ARSEGS
MCID: SGW003
MIFTS: 33

Segawa Syndrome, Recessive (ARSEGS) malady

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

Aliases & Classifications for Segawa Syndrome, Recessive

Aliases & Descriptions for Segawa Syndrome, Recessive:

Name: Segawa Syndrome, Recessive 54 13
Tyrosine Hydroxylase Deficiency 23 50 24 25 56 66
Autosomal Recessive Infantile Parkinsonism 24 25 66
Segawa Syndrome, Autosomal Recessive 54 50 25
Dystonia, Dopa-Responsive, Autosomal Recessive 66 52
Autosomal Recessive Dopa-Responsive Dystonia 56 66
Segawa Syndrome Autosomal Recessive 66 29
Dystonia, Dopa-Responsive, with or Without Hyperphenylalaninemia, Autosomal Recessive 69
Tyrosine Hydroxylase-Deficient Dopa-Responsive Dystonia 56
Dystonia, Dopa Responsive, Autosomal Recessive 50
Dopa Responsive Dystonia, Autosomal Recessive 50
Parkinsonism, Infantile, Autosomal Recessive 50
Autosomal Recessive Segawa Syndrome 56
Tyrosine Hydroxylase 13
Th-Deficient Drd 25
Th Deficiency 25
Arsegs 66
Dyt5b 56
Thd 66

Characteristics:

Orphanet epidemiological data:

56
autosomal recessive dopa-responsive dystonia
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Europe); Age of onset: Infancy,Neonatal;

GeneReviews:

23
segawa syndrome, recessive:
Inheritance autosomal recessive inheritance
Onset and clinical course variable expressivity infantile onset


GeneReviews:

23
Penetrance Penetrance appears to be complete in individuals with biallelic th pathogenic variants...

Classifications:



External Ids:

OMIM 54 605407
Orphanet 56 ORPHA101150
ICD10 via Orphanet 34 G24.1
MedGen 40 C1854299
MeSH 42 D020734

Summaries for Segawa Syndrome, Recessive

NIH Rare Diseases : 50 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 parkinsonism-dystonia, infantile, and has symptoms including myoclonus, tremor and gait ataxia. 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 : 54 Segawa syndrome is an autosomal recessive neurologic disorder characterized by onset in infancy of dopa-responsive... (605407) more...

UniProtKB/Swiss-Prot : 66 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

Related Diseases for Segawa Syndrome, Recessive

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



Diseases related to Segawa Syndrome, Recessive

Symptoms & Phenotypes for Segawa Syndrome, Recessive

Symptoms by clinical synopsis from OMIM:

605407

Clinical features from OMIM:

605407

Human phenotypes related to Segawa Syndrome, Recessive:

32 (show all 14)
id Description HPO Frequency HPO Source Accession
1 myoclonus 32 HP:0001336
2 tremor 32 HP:0001337
3 gait ataxia 32 HP:0002066
4 ptosis 32 HP:0000508
5 delayed speech and language development 32 HP:0000750
6 mask-like facies 32 HP:0000298
7 rigidity 32 HP:0002063
8 motor delay 32 HP:0001270
9 hypokinesia 32 HP:0002375
10 parkinsonism 32 HP:0001300
11 limb dystonia 32 HP:0002451
12 muscular hypotonia of the trunk 32 HP:0008936
13 parkinsonism with favorable response to dopaminergic medication 32 HP:0002548
14 decreased csf homovanillic acid 32 HP:0003785

UMLS symptoms related to Segawa Syndrome, Recessive:


muscle rigidity, tremor, abnormality of extrapyramidal motor function, dystonia, limb, gait ataxia

Drugs & Therapeutics for Segawa Syndrome, Recessive

Search Clinical Trials , NIH Clinical Center for Segawa Syndrome, Recessive

Genetic Tests for Segawa Syndrome, Recessive

Genetic tests related to Segawa Syndrome, Recessive:

id Genetic test Affiliating Genes
1 Segawa Syndrome, Autosomal Recessive 29
2 Tyrosine Hydroxylase Deficiency 24 TH
3 Autosomal Recessive Infantile Parkinsonism 24

Anatomical Context for Segawa Syndrome, Recessive

Publications for Segawa Syndrome, Recessive

Variations for Segawa Syndrome, Recessive

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

66 (show all 38)
id Symbol AA change Variation ID SNP ID
1 TH p.Arg233His VAR_014026 rs80338892
2 TH p.Leu236Pro VAR_014027 rs121917763
3 TH p.Thr276Pro VAR_014028 rs28934581
4 TH p.Thr314Met VAR_014029 rs121917764
5 TH p.Arg337His VAR_014030 rs28934580
6 TH p.Gln412Lys VAR_014031 rs121917762
7 TH p.Thr494Met VAR_014032 rs45471299
8 TH p.Pro251Leu VAR_071715
9 TH p.Cys279Phe VAR_071716
10 TH p.Arg296Gln VAR_071717 rs199961079
11 TH p.Gly315Ser VAR_071718
12 TH p.Ile382Thr VAR_071719
13 TH p.Gly428Arg VAR_071720
14 TH p.Cys207Tyr VAR_072863
15 TH p.Asp227Gly VAR_072864
16 TH p.Ala241Thr VAR_072865
17 TH p.His246Tyr VAR_072866
18 TH p.Gly247Ser VAR_072867 rs762304556
19 TH p.Glu259Gly VAR_072868
20 TH p.Gly294Arg VAR_072869 rs755536257
21 TH p.Pro301Ala VAR_072870
22 TH p.Phe309Ser VAR_072871
23 TH p.Arg319Pro VAR_072872
24 TH p.Arg328Trp VAR_072873
25 TH p.Cys359Phe VAR_072874 rs121917765
26 TH p.Phe375Leu VAR_072875
27 TH p.Ala376Val VAR_072876
28 TH p.Ala385Val VAR_072877 rs763039181
29 TH p.Leu387Met VAR_072878
30 TH p.Ile394Thr VAR_072879
31 TH p.Thr399Met VAR_072880
32 TH p.Gly408Arg VAR_072881 rs745551241
33 TH p.Gly414Arg VAR_072882 rs370962049
34 TH p.Arg441Pro VAR_072883 rs367874223
35 TH p.Ser467Gly VAR_072884
36 TH p.Pro492Leu VAR_072885 rs767635052
37 TH p.Asp498Gly VAR_072886 rs771351747
38 TH p.Leu510Gln VAR_072887

ClinVar genetic disease variations for Segawa Syndrome, Recessive:

6 (show all 29)
id Gene Variation Type Significance SNP ID Assembly Location
1 GCH1 GCH1, 1-BP DEL, 351A deletion Pathogenic
2 GCH1 NM_000161.2(GCH1): c.662T> C (p.Met221Thr) single nucleotide variant Pathogenic rs104894434 GRCh37 Chromosome 14, 55310826: 55310826
3 GCH1 NM_000161.2(GCH1): c.323G> A (p.Gly108Asp) single nucleotide variant Pathogenic rs104894435 GRCh37 Chromosome 14, 55369059: 55369059
4 GCH1 NM_000161.2(GCH1): c.671A> G (p.Lys224Arg) single nucleotide variant Pathogenic rs41298442 GRCh37 Chromosome 14, 55310817: 55310817
5 GCH1 NM_000161.2(GCH1): c.747G> C (p.Arg249Ser) single nucleotide variant Pathogenic rs104894442 GRCh37 Chromosome 14, 55310741: 55310741
6 GCH1 NM_000161.2(GCH1): c.595C> G (p.Pro199Ala) single nucleotide variant Pathogenic rs137852633 GRCh37 Chromosome 14, 55312517: 55312517
7 TH NM_199292.2(TH): c.1234C> A (p.Gln412Lys) single nucleotide variant Pathogenic/Likely pathogenic rs121917762 GRCh37 Chromosome 11, 2186957: 2186957
8 TH NM_199292.2(TH): c.707T> C (p.Leu236Pro) single nucleotide variant Pathogenic/Likely pathogenic rs121917763 GRCh37 Chromosome 11, 2189126: 2189126
9 TH NM_199292.2(TH): c.1481C> T (p.Thr494Met) single nucleotide variant Pathogenic/Likely pathogenic rs45471299 GRCh37 Chromosome 11, 2185569: 2185569
10 TH NM_199292.2(TH): c.698G> A (p.Arg233His) single nucleotide variant Pathogenic rs80338892 GRCh37 Chromosome 11, 2189135: 2189135
11 TH NM_199292.2(TH): c.1010G> A (p.Arg337His) single nucleotide variant Pathogenic rs28934580 GRCh37 Chromosome 11, 2187923: 2187923
12 TH NM_199292.2(TH): c.826A> C (p.Thr276Pro) single nucleotide variant Pathogenic rs28934581 GRCh37 Chromosome 11, 2188225: 2188225
13 TH NM_199292.2(TH): c.941C> T (p.Thr314Met) single nucleotide variant Pathogenic rs121917764 GRCh37 Chromosome 11, 2187992: 2187992
14 TH NM_199292.2(TH): c.1198-24T> A single nucleotide variant Pathogenic rs587776767 GRCh37 Chromosome 11, 2187017: 2187017
15 TH TH, 1-BP DEL, 291C deletion Pathogenic
16 TH TH, -70G-A single nucleotide variant Pathogenic
17 TH NM_199292.2(TH): c.1076G> T (p.Cys359Phe) single nucleotide variant Pathogenic rs121917765 GRCh37 Chromosome 11, 2187774: 2187774
18 TH NM_000360.3(TH): c.1282C> T (p.Gln428Ter) single nucleotide variant Likely pathogenic rs786204540 GRCh38 Chromosome 11, 2165284: 2165284
19 TH NM_000360.3(TH): c.283delG (p.Ala95Argfs) deletion Pathogenic rs797045111 GRCh38 Chromosome 11, 2169679: 2169679
20 TH NM_000360.3(TH): c.1400A> G (p.Asp467Gly) single nucleotide variant Likely pathogenic rs771351747 GRCh38 Chromosome 11, 2164327: 2164327
21 TH NM_000360.3(TH): c.1104+1G> A single nucleotide variant Likely pathogenic rs1057516819 GRCh38 Chromosome 11, 2166001: 2166001
22 TH NM_000360.3(TH): c.997delC (p.Leu333Trpfs) deletion Likely pathogenic rs1057517162 GRCh38 Chromosome 11, 2166530: 2166530
23 TH NM_000360.3(TH): c.977+1G> A single nucleotide variant Likely pathogenic rs1057516736 GRCh38 Chromosome 11, 2166632: 2166632
24 TH NM_000360.3(TH): c.921delG (p.Phe308Serfs) deletion Likely pathogenic rs1057516491 GRCh37 Chromosome 11, 2187919: 2187919
25 TH NM_000360.3(TH): c.717delG (p.Lys240Argfs) deletion Likely pathogenic rs1057516712 GRCh38 Chromosome 11, 2167011: 2167011
26 TH NM_000360.3(TH): c.601C> T (p.Gln201Ter) single nucleotide variant Pathogenic rs1057517423 GRCh38 Chromosome 11, 2167909: 2167909
27 TH NM_000360.3(TH): c.487+2T> C single nucleotide variant Likely pathogenic rs1057517003 GRCh38 Chromosome 11, 2168489: 2168489
28 TH NM_000360.3(TH): c.91-9_107del26 deletion Likely pathogenic rs1057516874 GRCh38 Chromosome 11, 2169855: 2169880
29 TH NM_000360.3(TH): c.12dupC (p.Asp5Argfs) duplication Likely pathogenic rs1057516716 GRCh38 Chromosome 11, 2171775: 2171775

Expression for Segawa Syndrome, Recessive

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

Pathways for Segawa Syndrome, Recessive

GO Terms for Segawa Syndrome, Recessive

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

id Name GO ID Score Top Affiliating Genes
1 cytoplasmic vesicle GO:0031410 8.62 GCH1 TH

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

id Name GO ID Score Top Affiliating Genes
1 response to lipopolysaccharide GO:0032496 8.96 GCH1 TH
2 dopamine biosynthetic process GO:0042416 8.62 GCH1 TH

Sources for Segawa Syndrome, Recessive

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
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37 KEGG
38 LifeMap
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42 MeSH
43 MESH via Orphanet
44 MGI
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48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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