MLYCD DEFICIENCY
MCID: MLN011
MIFTS: 37

Malonyl-Coa Decarboxylase Deficiency (MLYCD DEFICIENCY)

Categories: Genetic diseases, Metabolic diseases, Rare diseases

Aliases & Classifications for Malonyl-Coa Decarboxylase Deficiency

MalaCards integrated aliases for Malonyl-Coa Decarboxylase Deficiency:

Name: Malonyl-Coa Decarboxylase Deficiency 57 73 20 43 58 72 36 13 54 39
Malonic Aciduria 20 43 58 70
Deficiency of Malonyl-Coa Decarboxylase 43 29 6
Malonic Acidemia 20 70
Mcd Deficiency 20 43
Malonyl-Coenzyme a Decarboxylase Deficiency 43
Mlycd Deficiency 72
Malonicaciduria 20

Characteristics:

Orphanet epidemiological data:

58
malonic aciduria
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM®:

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

Miscellaneous:
symptoms may be precipitated by infection


HPO:

31
malonyl-coa decarboxylase deficiency:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Inborn errors of metabolism


Summaries for Malonyl-Coa Decarboxylase Deficiency

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 943 Definition Malonic aciduria is a metabolic disorder caused by deficiency of malonyl-CoA decarboxylase (MCD). Epidemiology It is a very rare disorder that has been described in less than 20 patients. Clinical description This condition usually presents in early childhood and the manifestations are variable. The majority of patients are developmentally delayed with other features that include hypotonia, seizures, hypoglycaemia, metabolic acidosis, cardiomyopathy and diarrhoea. Etiology The disease is caused by mutations in the malonyl-CoA decarboxylase gene ( MLYCD, chromosome 16q24) and is inherited as an autosomal recessive trait. The MCD enzyme is involved in the degradation of malonyl-CoA and it appears that inhibition of fatty acid synthesis as a result of malonyl-CoA accumulation is responsible for at least some of the clinical manifestations of the disorder. Diagnostic methods The diagnosis of malonic aciduria can be made by detecting elevated levels of organic acids (in particular malonic and methylmalonic acid) in the urine and high levels of malonylcarnitine in the blood. The diagnosis is confirmed by demonstrating reduced enzyme activity in cultured skin fibroblasts. Identification of the MLYCD gene mutation may also be useful for diagnosis and for genetic counselling. Antenatal diagnosis Screening of newborns may be possible through detection of elevated blood levels of malonylcarnitine using electrospray ionisation tandem mass spectrometry (ESI-MS/MS). Prenatal screening is theoretically possible through enzyme or DNA analysis of amniocytes or chorionic villus samples. Management and treatment The principle treatment is dietary, with patients being recommended to follow a low fat/high carbohydrate diet. Carnitine supplements may also be recommended. Prognosis The prognosis for patients is variable but the disease can be lethal in the neonatal period.

MalaCards based summary : Malonyl-Coa Decarboxylase Deficiency, also known as malonic aciduria, is related to atrial standstill 1 and autosomal recessive disease, and has symptoms including seizures, vomiting and abdominal pain. An important gene associated with Malonyl-Coa Decarboxylase Deficiency is MLYCD (Malonyl-CoA Decarboxylase), and among its related pathways/superpathways are beta-Alanine metabolism and Propanoate metabolism. Affiliated tissues include heart and brain, and related phenotypes are pachygyria and intellectual disability

MedlinePlus Genetics : 43 Malonyl-CoA decarboxylase deficiency is a condition that prevents the body from converting certain fats to energy. The signs and symptoms of this disorder typically appear in early childhood. Almost all affected children have delayed development. Additional signs and symptoms can include weak muscle tone (hypotonia), seizures, diarrhea, vomiting, and low blood sugar (hypoglycemia). A heart condition called cardiomyopathy, which weakens and enlarges the heart muscle, is another common feature of malonyl-CoA decarboxylase deficiency.

OMIM® : 57 Malonyl-CoA decarboxylase deficiency is an uncommon inherited metabolic disease. The characteristic phenotype is variable, but may include developmental delay in early childhood, seizures, hypotonia, diarrhea, vomiting, metabolic acidosis, hypoglycemia, ketosis, abnormal urinary compounds, lactic acidemia, and hypertrophic cardiomyopathy (Sweetman and Williams, 2001). (248360) (Updated 20-May-2021)

KEGG : 36 Malonyl-CoA decarboxylase deficiency is a rare autosomal recessive disease characterized by developmental delay, seizure, hypoglycemia, cardiomyopathy and malonic aciduria. Malonyl-CoA decarboxylase (MCD) is an enzyme involved in the metabolism of fatty acids synthesis and is important in muscle and brain metabolism. Mutations in MLYCD gene that encodes MCD, result in a deficiency of MCD activity.

UniProtKB/Swiss-Prot : 72 Malonyl-CoA decarboxylase deficiency: Autosomal recessive disease characterized by abdominal pain, chronic constipation, episodic vomiting, metabolic acidosis and malonic aciduria.

Wikipedia : 73 Malonyl-CoA decarboxylase deficiency (MCD), is an autosomal-recessive metabolic disorder caused by a... more...

Related Diseases for Malonyl-Coa Decarboxylase Deficiency

Graphical network of the top 20 diseases related to Malonyl-Coa Decarboxylase Deficiency:



Diseases related to Malonyl-Coa Decarboxylase Deficiency

Symptoms & Phenotypes for Malonyl-Coa Decarboxylase Deficiency

Human phenotypes related to Malonyl-Coa Decarboxylase Deficiency:

31 (showing 21, show less)
# Description HPO Frequency HPO Source Accession
1 pachygyria 31 occasional (7.5%) HP:0001302
2 intellectual disability 31 very rare (1%) HP:0001249
3 dilated cardiomyopathy 31 very rare (1%) HP:0001644
4 neonatal respiratory distress 31 very rare (1%) HP:0002643
5 delayed cns myelination 31 very rare (1%) HP:0002188
6 seizure 31 very rare (1%) HP:0001250
7 left ventricular noncompaction cardiomyopathy 31 very rare (1%) HP:0011664
8 constipation 31 HP:0002019
9 global developmental delay 31 HP:0001263
10 short stature 31 HP:0004322
11 vomiting 31 HP:0002013
12 hypoglycemia 31 HP:0001943
13 abdominal pain 31 HP:0002027
14 lactic acidosis 31 HP:0003128
15 metabolic acidosis 31 HP:0001942
16 methylmalonic aciduria 31 HP:0012120
17 diarrhea 31 HP:0002014
18 generalized hypotonia 31 HP:0001290
19 chronic constipation 31 HP:0012450
20 ketosis 31 HP:0001946
21 elevated urine suberic acid level 31 HP:0033213

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neurologic Central Nervous System:
seizures
frontotemporal atrophy
developmental delay in early childhood
white matter changes on brain imaging (less common)
pachygyria (less common)
more
Abdomen Gastrointestinal:
vomiting
abdominal pain
diarrhea
chronic constipation

Cardiovascular Heart:
hypertrophic cardiomyopathy

Muscle Soft Tissue:
hypotonia

Growth Height:
short stature

Laboratory Abnormalities:
hypoglycemia
ketosis
abnormal urinary compounds
lactic acidemia
mitochondrial malonyl-coa decarboxylase activity in fibroblasts is very low (as low as 4%)

Metabolic Features:
metabolic acidosis

Clinical features from OMIM®:

248360 (Updated 20-May-2021)

UMLS symptoms related to Malonyl-Coa Decarboxylase Deficiency:


seizures; vomiting; abdominal pain; diarrhea; chronic constipation

Drugs & Therapeutics for Malonyl-Coa Decarboxylase Deficiency

Interventional clinical trials:

(showing 1, show less)
# Name Status NCT ID Phase Drugs
1 Combined Malonic and Methylmalonic Aciduria (CMAMMA): Gene Identification and Outcome Study Unknown status NCT01289158

Search NIH Clinical Center for Malonyl-Coa Decarboxylase Deficiency

Genetic Tests for Malonyl-Coa Decarboxylase Deficiency

Genetic tests related to Malonyl-Coa Decarboxylase Deficiency:

# Genetic test Affiliating Genes
1 Deficiency of Malonyl-Coa Decarboxylase 29 MLYCD

Anatomical Context for Malonyl-Coa Decarboxylase Deficiency

MalaCards organs/tissues related to Malonyl-Coa Decarboxylase Deficiency:

40
Heart, Brain

Publications for Malonyl-Coa Decarboxylase Deficiency

Articles related to Malonyl-Coa Decarboxylase Deficiency:

(showing 49, show less)
# Title Authors PMID Year
1
MCD encodes peroxisomal and cytoplasmic forms of malonyl-CoA decarboxylase and is mutated in malonyl-CoA decarboxylase deficiency. 54 61 57 6
10455107 1999
2
The molecular basis of malonyl-CoA decarboxylase deficiency. 61 6 54 57
10417274 1999
3
Clinical, biochemical and molecular characteristics of malonyl-CoA decarboxylase deficiency and long-term follow-up of nine patients. 57 6 61
31395333 2019
4
MLYCD mutation analysis: evidence for protein mistargeting as a cause of MLYCD deficiency. 61 57 6
12955715 2003
5
Cloning and mutational analysis of human malonyl-coenzyme A decarboxylase. 6 57 61
9869665 1999
6
Malonyl coenzyme A decarboxylase deficiency. 6 61 57
8259873 1993
7
Malonyl coenzyme A decarboxylase deficiency. 57 6
6145813 1984
8
Brain abnormalities in a case of malonyl-CoA decarboxylase deficiency. 54 57 61
16275149 2006
9
Malonyl-CoA decarboxylase deficiency: long-term follow-up of a patient new clinical features and novel mutations. 61 6
24613099 2015
10
Clinical, enzymatic and molecular characterization of nine new patients with malonyl-coenzyme A decarboxylase deficiency. 61 6
17186413 2007
11
A new case of malonyl coenzyme A decarboxylase deficiency presenting with cardiomyopathy. 6 61
9177981 1997
12
Malonic aciduria and cardiomyopathy. 6 61
7609455 1993
13
Malonyl coenzyme A decarboxylase deficiency. Clinical and biochemical findings in a second child with a more severe enzyme defect. 57
3709568 1986
14
Fatal malonyl CoA decarboxylase deficiency due to maternal uniparental isodisomy of the telomeric end of chromosome 16. 61 54
17535268 2007
15
Cardiomyopathy and hypotonia in a 5-month-old infant with malonyl-coa decarboxylase deficiency: potential for preclinical diagnosis with expanded newborn screening. 61 54
16078122 2005
16
Tandem mass spectrometric determination of malonylcarnitine: diagnosis and neonatal screening of malonyl-CoA decarboxylase deficiency. 61 54
12651823 2003
17
Impaired mitochondrial fatty acid oxidative flux in fibroblasts from a patient with malonyl-CoA decarboxylase deficiency. 61 54
11461195 2001
18
Combined malonic and methylmalonic aciduria with normal malonyl-coenzyme A decarboxylase activity: a case supporting multiple aetiologies. 61 54
9700595 1998
19
Association of malonyl-CoA decarboxylase deficiency and heterozygote state for haemoglobin C disease. 54 61
7837777 1994
20
Malonyl coenzyme A decarboxylase deficiency with a novel mutation. 61
33745485 2021
21
A Korean child diagnosed with malonic aciduria harboring a novel start codon mutation following presentation with dilated cardiomyopathy. 61
32602666 2020
22
Typical or Atypical Hemolytic Uremic Syndrome and the Use of Eculizumab: 4 Illustrative Cases. 61
30933023 2019
23
Therapeutic plasma exchange in non-hematooncological disorders in pediatrics: A single center experience. 61
29501259 2018
24
"Classical organic acidurias": diagnosis and pathogenesis. 61
27613073 2017
25
A novel frameshift mutation of malonyl-CoA decarboxylase deficiency: clinical signs and therapy response of a late-diagnosed case. 61
28781843 2017
26
Identification and Quantitation of Malonic Acid Biomarkers of In-Born Error Metabolism by Targeted Metabolomics. 61
28315235 2017
27
Selective Screening for Organic Acidurias and Amino Acidopathies in Pakistani Children. 61
28492150 2017
28
A new case of malonyl-CoA decarboxylase deficiency with mild clinical features. 61
26858006 2016
29
Pilot Experience with an External Quality Assurance Scheme for Acylcarnitines in Plasma/Serum. 61
26898293 2016
30
Proteomic and Biochemical Studies of Lysine Malonylation Suggest Its Malonic Aciduria-associated Regulatory Role in Mitochondrial Function and Fatty Acid Oxidation. 61
26320211 2015
31
Valproate therapy exacerbating intermediate phenotype of methylmalonic aciduria. 61
26167218 2015
32
Detection of inborn errors of metabolism using GC-MS: over 3 years of experience in southern China. 61
25781538 2015
33
Metabolic Encephalopathy and Lipid Storage Myopathy Associated with a Presumptive Mitochondrial Fatty Acid Oxidation Defect in a Dog. 61
26664991 2015
34
Malonic aciduria: long-term follow-up of new patients detected by newborn screening. 61
25233985 2014
35
A new case of malonic aciduria with a presymptomatic diagnosis and an early treatment. 61
23177061 2013
36
[A case of malonyl-CoA decarboxylase deficiency: clinical and genetic study]. 61
23146740 2012
37
Sani-cloth wipe mimics rare enzyme deficiency malonic aciduria on newborn screen. 61
23071203 2012
38
A novel homozygous mutation in SUCLA2 gene identified by exome sequencing. 61
23010432 2012
39
Novel compound heterozygous mutation of MLYCD in a Chinese patient with malonic aciduria. 61
22104738 2012
40
Use of a long-chain triglyceride-restricted/medium-chain triglyceride-supplemented diet in a case of malonyl-CoA decarboxylase deficiency with cardiomyopathy. 61
20549361 2010
41
Impact of feeding problems on nutritional intake and growth: Oxford Feeding Study II. 61
12162383 2002
42
Rat malonyl-CoA decarboxylase; cloning, expression in E. coli and its biochemical characterization. 61
12297032 2002
43
Malonyl CoA decarboxylase deficiency: C to T transition in intron 2 of the MCD gene. 61
11550227 2001
44
Malonic aciduria in Maltese dogs: normal methylmalonic acid concentrations and malonyl-CoA decarboxylase activity in fibroblasts. 61
10604140 1999
45
Fatal neonatal malonic aciduria. 61
9501274 1998
46
Methylmalonic and malonic aciduria in a dog with progressive encephalomyelopathy. 61
8869944 1996
47
Malonic aciduria. 61
7537025 1994
48
The origin of free brain malonate. 61
1679205 1991
49
Metabolism of malonic semialdehyde in man. 61
6418146 1983

Variations for Malonyl-Coa Decarboxylase Deficiency

ClinVar genetic disease variations for Malonyl-Coa Decarboxylase Deficiency:

6 (showing 148, show less)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 MLYCD NM_012213.3(MLYCD):c.560C>G (p.Ser187Ter) SNV Pathogenic 4055 rs104894528 GRCh37: 16:83940623-83940623
GRCh38: 16:83907018-83907018
2 MLYCD NM_012213.3(MLYCD):c.949-14A>G SNV Pathogenic 4056 rs761146008 GRCh37: 16:83948547-83948547
GRCh38: 16:83914942-83914942
3 MLYCD NM_012213.3(MLYCD):c.640_641+2del Deletion Pathogenic 4057 rs1294168838 GRCh37: 16:83940700-83940703
GRCh38: 16:83907095-83907098
4 MLYCD NM_012213.3(MLYCD):c.1064_1065del (p.Phe355fs) Deletion Pathogenic 4058 rs1567636915 GRCh37: 16:83948675-83948676
GRCh38: 16:83915070-83915071
5 MLYCD NM_012213.3(MLYCD):c.119T>C (p.Met40Thr) SNV Pathogenic 4060 rs28937908 GRCh37: 16:83932868-83932868
GRCh38: 16:83899263-83899263
6 MLYCD MLYCD, 25-BP DEL, NT84 Deletion Pathogenic 4061 GRCh37:
GRCh38:
7 MLYCD NC_000016.10:g.(?_83899125)_(83915509_?)del Deletion Pathogenic 584161 GRCh37: 16:83932730-83949114
GRCh38: 16:83899125-83915509
8 MLYCD MLYCD, EX5DEL Deletion Pathogenic 869189 GRCh37:
GRCh38:
9 MLYCD NM_012213.3(MLYCD):c.637del (p.Ser213fs) Deletion Pathogenic 950996 GRCh37: 16:83940700-83940700
GRCh38: 16:83907095-83907095
10 MLYCD NM_012213.3(MLYCD):c.141_142del (p.Val48fs) Deletion Pathogenic 938044 GRCh37: 16:83932890-83932891
GRCh38: 16:83899285-83899286
11 MLYCD NM_012213.3(MLYCD):c.1A>T (p.Met1Leu) SNV Likely pathogenic 847051 GRCh37: 16:83932750-83932750
GRCh38: 16:83899145-83899145
12 MLYCD NM_012213.3(MLYCD):c.1236C>T (p.Arg412=) SNV Conflicting interpretations of pathogenicity 460443 rs370278897 GRCh37: 16:83948848-83948848
GRCh38: 16:83915243-83915243
13 MLYCD NM_012213.3(MLYCD):c.1074G>A (p.Ser358=) SNV Conflicting interpretations of pathogenicity 382102 rs377161125 GRCh37: 16:83948686-83948686
GRCh38: 16:83915081-83915081
14 MLYCD NM_012213.3(MLYCD):c.1098C>T (p.Ile366=) SNV Conflicting interpretations of pathogenicity 320732 rs199549095 GRCh37: 16:83948710-83948710
GRCh38: 16:83915105-83915105
15 MLYCD NM_012213.3(MLYCD):c.1328G>C (p.Gly443Ala) SNV Conflicting interpretations of pathogenicity 320735 rs200278015 GRCh37: 16:83948940-83948940
GRCh38: 16:83915335-83915335
16 MLYCD NM_012213.3(MLYCD):c.*130G>T SNV Uncertain significance 320744 rs551713915 GRCh37: 16:83949224-83949224
GRCh38: 16:83915619-83915619
17 MLYCD NM_012213.3(MLYCD):c.*218C>A SNV Uncertain significance 320747 rs556228149 GRCh37: 16:83949312-83949312
GRCh38: 16:83915707-83915707
18 MLYCD NM_012213.3(MLYCD):c.13G>A (p.Gly5Arg) SNV Uncertain significance 320720 rs745604653 GRCh37: 16:83932762-83932762
GRCh38: 16:83899157-83899157
19 MLYCD NM_012213.3(MLYCD):c.*286G>T SNV Uncertain significance 320750 rs573672482 GRCh37: 16:83949380-83949380
GRCh38: 16:83915775-83915775
20 MLYCD NM_012213.3(MLYCD):c.1160C>T (p.Ser387Leu) SNV Uncertain significance 320733 rs376324546 GRCh37: 16:83948772-83948772
GRCh38: 16:83915167-83915167
21 MLYCD NM_012213.3(MLYCD):c.-11T>C SNV Uncertain significance 320719 rs886052355 GRCh37: 16:83932739-83932739
GRCh38: 16:83899134-83899134
22 MLYCD NM_012213.3(MLYCD):c.*281G>A SNV Uncertain significance 320749 rs886052361 GRCh37: 16:83949375-83949375
GRCh38: 16:83915770-83915770
23 MLYCD NM_012213.3(MLYCD):c.*504C>A SNV Uncertain significance 320755 rs534037213 GRCh37: 16:83949598-83949598
GRCh38: 16:83915993-83915993
24 MLYCD NM_012213.3(MLYCD):c.135C>T (p.Arg45=) SNV Uncertain significance 320721 rs767969074 GRCh37: 16:83932884-83932884
GRCh38: 16:83899279-83899279
25 MLYCD NM_012213.3(MLYCD):c.1424A>G (p.Lys475Arg) SNV Uncertain significance 320738 rs200413924 GRCh37: 16:83949036-83949036
GRCh38: 16:83915431-83915431
26 MLYCD NM_012213.3(MLYCD):c.463G>T (p.Val155Leu) SNV Uncertain significance 320723 rs764848387 GRCh37: 16:83933212-83933212
GRCh38: 16:83899607-83899607
27 MLYCD NM_012213.3(MLYCD):c.505C>T (p.Leu169=) SNV Uncertain significance 320725 rs771885443 GRCh37: 16:83933254-83933254
GRCh38: 16:83899649-83899649
28 MLYCD NM_012213.3(MLYCD):c.*82C>G SNV Uncertain significance 320743 rs531927478 GRCh37: 16:83949176-83949176
GRCh38: 16:83915571-83915571
29 MLYCD NM_012213.3(MLYCD):c.734C>G (p.Thr245Ser) SNV Uncertain significance 320728 rs886052358 GRCh37: 16:83941823-83941823
GRCh38: 16:83908218-83908218
30 MLYCD NM_012213.3(MLYCD):c.*213G>A SNV Uncertain significance 320746 rs886052360 GRCh37: 16:83949307-83949307
GRCh38: 16:83915702-83915702
31 MLYCD NM_012213.3(MLYCD):c.8G>A (p.Gly3Asp) SNV Uncertain significance 4059 rs121908081 GRCh37: 16:83932757-83932757
GRCh38: 16:83899152-83899152
32 MLYCD NM_012213.3(MLYCD):c.*653A>C SNV Uncertain significance 320757 rs372689737 GRCh37: 16:83949747-83949747
GRCh38: 16:83916142-83916142
33 MLYCD NM_012213.3(MLYCD):c.1344C>T (p.Cys448=) SNV Uncertain significance 320737 rs534173407 GRCh37: 16:83948956-83948956
GRCh38: 16:83915351-83915351
34 MLYCD NM_012213.3(MLYCD):c.929G>C (p.Arg310Pro) SNV Uncertain significance 420574 rs146465073 GRCh37: 16:83945953-83945953
GRCh38: 16:83912348-83912348
35 MLYCD NM_012213.3(MLYCD):c.475del (p.Ala159fs) Deletion Uncertain significance 203813 rs796051991 GRCh37: 16:83933222-83933222
GRCh38: 16:83899617-83899617
36 MLYCD NM_012213.3(MLYCD):c.1294C>T (p.Arg432Cys) SNV Uncertain significance 650475 rs35124955 GRCh37: 16:83948906-83948906
GRCh38: 16:83915301-83915301
37 MLYCD NM_012213.3(MLYCD):c.637A>T (p.Ser213Cys) SNV Uncertain significance 653829 rs552425982 GRCh37: 16:83940700-83940700
GRCh38: 16:83907095-83907095
38 MLYCD NM_012213.3(MLYCD):c.1097T>A (p.Ile366Asn) SNV Uncertain significance 655558 rs376504760 GRCh37: 16:83948709-83948709
GRCh38: 16:83915104-83915104
39 MLYCD NM_012213.3(MLYCD):c.1255G>A (p.Val419Met) SNV Uncertain significance 657813 rs773101554 GRCh37: 16:83948867-83948867
GRCh38: 16:83915262-83915262
40 MLYCD NM_012213.3(MLYCD):c.901G>C (p.Val301Leu) SNV Uncertain significance 460447 rs199656023 GRCh37: 16:83945925-83945925
GRCh38: 16:83912320-83912320
41 MLYCD NM_012213.3(MLYCD):c.1373T>C (p.Leu458Pro) SNV Uncertain significance 529872 rs768566945 GRCh37: 16:83948985-83948985
GRCh38: 16:83915380-83915380
42 MLYCD NM_012213.3(MLYCD):c.1329C>T (p.Gly443=) SNV Uncertain significance 529873 rs1240849577 GRCh37: 16:83948941-83948941
GRCh38: 16:83915336-83915336
43 MLYCD NM_012213.3(MLYCD):c.892C>G (p.Leu298Val) SNV Uncertain significance 529874 rs563907654 GRCh37: 16:83945916-83945916
GRCh38: 16:83912311-83912311
44 MLYCD NM_012213.3(MLYCD):c.553A>T (p.Met185Leu) SNV Uncertain significance 529875 rs1212880594 GRCh37: 16:83940616-83940616
GRCh38: 16:83907011-83907011
45 MLYCD NM_012213.3(MLYCD):c.1336G>A (p.Gly446Ser) SNV Uncertain significance 320736 rs377075332 GRCh37: 16:83948948-83948948
GRCh38: 16:83915343-83915343
46 MLYCD NM_012213.3(MLYCD):c.178A>G (p.Thr60Ala) SNV Uncertain significance 320722 rs886052356 GRCh37: 16:83932927-83932927
GRCh38: 16:83899322-83899322
47 MLYCD NM_012213.3(MLYCD):c.*42C>T SNV Uncertain significance 320742 rs768055540 GRCh37: 16:83949136-83949136
GRCh38: 16:83915531-83915531
48 MLYCD NM_012213.3(MLYCD):c.613C>T (p.Pro205Ser) SNV Uncertain significance 320727 rs759089126 GRCh37: 16:83940676-83940676
GRCh38: 16:83907071-83907071
49 MLYCD NM_012213.3(MLYCD):c.1433A>G (p.Glu478Gly) SNV Uncertain significance 320739 rs200078965 GRCh37: 16:83949045-83949045
GRCh38: 16:83915440-83915440
50 MLYCD NM_012213.3(MLYCD):c.468G>C (p.Gln156His) SNV Uncertain significance 320724 rs886052357 GRCh37: 16:83933217-83933217
GRCh38: 16:83899612-83899612
51 MLYCD NM_012213.3(MLYCD):c.787A>G (p.Ser263Gly) SNV Uncertain significance 320729 rs570550620 GRCh37: 16:83941876-83941876
GRCh38: 16:83908271-83908271
52 MLYCD NM_012213.3(MLYCD):c.*135A>G SNV Uncertain significance 320745 rs571831745 GRCh37: 16:83949229-83949229
GRCh38: 16:83915624-83915624
53 MLYCD NM_012213.3(MLYCD):c.*220A>G SNV Uncertain significance 320748 rs576158206 GRCh37: 16:83949314-83949314
GRCh38: 16:83915709-83915709
54 MLYCD NM_012213.3(MLYCD):c.998G>T (p.Gly333Val) SNV Uncertain significance 320730 rs886052359 GRCh37: 16:83948610-83948610
GRCh38: 16:83915005-83915005
55 MLYCD NM_012213.3(MLYCD):c.754G>A (p.Val252Ile) SNV Uncertain significance 460446 rs1555538351 GRCh37: 16:83941843-83941843
GRCh38: 16:83908238-83908238
56 MLYCD NC_000016.10:g.(?_83914936)_(83915509_?)del Deletion Uncertain significance 831014 GRCh37: 16:83948541-83949114
GRCh38:
57 MLYCD NM_012213.3(MLYCD):c.394G>T (p.Ala132Ser) SNV Uncertain significance 835358 GRCh37: 16:83933143-83933143
GRCh38: 16:83899538-83899538
58 MLYCD NM_012213.3(MLYCD):c.1027A>T (p.Asn343Tyr) SNV Uncertain significance 841484 GRCh37: 16:83948639-83948639
GRCh38: 16:83915034-83915034
59 MLYCD NM_012213.3(MLYCD):c.1427C>T (p.Ala476Val) SNV Uncertain significance 845823 GRCh37: 16:83949039-83949039
GRCh38: 16:83915434-83915434
60 MLYCD NM_012213.3(MLYCD):c.1081A>G (p.Lys361Glu) SNV Uncertain significance 460441 rs1287261177 GRCh37: 16:83948693-83948693
GRCh38: 16:83915088-83915088
61 MLYCD NM_012213.3(MLYCD):c.1175G>A (p.Arg392Gln) SNV Uncertain significance 567925 rs201576638 GRCh37: 16:83948787-83948787
GRCh38: 16:83915182-83915182
62 MLYCD NM_012213.3(MLYCD):c.482T>C (p.Leu161Pro) SNV Uncertain significance 570913 rs780734812 GRCh37: 16:83933231-83933231
GRCh38: 16:83899626-83899626
63 MLYCD NM_012213.3(MLYCD):c.641+3A>C SNV Uncertain significance 577880 rs370078811 GRCh37: 16:83940707-83940707
GRCh38: 16:83907102-83907102
64 MLYCD NM_012213.3(MLYCD):c.1351A>G (p.Met451Val) SNV Uncertain significance 582754 rs1567637203 GRCh37: 16:83948963-83948963
GRCh38: 16:83915358-83915358
65 MLYCD NM_012213.3(MLYCD):c.1013T>C (p.Leu338Pro) SNV Uncertain significance 432061 rs374073138 GRCh37: 16:83948625-83948625
GRCh38: 16:83915020-83915020
66 MLYCD NM_012213.3(MLYCD):c.322G>A (p.Gly108Ser) SNV Uncertain significance 884282 GRCh37: 16:83933071-83933071
GRCh38: 16:83899466-83899466
67 MLYCD NM_012213.3(MLYCD):c.*304C>G SNV Uncertain significance 887555 GRCh37: 16:83949398-83949398
GRCh38: 16:83915793-83915793
68 MLYCD NM_012213.3(MLYCD):c.*382G>A SNV Uncertain significance 887556 GRCh37: 16:83949476-83949476
GRCh38: 16:83915871-83915871
69 MLYCD NM_012213.3(MLYCD):c.*391A>T SNV Uncertain significance 887557 GRCh37: 16:83949485-83949485
GRCh38: 16:83915880-83915880
70 MLYCD NM_012213.3(MLYCD):c.*430C>T SNV Uncertain significance 887558 GRCh37: 16:83949524-83949524
GRCh38: 16:83915919-83915919
71 MLYCD NM_012213.3(MLYCD):c.*437G>C SNV Uncertain significance 887559 GRCh37: 16:83949531-83949531
GRCh38: 16:83915926-83915926
72 MLYCD NM_012213.3(MLYCD):c.495G>A (p.Gln165=) SNV Uncertain significance 884283 GRCh37: 16:83933244-83933244
GRCh38: 16:83899639-83899639
73 MLYCD NM_012213.3(MLYCD):c.1158G>T (p.Gln386His) SNV Uncertain significance 884347 GRCh37: 16:83948770-83948770
GRCh38: 16:83915165-83915165
74 MLYCD NM_012213.3(MLYCD):c.1335C>T (p.Thr445=) SNV Uncertain significance 884348 GRCh37: 16:83948947-83948947
GRCh38: 16:83915342-83915342
75 MLYCD NM_012213.3(MLYCD):c.*591G>A SNV Uncertain significance 884405 GRCh37: 16:83949685-83949685
GRCh38: 16:83916080-83916080
76 MLYCD NM_012213.3(MLYCD):c.*671C>A SNV Uncertain significance 884406 GRCh37: 16:83949765-83949765
GRCh38: 16:83916160-83916160
77 MLYCD NM_012213.3(MLYCD):c.577G>A (p.Gly193Arg) SNV Uncertain significance 886312 GRCh37: 16:83940640-83940640
GRCh38: 16:83907035-83907035
78 MLYCD NM_012213.3(MLYCD):c.592G>A (p.Glu198Lys) SNV Uncertain significance 886313 GRCh37: 16:83940655-83940655
GRCh38: 16:83907050-83907050
79 MLYCD NM_012213.3(MLYCD):c.641+11C>T SNV Uncertain significance 886314 GRCh37: 16:83940715-83940715
GRCh38: 16:83907110-83907110
80 MLYCD NM_012213.3(MLYCD):c.1472G>T (p.Ser491Ile) SNV Uncertain significance 886367 GRCh37: 16:83949084-83949084
GRCh38: 16:83915479-83915479
81 MLYCD NM_012213.3(MLYCD):c.658C>T (p.Pro220Ser) SNV Uncertain significance 887308 GRCh37: 16:83941747-83941747
GRCh38: 16:83908142-83908142
82 MLYCD NM_012213.3(MLYCD):c.741G>T (p.Gly247=) SNV Uncertain significance 723297 rs376948469 GRCh37: 16:83941830-83941830
GRCh38: 16:83908225-83908225
83 MLYCD NM_012213.3(MLYCD):c.748C>G (p.Leu250Val) SNV Uncertain significance 887309 GRCh37: 16:83941837-83941837
GRCh38: 16:83908232-83908232
84 MLYCD NM_012213.3(MLYCD):c.762C>T (p.His254=) SNV Uncertain significance 887310 GRCh37: 16:83941851-83941851
GRCh38: 16:83908246-83908246
85 MLYCD NM_012213.3(MLYCD):c.1073C>G (p.Ser358Trp) SNV Uncertain significance 848473 GRCh37: 16:83948685-83948685
GRCh38: 16:83915080-83915080
86 MLYCD NM_012213.3(MLYCD):c.497C>T (p.Ala166Val) SNV Uncertain significance 851669 GRCh37: 16:83933246-83933246
GRCh38: 16:83899641-83899641
87 MLYCD NM_012213.3(MLYCD):c.1424A>T (p.Lys475Ile) SNV Uncertain significance 950409 GRCh37: 16:83949036-83949036
GRCh38: 16:83915431-83915431
88 MLYCD NM_012213.3(MLYCD):c.32G>A (p.Arg11Lys) SNV Uncertain significance 888501 GRCh37: 16:83932781-83932781
GRCh38: 16:83899176-83899176
89 MLYCD NM_012213.3(MLYCD):c.41T>G (p.Leu14Arg) SNV Uncertain significance 888502 GRCh37: 16:83932790-83932790
GRCh38: 16:83899185-83899185
90 MLYCD NM_012213.3(MLYCD):c.913A>G (p.Thr305Ala) SNV Uncertain significance 888559 GRCh37: 16:83945937-83945937
GRCh38: 16:83912332-83912332
91 MLYCD NM_012213.3(MLYCD):c.984G>T (p.Leu328=) SNV Uncertain significance 888560 GRCh37: 16:83948596-83948596
GRCh38: 16:83914991-83914991
92 MLYCD NM_012213.3(MLYCD):c.355G>T (p.Ala119Ser) SNV Uncertain significance 935141 GRCh37: 16:83933104-83933104
GRCh38: 16:83899499-83899499
93 MLYCD NM_012213.3(MLYCD):c.292G>A (p.Asp98Asn) SNV Uncertain significance 951404 GRCh37: 16:83933041-83933041
GRCh38: 16:83899436-83899436
94 MLYCD NM_012213.3(MLYCD):c.875G>A (p.Ser292Asn) SNV Uncertain significance 951455 GRCh37: 16:83945899-83945899
GRCh38: 16:83912294-83912294
95 MLYCD NM_012213.3(MLYCD):c.1174C>T (p.Arg392Trp) SNV Uncertain significance 967309 GRCh37: 16:83948786-83948786
GRCh38: 16:83915181-83915181
96 MLYCD NM_012213.3(MLYCD):c.1146C>T (p.Ser382=) SNV Uncertain significance 386354 rs373273203 GRCh37: 16:83948758-83948758
GRCh38: 16:83915153-83915153
97 MLYCD NM_012213.3(MLYCD):c.1031C>T (p.Ser344Leu) SNV Uncertain significance 971765 GRCh37: 16:83948643-83948643
GRCh38: 16:83915038-83915038
98 MLYCD NM_012213.3(MLYCD):c.1241A>G (p.Tyr414Cys) SNV Uncertain significance 1000375 GRCh37: 16:83948853-83948853
GRCh38: 16:83915248-83915248
99 MLYCD NM_012213.3(MLYCD):c.219C>G (p.Ser73Arg) SNV Uncertain significance 1001297 GRCh37: 16:83932968-83932968
GRCh38: 16:83899363-83899363
100 MLYCD NM_012213.3(MLYCD):c.1276A>G (p.Asn426Asp) SNV Uncertain significance 1003279 GRCh37: 16:83948888-83948888
GRCh38: 16:83915283-83915283
101 MLYCD NM_012213.3(MLYCD):c.949-8C>G SNV Uncertain significance 1003882 GRCh37: 16:83948553-83948553
GRCh38: 16:83914948-83914948
102 MLYCD NM_012213.3(MLYCD):c.8G>T (p.Gly3Val) SNV Uncertain significance 1006760 GRCh37: 16:83932757-83932757
GRCh38: 16:83899152-83899152
103 MLYCD NM_012213.3(MLYCD):c.929G>A (p.Arg310Gln) SNV Uncertain significance 1014754 GRCh37: 16:83945953-83945953
GRCh38: 16:83912348-83912348
104 MLYCD NM_012213.3(MLYCD):c.1237G>C (p.Gly413Arg) SNV Uncertain significance 1015436 GRCh37: 16:83948849-83948849
GRCh38: 16:83915244-83915244
105 MLYCD NM_012213.3(MLYCD):c.164A>T (p.Glu55Val) SNV Uncertain significance 1018859 GRCh37: 16:83932913-83932913
GRCh38: 16:83899308-83899308
106 MLYCD NM_012213.3(MLYCD):c.1420A>G (p.Ile474Val) SNV Uncertain significance 501148 rs375935118 GRCh37: 16:83949032-83949032
GRCh38: 16:83915427-83915427
107 MLYCD NM_012213.3(MLYCD):c.703A>G (p.Arg235Gly) SNV Uncertain significance 1034949 GRCh37: 16:83941792-83941792
GRCh38: 16:83908187-83908187
108 MLYCD NM_012213.3(MLYCD):c.64C>T (p.Pro22Ser) SNV Uncertain significance 1043985 GRCh37: 16:83932813-83932813
GRCh38: 16:83899208-83899208
109 MLYCD NM_012213.3(MLYCD):c.1178C>G (p.Ala393Gly) SNV Uncertain significance 1045713 GRCh37: 16:83948790-83948790
GRCh38: 16:83915185-83915185
110 MLYCD NM_012213.3(MLYCD):c.1153G>A (p.Val385Met) SNV Uncertain significance 888561 GRCh37: 16:83948765-83948765
GRCh38: 16:83915160-83915160
111 MLYCD NM_012213.3(MLYCD):c.226G>T (p.Gly76Cys) SNV Uncertain significance 1051612 GRCh37: 16:83932975-83932975
GRCh38: 16:83899370-83899370
112 MLYCD NM_012213.3(MLYCD):c.763G>A (p.Val255Met) SNV Uncertain significance 1052762 GRCh37: 16:83941852-83941852
GRCh38: 16:83908247-83908247
113 MLYCD NM_012213.3(MLYCD):c.880A>G (p.Thr294Ala) SNV Uncertain significance 1054844 GRCh37: 16:83945904-83945904
GRCh38: 16:83912299-83912299
114 MLYCD NM_012213.3(MLYCD):c.620A>T (p.Glu207Val) SNV Uncertain significance 1058354 GRCh37: 16:83940683-83940683
GRCh38: 16:83907078-83907078
115 MLYCD NM_012213.3(MLYCD):c.*442C>G SNV Likely benign 887560 GRCh37: 16:83949536-83949536
GRCh38: 16:83915931-83915931
116 MLYCD NM_012213.3(MLYCD):c.393C>T (p.Tyr131=) SNV Likely benign 390554 rs560831102 GRCh37: 16:83933142-83933142
GRCh38: 16:83899537-83899537
117 MLYCD NM_012213.3(MLYCD):c.798+8C>T SNV Likely benign 703572 rs199720670 GRCh37: 16:83941895-83941895
GRCh38: 16:83908290-83908290
118 MLYCD NM_012213.3(MLYCD):c.1089C>A (p.Ile363=) SNV Likely benign 742231 rs372909321 GRCh37: 16:83948701-83948701
GRCh38: 16:83915096-83915096
119 MLYCD NM_012213.3(MLYCD):c.1383G>A (p.Thr461=) SNV Likely benign 507520 rs375344095 GRCh37: 16:83948995-83948995
GRCh38: 16:83915390-83915390
120 MLYCD NM_012213.3(MLYCD):c.*288G>T SNV Likely benign 320751 rs542680156 GRCh37: 16:83949382-83949382
GRCh38: 16:83915777-83915777
121 MLYCD NM_012213.3(MLYCD):c.1044G>T (p.Glu348Asp) SNV Likely benign 320731 rs138675420 GRCh37: 16:83948656-83948656
GRCh38: 16:83915051-83915051
122 MLYCD NM_012213.3(MLYCD):c.9C>T (p.Gly3=) SNV Likely benign 529876 rs1417139377 GRCh37: 16:83932758-83932758
GRCh38: 16:83899153-83899153
123 MLYCD NM_012213.3(MLYCD):c.507G>A (p.Leu169=) SNV Likely benign 378148 rs555482480 GRCh37: 16:83933256-83933256
GRCh38: 16:83899651-83899651
124 MLYCD NM_012213.3(MLYCD):c.799-16C>T SNV Likely benign 381435 rs150789545 GRCh37: 16:83945807-83945807
GRCh38: 16:83912202-83912202
125 MLYCD NM_012213.3(MLYCD):c.686G>A (p.Arg229His) SNV Likely benign 697439 rs142117752 GRCh37: 16:83941775-83941775
GRCh38: 16:83908170-83908170
126 MLYCD NM_012213.3(MLYCD):c.*382G>T SNV Likely benign 320752 rs545195059 GRCh37: 16:83949476-83949476
GRCh38: 16:83915871-83915871
127 MLYCD NM_012213.3(MLYCD):c.1464A>G (p.Gln488=) SNV Benign/Likely benign 320740 rs1127368 GRCh37: 16:83949076-83949076
GRCh38: 16:83915471-83915471
128 MLYCD NM_012213.3(MLYCD):c.206C>T (p.Ala69Val) SNV Benign/Likely benign 252676 rs200579941 GRCh37: 16:83932955-83932955
GRCh38: 16:83899350-83899350
129 MLYCD NM_012213.3(MLYCD):c.776G>C (p.Gly259Ala) SNV Benign/Likely benign 95505 rs77493891 GRCh37: 16:83941865-83941865
GRCh38: 16:83908260-83908260
130 MLYCD NM_012213.3(MLYCD):c.375C>G (p.Ala125=) SNV Benign 386040 rs375657338 GRCh37: 16:83933124-83933124
GRCh38: 16:83899519-83899519
131 MLYCD NM_012213.3(MLYCD):c.541G>A (p.Val181Met) SNV Benign 460445 rs147617160 GRCh37: 16:83940604-83940604
GRCh38: 16:83906999-83906999
132 MLYCD NM_012213.3(MLYCD):c.-7G>A SNV Benign 383059 rs9930103 GRCh37: 16:83932743-83932743
GRCh38: 16:83899138-83899138
133 MLYCD NM_012213.3(MLYCD):c.*254C>G SNV Benign 887364 GRCh37: 16:83949348-83949348
GRCh38: 16:83915743-83915743
134 MLYCD NM_012213.3(MLYCD):c.*618G>C SNV Benign 320756 rs75701127 GRCh37: 16:83949712-83949712
GRCh38: 16:83916107-83916107
135 MLYCD NM_012213.3(MLYCD):c.732G>A (p.Ser244=) SNV Benign 138235 rs2278038 GRCh37: 16:83941821-83941821
GRCh38: 16:83908216-83908216
136 MLYCD NM_012213.3(MLYCD):c.925A>C (p.Lys309Gln) SNV Benign 138233 rs149926091 GRCh37: 16:83945949-83945949
GRCh38: 16:83912344-83912344
137 MLYCD NM_012213.3(MLYCD):c.528+19T>C SNV Benign 95501 rs446036 GRCh37: 16:83933296-83933296
GRCh38: 16:83899691-83899691
138 MLYCD NM_012213.3(MLYCD):c.*671C>T SNV Benign 320758 rs74830340 GRCh37: 16:83949765-83949765
GRCh38: 16:83916160-83916160
139 MLYCD NM_012213.3(MLYCD):c.*27C>T SNV Benign 320741 rs565054759 GRCh37: 16:83949121-83949121
GRCh38: 16:83915516-83915516
140 MLYCD NM_012213.3(MLYCD):c.529-8C>T SNV Benign 320726 rs3815806 GRCh37: 16:83940584-83940584
GRCh38: 16:83906979-83906979
141 MLYCD NM_012213.3(MLYCD):c.*412T>C SNV Benign 320753 rs1127382 GRCh37: 16:83949506-83949506
GRCh38: 16:83915901-83915901
142 MLYCD NM_012213.3(MLYCD):c.642-5C>T SNV Benign 95503 rs2278037 GRCh37: 16:83941726-83941726
GRCh38: 16:83908121-83908121
143 MLYCD NM_012213.3(MLYCD):c.444C>T (p.Asp148=) SNV Benign 95500 rs62640904 GRCh37: 16:83933193-83933193
GRCh38: 16:83899588-83899588
144 MLYCD NM_012213.3(MLYCD):c.1203G>A (p.Leu401=) SNV Benign 320734 rs200341673 GRCh37: 16:83948815-83948815
GRCh38: 16:83915210-83915210
145 MLYCD NM_012213.3(MLYCD):c.*460A>C SNV Benign 320754 rs1127387 GRCh37: 16:83949554-83949554
GRCh38: 16:83915949-83915949
146 MLYCD NM_012213.3(MLYCD):c.642-12A>T SNV Benign 95502 rs2278036 GRCh37: 16:83941719-83941719
GRCh38: 16:83908114-83908114
147 MLYCD NM_012213.3(MLYCD):c.850A>G (p.Thr284Ala) SNV Benign 138232 rs62640903 GRCh37: 16:83945874-83945874
GRCh38: 16:83912269-83912269
148 MLYCD NM_012213.3(MLYCD):c.31A>G (p.Arg11Gly) SNV Benign 138234 rs138107830 GRCh37: 16:83932780-83932780
GRCh38: 16:83899175-83899175

Expression for Malonyl-Coa Decarboxylase Deficiency

Search GEO for disease gene expression data for Malonyl-Coa Decarboxylase Deficiency.

Pathways for Malonyl-Coa Decarboxylase Deficiency

Pathways related to Malonyl-Coa Decarboxylase Deficiency according to KEGG:

36 (showing 3, show less)
# Name Kegg Source Accession
1 beta-Alanine metabolism hsa00410
2 Propanoate metabolism hsa00640
3 Peroxisome hsa04146

GO Terms for Malonyl-Coa Decarboxylase Deficiency

Sources for Malonyl-Coa Decarboxylase 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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