Autosomal Recessive Spastic Paraplegia Type 23

Table of contents:

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

Description

Autosomal recessive spastic paraplegia type 23 (SPG23) is a rare, complex type of hereditary spastic paraplegia that presents in childhood with progressive spastic paraplegia, associated with peripheral neuropathy, skin pigment abnormalities (i.e. vitiligo, hyperpigmentation, diffuse lentigines), premature graying of hair, and characteristic facies (i.e. thin with ''sharp'' features). The SPG23 phenotype has been mapped to a locus on chromosome 1q24-q32.

Genes related to Autosomal Recessive Spastic Paraplegia Type 23

SPG23
DSTYK

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Clinical Features

Top most frequent phenotypes and symptoms related to Autosomal Recessive Spastic Paraplegia Type 23

Seizures
Short stature
Microcephaly
Ataxia
Micrognathia
Spasticity
Cognitive impairment
Flexion contracture
Peripheral neuropathy
Hyperreflexia

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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 23 Is also known as spastic paraparesis-vitiligo-premature graying-characteristic facies syndrome, lison syndrome, spg23, spastic paraparesis, vitiligo, premature graying, characteristic facies, spastic paraplegia with pigmentary abnormalities.

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 23 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Congenital Abnormalities of the Kidney and Urinary Tract (CAKUT) Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics (United States). ROBO2, SALL1, BMP4, BMP7, SIX1, SIX2, SIX5, SOX11, TBX18, HNF1B, UMOD, UPK3A, WNT4, TRAP1, SRGAP1, CDC5L, SOX17, HPSE2, GRIP1, CHD1L , (...) View the complete list with 27 more genes Panel complete gene list ROBO2, SALL1, BMP4, BMP7, SIX1, SIX2, SIX5, SOX11, TBX18, HNF1B, UMOD, UPK3A, WNT4, TRAP1, SRGAP1, CDC5L, SOX17, HPSE2, GRIP1, CHD1L, FRAS1, FAT4, FREM1, FREM2, NIPBL, DSTYK, GREB1L, AGTR1, EYA1, FGF20, FGFR2, FOXP1, GATA3, GLI2, GLI3, HOXA13, HOXA4, HOXB6, ITGA8, LIFR, LRP4, MUC1, MYH9, PAX2, PBX1, REN, RET Specificity 3 % Genes 50 %
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 50 %
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 50 %
Congenital Anomalies of Kidney and Urinary Tract (CAKUT) via DSTYK Gene Sequencing with CNV Detection. By PreventionGenetics PreventionGenetics (United States). DSTYK Specificity 100 % Genes 50 %
Hereditary kidney disorders - different panels. By Institute of Human Genetics Uniklinik RWTH Aachen (Germany). BCS1L, ROBO2, CNNM2, CFB, SALL1, ATXN10, SCNN1A, SCNN1B, SCNN1G, SDCCAG8, SDHA, SDHB, SDHC, SDHD, BMP4, BMP7, SGPL1, SIX1, SIX2, SIX5 , (...) View the complete list with 386 more genes Panel complete gene list BCS1L, ROBO2, CNNM2, CFB, SALL1, ATXN10, SCNN1A, SCNN1B, SCNN1G, SDCCAG8, SDHA, SDHB, SDHC, SDHD, BMP4, BMP7, SGPL1, SIX1, SIX2, SIX5, SLC12A1, SLC12A3, SLC22A5, SLC25A13, SLC26A1, SLC2A2, SLC34A1, SLC3A1, SLC4A4, SLC5A2, SLC7A7, SLC7A9, SLC9A3R1, SMARCAL1, SOX18, STX16, SUCLA2, SUCLG1, TALDO1, TBC1D1, TBX18, HNF1A, HNF1B, THBD, TNXB, TRPC6, TSC1, TSC2, CEP41, UMOD, UPK3A, UROD, VDR, VHL, VPS33B, WNT4, WT1, XDH, IKZF1, C3, ARL6, NEK8, NPHS2, SLC2A9, IFT122, ADAMTS13, CA2, CACNA1D, CACNA1H, ANLN, CD2AP, TMEM237, WNK1, WNK4, CASR, CBS, IFT52, SALL4, TRAP1, CD19, MAGED2, TRIM32, BSND, ACTN4, SCARB2, ZNF423, CDC73, CFHR4, CFHR3, CD81, DICER1, PLCE1, RRM2B, LRBA, CDC5L, KAT6B, XPO5, SARS2, TNFRSF13C, CDKN1B, INVS, CEP83, SLC22A12, TRPM6, SLC22A10, SOX17, DCDC2, TNFRSF13B, MOCOS, SEC61A1, WDR19, HPSE2, IFT27, NUP205, CRB2, GRIP1, BBS7, SLC36A2, MMAA, COQ8B, NPHP4, CHD1L, KIF14, FRAS1, KANK1, MMAB, BICC1, SLC41A1, SBDS, CHRM3, EIF2AK4, EVC2, KIAA0586, GREM1, TTC8, TMEM260, CLCN5, COQ6, CLCNKA, CLCNKB, SLC34A3, CLDN10, CLDN16, CLDN19, APOPT1, LRIG2, SERAC1, SEC63, RMND1, IFT74, INPP5E, AHI1, WDR60, COL4A1, COL4A3, COL4A4, COL4A5, COX10, COX6B1, PEX26, LMBRD1, PDSS2, SLC16A12, ALG8, CR2, FREM1, INF2, B9D1, TACO1, TCTN3, MMACHC, DYNC2LI1, CFHR5, KANK3, CEP104, TMEM216, HOGA1, CTNS, MMADHC, COQ2, ARHGAP24, FREM2, ARL13B, CUBN, CUL3, TTC21B, OFD1, TCTN2, CPLANE1, CYP11B1, CYP11B2, WDR73, CYP17A1, CYP24A1, SDHAF2, TMEM127, TCTN1, CSPP1, BBS10, BBS12, CEP120, ANKS6, TMEM138, KANK4, FLCN, SLC6A19, WDPCP, XPNPEP3, BBIP1, CCDC28B, WDR34, TMEM67, CCNQ, GLIS3, DGKE, DHCR7, B9D2, DIS3L2, MAGT1, IQCB1, NUP93, CEP290, DSTYK, KIAA0556, IFT140, FASTKD2, RPGRIP1L, FAN1, CEP164, TBC1D24, WDR35, CC2D2A, IFT80, KANK2, DMP1, GLIS2, MAPKBP1, DYNC2H1, IFT43, NUP107, BBS9, SLC26A3, IFT172, KIF7, STRA6, POC1B, SLC6A20, EGF, EHHADH, EIF2AK3, EMP2, ENPP1, AGTR1, AGTR2, COA5, AGXT, ETFA, ETFB, ETFDH, EVC, EYA1, FAH, FAT1, FGA, FGF20, FGF23, FH, TMEM231, FN1, ALAD, FXYD2, G6PC, GALNT3, GALT, GANAB, GATA3, GCDH, GCM2, ALMS1, GLA, GLB1, GNAS, GRHPR, GUCY2C, HADHA, HADHB, CFH, CFHR1, CFHR2, HMBS, HMGCL, HNF4A, HPRT1, HRAS, HSD11B2, ICOS, CFI, IL21, ITGA3, ITGA8, APOL1, JAG1, JAK3, ANOS1, KCNA1, KCNJ1, KCNJ10, APRT, KCNJ5, KCNMB1, AQP2, KL, KLHL3, MAFB, LAMA5, LAMB2, LAMC1, LCAT, LIFR, ARG1, LMX1B, LRP2, LRP4, LRP5, LYZ, LZTFL1, ARHGDIA, ABCD4, MAGEC1, MAX, CD46, MEFV, MEN1, MET, MKKS, MKS1, MPL, MS4A1, ASL, MUC1, MMUT, MVK, MYH9, ASS1, MYO1E, NEK1, NF1, NF2, NFKB1, NFKB2, NOTCH2, NPC1, NPHP1, NPHP3, NPHS1, NR3C2, NRIP1, OCRL, OTC, ATP6V1B1, PAX2, PAX6, PCBD1, PCCA, PCCB, ATP6V0A4, ATP7B, PDE3A, PDE6D, PEX1, PEX10, PEX11B, PEX13, PEX14, PEX16, PEX3, PEX6, PEX7, PGAM2, PGK1, AUH, PHEX, AVPR2, PIK3CA, PKD1, PKD2, PKHD1, PMM2, ACAT1, PRKAR1A, PRKCSH, PRPS1, PTH1R, BBS1, BBS2, PTPRO, BBS4, BBS5, PEX19, PEX2, PEX5, PYGM, RAD51C, RBM8A, REN, RET Specificity 1 % Genes 50 %
Nephrology Endocrinology and Electrolytes - panels. By MGZ Medical Genetics Center (Germany). ROBO2, SALL1, BLK, BMP4, BMP7, SIX1, SIX2, SIX5, SLC12A1, SLC12A3, SLC3A1, SLC7A9, SMARCAL1, HNF1A, HNF1B, KLF11, TRPC6, TSC1, TSC2, UMOD , (...) View the complete list with 95 more genes Panel complete gene list ROBO2, SALL1, BLK, BMP4, BMP7, SIX1, SIX2, SIX5, SLC12A1, SLC12A3, SLC3A1, SLC7A9, SMARCAL1, HNF1A, HNF1B, KLF11, TRPC6, TSC1, TSC2, UMOD, UPK2, UPK3A, VHL, WNT4, WT1, ZIC3, ACTA2, NPHS2, ANLN, CD2AP, WNK1, WNK4, CASR, TRAP1, BSND, ACTN4, PLCE1, CDC5L, SOX17, HPSE2, CEL, CRB2, GRIP1, COQ8B, CHD1L, FRAS1, BICC1, CHRM3, GREM1, CLCN5, COQ6, CLCNKA, CLCNKB, LRIG2, SEC63, COL4A3, COL4A4, COL4A5, PDSS2, FREM1, INF2, APPL1, HOGA1, COQ2, COQ9, FREM2, CUL3, OFD1, CYP24A1, DACH1, DGKE, DSTYK, EMP2, AGTR1, AGXT, ETV5, EYA1, FGF20, GATA3, GCK, GLA, ALPL, GRHPR, HNF4A, NOD2, ABCC8, INS, PDX1, ITGA3, ITGA8, APOL1, ANOS1, KCNJ1, KCNJ10, KCNJ11, KLHL3, LAMB2, LMX1B, ARHGDIA, MUC1, MYH9, MYO1E, NEUROD1, NPHS1, OCRL, PAX2, PAX4, PAX8, PKD1, PKD2, PKHD1, PRKCSH, PTPRO, REN, RET Specificity 1 % Genes 50 %
Renal Dysplasia, Renal Agenesia, CAKUT Panel. By CeGaT GmbH (Germany). ROBO2, SDCCAG8, BMP4, SIX1, SIX5, SPRY1, TBX18, HNF1B, TFAP2A, UPK3A, WT1, ALDH1A2, TRAP1, SOX17, GRIP1, CHD1L, FRAS1, BICC1, FREM1, FREM2 , (...) View the complete list with 12 more genes Panel complete gene list ROBO2, SDCCAG8, BMP4, SIX1, SIX5, SPRY1, TBX18, HNF1B, TFAP2A, UPK3A, WT1, ALDH1A2, TRAP1, SOX17, GRIP1, CHD1L, FRAS1, BICC1, FREM1, FREM2, DSTYK, EYA1, FGF20, FOXC1, GATA2, GATA3, GDNF, ITGA8, NPHP3, OSR1, PAX2, RET Specificity 4 % Genes 50 %
DSTYK. By Fulgent Genetics Fulgent Genetics (United States). DSTYK Specificity 100 % Genes 50 %

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Sources and references

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ORPHANET OMIM MESH Rare Disease Search Engine

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