MCID: SGW003
MIFTS: 38

Segawa Syndrome, Recessive malady

Genetic diseases, Rare diseases, Neuronal diseases, Metabolic diseases categories

Summaries for Segawa Syndrome, Recessive

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NIH Rare Diseases:41 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 parkinsonism-dystonia, infantile, and has symptoms including myoclonus, autosomal recessive inheritance and mask-like facies. An important gene associated with Segawa Syndrome, Recessive is TH (tyrosine hydroxylase). The compounds 6-pyruvoyltetrahydropterin and 4a-hydroxytetrahydrobiopterin have been mentioned in the context of this disorder.

Genetics Home Reference:21 Tyrosine hydroxylase (TH) deficiency is a disorder that primarily affects movement, with symptoms that may range from mild to severe.

OMIM:45 Segawa syndrome is an autosomal recessive neurologic disorder characterized by onset in infancy of dopa-responsive... (605407) more...

GeneReviews summary for thdrd

Aliases & Classifications for Segawa Syndrome, Recessive

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Sources:
45OMIM, 10diseasecard, 41NIH Rare Diseases, 21Genetics Home Reference, 19GeneReviews, 20GeneTests, 47Orphanet, 22GTR, 43Novoseek, 60UMLS, 26ICD10 via Orphanet
See all sources

Segawa Syndrome, Recessive, Aliases & Descriptions:

Name: Segawa Syndrome, Recessive 45 10
Tyrosine Hydroxylase Deficiency 19 41 20 21 47
Tyrosine Hydroxylase-Deficient Dopa-Responsive Dystonia 41 20 47
Segawa Syndrome, Autosomal Recessive 45 41 21
Autosomal Recessive Segawa Syndrome 41 47 22
Autosomal Recessive Dopa-Responsive Dystonia 41 47
Parkinsonism, Infantile, Autosomal Recessive 41 20
Dyt5b 41 47
 
Dystonia, Dopa-Responsive, with or Without Hyperphenylalaninemia, Autosomal Recessive 60
Dystonia, Dopa-Responsive, Autosomal Recessive 43
Dystonia, Dopa Responsive, Autosomal Recessive 41
Dopa Responsive Dystonia, Autosomal Recessive 41
Autosomal Recessive Infantile Parkinsonism 21
Th-Deficient Drd 21
Th Deficiency 21


Classifications:



Characteristics (Orphanet epidemiological data):

47
tyrosine hydroxylase deficiency:
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Europe); Age of onset: Infancy,Neonatal


External Ids:

OMIM45 605407
Orphanet47 101150
ICD10 via Orphanet26 G24.1

Related Diseases for Segawa Syndrome, Recessive

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Diseases related to Segawa Syndrome, Recessive via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1dystonia10.5
2parkinsonism-dystonia, infantile10.3
3myoclonus10.2
4gtp cyclohydrolase i deficiency9.9GCH1, TH
5hyperphenylalaninemia9.9GCH1, TH
6movement disease9.9TH, GCH1
7parkinson disease, late-onset9.9TH, GCH1
8bipolar disorder9.8TH, GCH1
9pheochromocytoma9.7GCH1, TH

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 18)
id Description Frequency HPO Source Accession
1 myoclonus rare (5%) HP:0001336
2 autosomal recessive inheritance HP:0000007
3 mask-like facies HP:0000298
4 ptosis HP:0000508
5 delayed speech and language development HP:0000750
6 motor delay HP:0001270
7 parkinsonism HP:0001300
8 tremor HP:0001337
9 rigidity HP:0002063
10 gait ataxia HP:0002066
11 hypokinesia HP:0002375
12 limb dystonia HP:0002451
13 parkinsonism with favorable response to dopaminergic medication HP:0002548
14 infantile onset HP:0003593
15 decreased csf homovanillic acid (hva) HP:0003785
16 variable expressivity HP:0003828
17 involuntary jerking movements HP:0007087
18 muscular hypotonia of the trunk HP:0008936

Drugs & Therapeutics for Segawa Syndrome, Recessive

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Drug clinical trials:

Search ClinicalTrials for Segawa Syndrome, Recessive

Search 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 Deficiency20 TH
2 Tyrosine Hydroxylase-Deficient Dopa-Responsive Dystonia20 TH
3 Autosomal Recessive Infantile Parkinsonism20
4 Segawa Syndrome, Autosomal Recessive22

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:

62 (show all 13)
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

Clinvar genetic disease variations for Segawa Syndrome, Recessive:

6 (show all 11)
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
8THTH, 1-BP DEL, 291CdeletionPathogenic
9THTH, -70G-Asingle nucleotide variantPathogenic
10THNM_199292.2(TH): c.1076G> T (p.Cys359Phe)single nucleotide variantPathogenicrs121917765GRCh37Chr 11, 2187774: 2187774
11GCH1NM_000161.2(GCH1): c.671A> G (p.Lys224Arg)single nucleotide variantPathogenicrs41298442GRCh37Chr 14, 55310817: 55310817

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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Compounds for genes affiliated with Segawa Syndrome, Recessive

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Sources:
43Novoseek, 24HMDB, 12DrugBank, 28IUPHAR
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Compounds related to Segawa Syndrome, Recessive according to GeneCards Suite gene sharing:

(show all 20)
idCompoundScoreTop Affiliating Genes
16-pyruvoyltetrahydropterin439.5GCH1, TH
24a-hydroxytetrahydrobiopterin43 2410.5GCH1, TH
3dihydrobiopterin43 2410.5TH, GCH1
4dihydropteridine43 2410.4TH, GCH1
5pteridine439.4GCH1, TH
6sepiapterin43 2410.4TH, GCH1
7l-amino acid439.4GCH1, TH
8tetrahydrobiopterin43 24 1211.4GCH1, TH
9mptp439.4TH, GCH1
10levodopa43 1210.4GCH1, TH
11catecholamine439.4TH, GCH1
12phenylalanine439.3GCH1, TH
13epinephrine43 24 1211.3GCH1, TH
14norepinephrine43 24 1211.3TH, GCH1
15gtp43 2810.2GCH1, TH
16dopamine43 28 24 1212.2TH, GCH1
17h2o2439.1GCH1, TH
18estrogen439.1GCH1, TH
19Water249.0GCH1, TH
20oxygen43 249.8GCH1, TH

GO Terms for genes affiliated with Segawa Syndrome, Recessive

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Cellular components related to Segawa Syndrome, Recessive according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1cytoplasmic vesicleGO:00314109.1GCH1, TH

Biological processes related to Segawa Syndrome, Recessive according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1small molecule metabolic processGO:00442819.1GCH1, TH
2dopamine biosynthetic processGO:00424169.0GCH1, TH
3response to lipopolysaccharideGO:00324968.8GCH1, TH

Products for genes affiliated with Segawa Syndrome, Recessive

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Sources for Segawa Syndrome, Recessive

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet