Combined D-2- And L-2-hydroxyglutaric Aciduria; D2l2ad

Table of contents:

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

Description

Combined D-2- and L-2-hydroxyglutaric aciduria (D-2-HG and L-2-HG) is an autosomal recessive neurometabolic disorder characterized by neonatal-onset encephalopathy with severe muscular weakness, intractable seizures, respiratory distress, and lack of psychomotor development resulting in early death. Brain imaging shows abnormalities including enlarged ventricles, delayed myelination, and germinal layer cysts (summary by Muntau et al., 2000).See also isolated L-2-hydroxyglutaric aciduria (OMIM ) and isolated D-2-hydroxyglutaric aciduria (see {600721}).

Genes related to Combined D-2- And L-2-hydroxyglutaric Aciduria; D2l2ad

SLC25A1

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Clinical Features

Top most frequent phenotypes and symptoms related to Combined D-2- And L-2-hydroxyglutaric Aciduria; D2l2ad

Seizures
Global developmental delay
Generalized hypotonia
Microcephaly
Neoplasm
Muscle weakness
Feeding difficulties
Hepatomegaly
Macrocephaly
Ventriculomegaly

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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.

Combined D-2- And L-2-hydroxyglutaric Aciduria; D2l2ad Recommended genes panels

Panel Name, Specifity and genes Tested/covered
D-2- and L-2-Hydroxyglutaric Aciduria Sequencing Panel. By Genetic Services Laboratory University of Chicago (United States). SLC25A1, L2HGDH, D2HGDH Specificity 34 % Genes 100 %
Non-Specific Intellectual Disability Panel. By Genetic Services Laboratory University of Chicago (United States). RPS6KA3, CLIP1, SCN2A, ST3GAL3, SLC16A2, SLC25A1, SLC6A8, SLC9A6, SMARCA4, SMARCB1, ARID1A, SMC1A, KDM5C, SMS, SOX11, CDKL5, STXBP1, SYN1, SYNGAP1, SYP , (...) View the complete list with 153 more genes Panel complete gene list RPS6KA3, CLIP1, SCN2A, ST3GAL3, SLC16A2, SLC25A1, SLC6A8, SLC9A6, SMARCA4, SMARCB1, ARID1A, SMC1A, KDM5C, SMS, SOX11, CDKL5, STXBP1, SYN1, SYNGAP1, SYP, TAF2, TCF4, TSPAN7, MED12, UBE2A, UBE3A, EZR, VLDLR, ZNF41, ZNF711, ZNF81, FTSJ1, KIF4A, NSDHL, ERLIN2, CTCF, CA8, CNTNAP2, CACNG2, FMN2, PCDH19, NLGN4X, NLGN3, SHANK3, SHANK2, ARHGEF9, DEAF1, ZEB2, CASK, ADNP, PCNT, RAB39B, FBXO31, ZMYND11, BRWD3, CDH15, ZNF674, ARID1B, ARX, PHF6, ATP6AP2, ZDHHC9, NAA10, ZNF407, ZDHHC15, UPF3B, MBD5, L2HGDH, ZC3H14, CLIC2, PHF8, TUBA1A, BCOR, VPS13B, ALG6, KIRREL3, CRADD, MED23, EHMT1, CTNNB1, ADAT3, CUL4B, SETD5, OFD1, PGAP1, NSUN2, TTI2, PTCHD1, METTL23, DCX, D2HGDH, MAGT1, CCDC22, FRMPD4, DLG3, IQSEC2, DDHD2, WASHC4, SHROOM4, SOBP, ZNF526, NEXMIF, C12orf57, DYNC1H1, DNMT3A, PACS1, CRBN, CC2D1A, TUSC3, SRPX2, GATAD2B, TRAPPC9, HUWE1, DYRK1A, LINS1, SLC6A17, EIF2S3, EPB41L1, AGTR2, ACSL4, FLNA, FMR1, AFF2, FOXG1, FOXP1, ALDH5A1, GDI1, TECR, GRIA3, GRIK2, GRIN1, GRIN2A, GRIN2B, HSD17B10, HCFC1, ANK3, HPRT1, IDH2, IGBP1, AP1S2, AP4B1, AP4E1, AP4M1, AP4S1, IL1RAPL1, KCNJ10, KLF8, KPTN, L1CAM, LRP2, MAN1B1, MAOA, ARHGEF6, MECP2, MEF2C, MID1, MID2, NDST1, NHS, NRXN1, NRXN2, OCRL, OPHN1, PAK3, PDHA1, ATRX, KIF1A, PLP1, PQBP1, PRPS1, PRSS12, PURA, RAI1 Specificity 1 % Genes 100 %
Autosomal Recessive Non-Specific Intellectual Disability Panel. By Genetic Services Laboratory University of Chicago (United States). ST3GAL3, SLC25A1, STXBP1, VLDLR, ERLIN2, CA8, CNTNAP2, ARFGEF2, PCNT, L2HGDH, ZC3H14, VPS13B, ALG6, MED23, NSUN2, D2HGDH, DDHD2, ZNF526, C12orf57, CRBN , (...) View the complete list with 16 more genes Panel complete gene list ST3GAL3, SLC25A1, STXBP1, VLDLR, ERLIN2, CA8, CNTNAP2, ARFGEF2, PCNT, L2HGDH, ZC3H14, VPS13B, ALG6, MED23, NSUN2, D2HGDH, DDHD2, ZNF526, C12orf57, CRBN, CC2D1A, TUSC3, TRAPPC9, LINS1, TECR, GRIK2, IDH2, AP4B1, AP4E1, AP4M1, AP4S1, KCNJ10, LRP2, MAN1B1, NRXN1, PRSS12 Specificity 3 % Genes 100 %
SLC25A1 sequencing. By Genetic Services Laboratory University of Chicago (United States). SLC25A1 Specificity 100 % Genes 100 %
D-2 and L-2 Hydroxyglutaric Aciduria Deletion/Duplication Panel. By Genetic Services Laboratory University of Chicago (United States). SLC25A1, L2HGDH, D2HGDH, IDH2 Specificity 25 % Genes 100 %
SLC25A1 Deletion/Duplication Analysis. By Genetic Services Laboratory University of Chicago (United States). SLC25A1 Specificity 100 % Genes 100 %
Organic Aciduria Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics (United States). SLC25A1, CD320, MCEE, MMAA, MMAB, L2HGDH, MMACHC, MMADHC, DBT, ACSF3, D2HGDH, DLD, ETFA, ETFB, ETFDH, GCDH, HLCS, IDH2, IVD, MCCC1 , (...) View the complete list with 9 more genes Panel complete gene list SLC25A1, CD320, MCEE, MMAA, MMAB, L2HGDH, MMACHC, MMADHC, DBT, ACSF3, D2HGDH, DLD, ETFA, ETFB, ETFDH, GCDH, HLCS, IDH2, IVD, MCCC1, MCCC2, MLYCD, ALDH6A1, MMUT, PCCA, PCCB, ACAT1, BCKDHA, BCKDHB Specificity 4 % Genes 100 %
Leukodystrophy and Leukoencephalopathy Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics (United States). SCP2, AIMP1, SDHB, SLC16A2, SLC17A5, SLC25A1, SLC25A12, SLC25A4, SOX10, SPG11, SPG7, SUCLA2, SURF1, TWNK, ACOX1, TREX1, TUFM, TYROBP, WARS2, MCOLN1 , (...) View the complete list with 135 more genes Panel complete gene list SCP2, AIMP1, SDHB, SLC16A2, SLC17A5, SLC25A1, SLC25A12, SLC25A4, SOX10, SPG11, SPG7, SUCLA2, SURF1, TWNK, ACOX1, TREX1, TUFM, TYROBP, WARS2, MCOLN1, GFM1, MRPS22, NPC2, JAM3, SAMHD1, SLC19A3, NFU1, BCAP31, MLC1, RRM2B, GJC2, TREM2, SPART, RNASEH2A, ISCA2, POLR1C, CLCN2, NUBPL, SUMF1, APOPT1, L2HGDH, CYP2U1, ZFYVE26, TUBB4A, CLPP, AARS2, FARS2, FA2H, RNASET2, RNF216, COL4A1, COL4A2, ADAR, COX10, COX15, PEX26, RNASEH2C, CSF1R, BOLA3, FAM126A, MARS2, COQ2, COQ9, DARS2, RNASEH2B, DCAF17, CYP27A1, CTC1, HEPACAM, CYP7B1, DAG1, DARS, IBA57, LYRM7, D2HGDH, DGUOK, ADSL, EARS2, MTFMT, DNM1L, POLR3A, POLR3B, TYMP, AGA, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, SDHAF1, ERCC6, ERCC8, ETFA, ETFB, ETFDH, FH, FOLR1, FUCA1, ALDH3A2, ALDH5A1, GALC, GALT, GAN, GBE1, GCDH, GFAP, GJA1, GJB1, GLA, GLB1, ADGRG1, HEXA, HMGCL, HSD17B4, HSPD1, IDH2, IDS, ABCD1, LMNB1, ARSA, MOCS1, ASPA, NDUFS1, NDUFS2, NDUFS4, NDUFS8, NDUFV1, NOTCH3, NPC1, OCLN, OCRL, OTC, PAH, PC, ATP7A, ATP7B, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX3, PEX6, PLP1, POLG, CTSA, PPT1, HTRA1, PSAP, PEX19, PEX2, PEX5, RARS Specificity 1 % Genes 100 %

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Sources and references

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ORPHANET OMIM Rare Disease Search Engine

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