Spastic Paraplegia 33, Autosomal Dominant; Spg33

Clinical Features

Top most frequent phenotypes and symptoms related to Spastic Paraplegia 33, Autosomal Dominant; Spg33

  • Spasticity
  • Cognitive impairment
  • Hyperreflexia
  • Talipes equinovarus
  • Babinski sign
  • Spastic paraplegia
  • Paraplegia
  • Lower limb muscle weakness
  • Lower limb spasticity
  • Spastic gait

And another 2 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.)
— The onset for some of the known clinical features related to this disease may vary, including adult 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.

Spastic Paraplegia 33, Autosomal Dominant; Spg33 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
Specificity
2 %
Genes
100 %
Spastic paraplegia 33 (SPG33, sequence analysis of ZFYVE27 gene).

By CGC Genetics (Portugal).

ZFYVE27
Specificity
100 %
Genes
100 %
Hereditary spastic paraplegia AD (NGS panel for 10 genes).

By CGC Genetics (Portugal).

ATL1, SPAST, BSCL2, NIPA1, REEP1, ZFYVE27, WASHC5, HSPD1, KIF5A, SLC33A1
Specificity
10 %
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
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
Specificity
4 %
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
Specificity
2 %
Genes
100 %
Neurogenetic Disorders - panels.

By MGZ Medical Genetics Center (Germany).

BCS1L, RTN2, RYR1, SACS, SCN1A, SCN1B, SCN2A, SCN8A, SCO1, SCO2, AIMP1, SDHA, SDHB, SDHC, SDHD, SGCE, SLC16A2, SLC17A5, SLC19A2, SLC1A3 , (...)

View the complete list with 572 more genes
Specificity
1 %
Genes
100 %
AllNeuro panel.

By Centogene AG - the Rare Disease Company (Germany).

BCS1L, ROR2, RPL10, BDNF, RPS6KA3, RTN2, RYR1, SACS, BIN1, SBF1, SCN10A, SCN1A, SCN1B, SCN2A, SCN3A, SCN4A, SCN5A, SCN8A, SCN9A, SCO1 , (...)

View the complete list with 1177 more genes
Specificity
1 %
Genes
100 %

You can get up to 14 more panels with our dedicated tool

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Sources and references

You can check the following sources for additional information.

MESH OMIM Genetic Syndrome Finder

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