MCC1D
MCID: 3MT011
MIFTS: 38

3-Methylcrotonyl-Coa Carboxylase 1 Deficiency (MCC1D)

Categories: Genetic diseases, Metabolic diseases, Muscle diseases

Aliases & Classifications for 3-Methylcrotonyl-Coa Carboxylase 1 Deficiency

MalaCards integrated aliases for 3-Methylcrotonyl-Coa Carboxylase 1 Deficiency:

Name: 3-Methylcrotonyl-Coa Carboxylase 1 Deficiency 57 12 13 15
3 Methylcrotonyl-Coa Carboxylase 1 Deficiency 29 6 39
Methylcrotonylglycinuria Type I 57 72
Mcc1 Deficiency 57 72
Mccd Type 1 57 72
Mcc1d 57 72
3-Methylcrotonoyl-Coa Carboxylase 1 Deficiency 72
3-Methylcrotonyl Coa Carboxylase 1 Deficiency 70
3-Methylcrotonylglycinuria Type I 72
3-Methylcrotonylglycinuria I 57
Mcgi 72

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

Miscellaneous:
highly variable phenotype
may present in infancy with episodes of severe metabolic decompensation
may be present in asymptomatic adults
not responsive to biotin treatment
genetic heterogeneity (see mcc2 deficiency )
detected in 1/50,000 in neonatal screening programs


HPO:

31
3-methylcrotonyl-coa carboxylase 1 deficiency:
Inheritance autosomal recessive inheritance heterogeneous


Classifications:



Summaries for 3-Methylcrotonyl-Coa Carboxylase 1 Deficiency

UniProtKB/Swiss-Prot : 72 3-methylcrotonoyl-CoA carboxylase 1 deficiency: An autosomal recessive disorder of leucine catabolism. The phenotype is variable, ranging from neonatal onset with severe neurological involvement to asymptomatic adults. There is a characteristic organic aciduria with massive excretion of 3-hydroxyisovaleric acid and 3- methylcrotonylglycine, usually in combination with a severe secondary carnitine deficiency.

MalaCards based summary : 3-Methylcrotonyl-Coa Carboxylase 1 Deficiency, also known as 3 methylcrotonyl-coa carboxylase 1 deficiency, is related to 3-methylcrotonyl-coa carboxylase deficiency and mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes, and has symptoms including seizures, vomiting and lethargy. An important gene associated with 3-Methylcrotonyl-Coa Carboxylase 1 Deficiency is MCCC1 (Methylcrotonyl-CoA Carboxylase Subunit 1), and among its related pathways/superpathways are Gene Expression and rRNA processing in the nucleus and cytosol. Related phenotypes are intellectual disability and hyperreflexia

Disease Ontology : 12 A 3-Methylcrotonyl-CoA carboxylase deficiency that has material basis in homozygous or compound heterozygous mutation in the gene encoding the alpha subunit of 3-methylcrotonyl-CoA carboxylase on chromosome 3q27.

More information from OMIM: 210200 PS210200

Related Diseases for 3-Methylcrotonyl-Coa Carboxylase 1 Deficiency

Diseases related to 3-Methylcrotonyl-Coa Carboxylase 1 Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 3-methylcrotonyl-coa carboxylase deficiency 11.5
2 mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes 9.7 TRMT61B MRM2
3 non-syndromic x-linked intellectual disability 9.6 TRMT61B MRM2

Symptoms & Phenotypes for 3-Methylcrotonyl-Coa Carboxylase 1 Deficiency

Human phenotypes related to 3-Methylcrotonyl-Coa Carboxylase 1 Deficiency:

31 (show all 19)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 31 HP:0001249
2 hyperreflexia 31 HP:0001347
3 failure to thrive 31 HP:0001508
4 global developmental delay 31 HP:0001263
5 feeding difficulties in infancy 31 HP:0008872
6 vomiting 31 HP:0002013
7 hypoglycemia 31 HP:0001943
8 apnea 31 HP:0002104
9 lethargy 31 HP:0001254
10 psychomotor retardation 31 HP:0025356
11 coma 31 HP:0001259
12 generalized hypotonia 31 HP:0001290
13 ketonuria 31 HP:0002919
14 opisthotonus 31 HP:0002179
15 acute hepatic steatosis 31 HP:0006573
16 acute hyperammonemia 31 HP:0008281
17 seizure 31 HP:0001250
18 hypotonia 31 HP:0001252
19 episodic metabolic acidosis 31 HP:0004911

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neurologic Central Nervous System:
seizures
hyperreflexia
lethargy
psychomotor retardation
coma
more
Abdomen Gastrointestinal:
vomiting
feeding difficulties

Metabolic Features:
metabolic acidosis, episodic
metabolic decompensation precipitated by illness
hypoglycemia, acute

Abdomen Liver:
macro- and microvesicular steatosis, acute

Growth Other:
failure to thrive

Muscle Soft Tissue:
hypotonia

Respiratory:
apnea, acute

Laboratory Abnormalities:
urinary excretion of 3-methylcrotonylglycine, chronic
urinary excretion of 3-hydroxyisovaleric acid, chronic
secondary decrease of plasma free carnitine
hyperammonemia, acute
ketonuria, acute
more

Clinical features from OMIM®:

210200 (Updated 20-May-2021)

UMLS symptoms related to 3-Methylcrotonyl-Coa Carboxylase 1 Deficiency:


seizures; vomiting; lethargy; opisthotonus

Drugs & Therapeutics for 3-Methylcrotonyl-Coa Carboxylase 1 Deficiency

Search Clinical Trials , NIH Clinical Center for 3-Methylcrotonyl-Coa Carboxylase 1 Deficiency

Genetic Tests for 3-Methylcrotonyl-Coa Carboxylase 1 Deficiency

Genetic tests related to 3-Methylcrotonyl-Coa Carboxylase 1 Deficiency:

# Genetic test Affiliating Genes
1 3 Methylcrotonyl-Coa Carboxylase 1 Deficiency 29 MCCC1

Anatomical Context for 3-Methylcrotonyl-Coa Carboxylase 1 Deficiency

Publications for 3-Methylcrotonyl-Coa Carboxylase 1 Deficiency

Articles related to 3-Methylcrotonyl-Coa Carboxylase 1 Deficiency:

(show all 39)
# Title Authors PMID Year
1
Consanguinity and rare mutations outside of MCCC genes underlie nonspecific phenotypes of MCCD. 6 57
25356967 2015
2
Novel mutations in five Japanese patients with 3-methylcrotonyl-CoA carboxylase deficiency. 6 57
17968484 2007
3
Newborn screening for 3-methylcrotonyl-CoA carboxylase deficiency: population heterogeneity of MCCA and MCCB mutations and impact on risk assessment. 6 57
16835865 2006
4
Cloning of the human MCCA and MCCB genes and mutations therein reveal the molecular cause of 3-methylcrotonyl-CoA: carboxylase deficiency. 57 6
11406611 2001
5
The molecular basis of human 3-methylcrotonyl-CoA carboxylase deficiency. 57 6
11181649 2001
6
The molecular basis of 3-methylcrotonylglycinuria, a disorder of leucine catabolism. 6 57
11170888 2001
7
Metabolic stroke in isolated 3-methylcrotonyl-CoA carboxylase deficiency. 6 57
10485305 1999
8
Isolated 3-methylcrotonyl-CoA carboxylase deficiency in a 15-year-old girl. 6 57
9187484 1997
9
Value of genetic analysis for confirming inborn errors of metabolism detected through the Spanish neonatal screening program. 6
30626930 2019
10
3-Methylcrotonyl-CoA carboxylase deficiency: Mutational spectrum derived from comprehensive newborn screening. 6
27601257 2016
11
[A novel compound heterozygous mutation causing 3-methylcrotonyl-CoA carboxylase deficiency]. 6
27577216 2016
12
Identification of eight novel mutations and transcript analysis of two splicing mutations in Chinese newborns with MCC deficiency. 6
25382614 2015
13
[Clinical and mutational features of maternal 3-methylcrotonyl coenzyme deficiency]. 6
24078573 2013
14
3-methylcrotonyl-CoA carboxylase deficiency: clinical, biochemical, enzymatic and molecular studies in 88 individuals. 6
22642865 2012
15
A single mutation in MCCC1 or MCCC2 as a potential cause of positive screening for 3-methylcrotonyl-CoA carboxylase deficiency. 6
22264772 2012
16
3-Methylcrotonyl-CoA carboxylase deficiency: phenotypic variability in a family. 6
19339287 2009
17
3-Methylcrotonyl-CoA carboxylase deficiency: mutation analysis in 28 probands, 9 symptomatic and 19 detected by newborn screening. 6
16010683 2005
18
Molecular mechanism of dominant expression in 3-methylcrotonyl-CoA carboxylase deficiency. 6
15868465 2005
19
Isolated 3-methylcrotonyl-CoA carboxylase deficiency: evidence for an allele-specific dominant negative effect and responsiveness to biotin therapy. 6
15359379 2004
20
Functional analysis of MCCA and MCCB mutations causing methylcrotonylglycinuria. 6
14680978 2003
21
Leukodystrophy and CSF purine abnormalities associated with isolated 3-methylcrotonyl-CoA carboxylase deficiency. 57
11893004 2002
22
Benign clinical presentation of 3-methylcrotonylglycinuria. 57
8598648 1995
23
Familial hypotonia of childhood caused by isolated 3-methylcrotonyl-coenzyme A carboxylase deficiency. 57
1517917 1992
24
Isolated 3-methylcrotonyl-CoA carboxylase deficiency in a 16-month-old child. 57
1779635 1991
25
Isolated biotin-resistant 3-methylcrotonyl-CoA carboxylase deficiency presenting as a Reye syndrome-like illness. 57
2515383 1989
26
Isolated biotin-resistant 3-methylcrotonyl CoA carboxylase deficiency presenting with life-threatening hypoglycaemia. 57
6441868 1984
27
Massive excretion of 2-oxoglutaric acid and 3-hydroxyisovaleric acid in a patient with a deficiency of 3-methylcrotonyl-CoA carboxylase. 57
1000869 1976
28
Beta-methylcrotonic aciduria associated with lactic acidosis. 57
1249684 1976
29
Mitochondrial inclusions in fibroblast culture from a patient with beta-methylcrotonylglycinuria. 57
4372354 1974
30
Beta-methylcrotonyl-CoA carboxylase deficiency: a new metabolic error in leucine degradation. 57
5035417 1972
31
Experimental beta-hydroxyisovaleric aciduria induced by biotin deficiency. 57
4097310 1970
32
Beta-hydroxyisovaleric aciduria and beta-methylcrotonylglycinuria: a new inborn error of metabolism. 57
4194964 1970
33
A phase III, randomized, multi-center, double blind, placebo controlled study of safety and efficacy of lofexidine for relief of symptoms in individuals undergoing inpatient opioid withdrawal. 61
28527421 2017
34
HBx induces hypomethylation of distal intragenic CpG islands required for active expression of developmental regulators. 61
24941955 2014
35
Methylation-associated gene silencing of RARB in areca carcinogens induced mouse oral squamous cell carcinoma. 61
25197641 2014
36
Archaeal amoA gene diversity points to distinct biogeography of ammonia-oxidizing Crenarchaeota in the ocean. 61
22690844 2013
37
Contribution of Crenarchaeota and Bacteria to autotrophy in the North Atlantic interior. 61
21418496 2011
38
Identification of a novel splicing isoform of murine CGI-58. 61
20083112 2010
39
An open-label, prospective study of levetiracetam in children and adolescents with Tourette syndrome. 61
19211282 2009

Variations for 3-Methylcrotonyl-Coa Carboxylase 1 Deficiency

ClinVar genetic disease variations for 3-Methylcrotonyl-Coa Carboxylase 1 Deficiency:

6 (show top 50) (show all 200)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 MCCC1 NM_020166.5(MCCC1):c.1594G>C (p.Asp532His) SNV Pathogenic 1931 rs119103214 GRCh37: 3:182755006-182755006
GRCh38: 3:183037218-183037218
2 MCCC1 NM_020166.5(MCCC1):c.1310T>C (p.Leu437Pro) SNV Pathogenic 1932 rs119103215 GRCh37: 3:182756881-182756881
GRCh38: 3:183039093-183039093
3 MCCC1 NM_020166.5(MCCC1):c.1604C>T (p.Ser535Phe) SNV Pathogenic 1933 rs119103216 GRCh37: 3:182751856-182751856
GRCh38: 3:183034068-183034068
4 MCCC1 NM_020166.5(MCCC1):c.2079del (p.Thr693_Val694insTer) Deletion Pathogenic 1934 rs119103217 GRCh37: 3:182733325-182733325
GRCh38: 3:183015537-183015537
5 MCCC1 NM_020166.5(MCCC1):c.1380T>G (p.Ile460Met) SNV Pathogenic 1935 rs119103218 GRCh37: 3:182755220-182755220
GRCh38: 3:183037432-183037432
6 MCCC1 NM_020166.5(MCCC1):c.1114C>T (p.Gln372Ter) SNV Pathogenic 193913 rs544349961 GRCh37: 3:182759508-182759508
GRCh38: 3:183041720-183041720
7 MCCC1 NM_020166.5(MCCC1):c.1526del (p.Cys509fs) Deletion Pathogenic 167269 rs727504002 GRCh37: 3:182755074-182755074
GRCh38: 3:183037286-183037286
8 MCCC1 NM_020166.5(MCCC1):c.841C>T (p.Arg281Ter) SNV Pathogenic 203795 rs185741664 GRCh37: 3:182775131-182775131
GRCh38: 3:183057343-183057343
9 MCCC1 NM_020166.5(MCCC1):c.169_170AG[1] (p.Gly58fs) Microsatellite Pathogenic 476395 rs1311374961 GRCh37: 3:182810298-182810299
GRCh38: 3:183092510-183092511
10 MCCC1 NM_020166.5(MCCC1):c.639+2T>A SNV Pathogenic 476398 rs199914879 GRCh37: 3:182788996-182788996
GRCh38: 3:183071208-183071208
11 MCCC1 NM_020166.5(MCCC1):c.1263dup (p.Gln422fs) Duplication Pathogenic 476392 rs762463137 GRCh37: 3:182759358-182759359
GRCh38: 3:183041570-183041571
12 MCCC1 NM_020166.5(MCCC1):c.1819_1832del (p.Ser607fs) Deletion Pathogenic 476396 rs1553850609 GRCh37: 3:182740242-182740255
GRCh38: 3:183022454-183022467
13 MCCC1 NM_020166.5(MCCC1):c.1973_1977+28del Deletion Pathogenic 498130 rs776641008 GRCh37: 3:182737890-182737922
GRCh38: 3:183020102-183020134
14 MCCC1 NM_020166.5(MCCC1):c.872C>T (p.Ala291Val) SNV Pathogenic 476401 rs201041864 GRCh37: 3:182775100-182775100
GRCh38: 3:183057312-183057312
15 MCCC1 NM_020166.5(MCCC1):c.1191_1192TG[1] (p.Val398fs) Microsatellite Pathogenic 203798 rs796051985 GRCh37: 3:182759428-182759429
GRCh38: 3:183041640-183041641
16 MCCC1 NM_020166.5(MCCC1):c.1257_1263del (p.Val420fs) Deletion Pathogenic 573746 rs1560224024 GRCh37: 3:182759359-182759365
GRCh38: 3:183041571-183041577
17 MCCC1 NM_020166.5(MCCC1):c.739_742delinsATAGCATAGC (p.Glu247_Lys248delinsIleAlaTer) Indel Pathogenic 580668 rs1560256569 GRCh37: 3:182788806-182788809
GRCh38: 3:183071018-183071021
18 MCCC1 NM_020166.5(MCCC1):c.980C>G (p.Ser327Ter) SNV Pathogenic 265231 rs750484977 GRCh37: 3:182763304-182763304
GRCh38: 3:183045516-183045516
19 MCCC1 NM_020166.5(MCCC1):c.945T>A (p.Tyr315Ter) SNV Pathogenic 488806 rs150862707 GRCh37: 3:182769957-182769957
GRCh38: 3:183052169-183052169
20 MCCC1 NM_020166.5(MCCC1):c.343C>T (p.Gln115Ter) SNV Pathogenic 570190 rs920162850 GRCh37: 3:182804507-182804507
GRCh38: 3:183086719-183086719
21 MCCC1 NM_020166.5(MCCC1):c.704del (p.Ala235fs) Deletion Pathogenic 643119 rs1577328234 GRCh37: 3:182788844-182788844
GRCh38: 3:183071056-183071056
22 MCCC1 NM_020166.5(MCCC1):c.1074del (p.Trp358fs) Deletion Pathogenic 95938 rs398124350 GRCh37: 3:182763210-182763210
GRCh38: 3:183045422-183045422
23 MCCC1 NM_020166.5(MCCC1):c.1679dup (p.Asn560fs) Duplication Pathogenic 542948 rs1394547323 GRCh37: 3:182751780-182751781
GRCh38: 3:183033992-183033993
24 MCCC1 NM_020166.5(MCCC1):c.1930G>T (p.Glu644Ter) SNV Pathogenic 503626 rs905321122 GRCh37: 3:182737965-182737965
GRCh38: 3:183020177-183020177
25 MCCC1 NM_020166.5(MCCC1):c.1225C>T (p.Arg409Ter) SNV Pathogenic 488805 rs1484347924 GRCh37: 3:182759397-182759397
GRCh38: 3:183041609-183041609
26 MCCC1 NM_020166.5(MCCC1):c.987_988del (p.His329fs) Deletion Pathogenic 476402 rs1553856095 GRCh37: 3:182763296-182763297
GRCh38: 3:183045508-183045509
27 MCCC1 NM_020166.5(MCCC1):c.673C>T (p.Gln225Ter) SNV Pathogenic 654147 rs779412317 GRCh37: 3:182788875-182788875
GRCh38: 3:183071087-183071087
28 MCCC1 NM_020166.5(MCCC1):c.558del (p.Gln186fs) Deletion Pathogenic 654523 rs1212517901 GRCh37: 3:182789079-182789079
GRCh38: 3:183071291-183071291
29 MCCC1 NC_000003.12:g.(?_183052139)_(183052260_?)del Deletion Pathogenic 665643 GRCh37: 3:182769927-182770048
GRCh38: 3:183052139-183052260
30 MCCC1 NM_020166.5(MCCC1):c.1210dup (p.His404fs) Duplication Pathogenic 653099 rs1577276144 GRCh37: 3:182759411-182759412
GRCh38: 3:183041623-183041624
31 MCCC1 NC_000003.12:g.(?_183070989)_(183072497_?)del Deletion Pathogenic 831678 GRCh37: 3:182788777-182790285
GRCh38:
32 MCCC1 NM_020166.5(MCCC1):c.1522_1544del (p.Leu508fs) Deletion Pathogenic 841106 GRCh37: 3:182755056-182755078
GRCh38: 3:183037268-183037290
33 MCCC1 NM_020166.5(MCCC1):c.425_427delinsAC (p.Cys142fs) Indel Pathogenic 970715 GRCh37: 3:182790218-182790220
GRCh38: 3:183072430-183072432
34 MCCC1 NC_000003.12:g.(?_183092389)_(183092565_?)del Deletion Pathogenic 832920 GRCh37: 3:182810177-182810353
GRCh38:
35 MCCC1 NM_020166.5(MCCC1):c.1864del (p.Ser622fs) Deletion Pathogenic 940880 GRCh37: 3:182740210-182740210
GRCh38: 3:183022422-183022422
36 MCCC1 NM_020166.5(MCCC1):c.227_228del (p.Val76fs) Microsatellite Pathogenic 944382 GRCh37: 3:182810242-182810243
GRCh38: 3:183092454-183092455
37 MCCC1 NM_020166.5(MCCC1):c.387C>A (p.Cys129Ter) SNV Pathogenic 949042 GRCh37: 3:182790258-182790258
GRCh38: 3:183072470-183072470
38 MCCC1 NM_020166.5(MCCC1):c.1722T>G (p.Tyr574Ter) SNV Pathogenic 951878 GRCh37: 3:182743552-182743552
GRCh38: 3:183025764-183025764
39 MCCC1 NM_020166.5(MCCC1):c.1937del (p.Gln646fs) Deletion Pathogenic 954105 GRCh37: 3:182737958-182737958
GRCh38: 3:183020170-183020170
40 MCCC1 NM_020166.5(MCCC1):c.1905del (p.Lys635fs) Deletion Pathogenic 167267 rs727504001 GRCh37: 3:182737990-182737990
GRCh38: 3:183020202-183020202
41 MCCC1 NM_020166.5(MCCC1):c.682_685del (p.Leu228fs) Deletion Pathogenic 965489 GRCh37: 3:182788863-182788866
GRCh38: 3:183071075-183071078
42 MCCC1 NM_020166.5(MCCC1):c.872del (p.Ala291fs) Deletion Pathogenic 969739 GRCh37: 3:182775100-182775100
GRCh38: 3:183057312-183057312
43 MCCC1 NM_020166.5(MCCC1):c.1155A>C (p.Arg385Ser) SNV Pathogenic 1930 rs119103213 GRCh37: 3:182759467-182759467
GRCh38: 3:183041679-183041679
44 MCCC1 NM_020166.5(MCCC1):c.974T>G (p.Met325Arg) SNV Pathogenic/Likely pathogenic 1929 rs119103212 GRCh37: 3:182763310-182763310
GRCh38: 3:183045522-183045522
45 MCCC1 NM_020166.5(MCCC1):c.1315G>A (p.Val439Met) SNV Likely pathogenic 95940 rs398124352 GRCh37: 3:182756876-182756876
GRCh38: 3:183039088-183039088
46 MCCC1 NC_000003.12:g.(?_183092399)_(183094615_?)dup Duplication Likely pathogenic 832544 GRCh37: 3:182810187-182812403
GRCh38:
47 MCCC1 NM_020166.5(MCCC1):c.196C>T (p.Arg66Cys) SNV Likely pathogenic 542949 rs754460336 GRCh37: 3:182810274-182810274
GRCh38: 3:183092486-183092486
48 MCCC1 NM_020166.5(MCCC1):c.90-1G>C SNV Likely pathogenic 857683 GRCh37: 3:182812394-182812394
GRCh38: 3:183094606-183094606
49 MCCC1 NM_020166.5(MCCC1):c.1732-1G>T SNV Likely pathogenic 858761 GRCh37: 3:182740343-182740343
GRCh38: 3:183022555-183022555
50 MCCC1 NM_020166.5(MCCC1):c.1483C>T (p.Gln495Ter) SNV Likely pathogenic 873469 GRCh37: 3:182755117-182755117
GRCh38: 3:183037329-183037329

UniProtKB/Swiss-Prot genetic disease variations for 3-Methylcrotonyl-Coa Carboxylase 1 Deficiency:

72 (show all 33)
# Symbol AA change Variation ID SNP ID
1 MCCC1 p.Ala289Val VAR_012785 rs132611407
2 MCCC1 p.Met325Arg VAR_012786 rs119103212
3 MCCC1 p.Arg385Ser VAR_012787 rs119103213
4 MCCC1 p.Leu437Pro VAR_012788 rs119103215
5 MCCC1 p.Asp532His VAR_012790 rs119103214
6 MCCC1 p.Ser535Phe VAR_012791 rs119103216
7 MCCC1 p.Cys276Arg VAR_067197 rs773433541
8 MCCC1 p.Arg281Gln VAR_067198 rs754437245
9 MCCC1 p.Gly46Glu VAR_072486 rs199517715
10 MCCC1 p.Asn56Lys VAR_072487 rs105752069
11 MCCC1 p.Met65Leu VAR_072488
12 MCCC1 p.Gln123His VAR_072489
13 MCCC1 p.Ile125Met VAR_072490
14 MCCC1 p.Glu134Lys VAR_072491 rs122906916
15 MCCC1 p.Met160Arg VAR_072492
16 MCCC1 p.Gly180Val VAR_072493 rs748201122
17 MCCC1 p.Ser187Pro VAR_072494 rs757362635
18 MCCC1 p.Arg232Trp VAR_072495 rs727504004
19 MCCC1 p.Ala268Asp VAR_072496
20 MCCC1 p.Glu288Gly VAR_072497 rs746500530
21 MCCC1 p.Ala291Val VAR_072498 rs201041864
22 MCCC1 p.Gln372Pro VAR_072499 rs755328329
23 MCCC1 p.Gly379Asp VAR_072500
24 MCCC1 p.Gly379Ser VAR_072501 rs887877405
25 MCCC1 p.His380Pro VAR_072502 rs794727036
26 MCCC1 p.Ile434Met VAR_072503 rs376289130
27 MCCC1 p.Val439Met VAR_072504 rs398124352
28 MCCC1 p.Ile460Met VAR_072505 rs119103218
29 MCCC1 p.Tyr79Cys VAR_077284
30 MCCC1 p.Ser120Phe VAR_077285 rs130758969
31 MCCC1 p.Gly130Ser VAR_077286 rs202197951
32 MCCC1 p.Gly209Val VAR_077287 rs186209189
33 MCCC1 p.Arg444His VAR_077290 rs768785753

Expression for 3-Methylcrotonyl-Coa Carboxylase 1 Deficiency

Search GEO for disease gene expression data for 3-Methylcrotonyl-Coa Carboxylase 1 Deficiency.

Pathways for 3-Methylcrotonyl-Coa Carboxylase 1 Deficiency

Pathways related to 3-Methylcrotonyl-Coa Carboxylase 1 Deficiency according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.89 TRMT61B MRM3 MRM2 MRM1
2
Show member pathways
11.94 MRM3 MRM2 MRM1
3
Show member pathways
10 MRM3 MRM2 MRM1

GO Terms for 3-Methylcrotonyl-Coa Carboxylase 1 Deficiency

Cellular components related to 3-Methylcrotonyl-Coa Carboxylase 1 Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mitochondrion GO:0005739 9.43 TRMT61B RPUSD4 MRM3 MRM2 MRM1 MCCC1
2 mitochondrial matrix GO:0005759 9.1 TRMT61B RPUSD4 MRM3 MRM2 MRM1 MCCC1

Biological processes related to 3-Methylcrotonyl-Coa Carboxylase 1 Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 tRNA processing GO:0008033 9.37 TRMT61B RPUSD4
2 rRNA processing GO:0006364 9.33 MRM3 MRM2 MRM1
3 RNA methylation GO:0001510 9.32 MRM2 MRM1
4 rRNA methylation GO:0031167 9.26 TRMT61B MRM2
5 methylation GO:0032259 9.26 TRMT61B MRM3 MRM2 MRM1
6 rRNA 2'-O-methylation GO:0000451 8.8 MRM3 MRM2 MRM1

Molecular functions related to 3-Methylcrotonyl-Coa Carboxylase 1 Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transferase activity GO:0016740 9.56 TRMT61B MRM3 MRM2 MRM1
2 methyltransferase activity GO:0008168 9.26 TRMT61B MRM3 MRM2 MRM1
3 rRNA (guanosine-2'-O-)-methyltransferase activity GO:0070039 9.16 MRM3 MRM1
4 RNA methyltransferase activity GO:0008173 8.8 MRM3 MRM2 MRM1

Sources for 3-Methylcrotonyl-Coa Carboxylase 1 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
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