ARSEGS
MCID: SGW002
MIFTS: 54
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Segawa Syndrome, Autosomal Recessive (ARSEGS)
Categories:
Genetic diseases, Metabolic diseases, Neuronal diseases, Rare diseases
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MalaCards integrated aliases for Segawa Syndrome, Autosomal Recessive:
Characteristics:Orphanet epidemiological data:59
autosomal recessive dopa-responsive dystonia
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Europe); Age of onset: Infancy,Neonatal; OMIM:57
Inheritance:
autosomal recessive
Miscellaneous:
variable severity onset in infancy or early childhood favorable response to l-dopa see also autosomal dominant form HPO:32
segawa syndrome, autosomal recessive:
Onset and clinical course variable expressivity infantile onset Inheritance autosomal recessive inheritance GeneReviews:24
Penetrance
Penetrance appears to be complete in individuals with biallelic th pathogenic variants...
Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases Anatomical: Neuronal diseases
ICD10:
34
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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
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Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:605407Human phenotypes related to Segawa Syndrome, Autosomal Recessive:59 32 (show all 37)
UMLS symptoms related to Segawa Syndrome, Autosomal Recessive:tremor, gait ataxia, abnormality of extrapyramidal motor function, muscle rigidity, dystonia, limb |
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MalaCards organs/tissues related to Segawa Syndrome, Autosomal Recessive:41
Testes,
Brain,
Fetal Brain,
Thyroid
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Articles related to Segawa Syndrome, Autosomal Recessive:(show all 30)
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UniProtKB/Swiss-Prot genetic disease variations for Segawa Syndrome, Autosomal Recessive:75 (show all 38)
ClinVar genetic disease variations for Segawa Syndrome, Autosomal Recessive:6 (show top 50) (show all 233)
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Search
GEO
for disease gene expression data for Segawa Syndrome, Autosomal Recessive.
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Biological processes related to Segawa Syndrome, Autosomal Recessive according to GeneCards Suite gene sharing:
Molecular functions related to Segawa Syndrome, Autosomal Recessive according to GeneCards Suite gene sharing:
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