MCID: 3MT011
MIFTS: 24

3-Methylcrotonyl-Coa Carboxylase 1 Deficiency

Categories: Genetic diseases, Rare 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 13
3 Methylcrotonyl-Coa Carboxylase 1 Deficiency 53 29 6 40
Methylcrotonylglycinuria Type I 57 75
Mcc1 Deficiency 57 75
Mccd Type 1 57 75
Mcc1d 57 75
3-Methylcrotonoyl-Coa Carboxylase 1 Deficiency 75
3-Methylcrotonyl Coa Carboxylase 1 Deficiency 73
3 Methylcrotonyl-Coa Carboxylase Deficiency 53
3 Alpha Methylcrotonylglycinuria 1 53
3-Methylcrotonyl-Coa Carboxylase 1 13
3-Methylcrotonylglycinuria Type I 75
3-Methylcrotonylglycinuria I 57
3 Methylcrotonylglycinuria 53
Mcc 1 Deficiency 53
Mcgi 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
genetic heterogeneity (see mcc2 deficiency )
detected in 1/50,000 in neonatal screening programs


HPO:

32
3-methylcrotonyl-coa carboxylase 1 deficiency:
Onset and clinical course phenotypic variability
Inheritance heterogeneous autosomal recessive inheritance


Classifications:



Summaries for 3-Methylcrotonyl-Coa Carboxylase 1 Deficiency

UniProtKB/Swiss-Prot : 75 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 has symptoms including lethargy, seizures and vomiting. An important gene associated with 3-Methylcrotonyl-Coa Carboxylase 1 Deficiency is MCCC1 (Methylcrotonoyl-CoA Carboxylase 1). Related phenotypes are intellectual disability and seizures

Description from OMIM: 210200

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 11.4

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

210200

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

32 (show all 17)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 32 HP:0001249
2 seizures 32 HP:0001250
3 muscular hypotonia 32 HP:0001252
4 lethargy 32 HP:0001254
5 coma 32 HP:0001259
6 global developmental delay 32 HP:0001263
7 generalized hypotonia 32 HP:0001290
8 hyperreflexia 32 HP:0001347
9 failure to thrive 32 HP:0001508
10 hypoglycemia 32 HP:0001943
11 vomiting 32 HP:0002013
12 opisthotonus 32 HP:0002179
13 ketonuria 32 HP:0002919
14 episodic metabolic acidosis 32 HP:0004911
15 acute hepatic steatosis 32 HP:0006573
16 acute hyperammonemia 32 HP:0008281
17 feeding difficulties in infancy 32 HP:0008872

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


lethargy, seizures, vomiting, 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

Variations for 3-Methylcrotonyl-Coa Carboxylase 1 Deficiency

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

75 (show all 33)
# Symbol AA change Variation ID SNP ID
1 MCCC1 p.Ala289Val VAR_012785
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
11 MCCC1 p.Met65Leu VAR_072488
12 MCCC1 p.Gln123His VAR_072489
13 MCCC1 p.Ile125Met VAR_072490
14 MCCC1 p.Glu134Lys VAR_072491
15 MCCC1 p.Met160Arg VAR_072492
16 MCCC1 p.Gly180Val VAR_072493
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
31 MCCC1 p.Gly130Ser VAR_077286 rs202197951
32 MCCC1 p.Gly209Val VAR_077287 rs186209189
33 MCCC1 p.Arg444His VAR_077290 rs768785753

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

6
(show top 50) (show all 100)
# Gene Variation Type Significance SNP ID Assembly Location
1 MCCC1 NM_020166.4(MCCC1): c.974T> G (p.Met325Arg) single nucleotide variant Pathogenic/Likely pathogenic rs119103212 GRCh37 Chromosome 3, 182763310: 182763310
2 MCCC1 NM_020166.4(MCCC1): c.974T> G (p.Met325Arg) single nucleotide variant Pathogenic/Likely pathogenic rs119103212 GRCh38 Chromosome 3, 183045522: 183045522
3 MCCC1 NM_020166.4(MCCC1): c.1155A> C (p.Arg385Ser) single nucleotide variant Pathogenic rs119103213 GRCh37 Chromosome 3, 182759467: 182759467
4 MCCC1 NM_020166.4(MCCC1): c.1155A> C (p.Arg385Ser) single nucleotide variant Pathogenic rs119103213 GRCh38 Chromosome 3, 183041679: 183041679
5 MCCC1 NM_020166.4(MCCC1): c.1594G> C (p.Asp532His) single nucleotide variant Pathogenic rs119103214 GRCh37 Chromosome 3, 182755006: 182755006
6 MCCC1 NM_020166.4(MCCC1): c.1594G> C (p.Asp532His) single nucleotide variant Pathogenic rs119103214 GRCh38 Chromosome 3, 183037218: 183037218
7 MCCC1 NM_020166.4(MCCC1): c.1310T> C (p.Leu437Pro) single nucleotide variant Pathogenic rs119103215 GRCh37 Chromosome 3, 182756881: 182756881
8 MCCC1 NM_020166.4(MCCC1): c.1310T> C (p.Leu437Pro) single nucleotide variant Pathogenic rs119103215 GRCh38 Chromosome 3, 183039093: 183039093
9 MCCC1 NM_020166.4(MCCC1): c.1604C> T (p.Ser535Phe) single nucleotide variant Pathogenic rs119103216 GRCh37 Chromosome 3, 182751856: 182751856
10 MCCC1 NM_020166.4(MCCC1): c.1604C> T (p.Ser535Phe) single nucleotide variant Pathogenic rs119103216 GRCh38 Chromosome 3, 183034068: 183034068
11 MCCC1 NM_020166.4(MCCC1): c.2079delA (p.Val694Terfs) deletion Pathogenic rs119103217 GRCh37 Chromosome 3, 182733325: 182733325
12 MCCC1 NM_020166.4(MCCC1): c.2079delA (p.Val694Terfs) deletion Pathogenic rs119103217 GRCh38 Chromosome 3, 183015537: 183015537
13 MCCC1 NM_020166.4(MCCC1): c.1380T> G (p.Ile460Met) single nucleotide variant Pathogenic rs119103218 GRCh37 Chromosome 3, 182755220: 182755220
14 MCCC1 NM_020166.4(MCCC1): c.1380T> G (p.Ile460Met) single nucleotide variant Pathogenic rs119103218 GRCh38 Chromosome 3, 183037432: 183037432
15 MCCC1 NM_020166.4(MCCC1): c.1074delG (p.Trp358Cysfs) deletion Pathogenic rs398124350 GRCh37 Chromosome 3, 182763210: 182763210
16 MCCC1 NM_020166.4(MCCC1): c.1074delG (p.Trp358Cysfs) deletion Pathogenic rs398124350 GRCh38 Chromosome 3, 183045422: 183045422
17 MCCC1 NM_020166.4(MCCC1): c.1277T> C (p.Val426Ala) single nucleotide variant Likely pathogenic rs398124351 GRCh37 Chromosome 3, 182756914: 182756914
18 MCCC1 NM_020166.4(MCCC1): c.1277T> C (p.Val426Ala) single nucleotide variant Likely pathogenic rs398124351 GRCh38 Chromosome 3, 183039126: 183039126
19 MCCC1 NM_020166.4(MCCC1): c.1526delG (p.Cys509Serfs) deletion Pathogenic rs727504002 GRCh38 Chromosome 3, 183037286: 183037286
20 MCCC1 NM_020166.4(MCCC1): c.1905delA (p.Lys635Asnfs) deletion Pathogenic rs727504001 GRCh37 Chromosome 3, 182737990: 182737990
21 MCCC1 NM_020166.4(MCCC1): c.1905delA (p.Lys635Asnfs) deletion Pathogenic rs727504001 GRCh38 Chromosome 3, 183020202: 183020202
22 MCCC1 NM_020166.4(MCCC1): c.1614G> A (p.Ser538=) single nucleotide variant Conflicting interpretations of pathogenicity rs34749281 GRCh37 Chromosome 3, 182751846: 182751846
23 MCCC1 NM_020166.4(MCCC1): c.1614G> A (p.Ser538=) single nucleotide variant Conflicting interpretations of pathogenicity rs34749281 GRCh38 Chromosome 3, 183034058: 183034058
24 MCCC1 NM_020166.4(MCCC1): c.1526delG (p.Cys509Serfs) deletion Pathogenic rs727504002 GRCh37 Chromosome 3, 182755074: 182755074
25 MCCC1 NM_020166.4(MCCC1): c.873G> A (p.Ala291=) single nucleotide variant Uncertain significance rs138794621 GRCh37 Chromosome 3, 182775099: 182775099
26 MCCC1 NM_020166.4(MCCC1): c.873G> A (p.Ala291=) single nucleotide variant Uncertain significance rs138794621 GRCh38 Chromosome 3, 183057311: 183057311
27 MCCC1 NM_020166.4(MCCC1): c.640-1G> A single nucleotide variant Pathogenic rs727504005 GRCh37 Chromosome 3, 182788909: 182788909
28 MCCC1 NM_020166.4(MCCC1): c.640-1G> A single nucleotide variant Pathogenic rs727504005 GRCh38 Chromosome 3, 183071121: 183071121
29 MCCC1 NM_020166.4(MCCC1): c.137-2A> G single nucleotide variant Pathogenic rs727504006 GRCh37 Chromosome 3, 182810335: 182810335
30 MCCC1 NM_020166.4(MCCC1): c.137-2A> G single nucleotide variant Pathogenic rs727504006 GRCh38 Chromosome 3, 183092547: 183092547
31 MCCC1 NM_020166.4(MCCC1): c.1114C> T (p.Gln372Ter) single nucleotide variant Pathogenic rs544349961 GRCh37 Chromosome 3, 182759508: 182759508
32 MCCC1 NM_020166.4(MCCC1): c.1114C> T (p.Gln372Ter) single nucleotide variant Pathogenic rs544349961 GRCh38 Chromosome 3, 183041720: 183041720
33 MCCC1 NM_020166.4(MCCC1): c.205A> T (p.Lys69Ter) single nucleotide variant Pathogenic rs147741073 GRCh37 Chromosome 3, 182810265: 182810265
34 MCCC1 NM_020166.4(MCCC1): c.205A> T (p.Lys69Ter) single nucleotide variant Pathogenic rs147741073 GRCh38 Chromosome 3, 183092477: 183092477
35 MCCC1 NM_020166.4(MCCC1): c.640-2A> G single nucleotide variant Pathogenic/Likely pathogenic rs772395858 GRCh37 Chromosome 3, 182788910: 182788910
36 MCCC1 NM_020166.4(MCCC1): c.640-2A> G single nucleotide variant Pathogenic/Likely pathogenic rs772395858 GRCh38 Chromosome 3, 183071122: 183071122
37 MCCC1 NM_020166.4(MCCC1): c.841C> T (p.Arg281Ter) single nucleotide variant Pathogenic rs185741664 GRCh38 Chromosome 3, 183057343: 183057343
38 MCCC1 NM_020166.4(MCCC1): c.841C> T (p.Arg281Ter) single nucleotide variant Pathogenic rs185741664 GRCh37 Chromosome 3, 182775131: 182775131
39 MCCC1 NM_020166.4(MCCC1): c.137G> A (p.Gly46Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs199517715 GRCh38 Chromosome 3, 183092545: 183092545
40 MCCC1 NM_020166.4(MCCC1): c.137G> A (p.Gly46Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs199517715 GRCh37 Chromosome 3, 182810333: 182810333
41 MCCC1 NM_020166.4(MCCC1): c.1772G> A (p.Ser591Asn) single nucleotide variant Likely benign rs569721834 GRCh38 Chromosome 3, 183022514: 183022514
42 MCCC1 NM_020166.4(MCCC1): c.1772G> A (p.Ser591Asn) single nucleotide variant Likely benign rs569721834 GRCh37 Chromosome 3, 182740302: 182740302
43 MCCC1 NM_020166.4(MCCC1): c.231G> A (p.Ala77=) single nucleotide variant Conflicting interpretations of pathogenicity rs144230304 GRCh38 Chromosome 3, 183092451: 183092451
44 MCCC1 NM_020166.4(MCCC1): c.231G> A (p.Ala77=) single nucleotide variant Conflicting interpretations of pathogenicity rs144230304 GRCh37 Chromosome 3, 182810239: 182810239
45 MCCC1 NM_020166.4(MCCC1): c.1894C> T (p.Pro632Ser) single nucleotide variant Uncertain significance rs142867987 GRCh38 Chromosome 3, 183020213: 183020213
46 MCCC1 NM_020166.4(MCCC1): c.1894C> T (p.Pro632Ser) single nucleotide variant Uncertain significance rs142867987 GRCh37 Chromosome 3, 182738001: 182738001
47 MCCC1 NM_020166.4(MCCC1): c.640_641delGG (p.Gly214Asnfs) deletion Conflicting interpretations of pathogenicity rs886058209 GRCh38 Chromosome 3, 183071119: 183071120
48 MCCC1 NM_020166.4(MCCC1): c.640_641delGG (p.Gly214Asnfs) deletion Conflicting interpretations of pathogenicity rs886058209 GRCh37 Chromosome 3, 182788907: 182788908
49 MCCC1 NM_020166.4(MCCC1): c.1701G> A (p.Thr567=) single nucleotide variant Uncertain significance rs377320336 GRCh37 Chromosome 3, 182743573: 182743573
50 MCCC1 NM_020166.4(MCCC1): c.1701G> A (p.Thr567=) single nucleotide variant Uncertain significance rs377320336 GRCh38 Chromosome 3, 183025785: 183025785

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

GO Terms for 3-Methylcrotonyl-Coa Carboxylase 1 Deficiency

Sources for 3-Methylcrotonyl-Coa Carboxylase 1 Deficiency

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