| Entry |
Name |
Description |
Category |
Pathway |
Gene |
|
H01570
|
Autosomal dominant striatal degeneration
|
Autosomal-dominant striatal degeneration (ADSD) is a rare autosomal-dominant movement disorder affecting the striatal part of the basal ganglia, with onset in the fourth to fifth decade. The main clinical ...
|
Nervous system disease
|
|
(ADSD1) PDE8B [HSA:8622] [KO:K18437]
(ADSD2) PDE10A [HSA:10846] [KO:K18438]
|
|
H02388
|
Infantile-onset limb and orofacial dyskinesia
|
... and orofacial dyskinesia (IOLOD) is a hyperkinetic movement disorder due to homozygous mutations in PDE10A, that encodes a dual cAMP-cGMP phosphodiesterase. PDE10A is enriched in the medium spiny neurons ...
|
Nervous system disease
|
|
(IOLOD) PDE10A [HSA:10846] [KO:K18438]
|