Autosomal Recessive Spastic Paraplegia Type 64
Description
Autosomal recessive spastic paraplegia type 64 is an extremely rare and complex form of hereditary spastic paraplegia (see this term), reported in only 4 patients from 2 families to date, characterized by spastic paraplegia (presenting between the ages of 1 to 4 years with abnormal gait) associated with microcephaly, amyotrophy, cerebellar signs (e.g. dysarthria) aggressiveness, delayed puberty and mild to moderate intellectual disability. SPG64 is due to mutations in the ENTPD1 gene (10q24.1), encoding ectonucleoside triphosphate diphosphohydrolase 1.
Genes related to Autosomal Recessive Spastic Paraplegia Type 64
- ENTPD1
- ENTPD1-AS1
Clinical Features
Top most frequent phenotypes and symptoms related to Autosomal Recessive Spastic Paraplegia Type 64
- Intellectual disability
- Microcephaly
- Spasticity
- Dysarthria
- Skeletal muscle atrophy
- Gait disturbance
- Talipes equinovarus
- Areflexia
- Aggressive behavior
- Intellectual disability, moderate
And another 7 symptoms. If you need more information about this disease we can help you.
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 64 Is also known as spg64.
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 64 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
50 % |
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
50 % |
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
50 % |
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
50 % |
Spastic paraplegia 64 (SPG64, sequence analysis of ENTPD1 gene).
By CGC Genetics (Portugal).
ENTPD1
Specificity
100 %
Genes
50 % |
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
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
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
Specificity
2 %
Genes
50 % |
You can get up to 8 more panels with our dedicated tool
Learn moreSources and references
You can check the following sources for additional information.
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