Autosomal Recessive Spastic Paraplegia Type 53
Description
Autosomal recessive spastic paraplegia type 53 (SPG53) is a very rare, complex type of hereditary spastic paraplegia characterized by early-onset spastic paraplegia (with spasticity in the lower extremities that progresses to the upper extremities) associated with developmental and motor delay, mild to moderate cognitive and speech delay, skeletal dysmorphism (e.g. kyphosis and pectus), hypertrichosis and mildly impaired vibration sense. SPG53 is due to mutations in the VPS37A gene (8p22) encoding vacuolar protein sorting-associated protein 37A.
Genes related to Autosomal Recessive Spastic Paraplegia Type 53
- VPS37A
Clinical Features
Top most frequent phenotypes and symptoms related to Autosomal Recessive Spastic Paraplegia Type 53
- Global developmental delay
- Hearing impairment
- Microcephaly
- Failure to thrive
- Spasticity
- Cognitive impairment
- Delayed speech and language development
- Motor delay
- Gait disturbance
- Ventriculomegaly
And another 18 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 53 Is also known as spg53.
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 53 Recommended genes panels
Panel Name, Specifity and genes Tested/covered |
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![]() 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 % |
![]() 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 % |
![]() 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 % |
![]() By PreventionGenetics PreventionGenetics (United States).
VPS37A
Specificity
100 %
Genes
100 % |
![]() 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 % |
![]() 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 % |
![]() By Institute of Human Genetics Uniklinik RWTH Aachen (Germany).
RGS7, RIT1, RMRP, BCS1L, RPL10, RPS6KA3, RRAS, SALL1, SC5D, ATXN10, BLM, SCN1A, SCN2A, SCN8A, SCO2, AIMP1, SDCCAG8, SDHA, SDHB, SGSH , (...)
View the complete list with 845 more genes
Specificity
1 %
Genes
100 % |
![]() By MGZ Medical Genetics Center (Germany).
VPS37A
Specificity
100 %
Genes
100 % |
You can get up to 9 more panels with our dedicated tool
Learn moreSources and references
You can check the following sources for additional information.
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