Choreoacanthocytosis

Description

Chorea-acanthocytosis (ChAc) is a form of neuroacanthocytosis (see this term) and is characterized clinically by a Huntington disease-like phenotype with progressive neurological symptoms including movement disorders, psychiatric manifestations and cognitive disturbances.

Clinical Features

Top most frequent phenotypes and symptoms related to Choreoacanthocytosis

  • Seizures
  • Short stature
  • Ataxia
  • Nystagmus
  • Muscle weakness
  • Muscular hypotonia
  • Cataract
  • Cognitive impairment
  • Feeding difficulties
  • Peripheral neuropathy

And another 90 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

Choreoacanthocytosis Is also known as neuroacanthocytosis, chorea-acanthocytosis, chac, levine-critchley syndrome, acanthocytosis with neurologic disorder.

Researches and researchers

Doctors, researchs, and experts related to Choreoacanthocytosis extracted from public data.

Choreoacanthocytosis Experts map



Current Researchs and researchers

  • MÜNCHEN — Pr Adrian DANEK

    Coordinator of expert centre - Clinical expert - Investigator of research project - Contact person of registry - Coordinator of research network

    • Institution/s:
      — LMU Klinikum der Universität München - Campus Großhadern
    • Research area/topic::

      EMINA: European multidisciplinary initiative on neuroacanthocytosis



Mendelian

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Choreoacanthocytosis Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Epilepsy Advanced Sequencing and CNV Evaluation.

By Athena Diagnostics Inc (United States).

SCN1A, SCN1B, SCN2A, SCN3A, SCN5A, SCN8A, SCN9A, SHH, ST3GAL3, ST3GAL5, STIL, SIX3, SLC2A1, SLC35A2, SLC6A1, SLC6A8, SLC9A6, SMC1A, KDM5C, SMS , (...)

View the complete list with 214 more genes
Specificity
1 %
Genes
100 %
Epilepsy Advanced Sequencing and CNV Evaluation - Syndromic Disorders.

By Athena Diagnostics Inc (United States).

SYNGAP1, TBX1, TSC1, TSC2, SETBP1, PANK2, ADGRV1, ATP6V0A2, MAGI2, VPS13A, ANKRD11, VPS13B, KIF1BP, KANSL1, SMC3, PIGV, NIPBL, ROGDI, GFAP, HPRT1 , (...)

View the complete list with 11 more genes
Specificity
4 %
Genes
100 %
Dystonia.

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

SCP2, SGCE, SLC20A2, SLC2A1, SLC6A3, SPR, SUCLA2, SUOX, TAF1, TH, TIMM8A, TREX1, MCOLN1, FBXO7, CACNA1A, NPC2, PINK1, PANK2, SAMHD1, APTX , (...)

View the complete list with 57 more genes
Specificity
2 %
Genes
100 %
Movement Disorders Panel.

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

SCP2, SGCE, SLC20A2, SLC2A1, SLC6A3, SNCA, SPR, SQSTM1, SUCLA2, SUOX, TAF1, TH, TIMM8A, TREX1, MCOLN1, VPS35, FBXO7, CACNA1A, NPC2, PINK1 , (...)

View the complete list with 72 more genes
Specificity
2 %
Genes
100 %
Dystonia Exome Panel.

By Genetic Services Laboratory University of Chicago (United States).

BCS1L, SCN8A, SCP2, SDHA, SGCE, SLC16A2, SLC20A2, SLC2A1, SLC6A3, SLC6A8, SPR, SQSTM1, STXBP1, SUCLA2, SUOX, SURF1, SYNJ1, TAF1, TBCD, TH , (...)

View the complete list with 150 more genes
Specificity
1 %
Genes
100 %
VPS13A. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain).

VPS13A
Specificity
100 %
Genes
100 %
VPS13A. NextGeneDx.Complete sequencing by NGS.

By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain).

VPS13A
Specificity
100 %
Genes
100 %
Neuroacanthocytosis (sequence analysis of VPS13A gene).

By CGC Genetics (Portugal).

VPS13A
Specificity
100 %
Genes
100 %

We have 27 more panels available in our App

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Sources and references

You can check the following sources for additional information.

ORPHANET OMIM Genetic Syndrome Finder

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