Spinocerebellar Ataxia Type 27
Description
Spinocerebellar ataxia type 27 (SCA27) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by early-onset tremor, dyskinesia, and slowly progressive cerebellar ataxia.
Clinical Features
Top most frequent phenotypes and symptoms related to Spinocerebellar Ataxia Type 27
- Intellectual disability
- Microcephaly
- Ataxia
- Nystagmus
- Strabismus
- Cognitive impairment
- Peripheral neuropathy
- Dysarthria
- Tremor
- Gait disturbance
And another 27 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
Spinocerebellar Ataxia Type 27 Is also known as sca27, cerebellar ataxia, autosomal dominant, fgf14-related.
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.Spinocerebellar Ataxia Type 27 Recommended genes panels
Panel Name, Specifity and genes Tested/covered |
---|
![]() By Athena Diagnostics Inc (United States).
SACS, ATXN1, ATXN10, ATXN2, ATXN7, ATXN8OS, SLC1A3, SPTBN2, TBP, TTPA, VAMP1, CACNA1A, CACNB4, APTX, TGM6, COQ8A, SYNE1, TDP1, TTBK2, SYT14 , (...)
View the complete list with 22 more genes
Specificity
3 %
Genes
100 % |
![]() By Athena Diagnostics Inc (United States).
SLC1A3, SPTBN2, VAMP1, CACNA1A, CACNB4, TGM6, TTBK2, AFG3L2, EEF2, FGF14, ITPR1, KCNA1, KCNC3, KCND3, PDYN, PRKCG
Specificity
7 %
Genes
100 % |
![]() By Athena Diagnostics Inc (United States).
ATXN1, ATXN10, ATXN2, ATXN7, ATXN8OS, SLC1A3, SPTBN2, TBP, VAMP1, CACNA1A, CACNB4, TGM6, TTBK2, ATN1, AFG3L2, EEF2, FGF14, ITPR1, KCNA1, KCNC3 , (...)
View the complete list with 5 more genes
Specificity
4 %
Genes
100 % |
![]() By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).
FGF14
Specificity
100 %
Genes
100 % |
![]() 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 % |
![]() By Laboratorio di Neurogenetica Istituto di Farmacologia Traslazionale - CNR (Italy).
FGF14
Specificity
100 %
Genes
100 % |
![]() By CGC Genetics (Portugal).
FGF14
Specificity
100 %
Genes
100 % |
![]() By CGC Genetics (Portugal).
SACS, SLC1A3, SPTBN2, TTPA, VAMP1, VLDLR, CACNA1A, CACNB4, ELOVL4, ABHD12, APTX, TGM6, COQ8A, SYNE1, TDP1, TTBK2, CCDC88C, ELOVL5, SYT14, PLEKHG4 , (...)
View the complete list with 24 more genes
Specificity
3 %
Genes
100 % |
You can get up to 29 more panels with our dedicated tool
Learn moreSources and references
You can check the following sources for additional information.
MESH OMIM ORPHANET Genetic Syndrome FinderIf you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like POLYPOSIS SYNDROME, HEREDITARY MIXED, 1; HMPS1