ARSEGS
MCID: SGW002
MIFTS: 44

Segawa Syndrome, Autosomal Recessive (ARSEGS)

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

Aliases & Classifications for Segawa Syndrome, Autosomal Recessive

MalaCards integrated aliases for Segawa Syndrome, Autosomal Recessive:

Name: Segawa Syndrome, Autosomal Recessive 57 20 43 39
Tyrosine Hydroxylase Deficiency 57 25 20 43 58 72
Dystonia, Dopa-Responsive, Autosomal Recessive 57 72 54
Tyrosine Hydroxylase-Deficient Dopa-Responsive Dystonia 20 58
Parkinsonism, Infantile, Autosomal Recessive 57 20
Autosomal Recessive Dopa-Responsive Dystonia 58 72
Autosomal Recessive Dopa Responsive Dystonia 29 6
Autosomal Recessive Infantile Parkinsonism 43 72
Segawa Syndrome, Recessive 57 13
Th-Deficient Drd 20 43
Dyt5b 20 58
Dystonia, Dopa-Responsive, with or Without Hyperphenylalaninemia, Autosomal Recessive 70
Dystonia, Dopa Responsive, Autosomal Recessive 20
Dopa-Responsive Dystonia, Autosomal Recessive 57
Dopa Responsive Dystonia, Autosomal Recessive 20
Autosomal Recessive Segawa Syndrome 58
Segawa Syndrome Autosomal Recessive 72
Th Deficiency 43
Dyt/park-Th 20
Arsegs 72
Thd 72

Characteristics:

Orphanet epidemiological data:

58
autosomal recessive dopa-responsive dystonia
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Europe); Age of onset: Infancy,Neonatal;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

Miscellaneous:
variable severity
onset in infancy or early childhood
favorable response to l-dopa
see also autosomal dominant form


HPO:

31
segawa syndrome, autosomal recessive:
Inheritance autosomal recessive inheritance
Onset and clinical course variable expressivity infantile onset


GeneReviews:

25
Penetrance Penetrance appears to be complete in individuals with biallelic th pathogenic variants....

Classifications:

Orphanet: 58  
Rare neurological diseases
Inborn errors of metabolism


Summaries for Segawa Syndrome, Autosomal Recessive

MedlinePlus Genetics : 43 Tyrosine hydroxylase (TH) deficiency is a disorder that primarily affects movement, with symptoms that may range from mild to severe.The mild form of this disorder is called TH-deficient dopa-responsive dystonia (DRD). Symptoms usually appear during childhood. Affected individuals may exhibit unusual limb positioning and a lack of coordination when walking or running. In some cases, people with TH-deficient DRD have additional movement problems such as shaking when holding a position (postural tremor) or involuntary upward-rolling movements of the eyes. The movement difficulties may slowly increase with age but almost always get better with medical treatment.The severe forms of TH deficiency are called infantile parkinsonism and progressive infantile encephalopathy. These forms of the disorder appear soon after birth and are more difficult to treat effectively.Babies with infantile parkinsonism have delayed development of motor skills such as sitting unsupported or reaching for a toy. They may have stiff muscles, especially in the arms and legs; unusual body positioning; droopy eyelids (ptosis); and involuntary upward-rolling eye movements. The autonomic nervous system, which controls involuntary body functions, may also be affected. Resulting signs and symptoms can include constipation, backflow of stomach acids into the esophagus (gastroesophageal reflux), and difficulty regulating blood sugar, body temperature, and blood pressure. People with the infantile parkinsonism form of the disorder may have intellectual disability, speech problems, attention deficit disorder, and psychiatric conditions such as depression, anxiety, or obsessive-compulsive behaviors.Progressive infantile encephalopathy is an uncommon severe form of TH deficiency. It is characterized by brain dysfunction and structural abnormalities leading to profound physical and intellectual disability.

MalaCards based summary : Segawa Syndrome, Autosomal Recessive, also known as tyrosine hydroxylase deficiency, is related to dystonia and dystonia, dopa-responsive, and has symptoms including tremor, abnormality of extrapyramidal motor function and gait ataxia. An important gene associated with Segawa Syndrome, Autosomal Recessive is TH (Tyrosine Hydroxylase), and among its related pathways/superpathways is Folate biosynthesis. Affiliated tissues include eye, brain and fetal brain, and related phenotypes are ptosis and constipation

GARD : 20 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.

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) (Updated 05-Apr-2021)

UniProtKB/Swiss-Prot : 72 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, Autosomal Recessive

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

(show top 50) (show all 51)
# Related Disease Score Top Affiliating Genes
1 dystonia 30.6 TH GCH1
2 dystonia, dopa-responsive 30.3 TH GCH1
3 movement disease 29.7 TH GCH1
4 hyperphenylalaninemia, bh4-deficient, b 29.6 TH GCH1
5 choreatic disease 29.5 TH GCH1
6 myotonia congenita, autosomal dominant 11.2
7 parkinsonism 10.5
8 hemorrhoid 10.4
9 hypotonia 10.3
10 tremor 10.3
11 encephalopathy 10.2
12 methylmalonyl-coa epimerase deficiency 10.2
13 dystonia, dopa-responsive, due to sepiapterin reductase deficiency 10.2
14 methylmalonic acidemia 10.2
15 autosomal recessive disease 10.2
16 ptosis 10.2
17 paraplegia 10.2
18 constipation 10.1
19 internal hemorrhoid 10.1
20 gastroesophageal reflux 9.9
21 torticollis 9.9
22 alacrima, achalasia, and mental retardation syndrome 9.9
23 hyperprolactinemia 9.9
24 chorea, childhood-onset, with psychomotor retardation 9.9
25 segmental dystonia 9.9
26 oculogyric crisis 9.9
27 microcephaly 9.9
28 respiratory failure 9.9
29 allergic disease 9.9
30 cerebral palsy 9.9
31 myopathy 9.9
32 gtp cyclohydrolase 1-deficient dopa-responsive dystonia 9.9
33 athetosis 9.9
34 autonomic dysfunction 9.9
35 hypertonia 9.9
36 myoclonus 9.9
37 spasticity 9.9
38 fibrosis of extraocular muscles, congenital, 1 9.9
39 portal hypertension 9.9
40 thoracic cancer 9.9
41 skin tag 9.9
42 hereditary dystonia 9.8 TH GCH1
43 hyperphenylalaninemia 9.8 TH GCH1
44 tetrahydrobiopterin deficiency 9.8 TH GCH1
45 cervical dystonia 9.8 TH GCH1
46 aromatic l-amino acid decarboxylase deficiency 9.7 TH GCH1
47 early-onset parkinson's disease 9.7 TH GCH1
48 sleep disorder 9.7 TH GCH1
49 phenylketonuria 9.7 TH GCH1
50 pheochromocytoma 9.6 TH GCH1

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



Diseases related to Segawa Syndrome, Autosomal Recessive

Symptoms & Phenotypes for Segawa Syndrome, Autosomal Recessive

Human phenotypes related to Segawa Syndrome, Autosomal Recessive:

58 31 (show all 37)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ptosis 58 31 frequent (33%) Frequent (79-30%) HP:0000508
2 constipation 58 31 frequent (33%) Frequent (79-30%) HP:0002019
3 delayed speech and language development 58 31 frequent (33%) Frequent (79-30%) HP:0000750
4 myoclonus 58 31 occasional (7.5%) Frequent (79-30%) HP:0001336
5 irritability 58 31 frequent (33%) Frequent (79-30%) HP:0000737
6 motor delay 58 31 frequent (33%) Frequent (79-30%) HP:0001270
7 talipes equinovarus 58 31 frequent (33%) Frequent (79-30%) HP:0001762
8 pes cavus 58 31 frequent (33%) Frequent (79-30%) HP:0001761
9 lethargy 58 31 frequent (33%) Frequent (79-30%) HP:0001254
10 gait ataxia 58 31 frequent (33%) Frequent (79-30%) HP:0002066
11 babinski sign 58 31 frequent (33%) Frequent (79-30%) HP:0003487
12 feeding difficulties 58 31 frequent (33%) Frequent (79-30%) HP:0011968
13 rigidity 58 31 frequent (33%) Frequent (79-30%) HP:0002063
14 excessive salivation 58 31 frequent (33%) Frequent (79-30%) HP:0003781
15 limb dystonia 58 31 frequent (33%) Frequent (79-30%) HP:0002451
16 hypokinesia 58 31 frequent (33%) Frequent (79-30%) HP:0002375
17 brisk reflexes 58 31 frequent (33%) Frequent (79-30%) HP:0001348
18 parkinsonism 58 31 frequent (33%) Frequent (79-30%) HP:0001300
19 night sweats 58 31 frequent (33%) Frequent (79-30%) HP:0030166
20 bradykinesia 58 31 frequent (33%) Frequent (79-30%) HP:0002067
21 postural tremor 58 31 frequent (33%) Frequent (79-30%) HP:0002174
22 lower limb hyperreflexia 58 31 frequent (33%) Frequent (79-30%) HP:0002395
23 oculogyric crisis 58 31 frequent (33%) Frequent (79-30%) HP:0010553
24 focal dystonia 58 31 frequent (33%) Frequent (79-30%) HP:0004373
25 decreased csf homovanillic acid 58 31 frequent (33%) Frequent (79-30%) HP:0003785
26 intellectual disability, mild 58 31 occasional (7.5%) Occasional (29-5%) HP:0001256
27 fever 58 31 occasional (7.5%) Occasional (29-5%) HP:0001945
28 generalized dystonia 58 31 occasional (7.5%) Occasional (29-5%) HP:0007325
29 generalized hypotonia 58 31 very rare (1%) Very rare (<4-1%) HP:0001290
30 progressive encephalopathy 58 31 very rare (1%) Very rare (<4-1%) HP:0002448
31 ataxia 58 Frequent (79-30%)
32 tremor 31 HP:0001337
33 mask-like facies 31 HP:0000298
34 abnormality of extrapyramidal motor function 58 Frequent (79-30%)
35 central hypotonia 58 Frequent (79-30%)
36 muscular hypotonia of the trunk 31 HP:0008936
37 parkinsonism with favorable response to dopaminergic medication 31 HP:0002548

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Eyes:
ptosis
oculogyric crises

Head And Neck Face:
masked facies

Neurologic Central Nervous System:
tremor
motor delay
dystonia
gait ataxia
rigidity
more
Laboratory Abnormalities:
decreased csf homovanillic acid (hva)
decreased csf 3-methoxy-4-hydroxyphenylethyleneglycol (mhpg)
normal csf 5-hiaa
decreased activity of tyrosine hydroxylase

Clinical features from OMIM®:

605407 (Updated 05-Apr-2021)

UMLS symptoms related to Segawa Syndrome, Autosomal Recessive:


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

Drugs & Therapeutics for Segawa Syndrome, Autosomal Recessive

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

Genetic Tests for Segawa Syndrome, Autosomal Recessive

Genetic tests related to Segawa Syndrome, Autosomal Recessive:

# Genetic test Affiliating Genes
1 Autosomal Recessive Dopa Responsive Dystonia 29 TH

Anatomical Context for Segawa Syndrome, Autosomal Recessive

MalaCards organs/tissues related to Segawa Syndrome, Autosomal Recessive:

40
Eye, Brain, Fetal Brain, Subthalamic Nucleus

Publications for Segawa Syndrome, Autosomal Recessive

Articles related to Segawa Syndrome, Autosomal Recessive:

(show top 50) (show all 112)
# Title Authors PMID Year
1
Myoclonus-dystonia syndrome due to tyrosine hydroxylase deficiency. 61 6 57 25
22815559 2012
2
Biochemical and molecular genetic characteristics of the severe form of tyrosine hydroxylase deficiency. 61 6 57 25
10585338 1999
3
A review of biochemical and molecular genetic aspects of tyrosine hydroxylase deficiency including a novel mutation (291delC). 61 6 57 25
10407773 1999
4
Biochemical hallmarks of tyrosine hydroxylase deficiency. 6 57 61 25
9732974 1998
5
Deep sequencing reveals 50 novel genes for recessive cognitive disorders. 6 25 57
21937992 2011
6
Mutations in the cyclic adenosine monophosphate response element of the tyrosine hydroxylase gene. 6 25 57
17696123 2007
7
Four novel mutations in the tyrosine hydroxylase gene in patients with infantile parkinsonism. 25 6 57
11246459 2000
8
Recessively inherited L-DOPA-responsive parkinsonism in infancy caused by a point mutation (L205P) in the tyrosine hydroxylase gene. 6 57 25
8817341 1996
9
Recessively inherited L-DOPA-responsive dystonia caused by a point mutation (Q381K) in the tyrosine hydroxylase gene. 25 6 57
8528210 1995
10
A point mutation in the tyrosine hydroxylase gene associated with Segawa's syndrome. 57 6 25
7814018 1995
11
Tyrosine hydroxylase deficiency in Taiwanese infants. 61 6 25
22264700 2012
12
Expanding phenotype and clinical analysis of tyrosine hydroxylase deficiency. 6 25 61
20823027 2011
13
Tyrosine hydroxylase deficiency: a treatable disorder of brain catecholamine biosynthesis. 25 6 61
20430833 2010
14
Tyrosine hydroxylase deficiency in three Greek patients with a common ancestral mutation. 61 25 6
20198643 2010
15
Long-term course of L-dopa-responsive dystonia caused by tyrosine hydroxylase deficiency. 6 25 61
15505183 2004
16
L-dopa and selegiline for tyrosine hydroxylase deficiency. 61 25 57
11241071 2001
17
Tyrosine hydroxylase deficiency unresponsive to L-dopa treatment with unusual clinical and biochemical presentation. 57 61 25
11196107 2000
18
Tyrosine hydroxylase deficiency with severe clinical course: clinical and biochemical investigations and optimization of therapy. 61 57 25
10753262 2000
19
Dopa-responsive dystonia in Chinese patients: Including a novel heterozygous mutation in the GCH1 gene with an intermediate phenotype and one case of prenatal diagnosis. 6 25
28087438 2017
20
A novel compound heterozygous tyrosine hydroxylase mutation (p.R441P) with complex phenotype. 6 25
23939262 2011
21
A homozygous tyrosine hydroxylase gene promoter mutation in a patient with dopa-responsive encephalopathy: clinical, biochemical and genetic analysis. 6 25
17698383 2007
22
Levodopa-responsive infantile parkinsonism due to a novel mutation in the tyrosine hydroxylase gene and exacerbation by viral infections. 6 25
15747353 2005
23
Dopa-responsive dystonia simulating spastic paraplegia due to tyrosine hydroxylase (TH) gene mutations. 6 25
11160968 2001
24
A branch site mutation leading to aberrant splicing of the human tyrosine hydroxylase gene in a child with a severe extrapyramidal movement disorder. 25 6
11281275 2000
25
Dystonia with motor delay in compound heterozygotes for GTP-cyclohydrolase I gene mutations. 25 6
9667588 1998
26
A common point mutation in the tyrosine hydroxylase gene in autosomal recessive L-DOPA-responsive dystonia in the Dutch population. 25 6
9703425 1998
27
[Tyrosine hydroxylase deficiency: a case of autosomal recessive dopa-responsive dystonia]. 6 61
25224241 2014
28
Functional studies of tyrosine hydroxylase missense variants reveal distinct patterns of molecular defects in Dopa-responsive dystonia. 61 6
24753243 2014
29
Biochemical and molecular characterization of tyrosine hydroxylase deficiency in Hong Kong Chinese. 61 6
20056467 2010
30
Neuromotor and cognitive outcomes of early treatment in tyrosine hydroxylase deficiency type B. 61 25
28039315 2017
31
Generation of an iPSC line from a patient with tyrosine hydroxylase (TH) deficiency: TH-1 iPSC. 6
27934587 2016
32
Study of a fetal brain affected by a severe form of tyrosine hydroxylase deficiency, a rare cause of early parkinsonism. 61 25
26686676 2016
33
Human gene-centered transcription factor networks for enhancers and disease variants. 6
25910213 2015
34
Prevalence of inherited neurotransmitter disorders in patients with movement disorders and epilepsy: a retrospective cohort study. 6
25758715 2015
35
Cerebrospinal fluid synaptic proteins as useful biomarkers in tyrosine hydroxylase deficiency. 25 61
25468651 2015
36
Levodopa-induced dyskinesias in tyrosine hydroxylase deficiency. 61 25
23389938 2013
37
Homovanillic acid in cerebrospinal fluid of 1388 children with neurological disorders. 6
23480488 2013
38
A new tyrosine hydroxylase genotype associated with early-onset severe encephalopathy. 25 61
21940685 2012
39
Novel mutations in the tyrosine hydroxylase gene in the first Czech patient with tyrosine hydroxylase deficiency. 25 61
22691284 2012
40
Tyrosine hydroxylase deficiency with severe clinical course. 61 25
19282209 2009
41
Tyrosine hydroxylase deficiency presenting with a biphasic clinical course. 25 61
18058633 2007
42
Pre- and postnatal diagnosis of tyrosine hydroxylase deficiency. 61 25
16049992 2005
43
Dopa-responsive dystonia due to mild tyrosine hydroxylase deficiency. 61 25
14705130 2004
44
GTP-cyclohydrolase I gene mutations in patients with autosomal dominant and recessive GTP-CH1 deficiency: identification and functional characterization of four novel mutations. 6
15303002 2004
45
Neonatal dopa-responsive extrapyramidal syndrome in twins with recessive GTPCH deficiency. 6
12552057 2003
46
Tyrosine hydroxylase deficiency causes progressive encephalopathy and dopa-nonresponsive dystonia. 25 61
12891655 2003
47
Autosomal dominant GTP-CH deficiency presenting as a dopa-responsive myoclonus-dystonia syndrome. 6
12391354 2002
48
Tyrosine hydroxylase deficiency: clinical manifestations of catecholamine insufficiency in infancy. 61 25
11921123 2002
49
L-dopa-responsive infantile hypokinetic rigid parkinsonism due to tyrosine hydroxylase deficiency. 25 61
11134401 2000
50
Dopa-responsive dystonia induced by a recessive GTP cyclohydrolase I mutation. 6
10987649 1999

Variations for Segawa Syndrome, Autosomal Recessive

ClinVar genetic disease variations for Segawa Syndrome, Autosomal Recessive:

6 (show top 50) (show all 244)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 GCH1 GCH1, 1-BP DEL, 351A Deletion Pathogenic 9280 GRCh37:
GRCh38:
2 GCH1 NM_000161.3(GCH1):c.747G>C (p.Arg249Ser) SNV Pathogenic 9286 rs104894442 GRCh37: 14:55310741-55310741
GRCh38: 14:54844023-54844023
3 GCH1 NM_000161.3(GCH1):c.595C>G (p.Pro199Ala) SNV Pathogenic 9292 rs137852633 GRCh37: 14:55312517-55312517
GRCh38: 14:54845799-54845799
4 TH NM_000360.4(TH):c.1141C>A (p.Gln381Lys) SNV Pathogenic 12324 rs121917762 GRCh37: 11:2186957-2186957
GRCh38: 11:2165727-2165727
5 TH NM_000360.4(TH):c.1388C>T (p.Thr463Met) SNV Pathogenic 12326 rs45471299 GRCh37: 11:2185569-2185569
GRCh38: 11:2164339-2164339
6 TH NM_000360.4(TH):c.1105-24T>A SNV Pathogenic 12331 rs587776767 GRCh37: 11:2187017-2187017
GRCh38: 11:2165787-2165787
7 TH TH, 1-BP DEL, 291C Deletion Pathogenic 12332 GRCh37:
GRCh38:
8 TH TH, -70G-A SNV Pathogenic 12333 GRCh37:
GRCh38:
9 TH NM_000360.4(TH):c.983G>T (p.Cys328Phe) SNV Pathogenic 12334 rs121917765 GRCh37: 11:2187774-2187774
GRCh38: 11:2166544-2166544
10 TH NM_000360.4(TH):c.283del (p.Ala95fs) Deletion Pathogenic 208620 rs797045111 GRCh37: 11:2190909-2190909
GRCh38: 11:2169679-2169679
11 TH NM_000360.4(TH):c.601C>T (p.Gln201Ter) SNV Pathogenic 371630 rs1057517423 GRCh37: 11:2189139-2189139
GRCh38: 11:2167909-2167909
12 TH NM_000360.4(TH):c.733A>C (p.Thr245Pro) SNV Pathogenic 12329 rs28934581 GRCh37: 11:2188225-2188225
GRCh38: 11:2166995-2166995
13 GCH1 NM_000161.3(GCH1):c.662T>C (p.Met221Thr) SNV Pathogenic 9281 rs104894434 GRCh37: 14:55310826-55310826
GRCh38: 14:54844108-54844108
14 GCH1 NM_000161.3(GCH1):c.323G>A (p.Gly108Asp) SNV Pathogenic 9282 rs104894435 GRCh37: 14:55369059-55369059
GRCh38: 14:54902341-54902341
15 GCH1 NM_000161.3(GCH1):c.671A>G (p.Lys224Arg) SNV Pathogenic 9283 rs41298442 GRCh37: 14:55310817-55310817
GRCh38: 14:54844099-54844099
16 TH NM_000360.4(TH):c.605G>A (p.Arg202His) SNV Pathogenic 12327 rs80338892 GRCh37: 11:2189135-2189135
GRCh38: 11:2167905-2167905
17 TH NM_000360.4(TH):c.364C>T (p.Arg122Ter) SNV Pathogenic 449110 rs771610752 GRCh37: 11:2189844-2189844
GRCh38: 11:2168614-2168614
18 TH NM_000360.4(TH):c.614T>C (p.Leu205Pro) SNV Pathogenic/Likely pathogenic 12325 rs121917763 GRCh37: 11:2189126-2189126
GRCh38: 11:2167896-2167896
19 TH NM_000360.3(TH):c.-71C>T SNV Pathogenic/Likely pathogenic 558656 rs549435434 GRCh37: 11:2193087-2193087
GRCh38: 11:2171857-2171857
20 TH NM_000360.4(TH):c.407T>A (p.Val136Glu) SNV Likely pathogenic 807515 rs1590169802 GRCh37: 11:2189801-2189801
GRCh38: 11:2168571-2168571
21 TH NM_000360.4(TH):c.696-2A>G SNV Likely pathogenic 556999 rs1554923121 GRCh37: 11:2188264-2188264
GRCh38: 11:2167034-2167034
22 TH NM_000360.4(TH):c.644+1G>A SNV Likely pathogenic 557031 rs1266265578 GRCh37: 11:2189095-2189095
GRCh38: 11:2167865-2167865
23 TH NM_000360.4(TH):c.1176_1180del (p.Ser394fs) Deletion Likely pathogenic 557508 rs1554922593 GRCh37: 11:2186918-2186922
GRCh38: 11:2165688-2165692
24 TH NM_000360.4(TH):c.203del (p.Leu68fs) Deletion Likely pathogenic 557613 rs1554923852 GRCh37: 11:2190989-2190989
GRCh38: 11:2169759-2169759
25 TH NM_000360.4(TH):c.487+1G>C SNV Likely pathogenic 553128 rs1554923513 GRCh37: 11:2189720-2189720
GRCh38: 11:2168490-2168490
26 TH NM_000360.4(TH):c.644+2T>A SNV Likely pathogenic 553968 rs1554923317 GRCh37: 11:2189094-2189094
GRCh38: 11:2167864-2167864
27 TH NM_000360.4(TH):c.12_43del (p.Asp5fs) Deletion Likely pathogenic 554338 rs1554924357 GRCh37: 11:2192974-2193005
GRCh38: 11:2171744-2171775
28 TH NM_000360.4(TH):c.278_296dup (p.Val100fs) Duplication Likely pathogenic 550959 rs1554923810 GRCh37: 11:2190895-2190896
GRCh38: 11:2169665-2169666
29 TH NM_000360.4(TH):c.1282del (p.Gln428fs) Deletion Likely pathogenic 551088 rs1554922434 GRCh37: 11:2186514-2186514
GRCh38: 11:2165284-2165284
30 TH NM_000360.4(TH):c.1266C>A (p.Tyr422Ter) SNV Likely pathogenic 551607 rs1554922441 GRCh37: 11:2186530-2186530
GRCh38: 11:2165300-2165300
31 TH NM_000360.4(TH):c.845dup (p.Thr283fs) Duplication Likely pathogenic 551618 rs1554923004 GRCh37: 11:2187994-2187995
GRCh38: 11:2166764-2166765
32 TH NM_000360.4(TH):c.644_644+15del Deletion Likely pathogenic 551833 rs1554923305 GRCh37: 11:2189081-2189096
GRCh38: 11:2167851-2167866
33 TH NM_000360.4(TH):c.487+1G>A SNV Likely pathogenic 552562 rs1554923513 GRCh37: 11:2189720-2189720
GRCh38: 11:2168490-2168490
34 TH NM_000360.4(TH):c.312+1G>A SNV Likely pathogenic 555288 rs1554923802 GRCh37: 11:2190879-2190879
GRCh38: 11:2169649-2169649
35 TH NM_000360.4(TH):c.2T>C (p.Met1Thr) SNV Likely pathogenic 556248 rs201932766 GRCh37: 11:2193015-2193015
GRCh38: 11:2171785-2171785
36 TH NM_000360.4(TH):c.850G>A (p.Gly284Ser) SNV Likely pathogenic 558576 rs1288483479 GRCh37: 11:2187990-2187990
GRCh38: 11:2166760-2166760
37 TH NM_000360.4(TH):c.714_715del (p.Leu239fs) Deletion Likely pathogenic 590824 rs1564918287 GRCh37: 11:2188243-2188244
GRCh38: 11:2167013-2167014
38 TH NM_000360.4(TH):c.815T>G (p.Leu272Arg) SNV Likely pathogenic 802648 rs775410637 GRCh37: 11:2188143-2188143
GRCh38: 11:2166913-2166913
39 TH NM_000360.4(TH):c.293_295dup (p.Ala99_Val100insGly) Duplication Likely pathogenic 802649 rs1590170978 GRCh37: 11:2190896-2190897
GRCh38: 11:2169666-2169667
40 TH NM_000360.4(TH):c.1035_1045del (p.Gln346fs) Deletion Likely pathogenic 639906 rs1590166832 GRCh37: 11:2187712-2187722
GRCh38: 11:2166482-2166492
41 TH NM_000360.4(TH):c.921del (p.Phe308fs) Deletion Likely pathogenic 370441 rs1057516491 GRCh37: 11:2187919-2187919
GRCh38: 11:2166689-2166689
42 TH NM_000360.4(TH):c.91-9_107del Deletion Likely pathogenic 370929 rs1057516874 GRCh37: 11:2191085-2191110
GRCh38: 11:2169855-2169880
43 TH NM_000360.4(TH):c.717del (p.Lys240fs) Deletion Likely pathogenic 370714 rs1057516712 GRCh37: 11:2188241-2188241
GRCh38: 11:2167011-2167011
44 TH NM_000360.4(TH):c.487+2T>C SNV Likely pathogenic 371096 rs1057517003 GRCh37: 11:2189719-2189719
GRCh38: 11:2168489-2168489
45 TH NM_000360.4(TH):c.12dup (p.Asp5fs) Duplication Likely pathogenic 370720 rs1057516716 GRCh37: 11:2193004-2193005
GRCh38: 11:2171774-2171775
46 TH NM_000360.4(TH):c.1104+1G>A SNV Likely pathogenic 370858 rs1057516819 GRCh37: 11:2187231-2187231
GRCh38: 11:2166001-2166001
47 TH NM_000360.4(TH):c.977+1G>A SNV Likely pathogenic 370745 rs1057516736 GRCh37: 11:2187862-2187862
GRCh38: 11:2166632-2166632
48 TH NM_000360.4(TH):c.997del (p.Leu333fs) Deletion Likely pathogenic 371299 rs1057517162 GRCh37: 11:2187760-2187760
GRCh38: 11:2166530-2166530
49 TH NM_000360.4(TH):c.1282C>T (p.Gln428Ter) SNV Likely pathogenic 188890 rs786204540 GRCh37: 11:2186514-2186514
GRCh38: 11:2165284-2165284
50 TH NM_000360.4(TH):c.292C>T (p.Arg98Ter) SNV Likely pathogenic 374732 rs1057519220 GRCh37: 11:2190900-2190900
GRCh38: 11:2169670-2169670

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

72 (show all 38)
# 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 rs127361033
10 TH p.Arg296Gln VAR_071717 rs199961079
11 TH p.Gly315Ser VAR_071718 rs128848347
12 TH p.Ile382Thr VAR_071719 rs155492272
13 TH p.Gly428Arg VAR_071720 rs126488460
14 TH p.Cys207Tyr VAR_072863
15 TH p.Asp227Gly VAR_072864
16 TH p.Ala241Thr VAR_072865 rs126045541
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 rs142858969
25 TH p.Cys359Phe VAR_072874 rs121917765
26 TH p.Phe375Leu VAR_072875 rs763198914
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 rs105752038
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

Expression for Segawa Syndrome, Autosomal Recessive

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

Pathways for Segawa Syndrome, Autosomal Recessive

Pathways related to Segawa Syndrome, Autosomal Recessive according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
10.09 TH GCH1

GO Terms for Segawa Syndrome, Autosomal Recessive

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

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

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

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

Sources for Segawa Syndrome, Autosomal Recessive

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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