Segawa Syndrome, Recessive malady
Genetic diseases, Rare diseases, Neuronal diseases, Metabolic diseases categories
Aliases & Descriptions for Segawa Syndrome, Recessive:
MalaCards categories: See all MalaCards categories (disease lists)
Global: Genetic diseases, Rare diseases, Metabolic diseases
Anatomical: Neuronal diseases
Characteristics (Orphanet epidemiological data):51
tyrosine hydroxylase deficiency:
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Europe); Age of onset: Infancy,Neonatal
NIH Rare Diseases:45 Tyrosine hydroxylase (th) deficiency is a rare inherited condition that affects the nervous system. there are three different forms of the condition that vary in severity. the mild form is called th-deficient dopa-responsive dystonia and typically develops between age twelve months and six years. the two severe forms, which are called infantile parkinsonism and progressive infantile encephalopathy, often begin shortly after birth or during early infancy. although there is some overlap of features among the three forms, each is associated with unique signs and symptoms. th deficiency is caused by changes (mutations) in the th gene and is inherited in an autosomal recessive manner. affected people are usually treated with levodopa therapy. last updated: 2/16/2015
MalaCards based summary: Segawa Syndrome, Recessive, also known as tyrosine hydroxylase deficiency, is related to dystonia and tyrosine hydroxylase-deficient dopa-responsive dystonia, and has symptoms including myoclonus, autosomal recessive inheritance and mask-like facies. An important gene associated with Segawa Syndrome, Recessive is TH (Tyrosine Hydroxylase).
Genetics Home Reference:23 Tyrosine hydroxylase (TH) deficiency is a disorder that primarily affects movement, with symptoms that may range from mild to severe.
OMIM:49 Segawa syndrome is an autosomal recessive neurologic disorder characterized by onset in infancy of dopa-responsive... (605407) more...
UniProtKB/Swiss-Prot:67 Segawa syndrome autosomal recessive: A form of DOPA-responsive dystonia presenting in infancy or early childhood. Dystonia is defined by the presence of sustained involuntary muscle contractions, often leading to abnormal postures. Some cases present with parkinsonian symptoms in infancy. Unlike all other forms of dystonia, it is an eminently treatable condition, due to a favorable response to L-DOPA.
GeneReviews summary for thdrd
HPO human phenotypes related to Segawa Syndrome, Recessive:(show all 18)
UniProtKB/Swiss-Prot genetic disease variations for Segawa Syndrome, Recessive:67 (show all 38)
Clinvar genetic disease variations for Segawa Syndrome, Recessive:5 (show all 13)
Search GEO for disease gene expression data for Segawa Syndrome, Recessive.
Cellular components related to Segawa Syndrome, Recessive according to GeneCards Suite gene sharing:
Biological processes related to Segawa Syndrome, Recessive according to GeneCards Suite gene sharing:
28ICD10 via Orphanet
37MESH via Orphanet
50OMIM via Orphanet
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
66UMLS via Orphanet