Autosomal Recessive Spastic Paraplegia Type 18

Description

Autosomal recessive spastic paraplegia type 18 (SPG18) is a rare, complex type of hereditary spastic paraplegia characterized by progressive spastic paraplegia (presenting in early childhood) associated with delayed motor development, severe intellectual disability and joint contractures. A thin corpus callosum is equally noted on brain magnetic resonance imaging. SPG18 is caused by a mutation in the ERLIN2 gene (8p11.2) encoding the protein, Erlin-2.

Clinical Features

Top most frequent phenotypes and symptoms related to Autosomal Recessive Spastic Paraplegia Type 18

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Scoliosis
  • Strabismus
  • Muscle weakness
  • Spasticity
  • Flexion contracture
  • High palate
  • Motor delay

And another 44 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 18 Is also known as spg18, intellectual disability, motor dysfunction, and joint contractures, idmdc.

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.


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Autosomal Recessive Spastic Paraplegia Type 18 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 %
Hereditary Spastic Paraplegia Exome Panel.

By Genetic Services Laboratory University of Chicago (United States).

RTN2, SACS, SLC16A2, SLC2A1, KDM5C, SPG11, ATL1, SPAST, SPG7, VAMP1, ERLIN2, CAPN1, BSCL2, PNPLA6, ERLIN1, NIPA1, GJC2, EXOSC3, SPART, CPT1C , (...)

View the complete list with 36 more genes
Specificity
2 %
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
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
Specificity
3 %
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
Specificity
1 %
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
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
Specificity
3 %
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
Specificity
2 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

MESH OMIM ORPHANET Genetic Syndrome Finder

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