| Entry |
Name |
Description |
Category |
Pathway |
Gene |
|
H00654
|
Barth syndrome
|
... stature, low cholesterol, and mitochondrial abnormalities. Barth syndrome is due to mutations in the TAZ gene, the exact function of which is unknown but there are indications that it is directly involved ...
|
Inherited metabolic disorder
|
|
TAFAZZIN [HSA:6901] [KO:K13511]
|
|
H00744
|
Potassium-aggravated myotonia
Sodium channel myotonia
|
... includes three diseases with very similar phenotypes: myotonia fluctuans, myotonia permanens, and acetazolamide-sensitive myotonia. These disorders differ from the other nondystrophic myotonias in that: ...
|
Nervous system disease; Musculoskeletal disease
|
|
SCN4A [HSA:6329] [KO:K04837]
|
|
H01625
|
Buerger disease
Thromboangiitis obliterans
|
... to prevent disease progression. Medical line of treatment with vasodilators, pentoxyfylline, and cilostazol may help improve pain-free walking distance but cannot prevent disease progression. Surgical treatment ...
|
Immune system disease
|
|
|