MCID: SGW003
MIFTS: 33

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 51 12
Tyrosine Hydroxylase Deficiency 23 47 24 25 53 69
Autosomal Recessive Infantile Parkinsonism 24 25 69
Segawa Syndrome, Autosomal Recessive 51 47 25
Dystonia, Dopa-Responsive, Autosomal Recessive 69 49
Autosomal Recessive Dopa-Responsive Dystonia 53 69
Segawa Syndrome Autosomal Recessive 69 26
Dystonia, Dopa-Responsive, with or Without Hyperphenylalaninemia, Autosomal Recessive 67
Tyrosine Hydroxylase-Deficient Dopa-Responsive Dystonia 53
Dystonia, Dopa Responsive, Autosomal Recessive 47
 
Dopa Responsive Dystonia, Autosomal Recessive 47
Parkinsonism, Infantile, Autosomal Recessive 47
Autosomal Recessive Segawa Syndrome 53
Generalized Myotonia of Thomsen 67
Tyrosine Hydroxylase 12
Th-Deficient Drd 25
Th Deficiency 25
Arsegs 69
Dyt5b 53
Thd 69

Characteristics:

Orphanet epidemiological data:

53
tyrosine hydroxylase deficiency:
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Europe); Age of onset: Infancy,Neonatal

HPO:

63
segawa syndrome, recessive:
Inheritance: autosomal recessive inheritance
Onset and clinical course: infantile onset, variable expressivity

GeneReviews:

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


Classifications:



External Ids:

OMIM51 605407
Orphanet53 ORPHA101150
ICD10 via Orphanet30 G24.1
MedGen36 C1854299
MeSH38 D020734

Summaries for Segawa Syndrome, Recessive

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NIH Rare Diseases:47 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 myotonia congenita, dominant and tyrosine hydroxylase-deficient dopa-responsive dystonia, and has symptoms including myoclonus, mask-like facies and ptosis. 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:51 Segawa syndrome is an autosomal recessive neurologic disorder characterized by onset in infancy of dopa-responsive... (605407) more...

UniProtKB/Swiss-Prot:69 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 for NBK1437

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
1myotonia congenita, dominant11.0
2tyrosine hydroxylase-deficient dopa-responsive dystonia11.0
3parkinsonism-dystonia, infantile11.0
4dystonia10.2
549, xxxxx9.5GCH1, TH
6parkinson disease, late-onset9.5GCH1, TH
7noonan syndrome 19.5GCH1, TH
8urinary tract papillary transitional cell benign neoplasm9.3GCH1, TH

Graphical network of 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

Human phenotypes related to Segawa Syndrome, Recessive:

 63 (show all 15)
id Description HPO Frequency HPO Source Accession
1 myoclonus63 rare (5%) HP:0001336
2 mask-like facies63 HP:0000298
3 ptosis63 HP:0000508
4 delayed speech and language development63 HP:0000750
5 motor delay63 HP:0001270
6 parkinsonism63 HP:0001300
7 tremor63 HP:0001337
8 rigidity63 HP:0002063
9 gait ataxia63 HP:0002066
10 hypokinesia63 HP:0002375
11 limb dystonia63 HP:0002451
12 parkinsonism with favorable response to dopaminergic medication63 HP:0002548
13 decreased csf homovanillic acid63 HP:0003785
14 obsolete involuntary jerking movements63 HP:0007087
15 muscular hypotonia of the trunk63 HP:0008936

UMLS symptoms related to Segawa Syndrome, Recessive:


muscle rigidity, tremor, hypokinesia, extrapyramidal sign, dystonia, limb, gait ataxia, muscular stiffness, lid lag

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 Segawa Syndrome, Autosomal Recessive26
2 Tyrosine Hydroxylase Deficiency24 TH
3 Autosomal Recessive Infantile Parkinsonism24

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:

69 (show all 38)
id Symbol AA change Variation ID SNP ID
1THp.Arg233HisVAR_014026rs80338892
2THp.Leu236ProVAR_014027rs121917763
3THp.Thr276ProVAR_014028rs28934581
4THp.Thr314MetVAR_014029rs121917764
5THp.Arg337HisVAR_014030rs28934580
6THp.Gln412LysVAR_014031rs121917762
7THp.Thr494MetVAR_014032rs45471299
8THp.Pro251LeuVAR_071715
9THp.Cys279PheVAR_071716
10THp.Arg296GlnVAR_071717rs199961079
11THp.Gly315SerVAR_071718
12THp.Ile382ThrVAR_071719
13THp.Gly428ArgVAR_071720
14THp.Cys207TyrVAR_072863
15THp.Asp227GlyVAR_072864
16THp.Ala241ThrVAR_072865
17THp.His246TyrVAR_072866
18THp.Gly247SerVAR_072867rs762304556
19THp.Glu259GlyVAR_072868
20THp.Gly294ArgVAR_072869rs755536257
21THp.Pro301AlaVAR_072870
22THp.Phe309SerVAR_072871
23THp.Arg319ProVAR_072872
24THp.Arg328TrpVAR_072873
25THp.Cys359PheVAR_072874rs121917765
26THp.Phe375LeuVAR_072875
27THp.Ala376ValVAR_072876
28THp.Ala385ValVAR_072877rs763039181
29THp.Leu387MetVAR_072878
30THp.Ile394ThrVAR_072879
31THp.Thr399MetVAR_072880
32THp.Gly408ArgVAR_072881rs745551241
33THp.Gly414ArgVAR_072882rs370962049
34THp.Arg441ProVAR_072883rs367874223
35THp.Ser467GlyVAR_072884
36THp.Pro492LeuVAR_072885rs767635052
37THp.Asp498GlyVAR_072886rs771351747
38THp.Leu510GlnVAR_072887

Clinvar genetic disease variations for Segawa Syndrome, Recessive:

5 (show all 29)
id Gene Variation Type Significance SNP ID Assembly Location
1THNM_199292.2(TH): c.1234C> A (p.Gln412Lys)SNVLikely pathogenic, Pathogenicrs121917762GRCh37Chr 11, 2186957: 2186957
2THNM_199292.2(TH): c.707T> C (p.Leu236Pro)SNVLikely pathogenic, Pathogenicrs121917763GRCh37Chr 11, 2189126: 2189126
3THNM_199292.2(TH): c.1481C> T (p.Thr494Met)SNVPathogenicrs45471299GRCh37Chr 11, 2185569: 2185569
4THNM_199292.2(TH): c.698G> A (p.Arg233His)SNVPathogenicrs80338892GRCh37Chr 11, 2189135: 2189135
5THNM_199292.2(TH): c.1010G> A (p.Arg337His)SNVPathogenicrs28934580GRCh37Chr 11, 2187923: 2187923
6THNM_199292.2(TH): c.826A> C (p.Thr276Pro)SNVPathogenicrs28934581GRCh37Chr 11, 2188225: 2188225
7THNM_199292.2(TH): c.941C> T (p.Thr314Met)SNVPathogenicrs121917764GRCh37Chr 11, 2187992: 2187992
8THNM_199292.2(TH): c.1198-24T> ASNVPathogenicrs587776767GRCh37Chr 11, 2187017: 2187017
9THTH, 1-BP DEL, 291CdeletionPathogenicChr na, -1: -1
10THTH, -70G-ASNVPathogenicChr na, -1: -1
11THNM_199292.2(TH): c.1076G> T (p.Cys359Phe)SNVPathogenicrs121917765GRCh37Chr 11, 2187774: 2187774
12THNM_000360.3(TH): c.1282C> T (p.Gln428Ter)SNVLikely pathogenicrs786204540GRCh38Chr 11, 2165284: 2165284
13THNM_000360.3(TH): c.283delG (p.Ala95Argfs)deletionPathogenicrs797045111GRCh38Chr 11, 2169679: 2169679
14THNM_000360.3(TH): c.1400A> G (p.Asp467Gly)SNVLikely pathogenicrs771351747GRCh38Chr 11, 2164327: 2164327
15THNM_000360.3: c.921delGdeletionLikely pathogenicChr na, -1: -1
16THNM_000360.3: c.717delGdeletionLikely pathogenicChr na, -1: -1
17THNM_000360.3: c.12dupCduplicationLikely pathogenicChr na, -1: -1
18THNM_000360.3: c.977+1G> ASNVLikely pathogenicChr na, -1: -1
19THNM_000360.3: c.1104+1G> ASNVLikely pathogenicChr na, -1: -1
20THNM_000360.3: c.91-9_107del26deletionLikely pathogenicChr na, -1: -1
21THNM_000360.3: c.487+2T> CSNVLikely pathogenicChr na, -1: -1
22THNM_000360.3: c.997delCdeletionLikely pathogenicChr na, -1: -1
23THNM_000360.3: c.601C> TSNVPathogenicChr na, -1: -1
24GCH1GCH1, 1-BP DEL, 351AdeletionPathogenicChr na, -1: -1
25GCH1NM_000161.2(GCH1): c.662T> C (p.Met221Thr)SNVPathogenicrs104894434GRCh37Chr 14, 55310826: 55310826
26GCH1NM_000161.2(GCH1): c.323G> A (p.Gly108Asp)SNVPathogenicrs104894435GRCh37Chr 14, 55369059: 55369059
27GCH1NM_000161.2(GCH1): c.671A> G (p.Lys224Arg)SNVPathogenicrs41298442GRCh37Chr 14, 55310817: 55310817
28GCH1NM_000161.2(GCH1): c.747G> C (p.Arg249Ser)SNVPathogenicrs104894442GRCh37Chr 14, 55310741: 55310741
29GCH1NM_000161.2(GCH1): c.595C> G (p.Pro199Ala)SNVPathogenicrs137852633GRCh37Chr 14, 55312517: 55312517

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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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
1response to lipopolysaccharideGO:00324969.1GCH1, TH
2dopamine biosynthetic processGO:00424168.8GCH1, TH

Sources for Segawa Syndrome, Recessive

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet