2,4-dienoyl-coa Reductase Deficiency; Decrd

Table of contents:

Description
Related genes
Clinical Features
Incidence and onset information
Alternative Names
Researches and researchers
Gene Panels
Sources and references

Description

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 (OMIM ) and AASS (OMIM ), resulting in increased C10:2-carnitine levels and hyperlysinemia (summary by Houten et al., 2014).

Genes related to 2,4-dienoyl-coa Reductase Deficiency; Decrd

NADK2

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Clinical Features

Top most frequent phenotypes and symptoms related to 2,4-dienoyl-coa Reductase Deficiency; Decrd

Seizures
Global developmental delay
Generalized hypotonia
Microcephaly
Nystagmus
Failure to thrive
Spasticity
Ventriculomegaly
Blindness
Hypertonia

And another 24 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
— No data available about the known clinical features onset.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.

2,4-dienoyl-coa Reductase Deficiency; Decrd Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Leukodystrophy / Leukencephalopathy and differential diagnoses Panel. By CeGaT GmbH (Germany). BCS1L, SCO2, SCP2, AIMP1, SDHA, SLC16A2, SLC17A5, SLC25A1, SLC25A12, SOX10, SPG11, STX11, STXBP2, SUCLA2, SURF1, ACOX1, TREX1, TUFM, TYROBP, MCOLN1 , (...) View the complete list with 155 more genes Panel complete gene list BCS1L, SCO2, SCP2, AIMP1, SDHA, SLC16A2, SLC17A5, SLC25A1, SLC25A12, SOX10, SPG11, STX11, STXBP2, SUCLA2, SURF1, ACOX1, TREX1, TUFM, TYROBP, MCOLN1, GFM1, NPC2, VPS11, LRPPRC, NDUFAF5, SAMHD1, BCAP31, MLC1, GJC2, TREM2, FKRP, SPART, RNASEH2A, NDUFAF1, KCNT1, IFIH1, PSAT1, POMGNT1, POMT2, ISCA2, AARS, POLR1C, CLCN2, NUBPL, SPG21, SUMF1, APOPT1, L2HGDH, ZFYVE26, TUBB4A, AARS2, FARS2, FA2H, RNASET2, COL4A1, COL4A2, ADAR, COX10, COX15, COX6B1, GMPPB, PEX26, UNC13D, NDUFA12, RNASEH2C, TACO1, CSF1R, MMACHC, FAM126A, DARS2, RNASEH2B, TTC19, CYP27A1, TMEM70, CTC1, HEPACAM, NADK2, CYP7B1, DARS, C12orf65, FOXRED1, IBA57, NDUFAF2, TBCK, D2HGDH, NDUFAF6, DDHD2, EARS2, PLEKHG2, MTFMT, POLR3A, PYCR2, POLR3B, TYMP, AGA, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, SDHAF1, ERCC2, ERCC3, ERCC6, ERCC8, ETFA, ETFB, ETFDH, FKTN, FOLR1, PET100, FUCA1, ALDH3A2, GALC, GAN, GBE1, GCDH, GFAP, GLA, GLB1, HEXA, HMGCL, HSD17B4, HSPD1, IDS, AP4E1, ABCD1, LAMA2, LARGE1, LMNB1, ARSA, MPV17, ASPA, NDUFA1, NDUFA2, NDUFA9, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS7, NDUFS8, NDUFV1, NEU1, NOTCH3, NPC1, OCLN, OCRL, PC, ATP7A, ATP7B, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX3, PEX6, PEX7, AUH, PHGDH, PHYH, PLA2G6, PLP1, POLG, POMT1, PRF1, HTRA1, PSAP, PEX19, PEX2, PEX5, RARS Specificity 1 % Genes 100 %
Invitae Fatty Acid Oxidation Defects Panel. By Invitae (United States). SLC22A5, SLC25A20, CPT1A, CPT2, NADK2, ETFA, ETFB, ETFDH, HADH, HADHA, HADHB, HMGCL, HMGCS2, MLYCD, ACADM, ACADS, ACADSB, ACADVL Specificity 6 % Genes 100 %

Panel Name, Specifity and genes Tested/covered

Leukodystrophy / Leukencephalopathy and differential diagnoses Panel.

By CeGaT GmbH (Germany).

BCS1L, SCO2, SCP2, AIMP1, SDHA, SLC16A2, SLC17A5, SLC25A1, SLC25A12, SOX10, SPG11, STX11, STXBP2, SUCLA2, SURF1, ACOX1, TREX1, TUFM, TYROBP, MCOLN1 , (...)

View the complete list with 155 more genes

Specificity
1 %

Genes
100 %