3MCC
MCID: 3MT001
MIFTS: 52

3-Methylcrotonyl-Coa Carboxylase Deficiency (3MCC)

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 20 43 58 15
3-Methylcrotonylglycinuria 12 20 43 58 36
Methylcrotonyl-Coa Carboxylase Deficiency 43 29 6
3-Mcc Deficiency 20 43 29
Mcc Deficiency 20 43 58
Bmcc Deficiency 12 43
3mcc 20 43
Mccd 20 58
Isolated 3-Methylcrotonyl-Coa Carboxylase Deficiency 20
3-Methylcrotonyl-Coenzyme a Carboxylase Deficiency 43
Deficiency of Methylcrotonoyl-Coa Carboxylase 43
3-Methylcrotonyl Coa Carboxylase 1 Deficiency 70
3-Methyl Crotonyl-Coa Carboxylase Deficiency 73
3mcc Deficiency 12
3-Mcc 43

Characteristics:

Orphanet epidemiological data:

58
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: 58  
Inborn errors of metabolism


External Ids:

Disease Ontology 12 DOID:0050710
KEGG 36 H00181
MESH via Orphanet 45 C535308
ICD10 via Orphanet 33 E71.1
UMLS via Orphanet 71 C0268600
Orphanet 58 ORPHA6
UMLS 70 C0268600

Summaries for 3-Methylcrotonyl-Coa Carboxylase Deficiency

MedlinePlus Genetics : 43 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.Infants with 3-MCC deficiency appear normal at birth but usually develop signs and symptoms in infancy or early childhood. The characteristic features of this condition, which can range from mild to life-threatening, include feeding difficulties, recurrent episodes of vomiting and diarrhea, excessive tiredness (lethargy), and weak muscle tone (hypotonia). If untreated, this disorder can lead to delayed development, seizures, and coma. Many of these complications can be prevented with early detection and lifelong management with a low-protein diet and appropriate supplements. Some people with gene mutations that cause 3-MCC deficiency never experience any signs or symptoms of the condition.The characteristic features of 3-MCC deficiency are similar to those of Reye syndrome, a severe disorder that develops in children while they appear to be recovering from viral infections such as chicken pox or flu. Most cases of Reye syndrome are associated with the use of aspirin during these viral infections.

MalaCards based summary : 3-Methylcrotonyl-Coa Carboxylase Deficiency, also known as 3-methylcrotonylglycinuria, is related to hypoglycemia and reye syndrome, and has symptoms including muscular hypotonia, lethargy and feeding difficulties. An important gene associated with 3-Methylcrotonyl-Coa Carboxylase Deficiency is MCCC1 (Methylcrotonyl-CoA Carboxylase Subunit 1), and among its related pathways/superpathways are Valine, leucine and isoleucine degradation and Metabolism. Affiliated tissues include cortex, brain and breast, and related phenotypes are hypoglycemia and organic aciduria

Disease Ontology : 12 An amino acid metabolic disorder that is classified by 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.

GARD : 20 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.

KEGG : 36 3-Methylcrotonyl-CoA carboxylase (MCC) deficiency is an autosomal recessive disorder of leucine catabolism with a variable phenotype.

Wikipedia : 73 3-Methylcrotonyl-CoA carboxylase deficiency also known as 3-Methylcrotonylglycinuria or BMCC deficiency... more...

Related Diseases for 3-Methylcrotonyl-Coa Carboxylase Deficiency

Diseases related to 3-Methylcrotonyl-Coa Carboxylase Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 76)
# Related Disease Score Top Affiliating Genes
1 hypoglycemia 30.8 SLC22A5 HADHA HADH ACADVL
2 reye syndrome 30.7 SLC22A5 PRODH
3 organic acidemia 29.7 PRODH PCCB MMAA LMBRD1 HLCS GCDH
4 maple syrup urine disease 29.3 PRODH PCCB MMAA HADHA HADH BTD
5 propionic acidemia 29.2 PCCB MMAA LMBRD1 HLCS HADHA ACADVL
6 biotinidase deficiency 29.1 PCCB MMAA HLCS HADHA HADH BTD
7 3-methylcrotonyl-coa carboxylase 1 deficiency 11.6
8 3-methylcrotonyl-coa carboxylase 2 deficiency 11.5
9 autosomal recessive disease 10.7
10 hypotonia 10.6
11 inherited metabolic disorder 10.5
12 respiratory failure 10.4
13 down syndrome 10.4
14 schizencephaly 10.4
15 autism spectrum disorder 10.4
16 chromosomal triplication 10.3
17 atrial standstill 1 10.3
18 gastroesophageal reflux 10.3
19 attention deficit-hyperactivity disorder 10.3
20 ocular motor apraxia 10.3
21 cyanosis, transient neonatal 10.3
22 aspiration pneumonia 10.3
23 metabolic acidosis 10.3
24 leukodystrophy 10.3
25 quadriplegia 10.3
26 status epilepticus 10.3
27 cerebral palsy 10.3
28 encephalomalacia 10.3
29 relapsing-remitting multiple sclerosis 10.3
30 dystonia 10.3
31 cerebral atrophy 10.3
32 encephalopathy 10.3
33 histidine metabolism disease 10.2 PRODH ADSL
34 hyperprolinemia, type i 10.1 PRODH ADSL
35 purine-pyrimidine metabolic disorder 10.1 PRODH ADSL
36 argininemia 10.1 SLC25A13 PRODH HADHA
37 alpha-methylacetoacetic aciduria 10.1 MMAA HLCS HADH
38 citrullinemia, classic 10.1 SLC25A13 HADHA ACADVL
39 3-hydroxyacyl-coa dehydrogenase deficiency 10.1 HADHA HADH ACADVL
40 glutamate formiminotransferase deficiency 10.1 MMAA LMBRD1
41 cerebral creatine deficiency syndrome 2 10.1 BTD ADSL
42 histidinemia 10.1 PRODH ADSL
43 long-chain 3-hydroxyacyl-coa dehydrogenase deficiency 10.0 HADHA HADH ACADVL
44 vitamin metabolic disorder 10.0 MMAA LMBRD1
45 complement component 2 deficiency 10.0 HADHA ACADVL
46 carbonic anhydrase va deficiency, hyperammonemia due to 10.0
47 global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies 10.0
48 lactic acidosis 10.0
49 argininosuccinic aciduria 10.0 SLC25A13 HADH ADSL
50 holocarboxylase synthetase deficiency 10.0 LMBRD1 HLCS BTD

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:

58 31 (show all 12)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypoglycemia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001943
2 organic aciduria 58 31 hallmark (90%) Very frequent (99-80%) HP:0001992
3 hypotonia 31 hallmark (90%) HP:0001252
4 abnormal circulating leucine concentration 31 hallmark (90%) HP:0004357
5 abnormality of movement 58 31 frequent (33%) Frequent (79-30%) HP:0100022
6 failure to thrive in infancy 58 31 frequent (33%) Frequent (79-30%) HP:0001531
7 hyperammonemia 58 31 frequent (33%) Frequent (79-30%) HP:0001987
8 spasticity 58 31 occasional (7.5%) Occasional (29-5%) HP:0001257
9 respiratory insufficiency 58 31 occasional (7.5%) Occasional (29-5%) HP:0002093
10 abnormality of the cerebral vasculature 58 31 occasional (7.5%) Occasional (29-5%) HP:0100659
11 muscular hypotonia 58 Very frequent (99-80%)
12 abnormality of leucine metabolism 58 Very frequent (99-80%)

Symptoms:

12
  • muscular hypotonia
  • lethargy
  • feeding difficulties
  • muscular atrophy
  • recurrent episodes of vomiting

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:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased hepcidin::fluc mRNA expression GR00253-A 9.43 ACADS ACADVL DUOXA2 GCDH MCCC1 PCCB
2 Resistant to vaccinia virus (VACV-A4L) infection GR00351-A-1 9.17 ACAD8 ACADS HADH HADHA MCCC1 MCCC2

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.03 ACADVL BTD DUOXA2 ETHE1 GCDH HADH
2 homeostasis/metabolism MP:0005376 9.8 ACAD8 ACADS ACADVL BTD DUOXA2 ETHE1
3 renal/urinary system MP:0005367 9.32 ACAD8 ACADS BTD ETHE1 GCDH HADH

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
2 3-Mcc Deficiency 29

Anatomical Context for 3-Methylcrotonyl-Coa Carboxylase Deficiency

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

40
Cortex, Brain, Breast

Publications for 3-Methylcrotonyl-Coa Carboxylase Deficiency

Articles related to 3-Methylcrotonyl-Coa Carboxylase Deficiency:

(show top 50) (show all 98)
# Title Authors PMID Year
1
Primary and maternal 3-methylcrotonyl-CoA carboxylase deficiency: insights from the Israel newborn screening program. 61 6 20
26566957 2016
2
3-Methylcrotonyl-CoA carboxylase deficiency: Mutational spectrum derived from comprehensive newborn screening. 61 6
27601257 2016
3
[A novel compound heterozygous mutation causing 3-methylcrotonyl-CoA carboxylase deficiency]. 6 61
27577216 2016
4
Consanguinity and rare mutations outside of MCCC genes underlie nonspecific phenotypes of MCCD. 61 6
25356967 2015
5
3-methylcrotonyl-CoA carboxylase deficiency: clinical, biochemical, enzymatic and molecular studies in 88 individuals. 61 6
22642865 2012
6
A single mutation in MCCC1 or MCCC2 as a potential cause of positive screening for 3-methylcrotonyl-CoA carboxylase deficiency. 6 61
22264772 2012
7
Mutational spectrum in eight Korean patients with 3-methylcrotonyl-CoA carboxylase deficiency. 6 61
22150417 2012
8
3-Methylcrotonyl-CoA carboxylase deficiency: phenotypic variability in a family. 61 6
19339287 2009
9
Novel mutations in five Japanese patients with 3-methylcrotonyl-CoA carboxylase deficiency. 6 61
17968484 2007
10
Newborn screening for 3-methylcrotonyl-CoA carboxylase deficiency: population heterogeneity of MCCA and MCCB mutations and impact on risk assessment. 6 61
16835865 2006
11
3-Methylcrotonyl-CoA carboxylase deficiency: mutation analysis in 28 probands, 9 symptomatic and 19 detected by newborn screening. 61 6
16010683 2005
12
Consanguineous 3-methylcrotonyl-CoA carboxylase deficiency: early-onset necrotizing encephalopathy with lethal outcome. 6 61
15877210 2005
13
Molecular mechanism of dominant expression in 3-methylcrotonyl-CoA carboxylase deficiency. 61 6
15868465 2005
14
Isolated 3-methylcrotonyl-CoA carboxylase deficiency: evidence for an allele-specific dominant negative effect and responsiveness to biotin therapy. 61 6
15359379 2004
15
Cloning of the human MCCA and MCCB genes and mutations therein reveal the molecular cause of 3-methylcrotonyl-CoA: carboxylase deficiency. 6 61
11406611 2001
16
The molecular basis of 3-methylcrotonylglycinuria, a disorder of leucine catabolism. 6 61
11170888 2001
17
The molecular basis of human 3-methylcrotonyl-CoA carboxylase deficiency. 6 61
11181649 2001
18
Metabolic stroke in isolated 3-methylcrotonyl-CoA carboxylase deficiency. 61 6
10485305 1999
19
Isolated 3-methylcrotonyl-CoA carboxylase deficiency in a 15-year-old girl. 61 6
9187484 1997
20
Isolated (biotin-resistant) 3-methylcrotonyl-CoA carboxylase deficiency: four sibs devoid of pathology. 6 61
8598650 1995
21
Isolated biotin-resistant deficiency of 3-methylcrotonyl-CoA carboxylase presenting as a clinically severe form in a newborn with fatal outcome. 61 6
1293382 1992
22
Isolated biotin-resistant 3-methylcrotonyl-CoA carboxylase deficiency in two sibs. 6 61
7128647 1982
23
Value of genetic analysis for confirming inborn errors of metabolism detected through the Spanish neonatal screening program. 6
30626930 2019
24
Maternal 3-methylcrotonyl-coenzyme A carboxylase deficiency with elevated 3-hydroxyisovalerylcarnitine in breast milk. 6
28018443 2016
25
Outcomes of cases with 3-methylcrotonyl-CoA carboxylase (3-MCC) deficiency - Report from the Inborn Errors of Metabolism Information System. 6
27033733 2016
26
Identification of eight novel mutations and transcript analysis of two splicing mutations in Chinese newborns with MCC deficiency. 6
25382614 2015
27
Pathogenic variants for Mendelian and complex traits in exomes of 6,517 European and African Americans: implications for the return of incidental results. 6
25087612 2014
28
[Clinical and mutational features of maternal 3-methylcrotonyl coenzyme deficiency]. 6
24078573 2013
29
Uneventful clinical courses of Korean patients with methylcrotonylglycinuria and their common mutations. 6
22030835 2012
30
Novel mutations in the human MCCA and MCCB gene causing methylcrotonylglycinuria. 6
21071250 2011
31
Potential misdiagnosis of 3-methylcrotonyl-coenzyme A carboxylase deficiency associated with absent or trace urinary 3-methylcrotonylglycine. 6
17908719 2007
32
Functional analysis of MCCA and MCCB mutations causing methylcrotonylglycinuria. 6
14680978 2003
33
3-Methylcrotonyl-coenzyme A carboxylase deficiency in Amish/Mennonite adults identified by detection of increased acylcarnitines in blood spots of their children. 6
9544913 1998
34
Difficulties in the dietary management of a girl with two diseases requiring a special diet. 61
33743568 2021
35
3-Methylcrotonyl-CoA carboxylase deficiency newborn screening in a population of 536,008: is routine screening necessary? 61
31730530 2019
36
Expanded Newborn Screening for Inborn Errors of Metabolism by Tandem Mass Spectrometry in Suzhou, China: Disease Spectrum, Prevalence, Genetic Characteristics in a Chinese Population. 61
31737040 2019
37
Diversity in the incidence and spectrum of organic acidemias, fatty acid oxidation disorders, and amino acid disorders in Asian countries: Selective screening vs. expanded newborn screening. 61
29946514 2018
38
Biochemical and molecular characterization of 3-Methylcrotonylglycinuria in an Italian asymptomatic girl. 61
29767664 2018
39
Next generation sequencing as a follow-up test in an expanded newborn screening programme. 61
29111448 2018
40
Difficulties in the dietary management of a girl with two diseases requiring a special diet. 61
30281517 2018
41
[Screening for newborn organic aciduria in Zhejiang province:prevalence, outcome and follow-up]. 61
29039164 2017
42
Acylglycine Analysis by Ultra-Performance Liquid Chromatography-Tandem Mass Spectrometry (UPLC-MS/MS). 61
27727436 2016
43
Qualitative urinary organic acid analysis: 10 years of quality assurance. 61
27146437 2016
44
3-Methylcrotonyl-CoA carboxylase deficiency: to screen or not to screen? 61
26660660 2016
45
An asymptomatic mother diagnosed with 3-methylcrotonyl-CoA carboxylase deficiency after newborn screening. 61
25381946 2015
46
Brain magnetic resonance imaging and proton MR spectroscopic findings after metabolic crisis in 3-methylcrotonylglycinuria. 61
26142941 2015
47
Is L-Carnitine Supplementation Beneficial in 3-Methylcrotonyl-CoA Carboxylase Deficiency? 61
25732994 2015
48
Asymptomatic maternal 3-methylcrotonylglycinuria detected by her unaffected baby's neonatal screening test. 61
25114694 2014
49
Analysis of cases of 3-methylcrotonyl CoA carboxylase deficiency (3-MCCD) in the California newborn screening program reported in the state database. 61
24103308 2013
50
Neurochemical evidence that the metabolites accumulating in 3-methylcrotonyl-CoA carboxylase deficiency induce oxidative damage in cerebral cortex of young rats. 61
23053545 2013

Variations for 3-Methylcrotonyl-Coa Carboxylase Deficiency

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

6 (show top 50) (show all 479)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 MCCC2 NM_022132.5(MCCC2):c.517dup (p.Ser173fs) Duplication Pathogenic 1919 rs587776533 GRCh37: 5:70900186-70900187
GRCh38: 5:71604359-71604360
2 MCCC2 NM_022132.5(MCCC2):c.464G>A (p.Arg155Gln) SNV Pathogenic 1921 rs119103220 GRCh37: 5:70898413-70898413
GRCh38: 5:71602586-71602586
3 MCCC2 NM_022132.5(MCCC2):c.929C>G (p.Pro310Arg) SNV Pathogenic 1922 rs119103221 GRCh37: 5:70931003-70931003
GRCh38: 5:71635176-71635176
4 MCCC2 NM_022132.5(MCCC2):c.569A>G (p.His190Arg) SNV Pathogenic 1926 rs119103225 GRCh37: 5:70900240-70900240
GRCh38: 5:71604413-71604413
5 MCCC2 NM_022132.5(MCCC2):c.803G>C (p.Arg268Thr) SNV Pathogenic 1924 rs119103223 GRCh37: 5:70928012-70928012
GRCh38: 5:71632185-71632185
6 MCCC2 NC_000005.10:g.(?_71626620)_(71649273_?)del Deletion Pathogenic 467801 GRCh37:
GRCh38: 5:71626620-71649273
7 MCCC2 NM_022132.5(MCCC2):c.987dup (p.Asp330Ter) Duplication Pathogenic 467810 rs1554137532 GRCh37: 5:70931058-70931059
GRCh38: 5:71635231-71635232
8 MCCC2 NM_022132.5(MCCC2):c.688A>G (p.Asn230Asp) SNV Pathogenic 577397 rs766753795 GRCh37: 5:70922530-70922530
GRCh38: 5:71626703-71626703
9 MCCC2 NM_022132.5(MCCC2):c.735dup (p.Val247fs) Duplication Pathogenic 582906 rs770769655 GRCh37: 5:70922571-70922572
GRCh38: 5:71626744-71626745
10 MCCC2 NM_022132.5(MCCC2):c.891_892del (p.Lys298fs) Deletion Pathogenic 641165 rs1580319814 GRCh37: 5:70930856-70930857
GRCh38: 5:71635029-71635030
11 MCCC2 NM_022132.5(MCCC2):c.581del (p.Thr194fs) Deletion Pathogenic 649288 rs1190325113 GRCh37: 5:70900252-70900252
GRCh38: 5:71604425-71604425
12 MCCC2 NC_000005.10:g.(?_71587406)_(71656880_?)del Deletion Pathogenic 832868 GRCh37: 5:70883233-70952707
GRCh38:
13 MCCC2 NM_022132.5(MCCC2):c.562C>T (p.Arg188Ter) SNV Pathogenic 841748 GRCh37: 5:70900233-70900233
GRCh38: 5:71604406-71604406
14 MCCC2 NM_022132.5(MCCC2):c.512-1G>A SNV Pathogenic 938097 GRCh37: 5:70900182-70900182
GRCh38: 5:71604355-71604355
15 MCCC2 NM_022132.5(MCCC2):c.1103del (p.Gly368fs) Deletion Pathogenic 940476 GRCh37: 5:70939675-70939675
GRCh38: 5:71643848-71643848
16 MCCC2 NM_022132.5(MCCC2):c.557del (p.Pro186fs) Deletion Pathogenic 941833 GRCh37: 5:70900227-70900227
GRCh38: 5:71604400-71604400
17 MCCC2 NC_000005.10:g.71632121del Deletion Pathogenic 934991 GRCh37: 5:70927947-70927947
GRCh38: 5:71632120-71632120
18 MCCC2 NM_022132.5(MCCC2):c.175C>T (p.Arg59Ter) SNV Pathogenic 948935 rs760881963 GRCh37: 5:70888798-70888798
GRCh38: 5:71592971-71592971
19 MCCC2 NM_022132.5(MCCC2):c.913G>T (p.Glu305Ter) SNV Pathogenic 975892 GRCh37: 5:70930987-70930987
GRCh38: 5:71635160-71635160
20 MCCC2 NM_022132.5(MCCC2):c.1216+2T>A SNV Pathogenic 982869 GRCh37: 5:70942106-70942106
GRCh38: 5:71646279-71646279
21 MCCC2 NM_022132.5(MCCC2):c.181G>T (p.Glu61Ter) SNV Pathogenic 963404 GRCh37: 5:70888804-70888804
GRCh38: 5:71592977-71592977
22 MCCC2 NM_022132.5(MCCC2):c.214C>T (p.Arg72Ter) SNV Pathogenic 286933 rs147903984 GRCh37: 5:70892124-70892124
GRCh38: 5:71596297-71596297
23 MCCC2 NM_022132.5(MCCC2):c.1064T>A (p.Leu355Ter) SNV Pathogenic 958438 GRCh37: 5:70936894-70936894
GRCh38: 5:71641067-71641067
24 MCCC1 NM_020166.5(MCCC1):c.1594G>C (p.Asp532His) SNV Pathogenic 1931 rs119103214 GRCh37: 3:182755006-182755006
GRCh38: 3:183037218-183037218
25 MCCC1 NM_020166.5(MCCC1):c.1310T>C (p.Leu437Pro) SNV Pathogenic 1932 rs119103215 GRCh37: 3:182756881-182756881
GRCh38: 3:183039093-183039093
26 MCCC1 NM_020166.5(MCCC1):c.1604C>T (p.Ser535Phe) SNV Pathogenic 1933 rs119103216 GRCh37: 3:182751856-182751856
GRCh38: 3:183034068-183034068
27 MCCC1 NM_020166.5(MCCC1):c.2079del (p.Thr693_Val694insTer) Deletion Pathogenic 1934 rs119103217 GRCh37: 3:182733325-182733325
GRCh38: 3:183015537-183015537
28 MCCC1 NM_020166.5(MCCC1):c.1380T>G (p.Ile460Met) SNV Pathogenic 1935 rs119103218 GRCh37: 3:182755220-182755220
GRCh38: 3:183037432-183037432
29 MCCC1 NM_020166.5(MCCC1):c.1114C>T (p.Gln372Ter) SNV Pathogenic 193913 rs544349961 GRCh37: 3:182759508-182759508
GRCh38: 3:183041720-183041720
30 MCCC1 NM_020166.5(MCCC1):c.1526del (p.Cys509fs) Deletion Pathogenic 167269 rs727504002 GRCh37: 3:182755074-182755074
GRCh38: 3:183037286-183037286
31 MCCC1 NM_020166.5(MCCC1):c.841C>T (p.Arg281Ter) SNV Pathogenic 203795 rs185741664 GRCh37: 3:182775131-182775131
GRCh38: 3:183057343-183057343
32 MCCC2 NM_022132.5(MCCC2):c.1065A>T (p.Leu355Phe) SNV Pathogenic 203806 rs757052602 GRCh37: 5:70936895-70936895
GRCh38: 5:71641068-71641068
33 MCCC1 NM_020166.5(MCCC1):c.987_988del (p.His329fs) Deletion Pathogenic 476402 rs1553856095 GRCh37: 3:182763296-182763297
GRCh38: 3:183045508-183045509
34 MCCC1 NM_020166.5(MCCC1):c.169_170AG[1] (p.Gly58fs) Microsatellite Pathogenic 476395 rs1311374961 GRCh37: 3:182810298-182810299
GRCh38: 3:183092510-183092511
35 MCCC1 NM_020166.5(MCCC1):c.639+2T>A SNV Pathogenic 476398 rs199914879 GRCh37: 3:182788996-182788996
GRCh38: 3:183071208-183071208
36 MCCC1 NM_020166.5(MCCC1):c.1263dup (p.Gln422fs) Duplication Pathogenic 476392 rs762463137 GRCh37: 3:182759358-182759359
GRCh38: 3:183041570-183041571
37 MCCC1 NM_020166.5(MCCC1):c.1819_1832del (p.Ser607fs) Deletion Pathogenic 476396 rs1553850609 GRCh37: 3:182740242-182740255
GRCh38: 3:183022454-183022467
38 MCCC2 NM_022132.5(MCCC2):c.1441G>A (p.Val481Met) SNV Pathogenic 194556 rs767575019 GRCh37: 5:70945963-70945963
GRCh38: 5:71650136-71650136
39 MCCC1 NM_020166.5(MCCC1):c.1973_1977+28del Deletion Pathogenic 498130 rs776641008 GRCh37: 3:182737890-182737922
GRCh38: 3:183020102-183020134
40 MCCC1 NM_020166.5(MCCC1):c.872C>T (p.Ala291Val) SNV Pathogenic 476401 rs201041864 GRCh37: 3:182775100-182775100
GRCh38: 3:183057312-183057312
41 MCCC1 NM_020166.5(MCCC1):c.1225C>T (p.Arg409Ter) SNV Pathogenic 488805 rs1484347924 GRCh37: 3:182759397-182759397
GRCh38: 3:183041609-183041609
42 MCCC1 NM_020166.5(MCCC1):c.1930G>T (p.Glu644Ter) SNV Pathogenic 503626 rs905321122 GRCh37: 3:182737965-182737965
GRCh38: 3:183020177-183020177
43 MCCC1 NM_020166.5(MCCC1):c.1679dup (p.Asn560fs) Duplication Pathogenic 542948 rs1394547323 GRCh37: 3:182751780-182751781
GRCh38: 3:183033992-183033993
44 MCCC1 NM_020166.5(MCCC1):c.1191_1192TG[1] (p.Val398fs) Microsatellite Pathogenic 203798 rs796051985 GRCh37: 3:182759428-182759429
GRCh38: 3:183041640-183041641
45 MCCC1 NM_020166.5(MCCC1):c.343C>T (p.Gln115Ter) SNV Pathogenic 570190 rs920162850 GRCh37: 3:182804507-182804507
GRCh38: 3:183086719-183086719
46 MCCC1 NM_020166.5(MCCC1):c.1257_1263del (p.Val420fs) Deletion Pathogenic 573746 rs1560224024 GRCh37: 3:182759359-182759365
GRCh38: 3:183041571-183041577
47 MCCC1 NM_020166.5(MCCC1):c.739_742delinsATAGCATAGC (p.Glu247_Lys248delinsIleAlaTer) Indel Pathogenic 580668 rs1560256569 GRCh37: 3:182788806-182788809
GRCh38: 3:183071018-183071021
48 MCCC1 NM_020166.5(MCCC1):c.980C>G (p.Ser327Ter) SNV Pathogenic 265231 rs750484977 GRCh37: 3:182763304-182763304
GRCh38: 3:183045516-183045516
49 MCCC1 NM_020166.5(MCCC1):c.945T>A (p.Tyr315Ter) SNV Pathogenic 488806 rs150862707 GRCh37: 3:182769957-182769957
GRCh38: 3:183052169-183052169
50 MCCC1 NM_020166.5(MCCC1):c.704del (p.Ala235fs) Deletion Pathogenic 643119 rs1577328234 GRCh37: 3:182788844-182788844
GRCh38: 3:183071056-183071056

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:

36
# 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 17)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.74 SLC25A13 PRODH PCCB MMAA MCCC2 MCCC1
2
Show member pathways
12.76 PCCB MMAA HADHA HADH ACADVL ACADS
3
Show member pathways
12.47 PCCB MMAA MCCC2 MCCC1 LMBRD1 HLCS
4
Show member pathways
12.28 HADHA HADH GCDH ACADVL ACADS
5
Show member pathways
11.69 HADHA HADH GCDH
6
Show member pathways
11.67 PCCB MMAA MCCC2 MCCC1
7 11.5 HADHA HADH GCDH
8
Show member pathways
11.38 HADHA HADH GCDH ACADVL ACADS
9
Show member pathways
11.25 HADHA HADH ACADS
10
Show member pathways
11.25 PCCB MMAA HADHA HADH ACADVL ACADS
11
Show member pathways
11.24 PCCB MCCC2 MCCC1 HADHA HADH ACADS
12 11.16 PCCB HADHA ACADS
13 10.95 LMBRD1 BTD
14 10.88 MMAA LMBRD1
15
Show member pathways
10.62 PCCB MCCC2 MCCC1
16
Show member pathways
10.54 HADHA HADH
17 9.95 HLCS BTD

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 9.8 SLC25A13 PRODH PCCB MMAA MCCC2 MCCC1
2 mitochondrial matrix GO:0005759 9.4 PRODH PCCB MMAA MCCC2 MCCC1 HADH
3 methylcrotonoyl-CoA carboxylase complex GO:1905202 9.26 MCCC2 MCCC1
4 3-methylcrotonyl-CoA carboxylase complex, mitochondrial GO:0002169 9.16 MCCC2 MCCC1

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 9.85 HADHA HADH ACADVL ACADS ACAD8
2 fatty acid metabolic process GO:0006631 9.73 HADHA HADH ACADVL ACADS
3 oxidation-reduction process GO:0055114 9.56 PRODH HADHA HADH GCDH ETHE1 ACADVL
4 branched-chain amino acid catabolic process GO:0009083 9.5 MCCC2 MCCC1 ACAD8
5 cobalamin metabolic process GO:0009235 9.48 MMAA LMBRD1
6 fatty acid beta-oxidation GO:0006635 9.46 HADHA HADH ACADVL ACADS
7 fatty acid beta-oxidation using acyl-CoA dehydrogenase GO:0033539 9.43 GCDH ACADVL ACADS
8 leucine catabolic process GO:0006552 9.4 MCCC2 MCCC1
9 short-chain fatty acid catabolic process GO:0019626 9.37 PCCB MMAA
10 biotin metabolic process GO:0006768 9.02 PCCB MCCC2 MCCC1 HLCS BTD

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

# Name GO ID Score Top Affiliating Genes
1 identical protein binding GO:0042802 10.02 SLC25A13 MMAA HLCS HADH ETHE1 ADSL
2 oxidoreductase activity GO:0016491 9.76 PRODH HADHA HADH GCDH ETHE1 ACADVL
3 ligase activity GO:0016874 9.71 PCCB MCCC2 MCCC1 HLCS
4 flavin adenine dinucleotide binding GO:0050660 9.56 GCDH ACADVL ACADS ACAD8
5 fatty-acyl-CoA binding GO:0000062 9.5 HADHA GCDH ACADVL
6 3-hydroxyacyl-CoA dehydrogenase activity GO:0003857 9.46 HADHA HADH
7 biotin binding GO:0009374 9.43 MCCC1 HLCS
8 methylcrotonoyl-CoA carboxylase activity GO:0004485 9.37 MCCC2 MCCC1
9 oxidoreductase activity, acting on the CH-CH group of donors GO:0016627 9.26 GCDH ACADVL ACADS ACAD8
10 acyl-CoA dehydrogenase activity GO:0003995 8.92 GCDH ACADVL ACADS ACAD8

Sources for 3-Methylcrotonyl-Coa Carboxylase Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....