MCID: 3MT001
MIFTS: 48

3-Methylcrotonyl-Coa Carboxylase Deficiency

Categories: Genetic diseases, 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 54 26 60 15
3-Methylcrotonylglycinuria 12 54 26 60 38
3-Mcc Deficiency 54 26 30 6
Methylcrotonyl-Coa Carboxylase Deficiency 26 30 6
Mcc Deficiency 54 26 60
Bmcc Deficiency 12 26
3mcc 54 26
Mccd 54 60
Isolated 3-Methylcrotonyl-Coa Carboxylase Deficiency 54
3-Methylcrotonyl-Coenzyme a Carboxylase Deficiency 26
Deficiency of Methylcrotonoyl-Coa Carboxylase 26
3-Methylcrotonyl Coa Carboxylase 1 Deficiency 74
3-Methyl Crotonyl-Coa Carboxylase Deficiency 77
3mcc Deficiency 12
3-Mcc 26

Characteristics:

Orphanet epidemiological data:

60
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: 60  
Inborn errors of metabolism


External Ids:

Disease Ontology 12 DOID:0050710
KEGG 38 H00181
MESH via Orphanet 46 C535308
ICD10 via Orphanet 35 E71.1
UMLS via Orphanet 75 C0268600
Orphanet 60 ORPHA6
UMLS 74 C0268600

Summaries for 3-Methylcrotonyl-Coa Carboxylase Deficiency

NIH Rare Diseases : 54 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 hypoglycemia and 3-methylcrotonyl-coa carboxylase 1 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 brain, testes and cortex, and related phenotypes are muscular hypotonia and hypoglycemia

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 : 26 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 : 77 3-Methylcrotonyl-CoA carboxylase deficiency also known as 3-Methylcrotonylglycinuria or BMCC deficiency... 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

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

60 33 (show all 11)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 muscular hypotonia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001252
2 hypoglycemia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001943
3 organic aciduria 60 33 hallmark (90%) Very frequent (99-80%) HP:0001992
4 abnormal circulating leucine concentration 33 hallmark (90%) HP:0004357
5 abnormality of movement 60 33 frequent (33%) Frequent (79-30%) HP:0100022
6 failure to thrive in infancy 60 33 frequent (33%) Frequent (79-30%) HP:0001531
7 hyperammonemia 60 33 frequent (33%) Frequent (79-30%) HP:0001987
8 spasticity 60 33 occasional (7.5%) Occasional (29-5%) HP:0001257
9 respiratory insufficiency 60 33 occasional (7.5%) Occasional (29-5%) HP:0002093
10 abnormality of the cerebral vasculature 60 33 occasional (7.5%) Occasional (29-5%) HP:0100659
11 abnormality of leucine metabolism 60 Very frequent (99-80%)

Symptoms:

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

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


seizures, vomiting, lethargy, opisthotonus

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

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased hepcidin::fluc mRNA expression GR00253-A 9.17 ACADS ACADVL GCDH HADH MCCC1 MMUT

MGI Mouse Phenotypes related to 3-Methylcrotonyl-Coa Carboxylase Deficiency:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.23 ACADM ACADVL LIG3 LMBRD1 MMUT NRAS

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 30
2 3-Mcc Deficiency 30

Anatomical Context for 3-Methylcrotonyl-Coa Carboxylase Deficiency

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

42
Brain, Testes, Cortex

Publications for 3-Methylcrotonyl-Coa Carboxylase Deficiency

Articles related to 3-Methylcrotonyl-Coa Carboxylase Deficiency:

(show top 50) (show all 52)
# Title Authors Year
1
Biochemical and molecular characterization of 3-Methylcrotonylglycinuria in an Italian asymptomatic girl. ( 29767664 )
2018
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
3-Methylcrotonyl-CoA carboxylase deficiency: Mutational spectrum derived from comprehensive newborn screening. ( 27601257 )
2016
5
An asymptomatic mother diagnosed with 3-methylcrotonyl-CoA carboxylase deficiency after newborn screening. ( 25381946 )
2015
6
Is L-Carnitine Supplementation Beneficial in 3-Methylcrotonyl-CoA Carboxylase Deficiency? ( 25732994 )
2015
7
Brain magnetic resonance imaging and proton MR spectroscopic findings after metabolic crisis in 3-methylcrotonylglycinuria. ( 26142941 )
2015
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
3-Methylcrotonyl-CoA carboxylase deficiency: phenotypic variability in a family. ( 19339287 )
2009
15
Cryptic exon activation by disruption of exon splice enhancer: novel mechanism causing 3-methylcrotonyl-CoA carboxylase deficiency. ( 19706617 )
2009
16
Recurrent attacks of status epilepticus as predominant symptom in 3-methylcrotonyl-CoA carboxylase deficiency. ( 17869468 )
2008
17
A Delphi-based consensus clinical practice protocol for the diagnosis and management of 3-methylcrotonyl CoA carboxylase deficiency. ( 18155630 )
2008
18
Anesthetic management of a patient with 3-methylcrotonyl-CoA carboxylase deficiency. ( 18633047 )
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
3-Methylcrotonyl-CoA carboxylase deficiency. A long-term outcome. ( 16680273 )
2006
23
Newborn screening for 3-methylcrotonyl-CoA carboxylase deficiency: population heterogeneity of MCCA and MCCB mutations and impact on risk assessment. ( 16835865 )
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
Consanguineous 3-methylcrotonyl-CoA carboxylase deficiency: early-onset necrotizing encephalopathy with lethal outcome. ( 15877210 )
2005
27
3-Methylcrotonyl-CoA carboxylase deficiency: mutation analysis in 28 probands, 9 symptomatic and 19 detected by newborn screening. ( 16010683 )
2005
28
Severe hypoglycaemia in isolated 3-methylcrotonyl-CoA carboxylase deficiency; a rare, severe clinical presentation. ( 16435207 )
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
Partial 3-methylcrotonyl-CoA carboxylase deficiency in an infant with fatal outcome due to progressive respiratory failure. ( 9537490 )
1998
39
Late-infantile 3-methylcrotonyl-CoA carboxylase deficiency presenting as global developmental delay. ( 9584271 )
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
Glycine and L-carnitine therapy in 3-methylcrotonyl-CoA carboxylase deficiency. ( 7474896 )
1995
43
3-Hydroxyisovalerylcarnitine in 3-methylcrotonyl-CoA carboxylase deficiency. ( 8598640 )
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
Biotin-responsive 3-methylcrotonylglycinuria with biotinidase deficiency. ( 3930850 )
1985
49
Isolated biotin-resistant 3-methylcrotonyl CoA carboxylase deficiency presenting with life-threatening hypoglycaemia. ( 6441868 )
1984
50
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 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:

38
# 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:

(show all 12)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.84 ACADM ACADS ACADVL GCDH HADH LMBRD1
2
Show member pathways
12.6 ACADM ACADS ACADVL HADH MMUT
3
Show member pathways
12.38 LMBRD1 MCCC1 MCCC2 MMUT
4
Show member pathways
11.64 ACADM ACADS ACADVL GCDH HADH
5 11.58 ACADM HADH MCCC1 MMUT
6
Show member pathways
11.55 MCCC1 MCCC2 MMUT
7
Show member pathways
11.37 ACADM ACADS ACADVL HADH MMUT
8 11.19 ACADM ACADVL HADH
9
Show member pathways
11.18 ACADM ACADS HADH MCCC1 MCCC2 MMUT
10
Show member pathways
11.08 ACADM ACADS ACADVL GCDH HADH
11 11.02 ACADM MMUT
12 10.78 LMBRD1 MMUT

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 9.7 ACADM ACADS ACADVL GCDH HADH LIG3
2 mitochondrial matrix GO:0005759 9.28 ACADM ACADS ACADVL GCDH HADH MCCC1
3 3-methylcrotonyl-CoA carboxylase complex, mitochondrial GO:0002169 9.26 MCCC1 MCCC2
4 methylcrotonoyl-CoA carboxylase complex GO:1905202 9.16 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 oxidation-reduction process GO:0055114 9.85 ACADM ACADS ACADVL GCDH HADH SNCA
2 fatty acid metabolic process GO:0006631 9.55 ACADM ACADS ACADVL HADH SNCA
3 hormone-mediated signaling pathway GO:0009755 9.5 CGB3 CGB7 CGB8
4 cobalamin metabolic process GO:0009235 9.48 LMBRD1 MMUT
5 peptide hormone processing GO:0016486 9.46 CGB3 CGB8
6 biotin metabolic process GO:0006768 9.43 MCCC1 MCCC2
7 female gamete generation GO:0007292 9.43 CGB3 CGB7 CGB8
8 leucine catabolic process GO:0006552 9.4 MCCC1 MCCC2
9 fatty acid beta-oxidation GO:0006635 9.26 ACADM ACADS ACADVL HADH
10 fatty acid beta-oxidation using acyl-CoA dehydrogenase GO:0033539 8.92 ACADM ACADS ACADVL GCDH

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

# Name GO ID Score Top Affiliating Genes
1 oxidoreductase activity GO:0016491 9.8 ACADM ACADS ACADVL GCDH HADH SNCA
2 ligase activity GO:0016874 9.61 LIG3 MCCC1 MCCC2
3 flavin adenine dinucleotide binding GO:0050660 9.46 ACADM ACADS ACADVL GCDH
4 fatty-acyl-CoA binding GO:0000062 9.4 ACADVL GCDH
5 cobalamin binding GO:0031419 9.37 LMBRD1 MMUT
6 methylcrotonoyl-CoA carboxylase activity GO:0004485 9.26 MCCC1 MCCC2
7 oxidoreductase activity, acting on the CH-CH group of donors GO:0016627 9.26 ACADM ACADS ACADVL GCDH
8 acyl-CoA dehydrogenase activity GO:0003995 8.92 ACADM ACADS ACADVL GCDH

Sources for 3-Methylcrotonyl-Coa Carboxylase Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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