MCID: SGW003
MIFTS: 32

Segawa Syndrome, Recessive malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Metabolic diseases

Aliases & Classifications for Segawa Syndrome, Recessive

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Aliases & Descriptions for Segawa Syndrome, Recessive:

Name: Segawa Syndrome, Recessive 49 11
Tyrosine Hydroxylase Deficiency 21 45 22 23 51 67
Autosomal Recessive Infantile Parkinsonism 22 23 67
Dystonia, Dopa-Responsive, Autosomal Recessive 47 67
Autosomal Recessive Dopa-Responsive Dystonia 51 67
Segawa Syndrome, Autosomal Recessive 45 23
Segawa Syndrome Autosomal Recessive 67 24
Dystonia, Dopa-Responsive, with or Without Hyperphenylalaninemia, Autosomal Recessive 65
Tyrosine Hydroxylase-Deficient Dopa-Responsive Dystonia 51
Dystonia, Dopa Responsive, Autosomal Recessive 45
 
Dopa Responsive Dystonia, Autosomal Recessive 45
Parkinsonism, Infantile, Autosomal Recessive 45
Autosomal Recessive Segawa Syndrome 51
Generalized Myotonia of Thomsen 65
Th-Deficient Drd 23
Th Deficiency 23
Arsegs 67
Dyt5b 51
Thd 67

Characteristics:

Orphanet epidemiological data:

51
tyrosine hydroxylase deficiency:
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Europe); Age of onset: Infancy,Neonatal

HPO:

61
segawa syndrome, recessive:
Onset and clinical course: variable expressivity, infantile onset
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM49 605407
Orphanet51 101150
ICD10 via Orphanet28 G24.1
MedGen34 C1854299
MeSH36 D020734
UMLS65 C2673535, C2936781

Summaries for Segawa Syndrome, Recessive

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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 tyrosine hydroxylase-deficient dopa-responsive dystonia and myotonia congenita, dominant, and has symptoms including myoclonus, muscular hypotonia of the trunk and involuntary jerking movements. An important gene associated with Segawa Syndrome, Recessive is TH (Tyrosine Hydroxylase).

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.

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...

GeneReviews summary for NBK1437

Related Diseases for Segawa Syndrome, Recessive

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Graphical network of the top 20 diseases related to Segawa Syndrome, Recessive:



Diseases related to segawa syndrome, recessive

Symptoms for Segawa Syndrome, Recessive

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Symptoms by clinical synopsis from OMIM:

605407

Clinical features from OMIM:

605407

HPO human phenotypes related to Segawa Syndrome, Recessive:

(show all 15)
id Description Frequency HPO Source Accession
1 myoclonus rare (5%) HP:0001336
2 muscular hypotonia of the trunk HP:0008936
3 involuntary jerking movements HP:0007087
4 decreased csf homovanillic acid (hva) HP:0003785
5 parkinsonism with favorable response to dopaminergic medication HP:0002548
6 limb dystonia HP:0002451
7 hypokinesia HP:0002375
8 gait ataxia HP:0002066
9 rigidity HP:0002063
10 tremor HP:0001337
11 parkinsonism HP:0001300
12 motor delay HP:0001270
13 delayed speech and language development HP:0000750
14 ptosis HP:0000508
15 mask-like facies HP:0000298

Drugs & Therapeutics for Segawa Syndrome, Recessive

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Segawa Syndrome, Recessive

Genetic Tests for Segawa Syndrome, Recessive

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Genetic tests related to Segawa Syndrome, Recessive:

id Genetic test Affiliating Genes
1 Tyrosine Hydroxylase Deficiency22 TH
2 Autosomal Recessive Infantile Parkinsonism22

Anatomical Context for Segawa Syndrome, Recessive

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Animal Models for Segawa Syndrome, Recessive or affiliated genes

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Publications for Segawa Syndrome, Recessive

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Variations for Segawa Syndrome, Recessive

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UniProtKB/Swiss-Prot genetic disease variations for Segawa Syndrome, Recessive:

67 (show all 38)
id Symbol AA change Variation ID SNP ID
1THp.Arg233HisVAR_014026
2THp.Leu236ProVAR_014027
3THp.Thr276ProVAR_014028rs28934581
4THp.Thr314MetVAR_014029
5THp.Arg337HisVAR_014030rs28934580
6THp.Gln412LysVAR_014031
7THp.Thr494MetVAR_014032rs45471299
8THp.Pro251LeuVAR_071715
9THp.Cys279PheVAR_071716
10THp.Arg296GlnVAR_071717
11THp.Gly315SerVAR_071718
12THp.Ile382ThrVAR_071719
13THp.Gly428ArgVAR_071720
14THp.Cys207TyrVAR_072863
15THp.Asp227GlyVAR_072864
16THp.Ala241ThrVAR_072865
17THp.His246TyrVAR_072866
18THp.Gly247SerVAR_072867
19THp.Glu259GlyVAR_072868
20THp.Gly294ArgVAR_072869
21THp.Pro301AlaVAR_072870
22THp.Phe309SerVAR_072871
23THp.Arg319ProVAR_072872
24THp.Arg328TrpVAR_072873
25THp.Cys359PheVAR_072874
26THp.Phe375LeuVAR_072875
27THp.Ala376ValVAR_072876
28THp.Ala385ValVAR_072877
29THp.Leu387MetVAR_072878
30THp.Ile394ThrVAR_072879
31THp.Thr399MetVAR_072880
32THp.Gly408ArgVAR_072881
33THp.Gly414ArgVAR_072882
34THp.Arg441ProVAR_072883
35THp.Ser467GlyVAR_072884
36THp.Pro492LeuVAR_072885
37THp.Asp498GlyVAR_072886
38THp.Leu510GlnVAR_072887

Clinvar genetic disease variations for Segawa Syndrome, Recessive:

5 (show all 13)
id Gene Variation Type Significance SNP ID Assembly Location
1THNM_199292.2(TH): c.1234C> A (p.Gln412Lys)single nucleotide variantPathogenicrs121917762GRCh37Chr 11, 2186957: 2186957
2THNM_199292.2(TH): c.707T> C (p.Leu236Pro)single nucleotide variantPathogenicrs121917763GRCh37Chr 11, 2189126: 2189126
3THNM_199292.2(TH): c.1481C> T (p.Thr494Met)single nucleotide variantPathogenicrs45471299GRCh37Chr 11, 2185569: 2185569
4THNM_199292.2(TH): c.698G> A (p.Arg233His)single nucleotide variantPathogenicrs80338892GRCh37Chr 11, 2189135: 2189135
5THNM_199292.2(TH): c.1010G> A (p.Arg337His)single nucleotide variantPathogenicrs28934580GRCh37Chr 11, 2187923: 2187923
6THNM_199292.2(TH): c.826A> C (p.Thr276Pro)single nucleotide variantPathogenicrs28934581GRCh37Chr 11, 2188225: 2188225
7THNM_199292.2(TH): c.941C> T (p.Thr314Met)single nucleotide variantPathogenicrs121917764GRCh37Chr 11, 2187992: 2187992
8THNM_199292.2(TH): c.1198-24T> Asingle nucleotide variantPathogenicrs587776767GRCh37Chr 11, 2187017: 2187017
9THTH, 1-BP DEL, 291CdeletionPathogenic
10THTH, -70G-Asingle nucleotide variantPathogenic
11THNM_199292.2(TH): c.1076G> T (p.Cys359Phe)single nucleotide variantPathogenicrs121917765GRCh37Chr 11, 2187774: 2187774
12THNM_000360.3(TH): c.1282C> T (p.Gln428Ter)single nucleotide variantLikely pathogenicrs786204540GRCh37Chr 11, 2186514: 2186514
13THNM_000360.3(TH): c.283delG (p.Ala95Argfs)deletionPathogenicrs797045111GRCh38Chr 11, 2169679: 2169679

Expression for genes affiliated with Segawa Syndrome, Recessive

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Search GEO for disease gene expression data for Segawa Syndrome, Recessive.

Pathways for genes affiliated with Segawa Syndrome, Recessive

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GO Terms for genes affiliated with Segawa Syndrome, Recessive

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Sources for Segawa Syndrome, Recessive

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet