DECRD
MCID: 24D001
MIFTS: 32

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 57 53 59 74 37 29 6 40 72
Decrd 57 74
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

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:
Clinical modifier death in infancy
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 616034
KEGG 37 H01929
ICD10 via Orphanet 34 G31.8
UMLS via Orphanet 73 C1857252
Orphanet 59 ORPHA431361
UMLS 72 C1857252

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 lactic acidosis, 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 : 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.

KEGG : 37
Dienoyl-CoA reductase (DECR) deficiency with hyperlysinemia is a rare disorder affecting the metabolism of polyunsaturated fatty acids and lysine. Patients are with failure to thrive, developmental delay, lactic acidosis and severe encephalopathy suggestive of a mitochondrial disorder. A causal mutation in NADK2, that encodes the mitochondrial NAD kinase, has been revealed.

UniProtKB/Swiss-Prot : 74 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 : 75 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 28.5 NADK2 DECR1 AASS
2 lactic acidosis 10.4
3 fatty liver disease, nonalcoholic 1 10.4
4 hypoglycemia 10.4

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

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 abnormal basal ganglia mri signal intensity 59 32 frequent (33%) Frequent (79-30%) HP:0012751
12 progressive encephalopathy 59 32 frequent (33%) Frequent (79-30%) HP:0002448
13 cerebellar atrophy 59 32 frequent (33%) Frequent (79-30%) HP:0001272
14 hypoplasia of the corpus callosum 59 32 frequent (33%) Frequent (79-30%) HP:0002079
15 leukodystrophy 59 32 frequent (33%) Frequent (79-30%) HP:0002415
16 progressive spastic quadriplegia 59 32 frequent (33%) Frequent (79-30%) HP:0002478
17 renal tubular acidosis 59 32 frequent (33%) Frequent (79-30%) HP:0001947
18 cerebral visual impairment 59 32 frequent (33%) Frequent (79-30%) HP:0100704
19 decreased plasma carnitine 59 32 frequent (33%) Frequent (79-30%) HP:0003234
20 central sleep apnea 59 32 frequent (33%) Frequent (79-30%) HP:0010536
21 nonprogressive cerebellar ataxia 59 32 frequent (33%) Frequent (79-30%) HP:0002470
22 organic aciduria 59 32 frequent (33%) Frequent (79-30%) HP:0001992
23 aspiration pneumonia 59 32 frequent (33%) Frequent (79-30%) HP:0011951
24 hyperlysinemia 59 32 frequent (33%) Frequent (79-30%) HP:0002161
25 decreased activity of nadph oxidase 59 32 frequent (33%) Frequent (79-30%) HP:0003206
26 stress/infection-induced lactic acidosis 59 32 frequent (33%) Frequent (79-30%) HP:0004897
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

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
decreased plasma free carnitine
increased lactate
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 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 PMID Year
1
Mitochondrial NADP(H) deficiency due to a mutation in NADK2 causes dienoyl-CoA reductase deficiency with hyperlysinemia. 8 71
24847004 2014
2
2,4-Dienoyl-coenzyme A reductase deficiency: a possible new disorder of fatty acid oxidation. 8
2332510 1990
3
Clinical heterogeneity of mitochondrial NAD kinase deficiency caused by a NADK2 start loss variant. 38
29388319 2018
4
Mitochondrial 2,4-dienoyl-CoA reductase deficiency in mice results in severe hypoglycemia with stress intolerance and unimpaired ketogenesis. 38
19578400 2009
5
[2,4-Dienoyl-CoA reductase deficiency]. 38
9590086 1998

Variations for 2,4-Dienoyl-Coa Reductase Deficiency

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

6 (show all 12)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 NADK2 NM_001287341.1(NADK2): c.595C> T (p.Arg199Ter) single nucleotide variant Pathogenic rs587777772 5:36200377-36200377 5:36200275-36200275
2 NADK2 NM_001287341.1(NADK2): c.-102C> T single nucleotide variant Uncertain significance 5:36227580-36227580 5:36227478-36227478
3 DECR1 NM_001359.2(DECR1): c.202G> A (p.Gly68Ser) single nucleotide variant Uncertain significance 8:91029484-91029484 8:90017256-90017256
4 NADK2 NM_001287341.1(NADK2): c.72G> A (p.Arg24=) single nucleotide variant Uncertain significance 5:36219781-36219781 5:36219679-36219679
5 NADK2 NM_001287341.1(NADK2): c.-190+396_-190+397delinsAT indel Uncertain significance 5:36241801-36241802 5:36241699-36241700
6 NADK2 NM_001287341.1(NADK2): c.-190+345G> A single nucleotide variant Uncertain significance 5:36241853-36241853 5:36241751-36241751
7 NADK2 NM_001287341.1(NADK2): c.-190+298A> G single nucleotide variant Uncertain significance rs1277388010 5:36241900-36241900 5:36241798-36241798
8 NADK2 NM_001287341.1(NADK2): c.441T> C (p.Ala147=) single nucleotide variant Likely benign rs201029604 5:36207364-36207364 5:36207262-36207262
9 DECR1 NM_001359.2(DECR1): c.77G> A (p.Ser26Asn) single nucleotide variant Likely benign rs145323335 8:91029359-91029359 8:90017131-90017131
10 NADK2 NM_001287341.1(NADK2): c.-190+555G> A single nucleotide variant Benign rs6891700 5:36241643-36241643 5:36241541-36241541
11 NADK2 NM_001287341.1(NADK2): c.681G> A (p.Pro227=) single nucleotide variant Benign rs79189380 5:36197729-36197729 5:36197627-36197627
12 NADK2 NM_001287341.1(NADK2): c.-190+507G> T single nucleotide variant Benign rs189482969 5:36241691-36241691 5:36241589-36241589

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 NADK2 DECR1 AASS
2 mitochondrial matrix GO:0005759 8.8 NADK2 DECR1 AASS

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 DECR1 AASS

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 DECR1 AASS

Sources for 2,4-Dienoyl-Coa Reductase Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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