HDL syndrome
|
Acronym for Huntington's Disease-Like syndrome)
There are neurological diseases with a phenotype similar to Huntington's disease (see this term) but the genetic origin of which is not a mutation of the HTT gene.
These phenocopies are:
Type of phenocopy |
GENE |
transmission mode |
HDL1 HDL2 HDL3 HDL4 (spinocerebellar ataxia type 17) Neuroferritinopathy Wilson disease Benign hereditary chorea Choreo-acanthocytosis Mc Leod syndrome |
PRNP (prion protein) JPH3 (junctophiline 3) ? TBP (Tata-box-binding protein) FTL (ferritin light chain) ATP7B TITF1(thyroid transcription factor) VPPS13A XK |
autosomal dominant autosomal dominant autosomal recessive autosomal dominant autosomal dominant autosomal dominant autosomal recessive autosomal dominant autosomal recessive X-linked |
Anesthetic implications:
see Huntington disease, Wilson disease, McLeod syndrome, choreoacanthosis
References :
-
Updated: September 2017*