MCID: 3MT001
MIFTS: 50

3-Methylcrotonyl-Coa Carboxylase Deficiency malady

Categories: Genetic diseases, Rare diseases, Metabolic diseases

Aliases & Classifications for 3-Methylcrotonyl-Coa Carboxylase Deficiency

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Sources:
10Disease Ontology, 45NIH Rare Diseases, 22GeneTests, 23Genetics Home Reference, 12DISEASES, 51Orphanet, 24GTR, 65UMLS, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet
See all MalaCards sources

Aliases & Descriptions for 3-Methylcrotonyl-Coa Carboxylase Deficiency:

Name: 3-Methylcrotonyl-Coa Carboxylase Deficiency 10 45 22 23 12 51
3-Methylcrotonylglycinuria 10 45 23 51
Mcc Deficiency 45 23 51
Methylcrotonyl-Coa Carboxylase Deficiency 23 24
3-Mcc Deficiency 45 23
Bmcc Deficiency 10 23
3mcc 45 23
 
Mccd 45 51
Isolated 3-Methylcrotonyl-Coa Carboxylase Deficiency 45
3-Methylcrotonyl-Coenzyme a Carboxylase Deficiency 23
Deficiency of Methylcrotonoyl-Coa Carboxylase 23
3-Methylcrotonyl Coa Carboxylase 1 Deficiency 65
3mcc Deficiency 10
3-Mcc 23

Characteristics:

Orphanet epidemiological data:

51
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: Childhood,Infancy,Neonatal; Age of death: normal life expectancy

Classifications:



External Ids:

Disease Ontology10 DOID:0050710
Orphanet51 6
ICD10 via Orphanet28 E71.1
MESH via Orphanet37 C535308
UMLS via Orphanet66 C0268600
UMLS65 C0268600

Summaries for 3-Methylcrotonyl-Coa Carboxylase Deficiency

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NIH Rare Diseases:45 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. last updated: 2/22/2016

MalaCards based summary: 3-Methylcrotonyl-Coa Carboxylase Deficiency, also known as 3-methylcrotonylglycinuria, is related to mccc1-related 3-methylcrotonyl-coa carboxylase deficiency and mccc2-related 3-methylcrotonyl-coa carboxylase deficiency, and has symptoms including muscular hypotonia, hypoglycemia and hyperammonemia. An important gene associated with 3-Methylcrotonyl-Coa Carboxylase Deficiency is MCCC1 (Methylcrotonoyl-CoA Carboxylase 1), and among its related pathways are Defective HLCS causes multiple carboxylase deficiency and Beta oxidation of octanoyl-CoA to hexanoyl-CoA. Affiliated tissues include lung, t cells and bone marrow, and related mouse phenotype homeostasis/metabolism.

Disease Ontology:10 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:23 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.

Related Diseases for 3-Methylcrotonyl-Coa Carboxylase Deficiency

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

(show top 50)    (show all 70)
idRelated DiseaseScoreTop Affiliating Genes
1mccc1-related 3-methylcrotonyl-coa carboxylase deficiency12.8
2mccc2-related 3-methylcrotonyl-coa carboxylase deficiency12.8
33-methylcrotonyl-coa carboxylase 1 deficiency11.3
43-methylcrotonyl-coa carboxylase 2 deficiency11.3
5lymphoma10.7
6hiv-110.6
7myocardial infarction10.5
8asthma10.5
9acute myocardial infarction10.5
10alopecia10.5
11brain injury10.5
12colorectal adenoma10.5
13leukemia10.5
14osteoarthritis10.5
15traumatic brain injury10.5
16acute diarrhea10.5
17lymphoblastic leukemia10.5
18heart disease10.5
19gestational diabetes10.5
20varicocele10.5
21diarrhea10.5
22reye syndrome10.5
23laryngitis10.5
24hermansky-pudlak syndrome10.5
25dyslexia10.5
26myoblastoma10.5
27adenoma10.5
28amyloid tumor10.5
29cowpox10.5
30cocaine dependence10.5
31eisenmenger syndrome10.5
32laryngocele10.5
33neonatal herpes10.5
34primary malignant lymphoma10.5
35wallerian degeneration10.5
36endotheliitis10.5
37kiaa2022-related x-linked mental retardation10.4MCCC1, MCCC2
38was-related disorders10.4ACADM, ACADVL
39deafness, autosomal dominant 2510.4ACADM, ACADS
40myopathy, myofibrillar, 210.4ACADS, HMGCL
41biotinidase deficiency10.4ACADM, MCCC2
42hyperinsulinemic hypoglycemia, familial, 410.4ACADVL, HADH
43external pathological resorption10.4ACADM, HMGCL
44lichen nitidus10.3ACADM, MCCC2
45dyskeratosis congenita, autosomal recessive 110.3ACADM, ACADS, HMGCL
46acyl-coa dehydrogenase, medium chain, deficiency of10.3ACADM, ACADS, ACADVL
47survival motor neuron spinal muscular atrophy10.3ACADM, ACADS, HMGCL
48propionicacidemia10.3ACADM, HMGCL, SLC25A13
49vocal cord scarring10.2ACADS, ACADVL, SLC25A13
50pseudotyphus of california10.2PAH, PTS

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



Diseases related to 3-methylcrotonyl-coa carboxylase deficiency

Symptoms for 3-Methylcrotonyl-Coa Carboxylase Deficiency

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Symptoms:

 51 10 (show all 15)
  • hypoglycemia
  • hypotonia
  • metabolic anomalies
  • organic acid metabolism anomalies
  • movement disorder
  • hyperammonemia
  • failure to thrive/difficulties for feeding in infancy/growth delay
  • respiratory distress/dyspnea/respiratory failure/lung volume reduction
  • cerebral vascular anomalies
  • hypertonia/spasticity/rigidity/stiffness
  • muscular hypotonia (weak muscle tone)
  • muscular atrophy
  • feeding difficulties
  • recurrent episodes of vomiting
  • lethargy

HPO human phenotypes related to 3-Methylcrotonyl-Coa Carboxylase Deficiency:

(show all 7)
id Description Frequency HPO Source Accession
1 muscular hypotonia hallmark (90%) HP:0001252
2 hypoglycemia hallmark (90%) HP:0001943
3 hyperammonemia typical (50%) HP:0001987
4 abnormality of movement typical (50%) HP:0100022
5 hypertonia occasional (7.5%) HP:0001276
6 respiratory insufficiency occasional (7.5%) HP:0002093
7 abnormality of the cerebral vasculature occasional (7.5%) HP:0100659

Drugs & Therapeutics for 3-Methylcrotonyl-Coa Carboxylase Deficiency

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Interventional clinical trials:

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

Genetic Tests for 3-Methylcrotonyl-Coa Carboxylase Deficiency

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

id Genetic test Affiliating Genes
1 3-Methylcrotonyl-Coa Carboxylase Deficiency22

Anatomical Context for 3-Methylcrotonyl-Coa Carboxylase Deficiency

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

33
Lung, T cells, Bone marrow, Colon, Thyroid, Prostate, Neutrophil

Animal Models for 3-Methylcrotonyl-Coa Carboxylase Deficiency or affiliated genes

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

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053767.8ACADM, ACADS, ACADVL, GALT, HADH, HMGCL

Publications for 3-Methylcrotonyl-Coa Carboxylase Deficiency

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Articles related to 3-Methylcrotonyl-Coa Carboxylase Deficiency:

(show all 40)
idTitleAuthorsYear
1
Rosai-Dorfman Disease Harboring an Activating KRAS K117N Missense Mutation. (26922062)
2016
2
Radiological diagnosis of spinal arachnoid cysts: A pictorial essay. (27160059)
2016
3
HIV infection presenting as bone marrow cryptococcosis. (25161991)
2014
4
MRP1 and GSTp1 expression in non-small cell lung cancer does not correlate with clinicopathological parameters: A Slovakian population study. (25258012)
2014
5
Auer rods in a patient with chronic myelomonocytic leukemia type 2. (25635282)
2014
6
Association study of chemokine (C-C motif) ligand 5 gene polymorphism and papillary thyroid cancer. (23957698)
2013
7
Ocular inflammatory diseases associated with rheumatoid arthritis. (24323074)
2013
8
Disseminated discoid lupus erythematosus leading to squamous cell carcinoma. (22615523)
2012
9
Therapeutic drug monitoring for busulfan in plasma during conditioning chemotherapy for autologous stem cell transplantation in relapsed primary cerebral lymphoma. (20386358)
2010
10
Role of the intra-A-chain disulfide bond of insulin-like peptide 3 in binding and activation of its receptor, RXFP2. (20570702)
2010
11
MicroRNA 203 expression in keratinocytes is dependent on regulation of p53 levels by E6. (20702634)
2010
12
A ribosome-associating factor chaperones tail-anchored membrane proteins. (20676083)
2010
13
Spontaneous resolution of pulmonary nodules in autoimmune pancreatitis. (21068501)
2010
14
Biodegradable intraocular therapies for retinal disorders: progress to date. (20104938)
2010
15
Cerebrovascular disease: novel mechanism of cerebral microvascularrecanalization demonstrated in mice. (20718112)
2010
16
Implication of activated astrocytes in the development of drug dependence: differences between methamphetamine and morphine. (18991953)
2008
17
Effect of lycopene on insulin-like growth factor-I, IGF binding protein-3 and IGF type-I receptor in prostate cancer cells. (17219202)
2007
18
Plasminogen activator inhibitor (PAI)-1 in vascular inflammation and thrombosis. (17485272)
2007
19
Urinary retention can be the sole initial manifestation of acute myelitis. (17092521)
2006
20
JunB as a downstream mediator of PTHrP actions in cementoblasts. (16418780)
2006
21
A benign congenital myopathy in an inbred Samaritan family. (16959509)
2006
22
The functional (-1171 5A-->6A) polymorphisms of matrix metalloproteinase 3 gene as a risk factor for oral submucous fibrosis among male areca users. (16430740)
2006
23
S100A8 chemotactic protein is abundantly increased, but only a minor contributor to LPS-induced, steroid resistant neutrophilic lung inflammation in vivo. (15707368)
2005
24
Contribution of RPB2 to multilocus phylogenetic studies of the euascomycetes (Pezizomycotina, Fungi) with special emphasis on the lichen-forming Acarosporaceae and evolution of polyspory. (15288074)
2004
25
Flow cytometric study of low density lipoprotein receptors: biological and clinical interest]. (15047497)
2004
26
Angiotensin converting enzyme gene polymorphism and myocardial infarction a large association and linkage study. (12676179)
2003
27
Autoantibodies to IL-12 in myasthenia gravis patients with thymoma; effects on the IFN-gamma responses of healthy CD4+ T cells. (12799027)
2003
28
From gene to disease; adrenocortical insufficiency, achalasia and disrupted tear secretion: Allgrove syndrome]. (12497758)
2002
29
Plasma membrane Ca2+ATPase isoform 4b is cleaved and activated by caspase-3 during the early phase of apoptosis. (11751908)
2002
30
Spondylar dysplasia in type X collagenopathy. (11214689)
2001
31
T cell regulation of p62(dok) (Dok1) association with Crk-L. (11553620)
2001
32
Bethlem myopathy and engineered collagen VI triple helical deletions prevent intracellular multimer assembly and protein secretion. (10419498)
1999
33
N-myristoylation of Arf proteins in Candida albicans: an in vivo assay for evaluating antifungal inhibitors of myristoyl-CoA: protein N-myristoyltransferase. (9043113)
1997
34
Ectopic application of recombinant BMP-2 and BMP-4 can change patterning of developing chick facial primordia. (9053315)
1997
35
The current status of vaccine against chickenpox. (8772919)
1996
36
Voluminous solitary non-Hodgkin extraganglionary lymphoma of thigh. (7849284)
1993
37
The modulation by L-leucovorin of 5-fluorouracil antitumor activity on human colon carcinoma cells in vitro and in vivo. (8369613)
1993
38
Clinical features of carcinoid syndrome and the use of somatostatin analogue in its management. (2663049)
1989
39
Hepatic ascariasis. (7157101)
1982
40
Verrucous carcinoma arising from a burn scar. (7239751)
1981

Variations for 3-Methylcrotonyl-Coa Carboxylase Deficiency

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

5
id Gene Variation Type Significance SNP ID Assembly Location
1MCCC1NM_020166.4(MCCC1): c.1905delA (p.Lys635Asnfs)deletionPathogenicrs727504001GRCh37Chr 3, 182737990: 182737990
2MCCC1NM_020166.4(MCCC1): c.1526delG (p.Cys509Serfs)deletionPathogenicrs727504002GRCh37Chr 3, 182755074: 182755074
3MCCC1NM_020166.4(MCCC1): c.640-1G> Asingle nucleotide variantPathogenicrs727504005GRCh37Chr 3, 182788909: 182788909
4MCCC1NM_020166.4(MCCC1): c.137-2A> Gsingle nucleotide variantPathogenicrs727504006GRCh37Chr 3, 182810335: 182810335
5MCCC1NM_020166.4(MCCC1): c.974T> G (p.Met325Arg)single nucleotide variantPathogenicrs119103212GRCh37Chr 3, 182763310: 182763310
6MCCC1NM_020166.4(MCCC1): c.1155A> C (p.Arg385Ser)single nucleotide variantPathogenicrs119103213GRCh37Chr 3, 182759467: 182759467
7MCCC1NM_020166.4(MCCC1): c.1114C> T (p.Gln372Ter)single nucleotide variantPathogenicrs544349961GRCh37Chr 3, 182759508: 182759508
8MCCC1NM_020166.4(MCCC1): c.1074delG (p.Trp358Cysfs)deletionPathogenicrs398124350GRCh37Chr 3, 182763210: 182763210

Expression for genes affiliated with 3-Methylcrotonyl-Coa Carboxylase Deficiency

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

Pathways for genes affiliated with 3-Methylcrotonyl-Coa Carboxylase Deficiency

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

(show all 11)
idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
10.0MCCC1, MCCC2
2
Show member pathways
9.9ACADM, HADH
39.7ACADM, ACADVL, HADH
4
Show member pathways
9.7ACADS, HADH, HMGCL
5
Show member pathways
9.4ACADM, ACADS, ACADVL, HADH
6
Show member pathways
9.4ACADM, ACADS, ACADVL, HADH
7
Show member pathways
9.4ACADM, ACADS, ACADVL, HADH
8
Show member pathways
9.2ACADM, ACADS, ACADVL, HADH, HMGCL
9
Show member pathways
9.0ACADM, ACADS, HADH, HMGCL, MCCC1, MCCC2
10
Show member pathways
8.5CGB3, CGB7, CGB8
11
Show member pathways
7.2ACADM, ACADS, ACADVL, GALT, HADH, HMGCL

GO Terms for genes affiliated with 3-Methylcrotonyl-Coa Carboxylase Deficiency

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

idNameGO IDScoreTop Affiliating Genes
1fatty acid beta-oxidation using acyl-CoA dehydrogenaseGO:003353910.6ACADS, ACADVL
2response to starvationGO:004259410.3ACADM, HMGCL
3oxidation-reduction processGO:00551149.0ACADM, ACADS, ACADVL, PAH
4peptide hormone processingGO:00164868.9CGB3, CGB7, CGB8
5cell-cell signalingGO:00072678.8CGB3, CGB7, CGB8
6cellular protein metabolic processGO:00442678.3ACADVL, CGB3, CGB7, CGB8

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

idNameGO IDScoreTop Affiliating Genes
1fatty-acyl-CoA bindingGO:000006210.2ACADS, ACADVL
2electron carrier activityGO:000905510.0ACADM, ACADVL
3oxidoreductase activity, acting on the CH-CH group of donorsGO:00166279.7ACADM, ACADS

Sources for 3-Methylcrotonyl-Coa Carboxylase Deficiency

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet