Neurology · Neurology / Movement disorders; Neurogenetics
Huntington disease phenocopy syndrome
also: Huntington disease-like syndromes (HDL1–HDL3 and phenocopies)
Disorders mimicking Huntington disease without HTT expansion.
- Specialty
- Neurology
- Subspecialty
- Neurology / Movement disorders; Neurogenetics
- Sex & age distribution
- Male: affected; Female: affected equally; Children: rare, mainly adults
- Gene(s) involved
- ATN1, ATXN2, ATXN3, FTL, HDL3, JPH3, PANK2, PRNP, TBP, VPS13A, XK
- Alternative names & eponyms
- Huntington disease-like syndromes (HDL1–HDL3 and phenocopies)
- Note
- Overlaps #72
Etiology & mechanism
Genetic: PRNP octapeptide repeats, JPH3, TBP and others.
Gene(s) involved (11)
Symptoms & signs (4)
In plain terms, someone with Huntington disease phenocopy syndrome may experience the following — click any to explore related syndromes:
Same gene(s)
Other syndromes that involve one of this syndrome's genes.
Overlapping symptoms
Other syndromes that share symptoms with this one.
Drag nodes, scroll to zoom, click a node to open that syndrome.
Shares symptoms with
1 shared
Benedikt syndrome
chorea
1 shared
Brain–lung–thyroid syndrome
chorea
1 shared
CARASIL
cognitive decline
1 shared
Chorea-acanthocytosis
chorea
1 shared
Corticobasal syndrome
dystonia
1 shared
Fragile X-associated tremor/ataxia syndrome
cognitive decline
1 shared
Hallervorden–Spatz syndrome
dystonia
1 shared
Hartnup syndrome
psychiatric symptoms
1 shared
Hereditary spastic paraplegia type 15
cognitive decline
1 shared
Leigh syndrome
dystonia
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