DECRD
MCID: 24D001
MIFTS: 30

2,4-Dienoyl-Coa Reductase Deficiency (DECRD)

Categories: Genetic diseases, Metabolic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for 2,4-Dienoyl-Coa Reductase Deficiency

MalaCards integrated aliases for 2,4-Dienoyl-Coa Reductase Deficiency:

Name: 2,4-Dienoyl-Coa Reductase Deficiency 58 54 60 76 38 30 6 41 74
Decrd 58 76
Progressive Encephalopathy with Leukodystrophy Due to Decr Deficiency 60
2,4-Alpha Dienoyl-Coa Reductase Deficiency 54
Decr Deficiency with Hyperlysinemia 60
Dienoyl-Coa Reductase Deficiency 54

Characteristics:

Orphanet epidemiological data:

60
progressive encephalopathy with leukodystrophy due to decr deficiency
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: early childhood,infantile;

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
death in early childhood
onset in the neonatal period or early infancy
two unrelated patients have been reported, but nadk2 mutation has only been confirmed in 1 patient (last curated september 2014)


HPO:

33
2,4-dienoyl-coa reductase deficiency:
Clinical modifier death in infancy
Inheritance autosomal recessive inheritance


Classifications:



Summaries for 2,4-Dienoyl-Coa Reductase Deficiency

OMIM : 58 DECR deficiency is a rare autosomal recessive inborn error of metabolism resulting in mitochondrial dysfunction. Affected individuals have a severe encephalopathy with neurologic and metabolic dysfunction beginning in early infancy. Laboratory studies show decreased activity of the mitochondrial NADP(H)-dependent enzymes DECR1 (222745) and AASS (605113), resulting in increased C10:2-carnitine levels and hyperlysinemia (summary by Houten et al., 2014). (616034)

MalaCards based summary : 2,4-Dienoyl-Coa Reductase Deficiency, also known as decrd, is related to hyperlysinemia, type i and hypoglycemia, and has symptoms including seizures and muscle spasticity. An important gene associated with 2,4-Dienoyl-Coa Reductase Deficiency is NADK2 (NAD Kinase 2, Mitochondrial), and among its related pathways/superpathways is Nicotinate and nicotinamide metabolism. Affiliated tissues include eye, and related phenotypes are nystagmus and seizures

NIH Rare Diseases : 54 2,4-Dienoyl-CoA reductase deficiency is associated with hypotonia and respiratory acidosis in infancy. This condition may be associated with the DECR1 gene and likely has an autosomal recessive pattern of inheritance.

UniProtKB/Swiss-Prot : 76 2,4-dienoyl-CoA reductase deficiency: A rare, autosomal recessive, inborn error of polyunsaturated fatty acids and lysine metabolism, resulting in mitochondrial dysfunction. Affected individuals have a severe encephalopathy with neurologic and metabolic abnormalities beginning in early infancy. Laboratory studies show increased C10:2 carnitine levels and hyperlysinemia.

Wikipedia : 77 2,4 Dienoyl-CoA reductase also known as DECR1 is an enzyme which in humans is encoded by the DECR1 gene... more...

Related Diseases for 2,4-Dienoyl-Coa Reductase Deficiency

Diseases related to 2,4-Dienoyl-Coa Reductase Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 hyperlysinemia, type i 29.3 AASS DECR1 NADK2
2 hypoglycemia 10.4

Symptoms & Phenotypes for 2,4-Dienoyl-Coa Reductase Deficiency

Human phenotypes related to 2,4-Dienoyl-Coa Reductase Deficiency:

60 33 (show all 33)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nystagmus 60 33 frequent (33%) Frequent (79-30%) HP:0000639
2 seizures 60 33 frequent (33%) Frequent (79-30%) HP:0001250
3 failure to thrive 60 33 frequent (33%) Frequent (79-30%) HP:0001508
4 global developmental delay 60 33 frequent (33%) Frequent (79-30%) HP:0001263
5 microcephaly 60 33 frequent (33%) Frequent (79-30%) HP:0000252
6 neonatal hypotonia 60 33 frequent (33%) Frequent (79-30%) HP:0001319
7 dystonia 60 33 frequent (33%) Frequent (79-30%) HP:0001332
8 pancreatitis 60 33 frequent (33%) Frequent (79-30%) HP:0001733
9 ventriculomegaly 60 33 frequent (33%) Frequent (79-30%) HP:0002119
10 choreoathetosis 60 33 frequent (33%) Frequent (79-30%) HP:0001266
11 abnormal basal ganglia mri signal intensity 60 33 frequent (33%) Frequent (79-30%) HP:0012751
12 progressive encephalopathy 60 33 frequent (33%) Frequent (79-30%) HP:0002448
13 cerebellar atrophy 60 33 frequent (33%) Frequent (79-30%) HP:0001272
14 hypoplasia of the corpus callosum 60 33 frequent (33%) Frequent (79-30%) HP:0002079
15 progressive spastic quadriplegia 60 33 frequent (33%) Frequent (79-30%) HP:0002478
16 leukodystrophy 60 33 frequent (33%) Frequent (79-30%) HP:0002415
17 renal tubular acidosis 60 33 frequent (33%) Frequent (79-30%) HP:0001947
18 cerebral visual impairment 60 33 frequent (33%) Frequent (79-30%) HP:0100704
19 decreased plasma carnitine 60 33 frequent (33%) Frequent (79-30%) HP:0003234
20 central sleep apnea 60 33 frequent (33%) Frequent (79-30%) HP:0010536
21 nonprogressive cerebellar ataxia 60 33 frequent (33%) Frequent (79-30%) HP:0002470
22 organic aciduria 60 33 frequent (33%) Frequent (79-30%) HP:0001992
23 hyperlysinemia 60 33 frequent (33%) Frequent (79-30%) HP:0002161
24 decreased activity of nadph oxidase 60 33 frequent (33%) Frequent (79-30%) HP:0003206
25 stress/infection-induced lactic acidosis 60 33 frequent (33%) Frequent (79-30%) HP:0004897
26 aspiration pneumonia 60 33 frequent (33%) Frequent (79-30%) HP:0011951
27 spasticity 33 HP:0001257
28 tetraplegia 33 HP:0002445
29 encephalopathy 33 HP:0001298
30 cerebral atrophy 33 HP:0002059
31 abnormal involuntary eye movements 60 Frequent (79-30%)
32 abnormality of carnitine metabolism 60 Frequent (79-30%)
33 decreased plasma free carnitine 33 HP:0008315

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
nystagmus
cortical blindness
abnormal eye movements

Growth Other:
failure to thrive

Laboratory Abnormalities:
hyperlysinemia
increased lactate
decreased plasma free carnitine
increased c10:2-carnitine
abnormal urinary organic acids
more
Neurologic Central Nervous System:
seizures
spasticity
dystonia
choreoathetosis
encephalopathy
more
Head And Neck Head:
microcephaly

Muscle Soft Tissue:
hypotonia, neonatal

Clinical features from OMIM:

616034

UMLS symptoms related to 2,4-Dienoyl-Coa Reductase Deficiency:


seizures, muscle spasticity

Drugs & Therapeutics for 2,4-Dienoyl-Coa Reductase Deficiency

Search Clinical Trials , NIH Clinical Center for 2,4-Dienoyl-Coa Reductase Deficiency

Genetic Tests for 2,4-Dienoyl-Coa Reductase Deficiency

Genetic tests related to 2,4-Dienoyl-Coa Reductase Deficiency:

# Genetic test Affiliating Genes
1 2,4-Dienoyl-Coa Reductase Deficiency 30 NADK2

Anatomical Context for 2,4-Dienoyl-Coa Reductase Deficiency

MalaCards organs/tissues related to 2,4-Dienoyl-Coa Reductase Deficiency:

42
Eye

Publications for 2,4-Dienoyl-Coa Reductase Deficiency

Articles related to 2,4-Dienoyl-Coa Reductase Deficiency:

# Title Authors Year
1
Mitochondrial NADP(H) deficiency due to a mutation in NADK2 causes dienoyl-CoA reductase deficiency with hyperlysinemia. ( 24847004 )
2014
2
Mitochondrial 2,4-dienoyl-CoA reductase deficiency in mice results in severe hypoglycemia with stress intolerance and unimpaired ketogenesis. ( 19578400 )
2009

Variations for 2,4-Dienoyl-Coa Reductase Deficiency

ClinVar genetic disease variations for 2,4-Dienoyl-Coa Reductase Deficiency:

6 (show all 16)
# Gene Variation Type Significance SNP ID Assembly Location
1 NADK2 NM_001287341.1(NADK2): c.595C> T (p.Arg199Ter) single nucleotide variant Pathogenic rs587777772 GRCh38 Chromosome 5, 36200275: 36200275
2 NADK2 NM_001287341.1(NADK2): c.595C> T (p.Arg199Ter) single nucleotide variant Pathogenic rs587777772 GRCh37 Chromosome 5, 36200377: 36200377
3 NADK2 NM_001085411.2(NADK2): c.258G> A (p.Arg86=) single nucleotide variant Benign rs6891700 GRCh37 Chromosome 5, 36241643: 36241643
4 NADK2 NM_001085411.2(NADK2): c.258G> A (p.Arg86=) single nucleotide variant Benign rs6891700 GRCh38 Chromosome 5, 36241541: 36241541
5 NADK2 NM_001085411.2(NADK2): c.1104G> A (p.Pro368=) single nucleotide variant Benign rs79189380 GRCh38 Chromosome 5, 36197627: 36197627
6 NADK2 NM_001085411.2(NADK2): c.1104G> A (p.Pro368=) single nucleotide variant Benign rs79189380 GRCh37 Chromosome 5, 36197729: 36197729
7 NADK2 NM_001085411.2(NADK2): c.210G> T (p.Arg70=) single nucleotide variant Benign rs189482969 GRCh38 Chromosome 5, 36241589: 36241589
8 NADK2 NM_001085411.2(NADK2): c.210G> T (p.Arg70=) single nucleotide variant Benign rs189482969 GRCh37 Chromosome 5, 36241691: 36241691
9 NADK2 NM_001085411.2(NADK2): c.1A> G (p.Met1Val) single nucleotide variant Uncertain significance rs1277388010 GRCh37 Chromosome 5, 36241900: 36241900
10 NADK2 NM_001085411.2(NADK2): c.1A> G (p.Met1Val) single nucleotide variant Uncertain significance rs1277388010 GRCh38 Chromosome 5, 36241798: 36241798
11 NADK2 NM_001085411.2(NADK2): c.864T> C (p.Ala288=) single nucleotide variant Likely benign rs201029604 GRCh38 Chromosome 5, 36207262: 36207262
12 NADK2 NM_001085411.2(NADK2): c.864T> C (p.Ala288=) single nucleotide variant Likely benign rs201029604 GRCh37 Chromosome 5, 36207364: 36207364
13 DECR1 NM_001359.1(DECR1): c.77G> A (p.Ser26Asn) single nucleotide variant Likely benign rs145323335 GRCh37 Chromosome 8, 91029359: 91029359
14 DECR1 NM_001359.1(DECR1): c.77G> A (p.Ser26Asn) single nucleotide variant Likely benign rs145323335 GRCh38 Chromosome 8, 90017131: 90017131
15 NADK2 NM_001085411.2(NADK2): c.388C> T (p.Arg130Trp) single nucleotide variant Uncertain significance GRCh37 Chromosome 5, 36227580: 36227580
16 NADK2 NM_001085411.2(NADK2): c.388C> T (p.Arg130Trp) single nucleotide variant Uncertain significance GRCh38 Chromosome 5, 36227478: 36227478

Expression for 2,4-Dienoyl-Coa Reductase Deficiency

Search GEO for disease gene expression data for 2,4-Dienoyl-Coa Reductase Deficiency.

Pathways for 2,4-Dienoyl-Coa Reductase Deficiency

Pathways related to 2,4-Dienoyl-Coa Reductase Deficiency according to KEGG:

38
# Name Kegg Source Accession
1 Nicotinate and nicotinamide metabolism hsa00760

GO Terms for 2,4-Dienoyl-Coa Reductase Deficiency

Cellular components related to 2,4-Dienoyl-Coa Reductase Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mitochondrion GO:0005739 9.13 AASS DECR1 NADK2
2 mitochondrial matrix GO:0005759 8.8 AASS DECR1 NADK2

Biological processes related to 2,4-Dienoyl-Coa Reductase Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 oxidation-reduction process GO:0055114 8.62 AASS DECR1

Molecular functions related to 2,4-Dienoyl-Coa Reductase Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 oxidoreductase activity GO:0016491 8.62 AASS DECR1

Sources for 2,4-Dienoyl-Coa Reductase Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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