3MCC
MCID: 3MT001
MIFTS: 43

3-Methylcrotonyl-Coa Carboxylase Deficiency (3MCC)

Categories: Metabolic diseases, Muscle diseases, Rare 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 propionic acidemia and 3-methylcrotonyl-coa carboxylase 2 deficiency, and has symptoms including feeding difficulties, lethargy and muscular atrophy. 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, brain and testes, and related phenotypes are muscular hypotonia and spasticity

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.

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.

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

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 respiratory insufficiency 59 32 occasional (7.5%) Occasional (29-5%) HP:0002093
4 hypoglycemia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001943
5 abnormality of movement 59 32 frequent (33%) Frequent (79-30%) HP:0100022
6 failure to thrive in infancy 59 32 frequent (33%) Frequent (79-30%) HP:0001531
7 abnormality of the cerebral vasculature 59 32 occasional (7.5%) Occasional (29-5%) HP:0100659
8 hyperammonemia 59 32 frequent (33%) Frequent (79-30%) HP:0001987
9 organic aciduria 59 32 hallmark (90%) Very frequent (99-80%) HP:0001992
10 abnormality of leucine metabolism 59 32 hallmark (90%) Very frequent (99-80%) HP:0004357

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


seizures, vomiting, lethargy, 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, Brain, Testes

Publications for 3-Methylcrotonyl-Coa Carboxylase Deficiency

Articles related to 3-Methylcrotonyl-Coa Carboxylase Deficiency:

(show all 50)
# Title Authors Year
1
Biochemical and molecular characterization of 3-Methylcrotonylglycinuria in an Italian asymptomatic girl. ( 29767664 )
2018
2
3-Methylcrotonyl-CoA carboxylase deficiency: Mutational spectrum derived from comprehensive newborn screening. ( 27601257 )
2016
3
Primary and maternal 3-methylcrotonyl-CoA carboxylase deficiency: insights from the Israel newborn screening program. ( 26566957 )
2016
4
3-Methylcrotonyl-CoA carboxylase deficiency: to screen or not to screen? ( 26660660 )
2016
5
Is L-Carnitine Supplementation Beneficial in 3-Methylcrotonyl-CoA Carboxylase Deficiency? ( 25732994 )
2015
6
Brain magnetic resonance imaging and proton MR spectroscopic findings after metabolic crisis in 3-methylcrotonylglycinuria. ( 26142941 )
2015
7
An asymptomatic mother diagnosed with 3-methylcrotonyl-CoA carboxylase deficiency after newborn screening. ( 25381946 )
2014
8
Asymptomatic maternal 3-methylcrotonylglycinuria detected by her unaffected baby's neonatal screening test. ( 25114694 )
2014
9
Neurochemical evidence that the metabolites accumulating in 3-methylcrotonyl-CoA carboxylase deficiency induce oxidative damage in cerebral cortex of young rats. ( 23053545 )
2013
10
Analysis of cases of 3-methylcrotonyl CoA carboxylase deficiency (3-MCCD) in the California newborn screening program reported in the state database. ( 24103308 )
2013
11
3-methylcrotonyl-CoA carboxylase deficiency: clinical, biochemical, enzymatic and molecular studies in 88 individuals. ( 22642865 )
2012
12
Mutational spectrum in eight Korean patients with 3-methylcrotonyl- CoA carboxylase deficiency. ( 22150417 )
2012
13
A single mutation in MCCC1 or MCCC2 as a potential cause of positive screening for 3-methylcrotonyl-CoA carboxylase deficiency. ( 22264772 )
2012
14
Cryptic exon activation by disruption of exon splice enhancer: novel mechanism causing 3-methylcrotonyl-CoA carboxylase deficiency. ( 19706617 )
2009
15
3-Methylcrotonyl-CoA carboxylase deficiency: phenotypic variability in a family. ( 19339287 )
2009
16
Anesthetic management of a patient with 3-methylcrotonyl-CoA carboxylase deficiency. ( 18633047 )
2008
17
Recurrent attacks of status epilepticus as predominant symptom in 3-methylcrotonyl-CoA carboxylase deficiency. ( 17869468 )
2008
18
A Delphi-based consensus clinical practice protocol for the diagnosis and management of 3-methylcrotonyl CoA carboxylase deficiency. ( 18155630 )
2008
19
Biotin-sensitive 3-methylcrotonylglycinuria in a patient with severe growth delay, ectodermal abnormalities, neonatal progeroid appearance, and developmental delay. ( 18541968 )
2008
20
3-methylcrotonyl-CoA carboxylase deficiency and severe multiple sclerosis. ( 17275669 )
2007
21
Novel mutations in five Japanese patients with 3-methylcrotonyl-CoA carboxylase deficiency. ( 17968484 )
2007
22
Newborn screening for 3-methylcrotonyl-CoA carboxylase deficiency: population heterogeneity of MCCA and MCCB mutations and impact on risk assessment. ( 16835865 )
2006
23
3-Methylcrotonyl-CoA carboxylase deficiency. A long-term outcome. ( 16680273 )
2006
24
3-Methylcrotonyl-CoA carboxylase deficiency: metabolic decompensation in a noncompliant child detected through newborn screening. ( 17142544 )
2006
25
Molecular mechanism of dominant expression in 3-methylcrotonyl-CoA carboxylase deficiency. ( 15868465 )
2005
26
Severe hypoglycaemia in isolated 3-methylcrotonyl-CoA carboxylase deficiency; a rare, severe clinical presentation. ( 16435207 )
2005
27
3-Methylcrotonyl-CoA carboxylase deficiency: mutation analysis in 28 probands, 9 symptomatic and 19 detected by newborn screening. ( 16010683 )
2005
28
Consanguineous 3-methylcrotonyl-CoA carboxylase deficiency: early-onset necrotizing encephalopathy with lethal outcome. ( 15877210 )
2005
29
Fungal metabolic model for 3-methylcrotonyl-CoA carboxylase deficiency. ( 14612443 )
2004
30
Isolated 3-methylcrotonyl-CoA carboxylase deficiency: evidence for an allele-specific dominant negative effect and responsiveness to biotin therapy. ( 15359379 )
2004
31
Evaluation of 3-methylcrotonyl-CoA carboxylase deficiency detected by tandem mass spectrometry newborn screening. ( 12872837 )
2003
32
Leukodystrophy and CSF purine abnormalities associated with isolated 3-methylcrotonyl-CoA carboxylase deficiency. ( 11893004 )
2002
33
The molecular basis of human 3-methylcrotonyl-CoA carboxylase deficiency. ( 11181649 )
2001
34
Cloning of the human MCCA and MCCB genes and mutations therein reveal the molecular cause of 3-methylcrotonyl-CoA: carboxylase deficiency. ( 11406611 )
2001
35
The molecular basis of 3-methylcrotonylglycinuria, a disorder of leucine catabolism. ( 11170888 )
2001
36
3-methylcrotonyl-CoA carboxylase deficiency in an infant with cardiomyopathy, in her brother with developmental delay and in their asymptomatic father. ( 11131348 )
2000
37
Metabolic stroke in isolated 3-methylcrotonyl-CoA carboxylase deficiency. ( 10485305 )
1999
38
Late-infantile 3-methylcrotonyl-CoA carboxylase deficiency presenting as global developmental delay. ( 9584271 )
1998
39
Partial 3-methylcrotonyl-CoA carboxylase deficiency in an infant with fatal outcome due to progressive respiratory failure. ( 9537490 )
1998
40
Isolated 3-methylcrotonyl-CoA carboxylase deficiency in a 15-year-old girl. ( 9187484 )
1997
41
Isolated biotin-resistant 3-methylcrotonyl-CoA carboxylase deficiency: long-term outcome in a case with neonatal onset. ( 8831079 )
1996
42
3-Hydroxyisovalerylcarnitine in 3-methylcrotonyl-CoA carboxylase deficiency. ( 8598640 )
1995
43
Glycine and L-carnitine therapy in 3-methylcrotonyl-CoA carboxylase deficiency. ( 7474896 )
1995
44
Isolated (biotin-resistant) 3-methylcrotonyl-CoA carboxylase deficiency: four sibs devoid of pathology. ( 8598650 )
1995
45
Benign clinical presentation of 3-methylcrotonylglycinuria. ( 8598648 )
1995
46
Isolated 3-methylcrotonyl-CoA carboxylase deficiency in a 16-month-old child. ( 1779635 )
1991
47
Isolated biotin-resistant 3-methylcrotonyl-CoA carboxylase deficiency presenting as a Reye syndrome-like illness. ( 2515383 )
1989
48
Isolated biotin-resistant 3-methylcrotonyl CoA carboxylase deficiency presenting with life-threatening hypoglycaemia. ( 6441868 )
1984
49
Isolated biotin-resistant 3-methylcrotonyl-CoA carboxylase deficiency in two sibs. ( 7128647 )
1982
50
Propionyl-CoA carboxylase deficiency in a patient with biotin-responsive 3-methylcrotonylglycinuria. ( 917614 )
1977

Variations for 3-Methylcrotonyl-Coa Carboxylase Deficiency

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

6 (show top 50) (show all 116)
# Gene Variation Type Significance SNP ID Assembly Location
1 MCCC2 NM_022132.4(MCCC2): c.499T> C (p.Cys167Arg) single nucleotide variant Uncertain significance rs119103222 GRCh37 Chromosome 5, 70898448: 70898448
2 MCCC2 NM_022132.4(MCCC2): c.499T> C (p.Cys167Arg) single nucleotide variant Uncertain significance rs119103222 GRCh38 Chromosome 5, 71602621: 71602621
3 MCCC1 NM_020166.4(MCCC1): c.974T> G (p.Met325Arg) single nucleotide variant Pathogenic/Likely pathogenic rs119103212 GRCh37 Chromosome 3, 182763310: 182763310
4 MCCC1 NM_020166.4(MCCC1): c.974T> G (p.Met325Arg) single nucleotide variant Pathogenic/Likely pathogenic rs119103212 GRCh38 Chromosome 3, 183045522: 183045522
5 MCCC1 NM_020166.4(MCCC1): c.1391A> C (p.His464Pro) single nucleotide variant Benign rs2270968 GRCh37 Chromosome 3, 182755209: 182755209
6 MCCC1 NM_020166.4(MCCC1): c.1391A> C (p.His464Pro) single nucleotide variant Benign rs2270968 GRCh38 Chromosome 3, 183037421: 183037421
7 MCCC1 NM_020166.4(MCCC1): c.396C> T (p.Leu132=) single nucleotide variant Benign rs7622479 GRCh37 Chromosome 3, 182790249: 182790249
8 MCCC1 NM_020166.4(MCCC1): c.396C> T (p.Leu132=) single nucleotide variant Benign rs7622479 GRCh38 Chromosome 3, 183072461: 183072461
9 MCCC2 NM_022132.4(MCCC2): c.1368A> G (p.Ala456=) single nucleotide variant Benign rs10064079 GRCh37 Chromosome 5, 70945075: 70945075
10 MCCC2 NM_022132.4(MCCC2): c.1368A> G (p.Ala456=) single nucleotide variant Benign rs10064079 GRCh38 Chromosome 5, 71649248: 71649248
11 MCCC2 NM_022132.4(MCCC2): c.904-12A> G single nucleotide variant Benign rs277984 GRCh37 Chromosome 5, 70930966: 70930966
12 MCCC2 NM_022132.4(MCCC2): c.904-12A> G single nucleotide variant Benign rs277984 GRCh38 Chromosome 5, 71635139: 71635139
13 MCCC1 NM_020166.4(MCCC1): c.1614G> A (p.Ser538=) single nucleotide variant Conflicting interpretations of pathogenicity rs34749281 GRCh37 Chromosome 3, 182751846: 182751846
14 MCCC1 NM_020166.4(MCCC1): c.1614G> A (p.Ser538=) single nucleotide variant Conflicting interpretations of pathogenicity rs34749281 GRCh38 Chromosome 3, 183034058: 183034058
15 MCCC1 NM_020166.4(MCCC1): c.231G> A (p.Ala77=) single nucleotide variant Conflicting interpretations of pathogenicity rs144230304 GRCh38 Chromosome 3, 183092451: 183092451
16 MCCC1 NM_020166.4(MCCC1): c.231G> A (p.Ala77=) single nucleotide variant Conflicting interpretations of pathogenicity rs144230304 GRCh37 Chromosome 3, 182810239: 182810239
17 MCCC1 NM_020166.4(MCCC1): c.2050-6_2050-5delCT deletion Uncertain significance rs780558586 GRCh38 Chromosome 3, 183015571: 183015572
18 MCCC1 NM_020166.4(MCCC1): c.2050-6_2050-5delCT deletion Uncertain significance rs780558586 GRCh37 Chromosome 3, 182733359: 182733360
19 MCCC1 NM_020166.4(MCCC1): c.1894C> T (p.Pro632Ser) single nucleotide variant Uncertain significance rs142867987 GRCh38 Chromosome 3, 183020213: 183020213
20 MCCC1 NM_020166.4(MCCC1): c.1894C> T (p.Pro632Ser) single nucleotide variant Uncertain significance rs142867987 GRCh37 Chromosome 3, 182738001: 182738001
21 MCCC1 NM_020166.4(MCCC1): c.1499G> A (p.Arg500Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs78726268 GRCh38 Chromosome 3, 183037313: 183037313
22 MCCC1 NM_020166.4(MCCC1): c.1499G> A (p.Arg500Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs78726268 GRCh37 Chromosome 3, 182755101: 182755101
23 MCCC1 NM_020166.4(MCCC1): c.1281C> T (p.Ser427=) single nucleotide variant Uncertain significance rs763713221 GRCh38 Chromosome 3, 183039122: 183039122
24 MCCC1 NM_020166.4(MCCC1): c.1281C> T (p.Ser427=) single nucleotide variant Uncertain significance rs763713221 GRCh37 Chromosome 3, 182756910: 182756910
25 MCCC1 NM_020166.4(MCCC1): c.639+13A> G single nucleotide variant Uncertain significance rs140342772 GRCh38 Chromosome 3, 183071197: 183071197
26 MCCC1 NM_020166.4(MCCC1): c.639+13A> G single nucleotide variant Uncertain significance rs140342772 GRCh37 Chromosome 3, 182788985: 182788985
27 MCCC1 NM_020166.4(MCCC1): c.-100G> C single nucleotide variant Benign rs937652 GRCh38 Chromosome 3, 183099540: 183099540
28 MCCC1 NM_020166.4(MCCC1): c.-100G> C single nucleotide variant Benign rs937652 GRCh37 Chromosome 3, 182817328: 182817328
29 MCCC1 NM_020166.4(MCCC1): c.-101C> T single nucleotide variant Uncertain significance rs886058210 GRCh38 Chromosome 3, 183099541: 183099541
30 MCCC1 NM_020166.4(MCCC1): c.-101C> T single nucleotide variant Uncertain significance rs886058210 GRCh37 Chromosome 3, 182817329: 182817329
31 MCCC1 NM_020166.4(MCCC1): c.1339G> T (p.Ala447Ser) single nucleotide variant Uncertain significance rs546480708 GRCh38 Chromosome 3, 183039064: 183039064
32 MCCC1 NM_020166.4(MCCC1): c.1339G> T (p.Ala447Ser) single nucleotide variant Uncertain significance rs546480708 GRCh37 Chromosome 3, 182756852: 182756852
33 MCCC1 NM_020166.4(MCCC1): c.388G> A (p.Gly130Ser) single nucleotide variant Uncertain significance rs202197951 GRCh38 Chromosome 3, 183072469: 183072469
34 MCCC1 NM_020166.4(MCCC1): c.388G> A (p.Gly130Ser) single nucleotide variant Uncertain significance rs202197951 GRCh37 Chromosome 3, 182790257: 182790257
35 MCCC1 NM_020166.4(MCCC1): c.131C> T (p.Ala44Val) single nucleotide variant Uncertain significance rs200673204 GRCh38 Chromosome 3, 183094564: 183094564
36 MCCC1 NM_020166.4(MCCC1): c.131C> T (p.Ala44Val) single nucleotide variant Uncertain significance rs200673204 GRCh37 Chromosome 3, 182812352: 182812352
37 MCCC1 NM_020166.4(MCCC1): c.-23C> T single nucleotide variant Uncertain significance rs374636986 GRCh38 Chromosome 3, 183099463: 183099463
38 MCCC1 NM_020166.4(MCCC1): c.-23C> T single nucleotide variant Uncertain significance rs374636986 GRCh37 Chromosome 3, 182817251: 182817251
39 MCCC1 NM_020166.4(MCCC1): c.-132C> T single nucleotide variant Uncertain significance rs529095789 GRCh38 Chromosome 3, 183099572: 183099572
40 MCCC1 NM_020166.4(MCCC1): c.-132C> T single nucleotide variant Uncertain significance rs529095789 GRCh37 Chromosome 3, 182817360: 182817360
41 MCCC1 NM_020166.4(MCCC1): c.*45A> T single nucleotide variant Uncertain significance rs186406584 GRCh38 Chromosome 3, 183015393: 183015393
42 MCCC1 NM_020166.4(MCCC1): c.*45A> T single nucleotide variant Uncertain significance rs186406584 GRCh37 Chromosome 3, 182733181: 182733181
43 MCCC1 NM_020166.4(MCCC1): c.*1A> T single nucleotide variant Conflicting interpretations of pathogenicity rs115605600 GRCh38 Chromosome 3, 183015437: 183015437
44 MCCC1 NM_020166.4(MCCC1): c.*1A> T single nucleotide variant Conflicting interpretations of pathogenicity rs115605600 GRCh37 Chromosome 3, 182733225: 182733225
45 MCCC1 NM_020166.4(MCCC1): c.1724G> A (p.Ser575Asn) single nucleotide variant Uncertain significance rs886058206 GRCh38 Chromosome 3, 183025762: 183025762
46 MCCC1 NM_020166.4(MCCC1): c.1724G> A (p.Ser575Asn) single nucleotide variant Uncertain significance rs886058206 GRCh37 Chromosome 3, 182743550: 182743550
47 MCCC1 NM_020166.4(MCCC1): c.729T> C (p.Ala243=) single nucleotide variant Uncertain significance rs886058208 GRCh38 Chromosome 3, 183071031: 183071031
48 MCCC1 NM_020166.4(MCCC1): c.729T> C (p.Ala243=) single nucleotide variant Uncertain significance rs886058208 GRCh37 Chromosome 3, 182788819: 182788819
49 MCCC1 NM_020166.4(MCCC1): c.2171C> T (p.Ser724Leu) single nucleotide variant Uncertain significance rs201806708 GRCh38 Chromosome 3, 183015445: 183015445
50 MCCC1 NM_020166.4(MCCC1): c.2171C> T (p.Ser724Leu) single nucleotide variant Uncertain significance rs201806708 GRCh37 Chromosome 3, 182733233: 182733233

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
13.27 ACAD8 ACADSB HMGCL LMBRD1 MCCC1 MCCC2
2
Show member pathways
12.04 LMBRD1 MCCC1 MCCC2
3
Show member pathways
11.34 MCCC1 MCCC2
4 11.28 HMGCL MCCC1
5
Show member pathways
11.1 ACAD8 ACADSB HMGCL MCCC1 MCCC2
6
Show member pathways
10.03 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 9.65 ACAD8 ACADSB HMGCL MCCC1 MCCC2
2 3-methylcrotonyl-CoA carboxylase complex, mitochondrial GO:0002169 9.16 MCCC1 MCCC2
3 mitochondrial matrix GO:0005759 9.02 ACAD8 ACADSB HMGCL MCCC1 MCCC2
4 methylcrotonoyl-CoA carboxylase complex GO:1905202 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 9.5 ACAD8 ACADSB HMGCL
2 protein heterooligomerization GO:0051291 9.26 MCCC1 MCCC2
3 branched-chain amino acid catabolic process GO:0009083 9.16 ACAD8 ACADSB
4 biotin metabolic process GO:0006768 8.96 MCCC1 MCCC2
5 leucine catabolic process GO:0006552 8.8 HMGCL 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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