MCC2D
MCID: 3MT008
MIFTS: 30

3-Methylcrotonyl-Coa Carboxylase 2 Deficiency (MCC2D)

Categories: Genetic diseases, Metabolic diseases, Muscle diseases

Aliases & Classifications for 3-Methylcrotonyl-Coa Carboxylase 2 Deficiency

MalaCards integrated aliases for 3-Methylcrotonyl-Coa Carboxylase 2 Deficiency:

Name: 3-Methylcrotonyl-Coa Carboxylase 2 Deficiency 57 12 13
3-Methylcrotonyl Coa Carboxylase 2 Deficiency 29 6 39 70
Mcc2 Deficiency 57 72
Mcc2d 57 72
3-Methylcrotonoyl-Coa Carboxylase 2 Deficiency 72
3-Methylcrotonylglycinuria Type Ii 72
Methylcrotonylglycinuria, Type Ii 57
Methylcrotonylglycinuria Type Ii 72
3-Methylcrotonylglycinuria Ii 57
Mcgii 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
detected in 1/50,000 in neonatal screening programs
genetic heterogeneity (see mcc1 deficiency )


HPO:

31
3-methylcrotonyl-coa carboxylase 2 deficiency:
Inheritance autosomal recessive inheritance heterogeneous


Classifications:



Summaries for 3-Methylcrotonyl-Coa Carboxylase 2 Deficiency

UniProtKB/Swiss-Prot : 72 3-methylcrotonoyl-CoA carboxylase 2 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 2 Deficiency, is also known as 3-methylcrotonyl coa carboxylase 2 deficiency, and has symptoms including seizures, vomiting and lethargy. An important gene associated with 3-Methylcrotonyl-Coa Carboxylase 2 Deficiency is MCCC2 (Methylcrotonyl-CoA Carboxylase Subunit 2). Affiliated tissues include skeletal muscle and breast, and 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 beta subunit of 3-methylcrotonyl-CoA carboxylase on chromosome 5q13.

More information from OMIM: 210210 PS210200

Related Diseases for 3-Methylcrotonyl-Coa Carboxylase 2 Deficiency

Symptoms & Phenotypes for 3-Methylcrotonyl-Coa Carboxylase 2 Deficiency

Human phenotypes related to 3-Methylcrotonyl-Coa Carboxylase 2 Deficiency:

31 (show all 24)
# 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 vomiting 31 HP:0002013
6 hypoglycemia 31 HP:0001943
7 skeletal muscle atrophy 31 HP:0003202
8 alopecia 31 HP:0001596
9 seborrheic dermatitis 31 HP:0001051
10 lethargy 31 HP:0001254
11 feeding difficulties 31 HP:0011968
12 metabolic acidosis 31 HP:0001942
13 organic aciduria 31 HP:0001992
14 psychomotor retardation 31 HP:0025356
15 coma 31 HP:0001259
16 generalized hypotonia 31 HP:0001290
17 ketonuria 31 HP:0002919
18 ketoacidosis 31 HP:0001993
19 propionyl-coa carboxylase deficiency 31 HP:0003353
20 opisthotonus 31 HP:0002179
21 acute hyperammonemia 31 HP:0008281
22 hyperglycinuria 31 HP:0003108
23 seizure 31 HP:0001250
24 hypotonia 31 HP:0001252

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®:

210210 (Updated 20-May-2021)

UMLS symptoms related to 3-Methylcrotonyl-Coa Carboxylase 2 Deficiency:


seizures; vomiting; lethargy; opisthotonus

Drugs & Therapeutics for 3-Methylcrotonyl-Coa Carboxylase 2 Deficiency

Search Clinical Trials , NIH Clinical Center for 3-Methylcrotonyl-Coa Carboxylase 2 Deficiency

Genetic Tests for 3-Methylcrotonyl-Coa Carboxylase 2 Deficiency

Genetic tests related to 3-Methylcrotonyl-Coa Carboxylase 2 Deficiency:

# Genetic test Affiliating Genes
1 3-Methylcrotonyl Coa Carboxylase 2 Deficiency 29 MCCC2

Anatomical Context for 3-Methylcrotonyl-Coa Carboxylase 2 Deficiency

MalaCards organs/tissues related to 3-Methylcrotonyl-Coa Carboxylase 2 Deficiency:

40
Skeletal Muscle, Breast

Publications for 3-Methylcrotonyl-Coa Carboxylase 2 Deficiency

Articles related to 3-Methylcrotonyl-Coa Carboxylase 2 Deficiency:

(show all 27)
# 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. 57 6
17968484 2007
3
Consanguineous 3-methylcrotonyl-CoA carboxylase deficiency: early-onset necrotizing encephalopathy with lethal outcome. 57 6
15877210 2005
4
The molecular basis of 3-methylcrotonylglycinuria, a disorder of leucine catabolism. 57 6
11170888 2001
5
The molecular basis of human 3-methylcrotonyl-CoA carboxylase deficiency. 6 57
11181649 2001
6
3-Methylcrotonyl-coenzyme A carboxylase deficiency in Amish/Mennonite adults identified by detection of increased acylcarnitines in blood spots of their children. 6 57
9544913 1998
7
Isolated (biotin-resistant) 3-methylcrotonyl-CoA carboxylase deficiency: four sibs devoid of pathology. 57 6
8598650 1995
8
Isolated biotin-resistant deficiency of 3-methylcrotonyl-CoA carboxylase presenting as a clinically severe form in a newborn with fatal outcome. 6 57
1293382 1992
9
Isolated biotin-resistant 3-methylcrotonyl-CoA carboxylase deficiency in two sibs. 6 57
7128647 1982
10
3-Methylcrotonyl-CoA carboxylase deficiency: Mutational spectrum derived from comprehensive newborn screening. 6
27601257 2016
11
Maternal 3-methylcrotonyl-coenzyme A carboxylase deficiency with elevated 3-hydroxyisovalerylcarnitine in breast milk. 6
28018443 2016
12
Outcomes of cases with 3-methylcrotonyl-CoA carboxylase (3-MCC) deficiency - Report from the Inborn Errors of Metabolism Information System. 6
27033733 2016
13
Primary and maternal 3-methylcrotonyl-CoA carboxylase deficiency: insights from the Israel newborn screening program. 6
26566957 2016
14
Identification of eight novel mutations and transcript analysis of two splicing mutations in Chinese newborns with MCC deficiency. 6
25382614 2015
15
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
16
3-methylcrotonyl-CoA carboxylase deficiency: clinical, biochemical, enzymatic and molecular studies in 88 individuals. 6
22642865 2012
17
A single mutation in MCCC1 or MCCC2 as a potential cause of positive screening for 3-methylcrotonyl-CoA carboxylase deficiency. 6
22264772 2012
18
Uneventful clinical courses of Korean patients with methylcrotonylglycinuria and their common mutations. 6
22030835 2012
19
Mutational spectrum in eight Korean patients with 3-methylcrotonyl-CoA carboxylase deficiency. 6
22150417 2012
20
Novel mutations in the human MCCA and MCCB gene causing methylcrotonylglycinuria. 6
21071250 2011
21
Potential misdiagnosis of 3-methylcrotonyl-coenzyme A carboxylase deficiency associated with absent or trace urinary 3-methylcrotonylglycine. 6
17908719 2007
22
Newborn screening for 3-methylcrotonyl-CoA carboxylase deficiency: population heterogeneity of MCCA and MCCB mutations and impact on risk assessment. 6
16835865 2006
23
3-Methylcrotonyl-CoA carboxylase deficiency: mutation analysis in 28 probands, 9 symptomatic and 19 detected by newborn screening. 6
16010683 2005
24
Functional analysis of MCCA and MCCB mutations causing methylcrotonylglycinuria. 6
14680978 2003
25
Cloning of the human MCCA and MCCB genes and mutations therein reveal the molecular cause of 3-methylcrotonyl-CoA: carboxylase deficiency. 6
11406611 2001
26
Isolated biotin-resistant 3-methylcrotonyl-CoA carboxylase deficiency: long-term outcome in a case with neonatal onset. 57
8831079 1996
27
Hepatitis C virus infection of peripheral nerves in type II cryoglobulinaemia. 61
10394889 1999

Variations for 3-Methylcrotonyl-Coa Carboxylase 2 Deficiency

ClinVar genetic disease variations for 3-Methylcrotonyl-Coa Carboxylase 2 Deficiency:

6 (show top 50) (show all 186)
# 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.581del (p.Thr194fs) Deletion Pathogenic 649288 rs1190325113 GRCh37: 5:70900252-70900252
GRCh38: 5:71604425-71604425
11 MCCC2 NM_022132.5(MCCC2):c.891_892del (p.Lys298fs) Deletion Pathogenic 641165 rs1580319814 GRCh37: 5:70930856-70930857
GRCh38: 5:71635029-71635030
12 MCCC2 NM_022132.5(MCCC2):c.562C>T (p.Arg188Ter) SNV Pathogenic 841748 GRCh37: 5:70900233-70900233
GRCh38: 5:71604406-71604406
13 MCCC2 NC_000005.10:g.(?_71587406)_(71656880_?)del Deletion Pathogenic 832868 GRCh37: 5:70883233-70952707
GRCh38:
14 MCCC2 NC_000005.10:g.71632121del Deletion Pathogenic 934991 GRCh37: 5:70927947-70927947
GRCh38: 5:71632120-71632120
15 MCCC2 NM_022132.5(MCCC2):c.512-1G>A SNV Pathogenic 938097 GRCh37: 5:70900182-70900182
GRCh38: 5:71604355-71604355
16 MCCC2 NM_022132.5(MCCC2):c.1103del (p.Gly368fs) Deletion Pathogenic 940476 GRCh37: 5:70939675-70939675
GRCh38: 5:71643848-71643848
17 MCCC2 NM_022132.5(MCCC2):c.175C>T (p.Arg59Ter) SNV Pathogenic 948935 rs760881963 GRCh37: 5:70888798-70888798
GRCh38: 5:71592971-71592971
18 MCCC2 NM_022132.5(MCCC2):c.181G>T (p.Glu61Ter) SNV Pathogenic 963404 GRCh37: 5:70888804-70888804
GRCh38: 5:71592977-71592977
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.214C>T (p.Arg72Ter) SNV Pathogenic 286933 rs147903984 GRCh37: 5:70892124-70892124
GRCh38: 5:71596297-71596297
22 MCCC2 NM_022132.5(MCCC2):c.1064T>A (p.Leu355Ter) SNV Pathogenic 958438 GRCh37: 5:70936894-70936894
GRCh38: 5:71641067-71641067
23 MCCC2 NM_022132.5(MCCC2):c.557del (p.Pro186fs) Deletion Pathogenic 941833 GRCh37: 5:70900227-70900227
GRCh38: 5:71604400-71604400
24 MCCC2 NM_022132.5(MCCC2):c.1065A>T (p.Leu355Phe) SNV Pathogenic 203806 rs757052602 GRCh37: 5:70936895-70936895
GRCh38: 5:71641068-71641068
25 MCCC2 NM_022132.5(MCCC2):c.1441G>A (p.Val481Met) SNV Pathogenic 194556 rs767575019 GRCh37: 5:70945963-70945963
GRCh38: 5:71650136-71650136
26 MCCC2 NM_022132.5(MCCC2):c.538C>T (p.Arg180Ter) SNV Pathogenic 488740 rs780011606 GRCh37: 5:70900209-70900209
GRCh38: 5:71604382-71604382
27 MCCC2 NM_022132.5(MCCC2):c.295G>C (p.Glu99Gln) SNV Pathogenic 1920 rs119103219 GRCh37: 5:70895499-70895499
GRCh38: 5:71599672-71599672
28 MCCC2 NM_022132.5(MCCC2):c.1015G>A (p.Val339Met) SNV Pathogenic/Likely pathogenic 203805 rs150591260 GRCh37: 5:70936845-70936845
GRCh38: 5:71641018-71641018
29 MCCC2 NM_022132.5(MCCC2):c.463C>T (p.Arg155Trp) SNV Pathogenic/Likely pathogenic 566363 rs141030969 GRCh37: 5:70898412-70898412
GRCh38: 5:71602585-71602585
30 MCCC2 NM_022132.5(MCCC2):c.1216+2T>C SNV Likely pathogenic 535829 rs1554138265 GRCh37: 5:70942106-70942106
GRCh38: 5:71646279-71646279
31 MCCC2 NM_022132.5(MCCC2):c.281+1G>T SNV Likely pathogenic 641697 rs1580273474 GRCh37: 5:70892192-70892192
GRCh38: 5:71596365-71596365
32 MCCC2 NM_022132.5(MCCC2):c.838G>T (p.Asp280Tyr) SNV Likely pathogenic 1927 rs119103226 GRCh37: 5:70930804-70930804
GRCh38: 5:71634977-71634977
33 MCCC2 NM_022132.5(MCCC2):c.1574+1G>A SNV Likely pathogenic 1928 rs730880265 GRCh37: 5:70948582-70948582
GRCh38: 5:71652755-71652755
34 MCCC2 NC_000005.10:g.(?_71599649)_(71599770_?)del Deletion Likely pathogenic 832976 GRCh37: 5:70895476-70895597
GRCh38:
35 MCCC2 NM_022132.5(MCCC2):c.577C>T (p.Arg193Cys) SNV Conflicting interpretations of pathogenicity 203804 rs547662164 GRCh37: 5:70900248-70900248
GRCh38: 5:71604421-71604421
36 MCCC2 NM_022132.5(MCCC2):c.568C>T (p.His190Tyr) SNV Conflicting interpretations of pathogenicity 198252 rs773774134 GRCh37: 5:70900239-70900239
GRCh38: 5:71604412-71604412
37 MCCC2 NM_022132.5(MCCC2):c.499T>C (p.Cys167Arg) SNV Conflicting interpretations of pathogenicity 1923 rs119103222 GRCh37: 5:70898448-70898448
GRCh38: 5:71602621-71602621
38 MCCC2 NM_022132.5(MCCC2):c.1423G>A (p.Gly475Arg) SNV Conflicting interpretations of pathogenicity 467803 rs148773718 GRCh37: 5:70945945-70945945
GRCh38: 5:71650118-71650118
39 MCCC2 NM_022132.5(MCCC2):c.330C>T (p.Asp110=) SNV Conflicting interpretations of pathogenicity 389179 rs201872484 GRCh37: 5:70895534-70895534
GRCh38: 5:71599707-71599707
40 MCCC2 NM_022132.5(MCCC2):c.1217-7C>G SNV Conflicting interpretations of pathogenicity 507552 rs148369119 GRCh37: 5:70944917-70944917
GRCh38: 5:71649090-71649090
41 MCCC2 NM_022132.5(MCCC2):c.599T>A (p.Ile200Asn) SNV Conflicting interpretations of pathogenicity 167278 rs140806722 GRCh37: 5:70900270-70900270
GRCh38: 5:71604443-71604443
42 MCCC2 NM_022132.5(MCCC2):c.478G>A (p.Ala160Thr) SNV Uncertain significance 167277 rs727504009 GRCh37: 5:70898427-70898427
GRCh38: 5:71602600-71602600
43 MCCC2 NM_022132.5(MCCC2):c.1657A>G (p.Ile553Val) SNV Uncertain significance 354104 rs143156315 GRCh37: 5:70952652-70952652
GRCh38: 5:71656825-71656825
44 MCCC2 NM_022132.5(MCCC2):c.914A>G (p.Glu305Gly) SNV Uncertain significance 906077 GRCh37: 5:70930988-70930988
GRCh38: 5:71635161-71635161
45 MCCC2 NM_022132.5(MCCC2):c.1545G>C (p.Glu515Asp) SNV Uncertain significance 957841 GRCh37: 5:70948552-70948552
GRCh38: 5:71652725-71652725
46 MCCC2 NM_022132.5(MCCC2):c.1488G>C (p.Gln496His) SNV Uncertain significance 1055857 GRCh37: 5:70946010-70946010
GRCh38: 5:71650183-71650183
47 MCCC2 NM_022132.5(MCCC2):c.851T>C (p.Leu284Pro) SNV Uncertain significance 1061496 GRCh37: 5:70930817-70930817
GRCh38: 5:71634990-71634990
48 MCCC2 NM_022132.5(MCCC2):c.1124T>C (p.Val375Ala) SNV Uncertain significance 849653 GRCh37: 5:70939697-70939697
GRCh38: 5:71643870-71643870
49 MCCC2 NM_022132.5(MCCC2):c.815T>G (p.Val272Gly) SNV Uncertain significance 499398 rs1199145486 GRCh37: 5:70930781-70930781
GRCh38: 5:71634954-71634954
50 MCCC2 NM_022132.5(MCCC2):c.125A>G (p.Tyr42Cys) SNV Uncertain significance 641167 rs1580262373 GRCh37: 5:70883377-70883377
GRCh38: 5:71587550-71587550

UniProtKB/Swiss-Prot genetic disease variations for 3-Methylcrotonyl-Coa Carboxylase 2 Deficiency:

72 (show top 50) (show all 52)
# Symbol AA change Variation ID SNP ID
1 MCCC2 p.Glu99Gln VAR_012792 rs119103219
2 MCCC2 p.Arg155Gln VAR_012793 rs119103220
3 MCCC2 p.Cys167Arg VAR_012794 rs119103222
4 MCCC2 p.Ser173Leu VAR_012795 rs752866557
5 MCCC2 p.Arg193Cys VAR_012796 rs547662164
6 MCCC2 p.Ala218Thr VAR_012797 rs886043524
7 MCCC2 p.Arg268Thr VAR_012798 rs119103223
8 MCCC2 p.Pro310Arg VAR_012799 rs119103221
9 MCCC2 p.Val339Met VAR_012800 rs150591260
10 MCCC2 p.Ile437Val VAR_012801 rs119103224
11 MCCC2 p.Asp280Tyr VAR_067199 rs119103226
12 MCCC2 p.Pro459Ser VAR_067200 rs754741111
13 MCCC2 p.Ser39Phe VAR_072507 rs398124371
14 MCCC2 p.Ser101Phe VAR_072508 rs748028684
15 MCCC2 p.Cys131Phe VAR_072510
16 MCCC2 p.Tyr146Asn VAR_072511
17 MCCC2 p.Lys152Thr VAR_072512 rs155413406
18 MCCC2 p.Arg155Trp VAR_072513 rs141030969
19 MCCC2 p.Tyr169Asp VAR_072514
20 MCCC2 p.His190Arg VAR_072515 rs119103225
21 MCCC2 p.His190Tyr VAR_072516 rs773774134
22 MCCC2 p.Arg193His VAR_072517 rs535519604
23 MCCC2 p.Ala218Val VAR_072519 rs760420191
24 MCCC2 p.Gly220Glu VAR_072520 rs125475016
25 MCCC2 p.Pro224Leu VAR_072521 rs119560146
26 MCCC2 p.Gly237Asp VAR_072522
27 MCCC2 p.His266Leu VAR_072523
28 MCCC2 p.His282Arg VAR_072525
29 MCCC2 p.Asp340Val VAR_072526 rs398124370
30 MCCC2 p.Gly352Arg VAR_072527 rs765438239
31 MCCC2 p.Leu355Phe VAR_072528 rs757052602
32 MCCC2 p.Val375Phe VAR_072529
33 MCCC2 p.Asn403Thr VAR_072530 rs142887940
34 MCCC2 p.Val434Leu VAR_072531 rs758506791
35 MCCC2 p.Ala456Val VAR_072532 rs727504011
36 MCCC2 p.Gly475Arg VAR_072533 rs148773718
37 MCCC2 p.Gln477Arg VAR_072534 rs769558016
38 MCCC2 p.Gly517Arg VAR_072535 rs979584886
39 MCCC2 p.Tyr520Ser VAR_072536 rs150327768
40 MCCC2 p.Ser523Gly VAR_072537 rs145914305
41 MCCC2 p.Lys555Glu VAR_072538 rs125784967
42 MCCC2 p.Thr139Ile VAR_077293
43 MCCC2 p.Gly214Ala VAR_077295 rs277995
44 MCCC2 p.Cys216Trp VAR_077296
45 MCCC2 p.Asn230Asp VAR_077297 rs766753795
46 MCCC2 p.Tyr318Cys VAR_077298 rs773115035
47 MCCC2 p.Gly319Arg VAR_077299 rs144355170
48 MCCC2 p.Gln393Pro VAR_077301 rs750782118
49 MCCC2 p.Gly410Asp VAR_077302 rs771440617
50 MCCC2 p.Gly410Arg VAR_077303

Expression for 3-Methylcrotonyl-Coa Carboxylase 2 Deficiency

Search GEO for disease gene expression data for 3-Methylcrotonyl-Coa Carboxylase 2 Deficiency.

Pathways for 3-Methylcrotonyl-Coa Carboxylase 2 Deficiency

GO Terms for 3-Methylcrotonyl-Coa Carboxylase 2 Deficiency

Sources for 3-Methylcrotonyl-Coa Carboxylase 2 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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