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Entry	Name	Description	Category	Gene
H00705	Myotonia congenita	... that occur later in childhood. Two additional forms of myotonia congenita have been described: myotonia levior and fluctuating myotonia congenita. Like Becker and Thomsen disease, both of these conditions ...	Nervous system disease; Musculoskeletal disease	CLCN1 [HSA:1180] [KO:K05010]
H01589	Systemic primary carnitine deficiency	... plasma, with accumulation of lipid deposits and renal leakage of carnitine. The clinical symptoms are alleviated dramatically by oral administration of L-carnitine. However, if untreated, patients are precipitated ...	Inherited metabolic disorder	(CDSP) SLC22A5 [HSA:6584] [KO:K08202]
H01636	Fibromyalgia Fibromyalgia syndrome	... to expression of multiple genes that amplify pain perception in the pain processing pathway. Although there is no ultimate cure for fibromyalgia, some medications can alleviate symptoms of the disease.	Musculoskeletal disease
H01676	Normal pressure hydrocephalus	... symptoms is not until late in life, it has been reported that a subset of patients with INPH may actually have congenital hydrocephalus. Symptoms can be alleviated with a cerebrospinal fluid (CSF) shunt.	Nervous system disease
H01708	Diffuse idiopathic skeletal hyperostosis Forestier disease Ankylosing hyperostosis Ossification of the anterior longitudinal ligament	... exceptionally breathing difficulties due to airway compromise. In these cases, early surgery is recommended to alleviate airway obstruction. Although the hallmark of the DISH is considered to be the anterolateral aspect ...	Musculoskeletal disease
H02574	BILU syndrome	... autosomal dominant mutations in TOP2B cause BILU syndrome. TOP2B encodes a type II topoisomerase, an essential gene required to alleviate topological stress during DNA replication and gene transcription.	Immune system disease	TOP2B [HSA:7155] [KO:K03164]

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