Huntington Disease-like 2

Description

Huntington disease-like 2 (HDL2) is a severe neurodegenerative disorder considered part of the neuroacanthocytosis syndromes (see this term) characterized by a triad of movement, psychiatric, and cognitive abnormalities.

Clinical Features

Top most frequent phenotypes and symptoms related to Huntington Disease-like 2

  • Seizures
  • Ataxia
  • Hyperreflexia
  • Dysarthria
  • Gait disturbance
  • Behavioral abnormality
  • Dystonia
  • Depressivity
  • Dementia
  • Cerebral cortical atrophy

And another 23 symptoms. If you need more information about this disease we can help you.

Click here to know more about Mendelian.

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

Huntington Disease-like 2 Is also known as hdl2.

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.

Huntington Disease-like 2 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Huntington Disease-Like 2.

By Johns Hopkins DNA Diagnostic Laboratory Johns Hopkins Hospital (United States).

JPH3
Specificity
100 %
Genes
100 %
Huntington Disease-Like 2.

By Laboratorio di Neurogenetica Istituto di Farmacologia Traslazionale - CNR (Italy).

JPH3
Specificity
100 %
Genes
100 %
Huntington disease-like 2 (HDL2, CAG expansion on JPH3 gene).

By CGC Genetics (Portugal).

JPH3
Specificity
100 %
Genes
100 %
Huntington disease-like type 2.

By Centogene AG - the Rare Disease Company (Germany).

JPH3
Specificity
100 %
Genes
100 %
Hereditary Degenerative Syndromes Panel.

By CeGaT GmbH (Germany).

ATXN2, ATXN7, SLC16A2, SLC25A15, SLC6A3, SMPD1, SUCLA2, TAF1, TBP, TIMM8A, FBXO7, JPH3, NPC2, ARFGEF2, PANK2, MLC1, ARX, VPS13A, CLN3, CSF1R , (...)

View the complete list with 29 more genes
Specificity
3 %
Genes
100 %
Choreatic Movement Disorders Panel.

By CeGaT GmbH (Germany).

ATXN1, ATXN2, ATXN7, TBP, NKX2-1, FRRS1L, JPH3, RNF216, ADCY5, C9orf72, FTL, GM2A, GNAO1, HTT, KCNA1, ARHGEF2, ATXN3, ATM, OPA3, PDE10A , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
100 %
Neuroacanthocytosis Panel.

By CeGaT GmbH (Germany).

XK, JPH3, PANK2, VPS13A
Specificity
25 %
Genes
100 %
Single gene testing JPH3.

By CeGaT GmbH (Germany).

JPH3
Specificity
100 %
Genes
100 %

You can get up to 3 more panels with our dedicated tool

Learn more

Sources and references

You can check the following sources for additional information.

OMIM ORPHANET MESH Rare Disease Search Engine

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