MCID: 24D001
MIFTS: 30

2,4-Dienoyl-Coa Reductase Deficiency

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Metabolic 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 57 53 59 75 37 29 6 40 73
Decrd 57 75
Progressive Encephalopathy with Leukodystrophy Due to Decr Deficiency 59
2,4-Alpha Dienoyl-Coa Reductase Deficiency 53
Decr Deficiency with Hyperlysinemia 59
Dienoyl-Coa Reductase Deficiency 53
2,4-Dienoyl Coa Reductase 13

Characteristics:

Orphanet epidemiological data:

59
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:

57
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:

32
2,4-dienoyl-coa reductase deficiency:
Mortality/Aging death in infancy
Inheritance autosomal recessive inheritance


Classifications:



Summaries for 2,4-Dienoyl-Coa Reductase Deficiency

OMIM : 57 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 has symptoms including muscle spasticity and seizures. 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 : 53 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 : 75 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 : 76 2,4 Dienoyl-CoA reductase also known as DECR1 is a protein 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 8.2 AASS DECR1 NADK2

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

Symptoms via clinical synopsis from OMIM:

57
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

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

59 32 (show all 33)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nystagmus 59 32 frequent (33%) Frequent (79-30%) HP:0000639
2 seizures 59 32 frequent (33%) Frequent (79-30%) HP:0001250
3 failure to thrive 59 32 frequent (33%) Frequent (79-30%) HP:0001508
4 global developmental delay 59 32 frequent (33%) Frequent (79-30%) HP:0001263
5 microcephaly 59 32 frequent (33%) Frequent (79-30%) HP:0000252
6 neonatal hypotonia 59 32 frequent (33%) Frequent (79-30%) HP:0001319
7 dystonia 59 32 frequent (33%) Frequent (79-30%) HP:0001332
8 pancreatitis 59 32 frequent (33%) Frequent (79-30%) HP:0001733
9 ventriculomegaly 59 32 frequent (33%) Frequent (79-30%) HP:0002119
10 choreoathetosis 59 32 frequent (33%) Frequent (79-30%) HP:0001266
11 progressive encephalopathy 59 32 frequent (33%) Frequent (79-30%) HP:0002448
12 cerebellar atrophy 59 32 frequent (33%) Frequent (79-30%) HP:0001272
13 hypoplasia of the corpus callosum 59 32 frequent (33%) Frequent (79-30%) HP:0002079
14 progressive spastic quadriplegia 59 32 frequent (33%) Frequent (79-30%) HP:0002478
15 leukodystrophy 59 32 frequent (33%) Frequent (79-30%) HP:0002415
16 renal tubular acidosis 59 32 frequent (33%) Frequent (79-30%) HP:0001947
17 cortical visual impairment 59 32 frequent (33%) Frequent (79-30%) HP:0100704
18 central sleep apnea 59 32 frequent (33%) Frequent (79-30%) HP:0010536
19 nonprogressive cerebellar ataxia 59 32 frequent (33%) Frequent (79-30%) HP:0002470
20 organic aciduria 59 32 frequent (33%) Frequent (79-30%) HP:0001992
21 decreased plasma carnitine 59 32 frequent (33%) Frequent (79-30%) HP:0003234
22 abnormal basal ganglia mri signal intensity 59 32 frequent (33%) Frequent (79-30%) HP:0012751
23 hyperlysinemia 59 32 frequent (33%) Frequent (79-30%) HP:0002161
24 decreased activity of nadph oxidase 59 32 frequent (33%) Frequent (79-30%) HP:0003206
25 stress/infection-induced lactic acidosis 59 32 frequent (33%) Frequent (79-30%) HP:0004897
26 aspiration pneumonia 59 32 frequent (33%) Frequent (79-30%) HP:0011951
27 spasticity 32 HP:0001257
28 tetraplegia 32 HP:0002445
29 encephalopathy 32 HP:0001298
30 cerebral atrophy 32 HP:0002059
31 abnormal involuntary eye movements 59 Frequent (79-30%)
32 abnormality of carnitine metabolism 59 Frequent (79-30%)
33 decreased plasma free carnitine 32 HP:0008315

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


muscle spasticity, seizures

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 29 NADK2

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

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

41
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

Variations for 2,4-Dienoyl-Coa Reductase Deficiency

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

6
(show all 14)
# 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 GRCh37 Chromosome 5, 36197729: 36197729
6 NADK2 NM_001085411.2(NADK2): c.1104G> A (p.Pro368=) single nucleotide variant Benign rs79189380 GRCh38 Chromosome 5, 36197627: 36197627
7 NADK2 NM_001085411.2(NADK2): c.210G> T (p.Arg70=) single nucleotide variant Benign rs189482969 GRCh37 Chromosome 5, 36241691: 36241691
8 NADK2 NM_001085411.2(NADK2): c.210G> T (p.Arg70=) single nucleotide variant Benign rs189482969 GRCh38 Chromosome 5, 36241589: 36241589
9 NADK2 NM_001085411.2(NADK2): c.1A> G (p.Met1Val) single nucleotide variant Uncertain significance GRCh37 Chromosome 5, 36241900: 36241900
10 NADK2 NM_001085411.2(NADK2): c.1A> G (p.Met1Val) single nucleotide variant Uncertain significance 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

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:

37
# 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 8.96 AASS DECR1
2 metabolic process GO:0008152 8.62 AASS NADK2

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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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