Coa Carboxylase Deficiency according to KEGG:

37
# Name Kegg Source Accession
1 Valine, leucine and isoleucine degradation hsa00280

Pathways related to 3-Methylcrotonyl-Coa Carboxylase Deficiency according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.48 ACAD8 ACADSB HMGCL MCCC1 MCCC2 MUT
2
Show member pathways
12.1 MCCC1 MCCC2 MUT
3
Show member pathways
11.3 MCCC1 MCCC2 MUT
4
Show member pathways
11.17 ACAD8 ACADSB HMGCL MCCC1 MCCC2 MUT
5 11.09 HMGCL MCCC1 MUT
6
Show member pathways
10.34 MCCC1 MCCC2

GO Terms for 3-Methylcrotonyl-Coa Carboxylase Deficiency

Cellular components related to 3-Methylcrotonyl-Coa Carboxylase Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mitochondrion GO:0005739 9.73 ACAD8 ACADSB HMGCL MCCC1 MCCC2 MUT
2 methylcrotonoyl-CoA carboxylase complex GO:1905202 9.16 MCCC1 MCCC2
3 mitochondrial matrix GO:0005759 9.1 ACAD8 ACADSB HMGCL MCCC1 MCCC2 MUT
4 3-methylcrotonyl-CoA carboxylase complex, mitochondrial GO:0002169 8.96 MCCC1 MCCC2

Biological processes related to 3-Methylcrotonyl-Coa Carboxylase Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 lipid metabolic process GO:0006629 9.54 ACAD8 ACADSB HMGCL
2 metabolic process GO:0008152 9.5 ACAD8 ACADSB MUT
3 protein heterooligomerization GO:0051291 9.26 MCCC1 MCCC2
4 biotin metabolic process GO:0006768 9.16 MCCC1 MCCC2
5 leucine catabolic process GO:0006552 9.13 HMGCL MCCC1 MCCC2
6 branched-chain amino acid catabolic process GO:0009083 8.92 ACAD8 ACADSB MCCC1 MCCC2

Molecular functions related to 3-Methylcrotonyl-Coa Carboxylase Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ligase activity GO:0016874 9.32 MCCC1 MCCC2
2 flavin adenine dinucleotide binding GO:0050660 9.26 ACAD8 ACADSB
3 oxidoreductase activity, acting on the CH-CH group of donors GO:0016627 9.16 ACAD8 ACADSB
4 acyl-CoA dehydrogenase activity GO:0003995 8.96 ACAD8 ACADSB
5 methylcrotonoyl-CoA carboxylase activity GO:0004485 8.62 MCCC1 MCCC2

Sources for 3-Methylcrotonyl-Coa Carboxylase Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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