Dentatorubral-pallidoluysian Atrophy; Drpla

Table of contents:

Description
Related genes
Clinical Features
Incidence and onset information
Alternative Names
Researches and researchers
Gene Panels
Sources and references

Genes related to Dentatorubral-pallidoluysian Atrophy; Drpla

ATN1

View recommended genes panels

Clinical Features

Top most frequent phenotypes and symptoms related to Dentatorubral-pallidoluysian Atrophy; Drpla

Seizures
Ataxia
Nystagmus
Cognitive impairment
Dysarthria
Cerebellar atrophy
Cerebral atrophy
Dilatation
Dementia
Myoclonus

And another 13 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

Dentatorubral-pallidoluysian Atrophy; Drpla Is also known as hrs, ataxia, chorea, seizures, and dementia, haw river syndrome, nod, naito-oyanagi disease, myoclonic epilepsy with choreoathetosis.

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.

Dentatorubral-pallidoluysian Atrophy; Drpla Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Chorea Differential Evaluation. By Athena Diagnostics Inc (United States). ATN1, HTT Specificity 50 % Genes 100 %
DRPLA (ATN1) Repeat Expansion Test. By Athena Diagnostics Inc (United States). ATN1 Specificity 100 % Genes 100 %
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 Panel complete gene list SACS, ATXN1, ATXN10, ATXN2, ATXN7, ATXN8OS, SLC1A3, SPTBN2, TBP, TTPA, VAMP1, CACNA1A, CACNB4, APTX, TGM6, COQ8A, SYNE1, TDP1, TTBK2, SYT14, SIL1, FLVCR1, ANO10, MTPAP, ATN1, AFG3L2, EEF2, FGF14, FXN, SETX, GRM1, ITPR1, KCNA1, KCNC3, KCND3, ATXN3, MRE11, ATM, PDYN, POLG, PPP2R2B, PRKCG Specificity 3 % Genes 100 %
Ataxia, Complete Dominant Evaluation. 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 Panel complete gene list ATXN1, ATXN10, ATXN2, ATXN7, ATXN8OS, SLC1A3, SPTBN2, TBP, VAMP1, CACNA1A, CACNB4, TGM6, TTBK2, ATN1, AFG3L2, EEF2, FGF14, ITPR1, KCNA1, KCNC3, KCND3, ATXN3, PDYN, PPP2R2B, PRKCG Specificity 4 % Genes 100 %
Dentatorubral pallidoluysian atrophy. By Center for Human Genetics, Inc (United States). ATN1 Specificity 100 % Genes 100 %
Dentatorubro-pallidoluysian atrophy. By Molecular Genetics Laboratory Centro de Investigaciones Endocrinologicas "Dr. Cesar Bergada" (Argentina). ATN1 Specificity 100 % Genes 100 %
DRPLA - Dentatorubral-Pallidoluysian Atrophy. By Center for Genetics at Saint Francis Saint Francis Hospital (United States). ATN1 Specificity 100 % Genes 100 %
Ataxia Repeat Expansion Panel. By Genetic Services Laboratory University of Chicago (United States). ATXN1, ATXN10, ATXN2, ATXN7, ATXN8OS, TBP, CACNA1A, ATN1, FXN, ATXN3, PPP2R2B Specificity 10 % Genes 100 %

You can get up to 23 more panels with our dedicated tool

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Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Symptoms Checker

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