Hyperreflexia; Hrx
Description
Autonomic nervous system overreaction to stimuli, most commonly after spinal cord injury at a T-5 level and above.
Clinical Features
Phenotypes and symptoms related to Hyperreflexia; Hrx
- Microcephaly
- Abnormality of retinal pigmentation
- Ankle clonus
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.
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.Hyperreflexia; Hrx Recommended genes panels
Panel Name, Specifity and genes Tested/covered |
---|
GeneAware Complete Panel Version 2 (Female).
By Baylor Miraca Genetics Laboratories (United States).
RMRP, BCS1L, SACS, BLM, SGCA, SGCB, SGCG, SGSH, SLC12A6, SLC17A5, SLC22A5, SLC25A13, SLC25A15, SLC26A2, SLC35A3, SLC7A7, SMN1, SMPD1, BTD, BTK , (...)
View the complete list with 139 more genes
Specificity
1 %
Genes
25 % |
GeneAware Complete Panel Version 2 (Male).
By Baylor Miraca Genetics Laboratories (United States).
RMRP, BCS1L, SACS, BLM, SGCA, SGCB, SGCG, SGSH, SLC12A6, SLC17A5, SLC22A5, SLC25A13, SLC25A15, SLC26A2, SLC35A3, SLC7A7, SMN1, SMPD1, BTD, TGM1 , (...)
View the complete list with 129 more genes
Specificity
1 %
Genes
25 % |
Ataxia with Vitamin E Deficiency (AVED) TTPA DNA Sequencing Test.
By Athena Diagnostics Inc (United States).
TTPA
Specificity
100 %
Genes
25 % |
Ataxia, Supplemental Recessive Evaluation.
By Athena Diagnostics Inc (United States).
SACS, TTPA, APTX, COQ8A, SYNE1, TDP1, SYT14, SIL1, FLVCR1, ANO10, MTPAP, AFG3L2, SETX, GRM1, MRE11, ATM, POLG
Specificity
6 %
Genes
25 % |
Ataxia, Complete Recessive Evaluation.
By Athena Diagnostics Inc (United States).
SACS, TTPA, APTX, COQ8A, SYNE1, TDP1, SYT14, SIL1, FLVCR1, ANO10, MTPAP, AFG3L2, FXN, SETX, GRM1, MRE11, ATM, POLG
Specificity
6 %
Genes
25 % |
Ataxia, Comprehensive Evaluation.
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
5 %
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 % |
TTPA. Complete sequencing.
By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain).
TTPA
Specificity
100 %
Genes
25 % |
You can get up to 223 more panels with our dedicated tool
Learn moreSources and references
You can check the following sources for additional information.
MESH OMIM Rare Disease Symptoms CheckerIf you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like WAARDENBURG SYNDROME, TYPE 2A; WS2A CARNEY COMPLEX, TYPE 1; CNC1 LEUKOENCEPHALOPATHY WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LACTATE ELEVATION; LBSL MUSCULAR DYSTROPHY, CONGENITAL, MEGACONIAL TYPE; MDCMC SPASTIC PARAPLEGIA 46, AUTOSOMAL RECESSIVE; SPG46