Autosomal Recessive Spastic Paraplegia Type 56

Table of contents:

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

Description

SPG56 is an autosomal recessive neurodegenerative disorder characterized by early-onset progressive lower-limb spasticity resulting in walking difficulties. Upper limbs are often also affected, and some patients may have a subclinical axonal neuropathy (summary by Tesson et al., 2012).For a general phenotypic description and a discussion of genetic heterogeneity of autosomal recessive spastic paraplegia, see {270800}.

Genes related to Autosomal Recessive Spastic Paraplegia Type 56

CYP2U1

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Clinical Features

Top most frequent phenotypes and symptoms related to Autosomal Recessive Spastic Paraplegia Type 56

Intellectual disability
Global developmental delay
Spasticity
Cognitive impairment
Motor delay
Peripheral neuropathy
Hyperreflexia
Hypoplasia of the corpus callosum
Dystonia
Babinski sign

And another 10 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.

Alternative names

Autosomal Recessive Spastic Paraplegia Type 56 Is also known as spg56.

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.

Autosomal Recessive Spastic Paraplegia Type 56 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Hereditary Spastic Paraplegia Panel. By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States). RTN2, SACS, SLC16A2, SLC2A1, KDM5C, SPG11, ATL1, SPAST, SPG7, TFG, ACOX1, TREX1, UCHL1, VAMP1, ERLIN2, CAPN1, BSCL2, SAMHD1, PNPLA6, ERLIN1 , (...) View the complete list with 59 more genes Panel complete gene list RTN2, SACS, SLC16A2, SLC2A1, KDM5C, SPG11, ATL1, SPAST, SPG7, TFG, ACOX1, TREX1, UCHL1, VAMP1, ERLIN2, CAPN1, BSCL2, SAMHD1, PNPLA6, ERLIN1, NIPA1, RAB3GAP2, BICD2, GJC2, EXOSC3, REEP2, SPART, CPT1C, IFIH1, GBA2, DDHD1, TECPR2, SPG21, CYP2U1, KLC2, ZFYVE26, TUBB3, TUBB4A, HACE1, FARS2, FA2H, AP5Z1, ADAR, VPS37A, C19orf12, RNASEH2B, PGAP1, REEP1, CYP7B1, ZFYVE27, C12orf65, WDR45, WASHC5, DDHD2, KIDINS220, ATP13A2, ENTPD1, B4GALNT1, ALS2, HSPD1, AP4B1, AP4E1, AP4M1, AP4S1, ABCD1, KIF1C, KIF5A, L1CAM, MAG, MARS, MECP2, NT5C2, OPA3, KIF1A, PLA2G6, PLP1, PQBP1, SLC33A1, ALDH18A1 Specificity 2 % Genes 100 %
Ataxia Exome Panel. By Genetic Services Laboratory University of Chicago (United States). BCS1L, RTN2, SACS, SCN1A, SCN2A, SCN8A, SCO1, SDHA, SDHD, SLC16A2, SLC17A5, SLC19A2, SLC1A3, SLC20A2, SLC2A1, SLC6A1, SLC9A1, SLC9A6, SNAP25, SOD1 , (...) View the complete list with 457 more genes Panel complete gene list BCS1L, RTN2, SACS, SCN1A, SCN2A, SCN8A, SCO1, SDHA, SDHD, SLC16A2, SLC17A5, SLC19A2, SLC1A3, SLC20A2, SLC2A1, SLC6A1, SLC9A1, SLC9A6, SNAP25, SOD1, SOX10, BTD, SPG11, ATL1, SPAST, SPG7, SPR, SPTAN1, SPTBN2, SQSTM1, CDKL5, STUB1, STXBP1, SUCLG1, SUOX, SURF1, TBCE, TWNK, TCF4, TCN2, TH, ACO2, TINF2, NKX2-1, TRPC3, TSFM, CEP41, TTPA, TTR, UBE3A, UCHL1, UQCRB, VAMP1, VARS, VLDLR, VRK1, WFS1, WWOX, XPA, XRCC4, YME1L1, ZIC1, SAMD9L, ATP8A2, ERLIN2, FBXL4, AAAS, PRX, CA8, CACNA1A, CACNA1G, PRDM8, CACNB4, PCDH19, SCYL1, ELOVL4, TMEM237, NPC2, CAPN1, PUM1, CASK, SNX14, CAV1, TSEN34, CHCHD10, LRPPRC, BSCL2, ABHD12, PANK2, NDUFAF5, APTX, SLC52A3, DNAJC5, TGM6, SLC19A3, PNPLA6, KIF1B, SCARB2, COQ8A, DGAT2, ERLIN1, PRICKLE1, NIPA1, MLC1, SYNE1, SLC39A4, RRM2B, TRNT1, TPK1, GJC2, PDSS1, TDP2, EXOSC3, FKRP, ADA2, NAXE, RNASEH1, SPART, CPT1C, COG4, RTN4IP1, PMPCA, ATPAF2, CAMTA1, NDUFAF1, TDP1, GBA2, NALCN, EBF3, POMGNT1, TTBK2, MECR, COQ4, DDHD1, POMT2, TECPR2, KIAA0586, CCDC88C, POLR1C, CLCN2, COQ6, NUBPL, CHAMP1, PRICKLE2, NDUFA11, SPG21, SUMF1, ZIC4, MBD5, APOPT1, L2HGDH, CYP2U1, TPP1, CLN5, ZFYVE26, TUBA1A, CLN6, TUBB4A, TUBB, CLN8, CLPP, AARS2, HACE1, NDUFAF4, FARS2, FA2H, ELOVL5, RARS2, INPP5E, AHI1, NHLRC1, RNASET2, RNF216, BRAT1, COL18A1, KCTD7, AP5Z1, COX10, COX15, COX6B1, GMPPB, CP, PEX26, PDSS2, SLC13A5, SYT14, ALG6, UBA5, ETHE1, NDUFA12, B9D1, BEAN1, PTRH2, TACO1, WDR62, TCTN3, SIL1, FLVCR1, CSTB, CEP104, CTBP1, OTUD4, CTDP1, TMEM216, MARS2, LRSAM1, TMEM240, SLC25A46, MMADHC, COQ2, CTSD, COQ9, CTSF, RNF170, ARL13B, C19orf12, ANO10, MTPAP, DARS2, CUL4B, CWF19L1, TTC21B, OFD1, TRAPPC11, TCTN2, REEP1, CPLANE1, POMGNT2, WDR73, PIGG, TTC19, CYP27A1, TMEM70, TCTN1, CTC1, CSPP1, PIEZO2, HEPACAM, UROC1, CYP7B1, WDR81, RNF168, CEP120, NAT8L, C12orf65, FOXRED1, TMEM138, COX20, DBT, DCX, IBA57, TSEN54, SLC6A19, NDUFAF2, TMEM107, COX14, VWA3B, TMEM67, TSEN2, MFSD8, NDUFAF6, DKC1, DLAT, DLD, ZNF592, RUBCN, CEP290, KIAA0556, IFT140, TELO2, ADSL, DDHD2, FASTKD2, RPGRIP1L, TBC1D24, CC2D2A, DMXL2, SH3TC2, ROGDI, KIDINS220, ARV1, UQCRQ, DYNC1H1, MTFMT, DNM2, DNMT1, DOCK3, NDUFAF3, PIK3R5, DPM1, POLR3A, ATP13A2, RFT1, SLC52A2, POLR3B, KIF7, PRRT2, SLC46A1, DNAJC19, SEPSECS, TYMP, AFG3L2, EEF2, EGR2, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, ENTPD1, EOMES, COA5, SDHAF1, EPM2A, ERCC3, ERCC4, ERCC5, ERCC6, ERCC8, FKTN, FGF12, FGF14, ISPD, FMR1, FOLR1, FOXG1, FXN, FTL, PET100, ALDH5A1, GABRB3, GALC, B4GALNT1, GAMT, GAN, GBE1, GCH1, GFAP, GJA1, GJB1, GLB1, GCLC, ALS2, GOSR2, SETX, GPI, AMACR, ADGRG1, GRID2, GRM1, GRN, GSS, ABCB7, HARS, HCN1, HERC1, HEXA, HEXB, HIBCH, HLCS, HNRNPH2, HSD17B4, HSPD1, AP1S2, AP4B1, AP4E1, AP4M1, AP4S1, ABCD1, ITM2B, ITPR1, KCNA1, KCNA2, KCNC1, KCNC3, KCND3, KCNJ10, KCNQ2, KIF1C, KIF5A, L1CAM, LAMA1, LARGE1, LIG4, LMNB1, LMNB2, LRP4, MAG, MAPK10, ARL6IP1, MECP2, MKS1, ARSA, MME, MPDU1, MPV17, MPZ, MRE11, ASL, MT-TP, MVK, ASS1, NDUFA1, NDUFA10, NDUFA2, NDUFA9, NDUFB3, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NEU1, NF2, ATCAY, NOL3, PNP, NPC1, NPHP1, ATM, ATP1A2, ATP1A3, NT5C2, NUP62, OPA1, OPA3, OPHN1, ATP2B3, OTC, PAX6, PC, ATP7B, PCNA, CHMP1A, PDE6D, PDHA1, PDHB, PDYN, PEX1, PEX10, PEX16, PEX7, KIF1A, PGK1, AUH, PGM3, PHYH, PLA2G6, PLP1, PMM2, PMP22, PNKD, PNKP, POLG, POMT1, CTSA, PPT1, PRF1, PRKCG, DNAJC3, PRNP, PRPS1, HTRA1, PSAP, SLC33A1, PSEN1, PTS, PEX2, ALDH18A1, BCKDHA, BCKDHB, RARS, RELN Specificity 1 % Genes 100 %
Spastic paraplegia type 56, AR (SPG56, sequence analysis of CYP2U1 gene). By CGC Genetics (Portugal). CYP2U1 Specificity 100 % Genes 100 %
Hereditary spastic paraplegia AR, X-linked (NGS panel for 33 genes). By CGC Genetics (Portugal). SPG11, SPG7, TFG, ERLIN2, PNPLA6, GJC2, SPART, GBA2, DDHD1, TECPR2, SPG21, CYP2U1, ZFYVE26, FA2H, AP5Z1, VPS37A, C19orf12, CYP7B1, C12orf65, DDHD2 , (...) View the complete list with 13 more genes Panel complete gene list SPG11, SPG7, TFG, ERLIN2, PNPLA6, GJC2, SPART, GBA2, DDHD1, TECPR2, SPG21, CYP2U1, ZFYVE26, FA2H, AP5Z1, VPS37A, C19orf12, CYP7B1, C12orf65, DDHD2, ENTPD1, B4GALNT1, AMPD2, AP4B1, AP4E1, AP4M1, AP4S1, L1CAM, ARL6IP1, NT5C2, KIF1A, PLP1, SLC33A1 Specificity 4 % Genes 100 %
Hereditary spastic paraplegia (NGS panel for 43 genes). By CGC Genetics (Portugal). RTN2, SPG11, ATL1, SPAST, SPG7, TFG, ERLIN2, BSCL2, PNPLA6, NIPA1, GJC2, SPART, GBA2, DDHD1, TECPR2, SPG21, CYP2U1, ZFYVE26, FA2H, AP5Z1 , (...) View the complete list with 23 more genes Panel complete gene list RTN2, SPG11, ATL1, SPAST, SPG7, TFG, ERLIN2, BSCL2, PNPLA6, NIPA1, GJC2, SPART, GBA2, DDHD1, TECPR2, SPG21, CYP2U1, ZFYVE26, FA2H, AP5Z1, VPS37A, C19orf12, REEP1, CYP7B1, ZFYVE27, C12orf65, WASHC5, DDHD2, ENTPD1, B4GALNT1, AMPD2, HSPD1, AP4B1, AP4E1, AP4M1, AP4S1, KIF5A, L1CAM, ARL6IP1, NT5C2, KIF1A, PLP1, SLC33A1 Specificity 3 % Genes 100 %
Pure Hereditary Spastic Paraplegia Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics (United States). RTN2, SPG11, ATL1, SPAST, SPG7, CAPN1, ERLIN1, NIPA1, BICD2, ZFR, REEP2, CPT1C, DDHD1, CYP2U1, ZFYVE26, FARS2, AP5Z1, REEP1, CYP7B1, ZFYVE27 , (...) View the complete list with 9 more genes Panel complete gene list RTN2, SPG11, ATL1, SPAST, SPG7, CAPN1, ERLIN1, NIPA1, BICD2, ZFR, REEP2, CPT1C, DDHD1, CYP2U1, ZFYVE26, FARS2, AP5Z1, REEP1, CYP7B1, ZFYVE27, WASHC5, HSPD1, KIF1C, KIF5A, NT5C2, ATP2B4, KIF1A, PLP1, SLC33A1 Specificity 4 % Genes 100 %
Complex Hereditary Spastic Paraplegia Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics (United States). SACS, SLC16A2, KDM5C, SPG11, ATL1, SPAST, SPG7, TFG, UCHL1, USP8, VCP, ERLIN2, CAPN1, BSCL2, CCT5, PNPLA6, NIPA1, RAB3GAP2, BICD2, GJC2 , (...) View the complete list with 50 more genes Panel complete gene list SACS, SLC16A2, KDM5C, SPG11, ATL1, SPAST, SPG7, TFG, UCHL1, USP8, VCP, ERLIN2, CAPN1, BSCL2, CCT5, PNPLA6, NIPA1, RAB3GAP2, BICD2, GJC2, EXOSC3, SPART, GBA2, LYST, DDHD1, TECPR2, SPG21, CYP2U1, ZFYVE26, TUBB4A, HACE1, FA2H, AP5Z1, VPS37A, C19orf12, PGAP1, REEP1, CYP7B1, UNC80, DARS, C12orf65, IBA57, WASHC5, DSTYK, DDHD2, KIDINS220, ATP13A2, WDR48, ARSI, ENTPD1, GAD1, B4GALNT1, ALS2, AMPD2, AP4B1, AP4E1, AP4M1, AP4S1, ABCD1, KIF1C, KIF5A, L1CAM, MAG, MARS, ARL6IP1, NT5C2, ATRX, KIF1A, PLP1, ALDH18A1 Specificity 2 % Genes 100 %
Hereditary Spastic Paraplegia Comprehensive Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics (United States). RTN2, SACS, SLC16A2, KDM5C, SPG11, ATL1, SPAST, SPG7, TFG, UCHL1, USP8, VCP, ERLIN2, CAPN1, BSCL2, CCT5, PNPLA6, ERLIN1, NIPA1, RAB3GAP2 , (...) View the complete list with 60 more genes Panel complete gene list RTN2, SACS, SLC16A2, KDM5C, SPG11, ATL1, SPAST, SPG7, TFG, UCHL1, USP8, VCP, ERLIN2, CAPN1, BSCL2, CCT5, PNPLA6, ERLIN1, NIPA1, RAB3GAP2, BICD2, ZFR, GJC2, EXOSC3, REEP2, SPART, CPT1C, GBA2, LYST, DDHD1, TECPR2, SPG21, CYP2U1, ZFYVE26, TUBB4A, HACE1, FARS2, FA2H, AP5Z1, VPS37A, C19orf12, PGAP1, REEP1, CYP7B1, ZFYVE27, UNC80, DARS, C12orf65, IBA57, WASHC5, DSTYK, DDHD2, KIDINS220, ATP13A2, WDR48, ARSI, ENTPD1, GAD1, B4GALNT1, ALS2, AMPD2, HSPD1, AP4B1, AP4E1, AP4M1, AP4S1, ABCD1, KIF1C, KIF5A, L1CAM, MAG, MARS, ARL6IP1, NT5C2, ATP2B4, ATRX, KIF1A, PLP1, SLC33A1, ALDH18A1 Specificity 2 % Genes 100 %

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Sources and references

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