Segawa Syndrome, Recessive malady
Categories: Genetic diseases, Rare diseases, Neuronal diseases, Metabolic diseases
Aliases & Descriptions for Segawa Syndrome, Recessive:
Orphanet epidemiological data:53
tyrosine hydroxylase deficiency:
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Europe); Age of onset: Infancy,Neonatal
Penetrance: penetrance appears to be complete in individuals with biallelic th pathogenic variants...
Global: Genetic diseases, Rare diseases, Metabolic diseases
Anatomical: Neuronal diseases
NIH Rare Diseases:47 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 myotonia congenita, dominant and tyrosine hydroxylase-deficient dopa-responsive dystonia, and has symptoms including myoclonus, mask-like facies and ptosis. An important gene associated with Segawa Syndrome, Recessive is TH (Tyrosine Hydroxylase).
Genetics Home Reference:25 Tyrosine hydroxylase (TH) deficiency is a disorder that primarily affects movement, with symptoms that may range from mild to severe.
OMIM:51 Segawa syndrome is an autosomal recessive neurologic disorder characterized by onset in infancy of dopa-responsive... (605407) more...
UniProtKB/Swiss-Prot:69 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 for NBK1437
Diseases related to Segawa Syndrome, Recessive via text searches within MalaCards or GeneCards Suite gene sharing:
Graphical network of diseases related to Segawa Syndrome, Recessive:
Human phenotypes related to Segawa Syndrome, Recessive:63 (show all 15)
UMLS symptoms related to Segawa Syndrome, Recessive:muscle rigidity, tremor, hypokinesia, extrapyramidal sign, dystonia, limb, gait ataxia, muscular stiffness, lid lag
UniProtKB/Swiss-Prot genetic disease variations for Segawa Syndrome, Recessive:69 (show all 38)
Clinvar genetic disease variations for Segawa Syndrome, Recessive:5 (show all 29)
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:
30ICD10 via Orphanet
39MESH via Orphanet
52OMIM via Orphanet
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
68UMLS via Orphanet