ARSEGS
MCID: SGW002
MIFTS: 51

Segawa Syndrome, Autosomal Recessive (ARSEGS)

Categories: Gastrointestinal diseases, Genetic diseases, Metabolic 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 56 52 25 29 6 39
Tyrosine Hydroxylase Deficiency 56 24 52 25 58 73
Dystonia, Dopa-Responsive, Autosomal Recessive 56 73 54
Tyrosine Hydroxylase-Deficient Dopa-Responsive Dystonia 52 58
Parkinsonism, Infantile, Autosomal Recessive 56 52
Autosomal Recessive Dopa-Responsive Dystonia 58 73
Autosomal Recessive Infantile Parkinsonism 25 73
Segawa Syndrome, Recessive 56 13
Th-Deficient Drd 52 25
Dyt5b 52 58
Dystonia, Dopa-Responsive, with or Without Hyperphenylalaninemia, Autosomal Recessive 71
Dystonia, Dopa Responsive, Autosomal Recessive 52
Dopa-Responsive Dystonia, Autosomal Recessive 56
Dopa Responsive Dystonia, Autosomal Recessive 52
Autosomal Recessive Segawa Syndrome 58
Segawa Syndrome Autosomal Recessive 73
Th Deficiency 25
Dyt/park-Th 52
Arsegs 73
Thd 73

Characteristics:

Orphanet epidemiological data:

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

OMIM:

56
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:

24
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

Genetics Home Reference : 25 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 constipation, 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 are Type II diabetes mellitus and ATF-2 transcription factor network. The drugs Guaifenesin and Chlorpheniramine, phenylpropanolamine drug combination have been mentioned in the context of this disorder. Affiliated tissues include brain, eye and thyroid, and related phenotypes are delayed speech and language development and irritability

NIH Rare Diseases : 52 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 : 56 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)

UniProtKB/Swiss-Prot : 73 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 62)
# Related Disease Score Top Affiliating Genes
1 dystonia 30.0 TH INS GCH1
2 constipation 29.9 TH INS
3 movement disease 29.9 TH GCH1
4 hyperphenylalaninemia, bh4-deficient, b 29.8 TH GCH1
5 myotonia congenita, autosomal dominant 11.5
6 hemorrhoid 10.6
7 internal hemorrhoid 10.3
8 hypotonia 10.3
9 tremor 10.2
10 methylmalonyl-coa epimerase deficiency 10.2
11 dystonia, dopa-responsive, due to sepiapterin reductase deficiency 10.2
12 methylmalonic acidemia 10.2
13 alzheimer disease 10.2
14 portal hypertension 10.2
15 thoracic cancer 10.2
16 chronic pain 10.2
17 autosomal recessive disease 10.1
18 ptosis 10.1
19 paraplegia 10.1
20 encephalopathy 10.1
21 hyperphenylalaninemia 10.0 TH GCH1
22 hereditary dystonia 10.0 TH GCH1
23 tetrahydrobiopterin deficiency 9.9 TH GCH1
24 dystonia, dopa-responsive 9.9 TH GCH1
25 cervical dystonia 9.9 TH GCH1
26 gastroesophageal reflux 9.9
27 torticollis 9.9
28 alacrima, achalasia, and mental retardation syndrome 9.9
29 hyperprolactinemia 9.9
30 chorea, childhood-onset, with psychomotor retardation 9.9
31 segmental dystonia 9.9
32 oculogyric crisis 9.9
33 microcephaly 9.9
34 respiratory failure 9.9
35 allergic hypersensitivity disease 9.9
36 choreatic disease 9.9
37 myopathy 9.9
38 gtp cyclohydrolase 1-deficient dopa-responsive dystonia 9.9
39 athetosis 9.9
40 autonomic dysfunction 9.9
41 hypertonia 9.9
42 myoclonus 9.9
43 spasticity 9.9
44 early-onset parkinson's disease 9.8 TH GCH1
45 wolfram syndrome 1 9.8 TH INS
46 wolfram syndrome 9.8 TH INS
47 stiff-person syndrome 9.8 TH INS
48 autoimmune polyendocrine syndrome 9.8 TH INS
49 endogenous depression 9.7 TH INS
50 phenylketonuria 9.7 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 delayed speech and language development 58 31 frequent (33%) Frequent (79-30%) HP:0000750
2 irritability 58 31 frequent (33%) Frequent (79-30%) HP:0000737
3 feeding difficulties 58 31 frequent (33%) Frequent (79-30%) HP:0011968
4 myoclonus 58 31 occasional (7.5%) Frequent (79-30%) HP:0001336
5 ptosis 58 31 frequent (33%) Frequent (79-30%) HP:0000508
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 constipation 58 31 frequent (33%) Frequent (79-30%) HP:0002019
9 pes cavus 58 31 frequent (33%) Frequent (79-30%) HP:0001761
10 lethargy 58 31 frequent (33%) Frequent (79-30%) HP:0001254
11 gait ataxia 58 31 frequent (33%) Frequent (79-30%) HP:0002066
12 babinski sign 58 31 frequent (33%) Frequent (79-30%) HP:0003487
13 rigidity 58 31 frequent (33%) Frequent (79-30%) HP:0002063
14 excessive salivation 58 31 frequent (33%) Frequent (79-30%) HP:0003781
15 central hypotonia 58 31 frequent (33%) Frequent (79-30%) HP:0011398
16 limb dystonia 58 31 frequent (33%) Frequent (79-30%) HP:0002451
17 hypokinesia 58 31 frequent (33%) Frequent (79-30%) HP:0002375
18 brisk reflexes 58 31 frequent (33%) Frequent (79-30%) HP:0001348
19 parkinsonism 58 31 frequent (33%) Frequent (79-30%) HP:0001300
20 night sweats 58 31 frequent (33%) Frequent (79-30%) HP:0030166
21 bradykinesia 58 31 frequent (33%) Frequent (79-30%) HP:0002067
22 postural tremor 58 31 frequent (33%) Frequent (79-30%) HP:0002174
23 lower limb hyperreflexia 58 31 frequent (33%) Frequent (79-30%) HP:0002395
24 oculogyric crisis 58 31 frequent (33%) Frequent (79-30%) HP:0010553
25 focal dystonia 58 31 frequent (33%) Frequent (79-30%) HP:0004373
26 decreased csf homovanillic acid 58 31 frequent (33%) Frequent (79-30%) HP:0003785
27 intellectual disability, mild 58 31 occasional (7.5%) Occasional (29-5%) HP:0001256
28 fever 58 31 occasional (7.5%) Occasional (29-5%) HP:0001945
29 generalized dystonia 58 31 occasional (7.5%) Occasional (29-5%) HP:0007325
30 generalized hypotonia 58 31 very rare (1%) Very rare (<4-1%) HP:0001290
31 progressive encephalopathy 58 31 very rare (1%) Very rare (<4-1%) HP:0002448
32 ataxia 58 Frequent (79-30%)
33 tremor 31 HP:0001337
34 mask-like facies 31 HP:0000298
35 abnormality of extrapyramidal motor function 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:

56
Neurologic Central Nervous System:
tremor
motor delay
dystonia
gait ataxia
rigidity
more
Head And Neck Face:
masked facies

Head And Neck Eyes:
ptosis
oculogyric crises

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

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

Drugs for Segawa Syndrome, Autosomal Recessive (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 16)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Guaifenesin Approved, Investigational, Vet_approved Phase 2 93-14-1 3516
2 Chlorpheniramine, phenylpropanolamine drug combination Phase 2
3 Hormones Phase 2
4
Levodopa Approved Early Phase 1 59-92-7 6047
5
Dopamine Approved Early Phase 1 51-61-6, 62-31-7 681
6
Carbidopa Approved Early Phase 1 28860-95-9 34359
7
Amantadine Approved Early Phase 1 768-94-5 2130
8
Glutamic acid Approved, Nutraceutical Early Phase 1 56-86-0 33032
9 Anti-Infective Agents Early Phase 1
10 Analgesics, Non-Narcotic Early Phase 1
11 Antiviral Agents Early Phase 1
12 Antiparkinson Agents Early Phase 1
13 Analgesics Early Phase 1
14 Dihydroxyphenylalanine Early Phase 1
15 Neurotransmitter Agents Early Phase 1
16 Dopamine Agents Early Phase 1

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Thyroid Hormone Analog Therapy of Patients With Severe Psychomotor Retardation Caused by Mutations in the MCT8 Thyroid Hormone Transporter: The Triac Trial. Completed NCT02060474 Phase 2 Triac
2 Evaluation of Pharmacologically-induced Changes in Excitatory Glutamatergic Neurotransmission of Severe TBI Patients Not yet recruiting NCT04244058 Early Phase 1 Amantadine + L-DOPA;NMDA blocker

Search 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 Segawa Syndrome, Autosomal Recessive 29 TH

Anatomical Context for Segawa Syndrome, Autosomal Recessive

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

40
Brain, Eye, Thyroid, Fetal Brain, Subthalamic Nucleus

Publications for Segawa Syndrome, Autosomal Recessive

Articles related to Segawa Syndrome, Autosomal Recessive:

(show top 50) (show all 103)
# Title Authors PMID Year
1
Biochemical and molecular genetic characteristics of the severe form of tyrosine hydroxylase deficiency. 24 56 6 61
10585338 1999
2
A review of biochemical and molecular genetic aspects of tyrosine hydroxylase deficiency including a novel mutation (291delC). 56 24 61 6
10407773 1999
3
Biochemical hallmarks of tyrosine hydroxylase deficiency. 6 61 56 24
9732974 1998
4
Mutations in the cyclic adenosine monophosphate response element of the tyrosine hydroxylase gene. 6 56 24
17696123 2007
5
Four novel mutations in the tyrosine hydroxylase gene in patients with infantile parkinsonism. 24 56 6
11246459 2000
6
Recessively inherited L-DOPA-responsive parkinsonism in infancy caused by a point mutation (L205P) in the tyrosine hydroxylase gene. 56 6 24
8817341 1996
7
Recessively inherited L-DOPA-responsive dystonia caused by a point mutation (Q381K) in the tyrosine hydroxylase gene. 24 56 6
8528210 1995
8
A point mutation in the tyrosine hydroxylase gene associated with Segawa's syndrome. 56 24 6
7814018 1995
9
Myoclonus-dystonia syndrome due to tyrosine hydroxylase deficiency. 61 24 56
22815559 2012
10
L-dopa and selegiline for tyrosine hydroxylase deficiency. 24 56 61
11241071 2001
11
Tyrosine hydroxylase deficiency unresponsive to L-dopa treatment with unusual clinical and biochemical presentation. 56 61 24
11196107 2000
12
Tyrosine hydroxylase deficiency with severe clinical course: clinical and biochemical investigations and optimization of therapy. 56 61 24
10753262 2000
13
Deep sequencing reveals 50 novel genes for recessive cognitive disorders. 24 56
21937992 2011
14
A branch site mutation leading to aberrant splicing of the human tyrosine hydroxylase gene in a child with a severe extrapyramidal movement disorder. 24 6
11281275 2000
15
Dystonia with motor delay in compound heterozygotes for GTP-cyclohydrolase I gene mutations. 6 24
9667588 1998
16
A common point mutation in the tyrosine hydroxylase gene in autosomal recessive L-DOPA-responsive dystonia in the Dutch population. 6 24
9703425 1998
17
Tyrosine Hydroxylase Deficiency 6 61
20301610 2008
18
Neuromotor and cognitive outcomes of early treatment in tyrosine hydroxylase deficiency type B. 24 61
28039315 2017
19
Study of a fetal brain affected by a severe form of tyrosine hydroxylase deficiency, a rare cause of early parkinsonism. 61 24
26686676 2016
20
Cerebrospinal fluid synaptic proteins as useful biomarkers in tyrosine hydroxylase deficiency. 24 61
25468651 2015
21
Levodopa-induced dyskinesias in tyrosine hydroxylase deficiency. 61 24
23389938 2013
22
A new tyrosine hydroxylase genotype associated with early-onset severe encephalopathy. 24 61
21940685 2012
23
Tyrosine hydroxylase deficiency in Taiwanese infants. 24 61
22264700 2012
24
Novel mutations in the tyrosine hydroxylase gene in the first Czech patient with tyrosine hydroxylase deficiency. 24 61
22691284 2012
25
Expanding phenotype and clinical analysis of tyrosine hydroxylase deficiency. 24 61
20823027 2011
26
Tyrosine hydroxylase deficiency in three Greek patients with a common ancestral mutation. 61 24
20198643 2010
27
Tyrosine hydroxylase deficiency: a treatable disorder of brain catecholamine biosynthesis. 24 61
20430833 2010
28
Tyrosine hydroxylase deficiency with severe clinical course. 24 61
19282209 2009
29
Tyrosine hydroxylase deficiency presenting with a biphasic clinical course. 24 61
18058633 2007
30
Pre- and postnatal diagnosis of tyrosine hydroxylase deficiency. 24 61
16049992 2005
31
Long-term course of L-dopa-responsive dystonia caused by tyrosine hydroxylase deficiency. 61 24
15505183 2004
32
Dopa-responsive dystonia due to mild tyrosine hydroxylase deficiency. 24 61
14705130 2004
33
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
34
Neonatal dopa-responsive extrapyramidal syndrome in twins with recessive GTPCH deficiency. 6
12552057 2003
35
Tyrosine hydroxylase deficiency causes progressive encephalopathy and dopa-nonresponsive dystonia. 24 61
12891655 2003
36
Autosomal dominant GTP-CH deficiency presenting as a dopa-responsive myoclonus-dystonia syndrome. 6
12391354 2002
37
Tyrosine hydroxylase deficiency: clinical manifestations of catecholamine insufficiency in infancy. 61 24
11921123 2002
38
L-dopa-responsive infantile hypokinetic rigid parkinsonism due to tyrosine hydroxylase deficiency. 61 24
11134401 2000
39
Dopa-responsive dystonia induced by a recessive GTP cyclohydrolase I mutation. 6
10987649 1999
40
Structure/function relationship of the cAMP response element in tyrosine hydroxylase gene transcription. 6
9235905 1997
41
A novel tyrosine hydroxylase variant in a group of Chinese patients with dopa-responsive dystonia. 24
27619486 2017
42
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. 24
28087438 2017
43
A marked contrast between serotonergic and dopaminergic changes in dopa-responsive dystonia. 24
27488599 2016
44
What Is Not in the Name? Dopa-Responsive Dystonia May Respond to More Than L-Dopa. 24
27080360 2016
45
Parkinsonism in GTP cyclohydrolase 1-deficient DOPA-responsive dystonia. 24
25416181 2015
46
Genetic diagnosis of two dopa-responsive dystonia families by exome sequencing. 24
25181484 2014
47
Sepiapterin reductase deficiency: a treatable mimic of cerebral palsy. 24
22522443 2012
48
Fixing the broken system of genetic locus symbols: Parkinson disease and dystonia as examples. 24
22454269 2012
49
Child neurology: paroxysmal stiffening, upward gaze, and hypotonia: hallmarks of sepiapterin reductase deficiency. 24
22291068 2012
50
Genotype-phenotype correlations in sepiapterin reductase deficiency. A splicing defect accounts for a new phenotypic variant. 24
21431957 2011

Variations for Segawa Syndrome, Autosomal Recessive

ClinVar genetic disease variations for Segawa Syndrome, Autosomal Recessive:

6 (show top 50) (show all 157) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TH NM_000360.4(TH):c.364C>T (p.Arg122Ter)SNV Pathogenic 449110 rs771610752 11:2189844-2189844 11:2168614-2168614
2 GCH1 GCH1, 1-BP DEL, 351Adeletion Pathogenic 9280
3 GCH1 NM_000161.3(GCH1):c.662T>C (p.Met221Thr)SNV Pathogenic 9281 rs104894434 14:55310826-55310826 14:54844108-54844108
4 GCH1 NM_000161.3(GCH1):c.323G>A (p.Gly108Asp)SNV Pathogenic 9282 rs104894435 14:55369059-55369059 14:54902341-54902341
5 GCH1 NM_000161.3(GCH1):c.595C>G (p.Pro199Ala)SNV Pathogenic 9292 rs137852633 14:55312517-55312517 14:54845799-54845799
6 TH NM_000360.4(TH):c.605G>A (p.Arg202His)SNV Pathogenic 12327 rs80338892 11:2189135-2189135 11:2167905-2167905
7 TH NM_000360.4(TH):c.733A>C (p.Thr245Pro)SNV Pathogenic 12329 rs28934581 11:2188225-2188225 11:2166995-2166995
8 TH NM_000360.4(TH):c.1105-24T>ASNV Pathogenic 12331 rs587776767 11:2187017-2187017 11:2165787-2165787
9 TH TH, 1-BP DEL, 291Cdeletion Pathogenic 12332
10 TH TH, -70G-ASNV Pathogenic 12333
11 TH NM_000360.4(TH):c.983G>T (p.Cys328Phe)SNV Pathogenic 12334 rs121917765 11:2187774-2187774 11:2166544-2166544
12 TH NM_000360.4(TH):c.283del (p.Ala95fs)deletion Pathogenic 208620 rs797045111 11:2190909-2190909 11:2169679-2169679
13 TH NM_000360.4(TH):c.601C>T (p.Gln201Ter)SNV Pathogenic 371630 rs1057517423 11:2189139-2189139 11:2167909-2167909
14 TH NM_000360.4(TH):c.614T>C (p.Leu205Pro)SNV Pathogenic/Likely pathogenic 12325 rs121917763 11:2189126-2189126 11:2167896-2167896
15 TH NM_000360.4(TH):c.1035_1045del (p.Gln346fs)deletion Pathogenic/Likely pathogenic 639906 11:2187712-2187722 11:2166482-2166492
16 TH NM_000360.4(TH):c.2T>C (p.Met1Thr)SNV Likely pathogenic 556248 rs201932766 11:2193015-2193015 11:2171785-2171785
17 TH NM_000360.4(TH):c.12_43del (p.Asp5fs)deletion Likely pathogenic 554338 rs1554924357 11:2192974-2193005 11:2171744-2171775
18 TH NM_000360.3(TH):c.-71C>TSNV Likely pathogenic 558656 rs549435434 11:2193087-2193087 11:2171857-2171857
19 TH NM_000360.4(TH):c.1282del (p.Gln428fs)deletion Likely pathogenic 551088 rs1554922434 11:2186514-2186514 11:2165284-2165284
20 TH NM_000360.4(TH):c.644_644+15deldeletion Likely pathogenic 551833 rs1554923305 11:2189081-2189096 11:2167851-2167866
21 TH NM_000360.4(TH):c.644+2T>ASNV Likely pathogenic 553968 rs1554923317 11:2189094-2189094 11:2167864-2167864
22 TH NM_000360.4(TH):c.312+1G>ASNV Likely pathogenic 555288 rs1554923802 11:2190879-2190879 11:2169649-2169649
23 TH NM_000360.4(TH):c.815T>G (p.Leu272Arg)SNV Likely pathogenic 802648 11:2188143-2188143 11:2166913-2166913
24 TH NM_000360.4(TH):c.293_295dup (p.Ala99_Val100insGly)duplication Likely pathogenic 802649 11:2190896-2190897 11:2169666-2169667
25 TH NM_000360.4(TH):c.407T>A (p.Val136Glu)SNV Likely pathogenic 807515 11:2189801-2189801 11:2168571-2168571
26 TH NM_000360.4(TH):c.644+1G>ASNV Likely pathogenic 557031 rs1266265578 11:2189095-2189095 11:2167865-2167865
27 TH NM_000360.4(TH):c.1176_1180del (p.Ser394fs)deletion Likely pathogenic 557508 rs1554922593 11:2186918-2186922 11:2165688-2165692
28 TH NM_000360.4(TH):c.1266C>A (p.Tyr422Ter)SNV Likely pathogenic 551607 rs1554922441 11:2186530-2186530 11:2165300-2165300
29 TH NM_000360.4(TH):c.203del (p.Leu68fs)deletion Likely pathogenic 557613 rs1554923852 11:2190989-2190989 11:2169759-2169759
30 TH NM_000360.4(TH):c.850G>A (p.Gly284Ser)SNV Likely pathogenic 558576 rs1288483479 11:2187990-2187990 11:2166760-2166760
31 TH NM_000360.4(TH):c.845dup (p.Thr283fs)duplication Likely pathogenic 551618 rs1554923004 11:2187994-2187995 11:2166764-2166765
32 TH NM_000360.4(TH):c.696-2A>GSNV Likely pathogenic 556999 rs1554923121 11:2188264-2188264 11:2167034-2167034
33 TH NM_000360.4(TH):c.487+1G>CSNV Likely pathogenic 553128 rs1554923513 11:2189720-2189720 11:2168490-2168490
34 TH NM_000360.4(TH):c.487+1G>ASNV Likely pathogenic 552562 rs1554923513 11:2189720-2189720 11:2168490-2168490
35 TH NM_000360.4(TH):c.278_296dup (p.Val100fs)duplication Likely pathogenic 550959 rs1554923810 11:2190895-2190896 11:2169665-2169666
36 TH NM_000360.4(TH):c.1141C>A (p.Gln381Lys)SNV Likely pathogenic 12324 rs121917762 11:2186957-2186957 11:2165727-2165727
37 TH NM_000360.4(TH):c.714_715del (p.Leu239fs)deletion Likely pathogenic 590824 rs1564918287 11:2188243-2188244 11:2167013-2167014
38 TH NM_000360.4(TH):c.1282C>T (p.Gln428Ter)SNV Likely pathogenic 188890 rs786204540 11:2186514-2186514 11:2165284-2165284
39 TH NM_000360.4(TH):c.12dup (p.Asp5fs)duplication Likely pathogenic 370720 rs1057516716 11:2193004-2193005 11:2171774-2171775
40 TH NM_000360.4(TH):c.1104+1G>ASNV Likely pathogenic 370858 rs1057516819 11:2187231-2187231 11:2166001-2166001
41 TH NM_000360.4(TH):c.997del (p.Leu333fs)deletion Likely pathogenic 371299 rs1057517162 11:2187760-2187760 11:2166530-2166530
42 TH NM_000360.4(TH):c.977+1G>ASNV Likely pathogenic 370745 rs1057516736 11:2187862-2187862 11:2166632-2166632
43 TH NM_000360.4(TH):c.921del (p.Phe308fs)deletion Likely pathogenic 370441 rs1057516491 11:2187919-2187919 11:2166689-2166689
44 TH NM_000360.4(TH):c.717del (p.Lys240fs)deletion Likely pathogenic 370714 rs1057516712 11:2188241-2188241 11:2167011-2167011
45 TH NM_000360.4(TH):c.487+2T>CSNV Likely pathogenic 371096 rs1057517003 11:2189719-2189719 11:2168489-2168489
46 TH NM_000360.4(TH):c.91-9_107deldeletion Likely pathogenic 370929 rs1057516874 11:2191085-2191110 11:2169855-2169880
47 TH NM_000360.4(TH):c.292C>T (p.Arg98Ter)SNV Likely pathogenic 374732 rs1057519220 11:2190900-2190900 11:2169670-2169670
48 TH NM_000360.4(TH):c.1368C>T (p.Ser456=)SNV Conflicting interpretations of pathogenicity 304068 rs45538536 11:2185589-2185589 11:2164359-2164359
49 TH NM_000360.4(TH):c.12C>T (p.Pro4=)SNV Conflicting interpretations of pathogenicity 374422 rs147131010 11:2193005-2193005 11:2171775-2171775
50 TH NM_000360.4(TH):c.1470C>G (p.Ala490=)SNV Conflicting interpretations of pathogenicity 304065 rs777477661 11:2185487-2185487 11:2164257-2164257

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

73 (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
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
11.24 INS-IGF2 INS
2 10.9 TH INS
3
Show member pathways
10.42 TH GCH1
4 9.92 TH INS

GO Terms for Segawa Syndrome, Autosomal Recessive

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 9.26 TH GCH1
2 cognition GO:0050890 9.16 TH INS
3 positive regulation of nitric-oxide synthase activity GO:0051000 8.96 INS GCH1
4 dopamine biosynthetic process GO:0042416 8.62 TH GCH1

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

# Name GO ID Score Top Affiliating Genes
1 hormone activity GO:0005179 8.62 INS-IGF2 INS

Sources for Segawa Syndrome, Autosomal Recessive

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
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35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
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48 NCI
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50 NDF-RT
53 NINDS
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56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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