MCC2D
MCID: 3MT008
MIFTS: 26

3-Methylcrotonyl-Coa Carboxylase 2 Deficiency (MCC2D)

Categories: Genetic 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 13
3-Methylcrotonyl Coa Carboxylase 2 Deficiency 29 6 40 73
Mcc2 Deficiency 57 75
Mcc2d 57 75
3-Methylcrotonoyl-Coa Carboxylase 2 Deficiency 75
3-Methylcrotonylglycinuria Type Ii 75
3-Methylcrotonyl-Coa Carboxylase 2 13
Methylcrotonylglycinuria, Type Ii 57
Methylcrotonylglycinuria Type Ii 75
3-Methylcrotonylglycinuria Ii 57
Mcgii 75

Characteristics:

OMIM:

57
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:

32
3-methylcrotonyl-coa carboxylase 2 deficiency:
Onset and clinical course phenotypic variability
Inheritance heterogeneous autosomal recessive inheritance


Classifications:



Summaries for 3-Methylcrotonyl-Coa Carboxylase 2 Deficiency

UniProtKB/Swiss-Prot : 75 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, also known as 3-methylcrotonyl coa carboxylase 2 deficiency, is related to 3 alpha 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 (Methylcrotonoyl-CoA Carboxylase 2). Affiliated tissues include skeletal muscle, and related phenotypes are intellectual disability and seizures

Description from OMIM: 210210

Related Diseases for 3-Methylcrotonyl-Coa Carboxylase 2 Deficiency

Diseases related to 3-Methylcrotonyl-Coa Carboxylase 2 Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 3 alpha methylcrotonyl-coa carboxylase 2 deficiency 11.6

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

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
seizures
hyperreflexia
coma
lethargy
opisthotonus
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

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

32 (show all 23)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 32 HP:0001249
2 seizures 32 HP:0001250
3 muscular hypotonia 32 HP:0001252
4 hyperreflexia 32 HP:0001347
5 failure to thrive 32 HP:0001508
6 global developmental delay 32 HP:0001263
7 vomiting 32 HP:0002013
8 hypoglycemia 32 HP:0001943
9 skeletal muscle atrophy 32 HP:0003202
10 feeding difficulties 32 HP:0011968
11 alopecia 32 HP:0001596
12 coma 32 HP:0001259
13 seborrheic dermatitis 32 HP:0001051
14 lethargy 32 HP:0001254
15 metabolic acidosis 32 HP:0001942
16 generalized hypotonia 32 HP:0001290
17 opisthotonus 32 HP:0002179
18 ketonuria 32 HP:0002919
19 ketoacidosis 32 HP:0001993
20 organic aciduria 32 HP:0001992
21 propionyl-coa carboxylase deficiency 32 HP:0003353
22 hyperglycinuria 32 HP:0003108
23 acute hyperammonemia 32 HP:0008281

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:

41
Skeletal Muscle

Publications for 3-Methylcrotonyl-Coa Carboxylase 2 Deficiency

Variations for 3-Methylcrotonyl-Coa Carboxylase 2 Deficiency

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

75 (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
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
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
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
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
49 MCCC2 p.Gly410Asp VAR_077302 rs771440617
50 MCCC2 p.Gly410Arg VAR_077303

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

6 (show top 50) (show all 109)
# Gene Variation Type Significance SNP ID Assembly Location
1 MCCC2 NM_022132.4(MCCC2): c.517dupT (p.Ser173Phefs) duplication Pathogenic rs587776533 GRCh38 Chromosome 5, 71604361: 71604361
2 MCCC2 NM_022132.4(MCCC2): c.517dupT (p.Ser173Phefs) duplication Pathogenic rs587776533 GRCh37 Chromosome 5, 70900188: 70900188
3 MCCC2 NM_022132.4(MCCC2): c.295G> C (p.Glu99Gln) single nucleotide variant Pathogenic rs119103219 GRCh37 Chromosome 5, 70895499: 70895499
4 MCCC2 NM_022132.4(MCCC2): c.295G> C (p.Glu99Gln) single nucleotide variant Pathogenic rs119103219 GRCh38 Chromosome 5, 71599672: 71599672
5 MCCC2 NM_022132.4(MCCC2): c.464G> A (p.Arg155Gln) single nucleotide variant Pathogenic rs119103220 GRCh37 Chromosome 5, 70898413: 70898413
6 MCCC2 NM_022132.4(MCCC2): c.464G> A (p.Arg155Gln) single nucleotide variant Pathogenic rs119103220 GRCh38 Chromosome 5, 71602586: 71602586
7 MCCC2 NM_022132.4(MCCC2): c.929C> G (p.Pro310Arg) single nucleotide variant Pathogenic rs119103221 GRCh37 Chromosome 5, 70931003: 70931003
8 MCCC2 NM_022132.4(MCCC2): c.929C> G (p.Pro310Arg) single nucleotide variant Pathogenic rs119103221 GRCh38 Chromosome 5, 71635176: 71635176
9 MCCC2 NM_022132.4(MCCC2): c.499T> C (p.Cys167Arg) single nucleotide variant Uncertain significance rs119103222 GRCh37 Chromosome 5, 70898448: 70898448
10 MCCC2 NM_022132.4(MCCC2): c.499T> C (p.Cys167Arg) single nucleotide variant Uncertain significance rs119103222 GRCh38 Chromosome 5, 71602621: 71602621
11 MCCC2 NM_022132.4(MCCC2): c.803G> C (p.Arg268Thr) single nucleotide variant Uncertain significance rs119103223 GRCh37 Chromosome 5, 70928012: 70928012
12 MCCC2 NM_022132.4(MCCC2): c.803G> C (p.Arg268Thr) single nucleotide variant Uncertain significance rs119103223 GRCh38 Chromosome 5, 71632185: 71632185
13 MCCC2 NM_022132.4(MCCC2): c.1309A> G (p.Ile437Val) single nucleotide variant Uncertain significance rs119103224 GRCh37 Chromosome 5, 70945016: 70945016
14 MCCC2 NM_022132.4(MCCC2): c.1309A> G (p.Ile437Val) single nucleotide variant Uncertain significance rs119103224 GRCh38 Chromosome 5, 71649189: 71649189
15 MCCC2 NM_022132.4(MCCC2): c.569A> G (p.His190Arg) single nucleotide variant Pathogenic rs119103225 GRCh37 Chromosome 5, 70900240: 70900240
16 MCCC2 NM_022132.4(MCCC2): c.569A> G (p.His190Arg) single nucleotide variant Pathogenic rs119103225 GRCh38 Chromosome 5, 71604413: 71604413
17 MCCC2 NM_022132.4(MCCC2): c.838G> T (p.Asp280Tyr) single nucleotide variant Pathogenic rs119103226 GRCh37 Chromosome 5, 70930804: 70930804
18 MCCC2 NM_022132.4(MCCC2): c.838G> T (p.Asp280Tyr) single nucleotide variant Pathogenic rs119103226 GRCh38 Chromosome 5, 71634977: 71634977
19 MCCC2 NM_022132.4(MCCC2): c.1574+1G> A single nucleotide variant Pathogenic rs730880265 GRCh38 Chromosome 5, 71652755: 71652755
20 MCCC2 NM_022132.4(MCCC2): c.1574+1G> A single nucleotide variant Pathogenic rs730880265 GRCh37 Chromosome 5, 70948582: 70948582
21 MCCC2 NM_022132.4(MCCC2): c.1433C> G (p.Ala478Gly) single nucleotide variant Uncertain significance rs35068278 GRCh37 Chromosome 5, 70945955: 70945955
22 MCCC2 NM_022132.4(MCCC2): c.1433C> G (p.Ala478Gly) single nucleotide variant Uncertain significance rs35068278 GRCh38 Chromosome 5, 71650128: 71650128
23 MCCC2 NM_022132.4(MCCC2): c.380C> G (p.Ser127Ter) single nucleotide variant Pathogenic rs398124372 GRCh37 Chromosome 5, 70895584: 70895584
24 MCCC2 NM_022132.4(MCCC2): c.380C> G (p.Ser127Ter) single nucleotide variant Pathogenic rs398124372 GRCh38 Chromosome 5, 71599757: 71599757
25 MCCC2 NM_022132.4(MCCC2): c.599T> A (p.Ile200Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs140806722 GRCh37 Chromosome 5, 70900270: 70900270
26 MCCC2 NM_022132.4(MCCC2): c.599T> A (p.Ile200Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs140806722 GRCh38 Chromosome 5, 71604443: 71604443
27 MCCC2 NM_022132.4(MCCC2): c.478G> A (p.Ala160Thr) single nucleotide variant Uncertain significance rs727504009 GRCh37 Chromosome 5, 70898427: 70898427
28 MCCC2 NM_022132.4(MCCC2): c.478G> A (p.Ala160Thr) single nucleotide variant Uncertain significance rs727504009 GRCh38 Chromosome 5, 71602600: 71602600
29 MCCC2 NM_022132.4(MCCC2): c.994C> T (p.Arg332Ter) single nucleotide variant Pathogenic rs727504010 GRCh37 Chromosome 5, 70931068: 70931068
30 MCCC2 NM_022132.4(MCCC2): c.994C> T (p.Arg332Ter) single nucleotide variant Pathogenic rs727504010 GRCh38 Chromosome 5, 71635241: 71635241
31 MCCC2 NM_022132.4(MCCC2): c.1081C> T (p.Arg361Ter) single nucleotide variant Pathogenic rs763293192 GRCh37 Chromosome 5, 70939654: 70939654
32 MCCC2 NM_022132.4(MCCC2): c.1081C> T (p.Arg361Ter) single nucleotide variant Pathogenic rs763293192 GRCh38 Chromosome 5, 71643827: 71643827
33 MCCC2 NM_022132.4(MCCC2): c.1441G> A (p.Val481Met) single nucleotide variant Uncertain significance rs767575019 GRCh37 Chromosome 5, 70945963: 70945963
34 MCCC2 NM_022132.4(MCCC2): c.1441G> A (p.Val481Met) single nucleotide variant Uncertain significance rs767575019 GRCh38 Chromosome 5, 71650136: 71650136
35 MCCC2 NM_022132.4(MCCC2) indel Likely pathogenic rs797044772 GRCh37 Chromosome 5, 70900228: 70900231
36 MCCC2 NM_022132.4(MCCC2) indel Likely pathogenic rs797044772 GRCh38 Chromosome 5, 71604401: 71604404
37 MCCC2 NM_022132.4(MCCC2): c.518C> G (p.Ser173Trp) single nucleotide variant Uncertain significance rs752866557 GRCh37 Chromosome 5, 70900189: 70900189
38 MCCC2 NM_022132.4(MCCC2): c.518C> G (p.Ser173Trp) single nucleotide variant Uncertain significance rs752866557 GRCh38 Chromosome 5, 71604362: 71604362
39 MCCC2 NM_022132.4(MCCC2): c.568C> T (p.His190Tyr) single nucleotide variant Conflicting interpretations of pathogenicity rs773774134 GRCh37 Chromosome 5, 70900239: 70900239
40 MCCC2 NM_022132.4(MCCC2): c.568C> T (p.His190Tyr) single nucleotide variant Conflicting interpretations of pathogenicity rs773774134 GRCh38 Chromosome 5, 71604412: 71604412
41 MCCC2 NM_022132.4(MCCC2): c.1015G> A (p.Val339Met) single nucleotide variant Conflicting interpretations of pathogenicity rs150591260 GRCh38 Chromosome 5, 71641018: 71641018
42 MCCC2 NM_022132.4(MCCC2): c.1015G> A (p.Val339Met) single nucleotide variant Conflicting interpretations of pathogenicity rs150591260 GRCh37 Chromosome 5, 70936845: 70936845
43 MCCC2 NM_022132.4(MCCC2): c.1065A> T (p.Leu355Phe) single nucleotide variant Pathogenic rs757052602 GRCh38 Chromosome 5, 71641068: 71641068
44 MCCC2 NM_022132.4(MCCC2): c.1065A> T (p.Leu355Phe) single nucleotide variant Pathogenic rs757052602 GRCh37 Chromosome 5, 70936895: 70936895
45 MCCC2 NM_022132.4(MCCC2): c.1322T> C (p.Ile441Thr) single nucleotide variant Uncertain significance rs139852818 GRCh38 Chromosome 5, 71649202: 71649202
46 MCCC2 NM_022132.4(MCCC2): c.1322T> C (p.Ile441Thr) single nucleotide variant Uncertain significance rs139852818 GRCh37 Chromosome 5, 70945029: 70945029
47 MCCC2 NM_022132.4(MCCC2): c.652G> A (p.Ala218Thr) single nucleotide variant Likely pathogenic rs886043524 GRCh37 Chromosome 5, 70922494: 70922494
48 MCCC2 NM_022132.4(MCCC2): c.652G> A (p.Ala218Thr) single nucleotide variant Likely pathogenic rs886043524 GRCh38 Chromosome 5, 71626667: 71626667
49 MCCC2 NM_022132.4(MCCC2): c.214C> T (p.Arg72Ter) single nucleotide variant Pathogenic rs147903984 GRCh37 Chromosome 5, 70892124: 70892124
50 MCCC2 NM_022132.4(MCCC2): c.214C> T (p.Arg72Ter) single nucleotide variant Pathogenic rs147903984 GRCh38 Chromosome 5, 71596297: 71596297

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

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