Segawa Syndrome, Autosomal Recessive (ARSEGS)

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OMIM 57 605407 Orphanet 59 ORPHA101150 UMLS via Orphanet 74 C2673535 ICD10 via Orphanet 34 G24.1

MedGen 42 C2673535 C1854299 MeSH 44 D020734 SNOMED-CT via HPO 69 258211005 103606006 11934000 162294008 229721007 29164008 62415009 214264003 86765009 32798002 127324008 17450006 26079004 205091006 249808002 397932003 386661006 50177009 14760008 225595004 16046003 25136009 399317006 56610005 255385008 43994002 246586009 366575004 275295002 53827007 62718007 445006008 425492002 5332004 78164000 42984000 more UMLS 73 C2673535

NIH Rare Diseases : ⁵³ 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.

MalaCards based summary : Segawa Syndrome, Autosomal Recessive, also known as tyrosine hydroxylase deficiency, is related to dystonia, dopa-responsive and myotonia congenita, autosomal dominant, and has symptoms including tremor, gait ataxia and abnormality of extrapyramidal motor function. An important gene associated with Segawa Syndrome, Autosomal Recessive is TH (Tyrosine Hydroxylase), and among its related pathways/superpathways are Type II diabetes mellitus and ATF-2 transcription factor network. Affiliated tissues include testes, brain and fetal brain, and related phenotypes are ptosis and constipation

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 : ⁵⁷ Segawa syndrome is an autosomal recessive neurologic disorder characterized by onset in infancy of dopa-responsive dystonia. There are 2 main phenotypes: one is a severe complex encephalopathy apparent in the perinatal period, with diurnal fluctuations and autonomic disturbances, and the other shows a less severe course with onset in the first year of life of a progressive hypokinetic-rigid syndrome and generalized dystonia. The less severe type shows a better response to levodopa compared to the more severe type (summary by Stamelou et al., 2012). See also infantile parkinsonism-dystonia syndrome (613135), caused by mutation in the SLC6A3 gene (126455). (605407)

UniProtKB/Swiss-Prot : ⁷⁵ 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: NBK1437

Clinical features from OMIM:

605407

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