Huntington Disease; Hd

Description

Huntington disease (HD) is an autosomal dominant progressive neurodegenerative disorder with a distinct phenotype characterized by chorea, dystonia, incoordination, cognitive decline, and behavioral difficulties. There is progressive, selective neural cell loss and atrophy in the caudate and putamen. Walker (2007) provided a detailed review of Huntington disease, including clinical features, population genetics, molecular biology, and animal models.

Clinical Features

Top most frequent phenotypes and symptoms related to Huntington Disease; Hd

  • Seizures
  • Pica
  • Ataxia
  • Cognitive impairment
  • Spasticity
  • Anemia
  • Nevus
  • Delayed speech and language development
  • Hyperreflexia
  • Dysarthria
And another 56 symptoms. If you need more information about this disease we can help you.
Click here to know more about Mendelian.

Incidence and onset information

— Based on the latest data available Huntington Disease; Hd have a estimated incidence of 0.38 per 100k in Europe.


Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Huntington Disease; Hd Recommended genes panels

Panel Name, Specifity and genes Tested/covered
SLC2A3.

By Fulgent Genetics Fulgent Genetics in United States.

SLC2A3
Specificity
100 %
Genes
50 %
HTC.

By Molecular Diagnostic Laboratory Kingston General Hospital in Canada.

HTT
Specificity
100 %
Genes
50 %
Huntington Disease Repeat Expansion Analysis.

By Baylor Miraca Genetics Laboratories in United States.

HTT
Specificity
100 %
Genes
50 %
Huntington Disease Repeat Expansion Analysis (Prenatal Diagnosis).

By Baylor Miraca Genetics Laboratories in United States.

HTT
Specificity
100 %
Genes
50 %
Chorea Differential Evaluation.

By Athena Diagnostics Inc in United States.

HTT, ATN1
Specificity
50 %
Genes
50 %
Huntington's Disease DNA Test.

By Athena Diagnostics Inc in United States.

HTT
Specificity
100 %
Genes
50 %
Huntington's Disease.

By Center for Human Genetics, Inc in United States.

HTT
Specificity
100 %
Genes
50 %
Huntington Disease.

By Clinical Molecular Genetics Laboratory Johns Hopkins All Children's Hospital in United States.

HTT
Specificity
100 %
Genes
50 %
Huntington's Disease.

By Molecular Pathology Laboratory Ohio State University in United States.

HTT
Specificity
100 %
Genes
50 %
Huntington disease.

By Molecular Genetics Laboratory North York General Hospital in Canada.

HTT
Specificity
100 %
Genes
50 %
Huntington Disease.

By UCSF Molecular Diagnostics Laboratory University of California, San Francisco in United States.

HTT
Specificity
100 %
Genes
50 %
Huntington Disease.

By Johns Hopkins DNA Diagnostic Laboratory Johns Hopkins Hospital in United States.

HTT
Specificity
100 %
Genes
50 %
Huntington Disease.

By Center for Genetics at Saint Francis Saint Francis Hospital in United States.

HTT
Specificity
100 %
Genes
50 %
Huntington disease.

By Molecular Diagnostic Laboratory Diagnostic Services of Manitoba, Health Sciences Centre site in Canada.

HTT
Specificity
100 %
Genes
50 %
Huntington Disease Test.

By Genetics Laboratory - Department of Pathology Rush University Medical Center in United States.

HTT
Specificity
100 %
Genes
50 %
Huntington Disease.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States.

HTT
Specificity
100 %
Genes
50 %
Huntington Disease.

By Molecular Genetics Diagnostic Laboratory Detroit Medical Center University Laboratories in United States.

HTT
Specificity
100 %
Genes
50 %
Huntington Disease-HD.

By Genetics Laboratory University of Oklahoma Health Sciences Center in United States.

HTT
Specificity
100 %
Genes
50 %
Huntington Disease.

By Genetics Laboratory Shodair Children's Hospital in United States.

HTT
Specificity
100 %
Genes
50 %
Huntington Disease.

By United States Air Force Molecular Diagnostic Laboratory United States Air Force in United States.

HTT
Specificity
100 %
Genes
50 %
Huntington Disease.

By Molecular Genetics Laboratory - Diagnostics Genetics LabPLUS - Auckland City Hospital in New Zealand.

HTT
Specificity
100 %
Genes
50 %
HTT.

By Institute for Human Genetics University Clinic Freiburg in Germany.

HTT
Specificity
100 %
Genes
50 %
Huntington.

By Human Genetics Ruhr University in Germany.

HTT
Specificity
100 %
Genes
50 %
Huntington Disease (HD) Mutation by PCR.

By ARUP Laboratories, Molecular Genetics and Genomics in United States.

HTT
Specificity
100 %
Genes
50 %
Huntington Disease.

By Sheffield Diagnostic Genetics Service Sheffield Children's NHS Foundation Trust in United Kingdom.

HTT
Specificity
100 %
Genes
50 %
Huntingtin (HTT) gene CAG triplet repeat test.

By Neurogenetics Department Cyprus Institute of Neurology and Genetics in Cyprus.

HTT
Specificity
100 %
Genes
50 %
Huntington Disease.

By Laboratorio di Neurogenetica Istituto di Farmacologia Traslazionale - CNR in Italy.

HTT
Specificity
100 %
Genes
50 %
HTT. CAG expansion detection by PCR.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

HTT
Specificity
100 %
Genes
50 %
Huntington disease (detection of expanded CAG triplet-repeat on HTT gene).

By CGC Genetics in Portugal.

HTT
Specificity
100 %
Genes
50 %
Huntington disease.

By Laboratory of Genetics HUSLAB in Finland.

HTT
Specificity
100 %
Genes
50 %
Huntington Disease.

By Institute of Medical Genetics and Genomics Sir Ganga Ram Hospital in India.

HTT
Specificity
100 %
Genes
50 %
Huntington Disease.

By University of Iowa Diagnostic Laboratories University of Iowa Hospitals and Clinics in United States.

HTT
Specificity
100 %
Genes
50 %
Huntington Disease via the HTT CAG Repeat Expansion.

By PreventionGenetics PreventionGenetics in United States.

HTT
Specificity
100 %
Genes
50 %
Huntington Disease.

By Molecular Genetics Laboratory BC Children's and BC Women's Hospitals in Canada.

HTT
Specificity
100 %
Genes
50 %
Huntington Disease.

By MGZ Medical Genetics Center in Germany.

HTT
Specificity
100 %
Genes
50 %
Huntington disease.

By Synlab MVZ Humane Genetik München Synlab MVZ Humane Genetik München in Germany.

HTT
Specificity
100 %
Genes
50 %
Huntington's disease.

By GeneTech ATS GeneTech Private Limited in India.

HTT
Specificity
100 %
Genes
50 %
Huntington disease.

By Centogene AG - the Rare Disease Company in Germany.

HTT
Specificity
100 %
Genes
50 %
AllNeuro panel.

By Centogene AG - the Rare Disease Company in Germany.

F2, F5, FMR1, HTT, HFE, MTHFR, TTR, UBE3A, VHL, PTEN, AARS2, ABHD12, ACACA, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1 , (...)

View the complete list with 1185 more genes
Specificity
1 %
Genes
50 %
Hereditary Degenerative Syndromes Panel.

By CeGaT GmbH in Germany.

HTT, ATP7A, ATP7B, AUH, HPRT1, NDUFS4, PANK2, SMPD1, MECP2, SUCLA2, TIMM8A, HEXA, SLC25A15, GCDH, CYP27A1, PRKN, CLN3, ARSA, ARX, FOXG1 , (...)

View the complete list with 29 more genes
Specificity
3 %
Genes
50 %
Choreatic Movement Disorders Panel.

By CeGaT GmbH in Germany.

HTT, OPA3, GM2A, ATXN1, ATM, C9orf72, ATXN2, ATXN3, ATXN7, TBP, KCNA1, GNAO1, NKX2-1, JPH3, FTL, PDE10A, PRNP, ADCY5, RNF216, FRRS1L , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
50 %
Single gene testing HTT.

By CeGaT GmbH in Germany.

HTT
Specificity
100 %
Genes
50 %
Huntington disease.

By Molecular Diagnostics Division Centre for Cellular and Molecular Biology in India.

HTT
Specificity
100 %
Genes
50 %
Huntington Disease.

By MVZ Dortmund Dr. Eberhard & Partner in Germany.

HTT
Specificity
100 %
Genes
50 %
Huntington's disease.

By Molecular Diagnostics Laboratory Seoul National University Hospital in South Korea.

HTT
Specificity
100 %
Genes
50 %
Huntington Disease.

By Labor-MVZ Westmecklenburg Laboratory for Molecular Diagnostics in Germany.

HTT
Specificity
100 %
Genes
50 %
Huntington disease (HTT).

By Center for Human Genetics Cliniques Universitaires Saint Luc in Belgium.

HTT
Specificity
100 %
Genes
50 %
Huntington disease.

By Praxis fuer Humangenetik Wien in Austria.

HTT
Specificity
100 %
Genes
50 %
Huntington Disease.

By GENETIX Centro de Investigación en Genética Humana y Reproductiva in Colombia.

HTT
Specificity
100 %
Genes
50 %
Huntington disease: HHT gene, CAG repeat expansion.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

HTT
Specificity
100 %
Genes
50 %
Huntington Disease: CAG Repeat Analysis.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

HTT
Specificity
100 %
Genes
50 %
Nuclear-Mito NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

HTT, UBE3A, MUTYH, TP53, MCCC1, MCCC2, AARS2, ACACA, ACAD9, ACADL, ACADM, ACADS, ACADVL, ACAT1, YARS2, FBP1, PC, GYS2, UQCRQ, UQCRB , (...)

View the complete list with 484 more genes
Specificity
1 %
Genes
50 %
Huntington Repeat Expansion Analysis.

By Fulgent Genetics Fulgent Genetics in United States.

HTT
Specificity
100 %
Genes
50 %
HTT.

By Fulgent Genetics Fulgent Genetics in United States.

HTT
Specificity
100 %
Genes
50 %
Huntington Disease Mutation Analysis.

By Quest Diagnostics Nichols Institute San Juan Capistrano in United States.

HTT
Specificity
100 %
Genes
50 %
Huntington Disease Mutation Analysis (NY).

By Quest Diagnostics Nichols Institute San Juan Capistrano in United States.

HTT
Specificity
100 %
Genes
50 %
Epileptic Encephalopathy Panel.

By Blueprint Genetics in Finland.

HTT, MTHFR, UBE3A, ADSL, CPT2, POLG, NDUFS4, MECP2, DNM1L, TTC19, NUBPL, ABAT, GAMT, STXBP1, SLC25A22, GLDC, AMT, ETHE1, D2HGDH, SLC9A6 , (...)

View the complete list with 108 more genes
Specificity
1 %
Genes
50 %
Comprehensive Epilepsy Panel.

By Blueprint Genetics in Finland.

HTT, MTHFR, UBE3A, ARG1, BTD, ADSL, AMACR, CPT2, PSAP, GLB1, PRODH, GNE, HSD17B10, POLG, NDUFS4, HSPD1, AFG3L2, FOXRED1, FH, MECP2 , (...)

View the complete list with 263 more genes
Specificity
1 %
Genes
50 %
Huntington Disease (HD).

By Genomic Research Center Shahid Beheshti University of Medical Sciences in Iran.

HTT
Specificity
100 %
Genes
50 %
Huntington chorea.

By Bioarray in Spain.

HTT
Specificity
100 %
Genes
50 %
Huntington´s Disease.

By Institute of Human Genetics Justus-Liebig University in Germany.

HTT
Specificity
100 %
Genes
50 %
Exome.

By DNA CONSULT GENETICA E BIOTECNOLOGIA LTDA. in Brazil.

BRCA1, BRCA2, FMR1, HTT, HFE, TTR, UBE3A, APC, MUTYH, PTEN, TP53, ALPL, COL2A1, COL1A1, COL1A2, COL3A1, PRKCG, TGFB1, RET, AFG3L2 , (...)

View the complete list with 46 more genes
Specificity
2 %
Genes
50 %
Huntington disease mutation analysis.

By Diagnostics Division Centre for DNA Fingerprinting and Diagnostics in India.

HTT
Specificity
100 %
Genes
50 %
Huntington Disease (HD).

By Center for Comprehensive Genetic Services Shahid Beheshti University of Medical Sciences in Iran.

HTT
Specificity
100 %
Genes
50 %
HUNTINGTON DISEAS.

By Laboratorio de Genetica Clinica SL in Spain.

HTT
Specificity
100 %
Genes
50 %
Huntington Disease.

By Labor Dr. Wisplinghoff in Germany.

HTT
Specificity
100 %
Genes
50 %
Huntington's disease: Triplet CAG Repeat expansion study.

By Foundation for Research In Genetics and Endocrinology and Institute of Human Genetics Institute of Human Genetics in India.

HTT
Specificity
100 %
Genes
50 %

Alternate names

Huntington Disease; Hd Is also known as huntington chorea;huntington chorea.


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like WAARDENBURG SYNDROME, TYPE 2E; WS2E MUSCULAR DYSTROPHY, CONGENITAL, DAVIGNON-CHAUVEAU TYPE; MDCDC RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER; RALD SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 18; SCAR18 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 18; COXPD18 CHOROIDAL DYSTROPHY, CENTRAL AREOLAR 2; CACD2