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.
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.
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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 % |
Sources and references
You can check the following sources for additional information.
OMIM ORPHANET MESH Rare Disease Search EngineIf you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like SPINOCEREBELLAR ATAXIA 7; SCA7 KAPOSI SARCOMA, SUSCEPTIBILITY TO LATE-ONSET JUNCTIONAL EPIDERMOLYSIS BULLOSA
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