ARSEGS
MCID: SGW002
MIFTS: 54

Segawa Syndrome, Autosomal Recessive (ARSEGS)

Categories: 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 57 53 25 29 6 40
Tyrosine Hydroxylase Deficiency 57 24 53 25 59 75
Dystonia, Dopa-Responsive, Autosomal Recessive 57 75 55
Parkinsonism, Infantile, Autosomal Recessive 57 53
Autosomal Recessive Dopa-Responsive Dystonia 59 75
Autosomal Recessive Infantile Parkinsonism 25 75
Segawa Syndrome, Recessive 57 13
Dystonia, Dopa-Responsive, with or Without Hyperphenylalaninemia, Autosomal Recessive 73
Tyrosine Hydroxylase-Deficient Dopa-Responsive Dystonia 59
Dystonia, Dopa Responsive, Autosomal Recessive 53
Dopa-Responsive Dystonia, Autosomal Recessive 57
Dopa Responsive Dystonia, Autosomal Recessive 53
Autosomal Recessive Segawa Syndrome 59
Segawa Syndrome Autosomal Recessive 75
Tyrosine Hydroxylase 13
Th-Deficient Drd 25
Th Deficiency 25
Arsegs 75
Dyt5b 59
Thd 75

Characteristics:

Orphanet epidemiological data:

59
autosomal recessive dopa-responsive dystonia
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Europe); Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
segawa syndrome, autosomal recessive:
Onset and clinical course variable expressivity infantile onset
Inheritance autosomal recessive inheritance


GeneReviews:

24
Penetrance Penetrance appears to be complete in individuals with biallelic th pathogenic variants...

Classifications:



Summaries for Segawa Syndrome, Autosomal Recessive

NIH Rare Diseases : 53 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.

MalaCards based summary : Segawa Syndrome, Autosomal Recessive, also known as tyrosine hydroxylase deficiency, is related to dystonia, dopa-responsive and myotonia congenita, autosomal dominant, and has symptoms including tremor, gait ataxia and abnormality of extrapyramidal motor function. 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. Affiliated tissues include testes, brain and fetal brain, and related phenotypes are ptosis and constipation

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 : 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)

UniProtKB/Swiss-Prot : 75 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 124)
# Related Disease Score Top Affiliating Genes
1 dystonia, dopa-responsive 32.0 GCH1 TH
2 myotonia congenita, autosomal dominant 11.3
3 hyperphenylalaninemia, bh4-deficient, c 11.2
4 hyperphenylalaninemia, bh4-deficient, a 11.2
5 neuroblastoma 10.5
6 schizophrenia 10.4
7 pheochromocytoma 10.3
8 hypoxia 10.3
9 hemorrhoid 10.2
10 dystonia, dopa-responsive, due to sepiapterin reductase deficiency 10.2
11 dystonia 10.2
12 major affective disorder 1 10.2
13 major affective disorder 8 10.2
14 major affective disorder 7 10.2
15 major affective disorder 9 10.2
16 alzheimer disease 10.2
17 depression 10.2
18 portal hypertension 10.1
19 internal hemorrhoid 10.1
20 hereditary dystonia 10.0 GCH1 TH
21 hypertension, essential 10.0
22 sudden infant death syndrome 10.0
23 aging 10.0
24 hyperprolactinemia 10.0
25 mood disorder 10.0
26 hyperphenylalaninemia, bh4-deficient, b 10.0 GCH1 TH
27 hyperphenylalaninemia 10.0 GCH1 TH
28 tetrahydrobiopterin deficiency 10.0 GCH1 TH
29 dystonia 1, torsion, autosomal dominant 10.0 GCH1 TH
30 stiff-person syndrome 10.0 INS TH
31 diabetes mellitus, insulin-dependent, 2 10.0 INS INS-IGF2
32 dopamine beta-hydroxylase deficiency, congenital 10.0 GCH1 TH
33 diabetes mellitus, insulin-dependent 10.0 INS INS-IGF2
34 type 1 diabetes mellitus 2 10.0 INS INS-IGF2
35 hyperproinsulinemia 10.0 INS INS-IGF2
36 dystonia 11, myoclonic 10.0 GCH1 TH
37 maturity-onset diabetes of the young 10.0 INS INS-IGF2
38 maturity-onset diabetes of the young, type 10 10.0 INS INS-IGF2
39 gilles de la tourette syndrome 10.0
40 parkinson disease, late-onset 10.0
41 supranuclear palsy, progressive, 1 10.0
42 anxiety 10.0
43 myocardial infarction 10.0
44 alopecia 10.0
45 arthritis 10.0
46 pulmonary edema 10.0
47 interstitial cystitis 10.0
48 cystitis 10.0
49 ischemia 10.0
50 alopecia areata 10.0

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

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
ptosis
oculogyric crises

Head And Neck Face:
masked facies

Neurologic Central Nervous System:
tremor
gait ataxia
dystonia
motor delay
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

Human phenotypes related to Segawa Syndrome, Autosomal Recessive:

59 32 (show all 37)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ptosis 59 32 frequent (33%) Frequent (79-30%) HP:0000508
2 constipation 59 32 frequent (33%) Frequent (79-30%) HP:0002019
3 delayed speech and language development 59 32 frequent (33%) Frequent (79-30%) HP:0000750
4 intellectual disability, mild 59 32 occasional (7.5%) Occasional (29-5%) HP:0001256
5 fever 59 32 occasional (7.5%) Occasional (29-5%) HP:0001945
6 irritability 59 32 frequent (33%) Frequent (79-30%) HP:0000737
7 feeding difficulties 59 32 frequent (33%) Frequent (79-30%) HP:0011968
8 myoclonus 59 32 occasional (7.5%) Frequent (79-30%) HP:0001336
9 gait ataxia 59 32 frequent (33%) Frequent (79-30%) HP:0002066
10 babinski sign 59 32 frequent (33%) Frequent (79-30%) HP:0003487
11 pes cavus 59 32 frequent (33%) Frequent (79-30%) HP:0001761
12 motor delay 59 32 frequent (33%) Frequent (79-30%) HP:0001270
13 talipes equinovarus 59 32 frequent (33%) Frequent (79-30%) HP:0001762
14 rigidity 59 32 frequent (33%) Frequent (79-30%) HP:0002063
15 postural tremor 59 32 frequent (33%) Frequent (79-30%) HP:0002174
16 lethargy 59 32 frequent (33%) Frequent (79-30%) HP:0001254
17 progressive encephalopathy 59 32 very rare (1%) Very rare (<4-1%) HP:0002448
18 bradykinesia 59 32 frequent (33%) Frequent (79-30%) HP:0002067
19 hypokinesia 59 32 frequent (33%) Frequent (79-30%) HP:0002375
20 generalized hypotonia 59 32 very rare (1%) Very rare (<4-1%) HP:0001290
21 brisk reflexes 59 32 frequent (33%) Frequent (79-30%) HP:0001348
22 generalized dystonia 59 32 occasional (7.5%) Occasional (29-5%) HP:0007325
23 parkinsonism 59 32 frequent (33%) Frequent (79-30%) HP:0001300
24 excessive salivation 59 32 frequent (33%) Frequent (79-30%) HP:0003781
25 focal dystonia 59 32 frequent (33%) Frequent (79-30%) HP:0004373
26 oculogyric crisis 59 32 frequent (33%) Frequent (79-30%) HP:0010553
27 night sweats 59 32 frequent (33%) Frequent (79-30%) HP:0030166
28 lower limb hyperreflexia 59 32 frequent (33%) Frequent (79-30%) HP:0002395
29 central hypotonia 59 32 frequent (33%) Frequent (79-30%) HP:0011398
30 limb dystonia 59 32 frequent (33%) Frequent (79-30%) HP:0002451
31 decreased csf homovanillic acid 59 32 frequent (33%) Frequent (79-30%) HP:0003785
32 ataxia 59 Frequent (79-30%)
33 tremor 32 HP:0001337
34 mask-like facies 32 HP:0000298
35 abnormality of extrapyramidal motor function 59 Frequent (79-30%)
36 parkinsonism with favorable response to dopaminergic medication 32 HP:0002548
37 muscular hypotonia of the trunk 32 HP:0008936

UMLS symptoms related to Segawa Syndrome, Autosomal Recessive:


tremor, gait ataxia, abnormality of extrapyramidal motor function, 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 Segawa Syndrome, Autosomal Recessive 29 TH

Anatomical Context for Segawa Syndrome, Autosomal Recessive

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

41
Testes, Brain, Fetal Brain, Thyroid

Publications for Segawa Syndrome, Autosomal Recessive

Articles related to Segawa Syndrome, Autosomal Recessive:

(show all 30)
# Title Authors Year
1
An Indian Family with Tyrosine Hydroxylase Deficiency. ( 28667724 )
2017
2
Neuromotor and cognitive outcomes of early treatment in tyrosine hydroxylase deficiency type B. ( 28039315 )
2017
3
An unusual presentation of tyrosine hydroxylase deficiency. ( 29225908 )
2017
4
Study of a fetal brain affected by a severe form of tyrosine hydroxylase deficiency, a rare cause of early parkinsonism. ( 26686676 )
2016
5
Brain catecholamine depletion and motor impairment in a Th knock-in mouse with type B tyrosine hydroxylase deficiency. ( 26276013 )
2015
6
Cerebrospinal fluid synaptic proteins as useful biomarkers in tyrosine hydroxylase deficiency. ( 25468651 )
2015
7
Levodopa-induced dyskinesias in tyrosine hydroxylase deficiency. ( 23389938 )
2013
8
Tyrosine hydroxylase deficiency in Taiwanese infants. ( 22264700 )
2012
9
Novel mutations in the tyrosine hydroxylase gene in the first Czech patient with tyrosine hydroxylase deficiency. ( 22691284 )
2012
10
Myoclonus-dystonia syndrome due to tyrosine hydroxylase deficiency. ( 22815559 )
2012
11
Expanding phenotype and clinical analysis of tyrosine hydroxylase deficiency. ( 20823027 )
2011
12
Tyrosine hydroxylase deficiency in three Greek patients with a common ancestral mutation. ( 20198643 )
2010
13
Biochemical and molecular characterization of tyrosine hydroxylase deficiency in Hong Kong Chinese. ( 20056467 )
2010
14
Tyrosine hydroxylase deficiency: a treatable disorder of brain catecholamine biosynthesis. ( 20430833 )
2010
15
Tyrosine hydroxylase deficiency with severe clinical course. ( 19282209 )
2009
16
Tyrosine hydroxylase deficiency presenting with a biphasic clinical course. ( 18058633 )
2007
17
Pre- and postnatal diagnosis of tyrosine hydroxylase deficiency. ( 16049992 )
2005
18
Long-term course of L-dopa-responsive dystonia caused by tyrosine hydroxylase deficiency. ( 15505183 )
2004
19
Dopa-responsive dystonia due to mild tyrosine hydroxylase deficiency. ( 14705130 )
2004
20
Tyrosine hydroxylase deficiency causes progressive encephalopathy and dopa-nonresponsive dystonia. ( 12891655 )
2003
21
Tyrosine hydroxylase deficiency: clinical manifestations of catecholamine insufficiency in infancy. ( 11921123 )
2002
22
L-dopa and selegiline for tyrosine hydroxylase deficiency. ( 11241071 )
2001
23
L-dopa-responsive infantile hypokinetic rigid parkinsonism due to tyrosine hydroxylase deficiency. ( 11134401 )
2000
24
Tyrosine hydroxylase deficiency with severe clinical course: clinical and biochemical investigations and optimization of therapy. ( 10753262 )
2000
25
Tyrosine hydroxylase deficiency unresponsive to L-dopa treatment with unusual clinical and biochemical presentation. ( 11196107 )
2000
26
Biochemical and molecular genetic characteristics of the severe form of tyrosine hydroxylase deficiency. ( 10585338 )
1999
27
A review of biochemical and molecular genetic aspects of tyrosine hydroxylase deficiency including a novel mutation (291delC). ( 10407773 )
1999
28
Biochemical hallmarks of tyrosine hydroxylase deficiency. ( 9732974 )
1998
29
Tyrosine Hydroxylase Deficiency ( 20301610 )
1993
30
Tyrosine hydroxylase deficiency. A unifying concept of Parkinsonism. ( 4102972 )
1971

Variations for Segawa Syndrome, Autosomal Recessive

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

75 (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
10 TH p.Arg296Gln VAR_071717 rs199961079
11 TH p.Gly315Ser VAR_071718 rs128848347
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 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

ClinVar genetic disease variations for Segawa Syndrome, Autosomal Recessive:

6 (show top 50) (show all 233)
# 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.662T> C (p.Met221Thr) single nucleotide variant Pathogenic rs104894434 GRCh38 Chromosome 14, 54844108: 54844108
4 GCH1 NM_000161.2(GCH1): c.323G> A (p.Gly108Asp) single nucleotide variant Likely pathogenic rs104894435 GRCh37 Chromosome 14, 55369059: 55369059
5 GCH1 NM_000161.2(GCH1): c.323G> A (p.Gly108Asp) single nucleotide variant Likely pathogenic rs104894435 GRCh38 Chromosome 14, 54902341: 54902341
6 GCH1 NM_000161.2(GCH1): c.671A> G (p.Lys224Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs41298442 GRCh37 Chromosome 14, 55310817: 55310817
7 GCH1 NM_000161.2(GCH1): c.671A> G (p.Lys224Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs41298442 GRCh38 Chromosome 14, 54844099: 54844099
8 GCH1 NM_000161.2(GCH1): c.747G> C (p.Arg249Ser) single nucleotide variant Uncertain significance rs104894442 GRCh37 Chromosome 14, 55310741: 55310741
9 GCH1 NM_000161.2(GCH1): c.747G> C (p.Arg249Ser) single nucleotide variant Uncertain significance rs104894442 GRCh38 Chromosome 14, 54844023: 54844023
10 GCH1 NM_000161.2(GCH1): c.595C> G (p.Pro199Ala) single nucleotide variant Pathogenic rs137852633 GRCh37 Chromosome 14, 55312517: 55312517
11 GCH1 NM_000161.2(GCH1): c.595C> G (p.Pro199Ala) single nucleotide variant Pathogenic rs137852633 GRCh38 Chromosome 14, 54845799: 54845799
12 TH NM_199292.2(TH): c.1198-24T> A single nucleotide variant Pathogenic rs587776767 GRCh37 Chromosome 11, 2187017: 2187017
13 TH NM_199292.2(TH): c.1198-24T> A single nucleotide variant Pathogenic rs587776767 GRCh38 Chromosome 11, 2165787: 2165787
14 TH TH, 1-BP DEL, 291C deletion Pathogenic
15 TH NM_199292.2(TH): c.1234C> A (p.Gln412Lys) single nucleotide variant Likely pathogenic rs121917762 GRCh37 Chromosome 11, 2186957: 2186957
16 TH NM_199292.2(TH): c.1234C> A (p.Gln412Lys) single nucleotide variant Likely pathogenic rs121917762 GRCh38 Chromosome 11, 2165727: 2165727
17 TH NM_199292.2(TH): c.707T> C (p.Leu236Pro) single nucleotide variant Pathogenic/Likely pathogenic rs121917763 GRCh37 Chromosome 11, 2189126: 2189126
18 TH NM_199292.2(TH): c.707T> C (p.Leu236Pro) single nucleotide variant Pathogenic/Likely pathogenic rs121917763 GRCh38 Chromosome 11, 2167896: 2167896
19 TH NM_199292.2(TH): c.1481C> T (p.Thr494Met) single nucleotide variant Conflicting interpretations of pathogenicity rs45471299 GRCh37 Chromosome 11, 2185569: 2185569
20 TH NM_199292.2(TH): c.1481C> T (p.Thr494Met) single nucleotide variant Conflicting interpretations of pathogenicity rs45471299 GRCh38 Chromosome 11, 2164339: 2164339
21 TH NM_199292.2(TH): c.698G> A (p.Arg233His) single nucleotide variant Pathogenic rs80338892 GRCh37 Chromosome 11, 2189135: 2189135
22 TH NM_199292.2(TH): c.698G> A (p.Arg233His) single nucleotide variant Pathogenic rs80338892 GRCh38 Chromosome 11, 2167905: 2167905
23 TH NM_199292.2(TH): c.1010G> A (p.Arg337His) single nucleotide variant Uncertain significance rs28934580 GRCh37 Chromosome 11, 2187923: 2187923
24 TH NM_199292.2(TH): c.1010G> A (p.Arg337His) single nucleotide variant Uncertain significance rs28934580 GRCh38 Chromosome 11, 2166693: 2166693
25 TH NM_199292.2(TH): c.826A> C (p.Thr276Pro) single nucleotide variant Pathogenic rs28934581 GRCh37 Chromosome 11, 2188225: 2188225
26 TH NM_199292.2(TH): c.826A> C (p.Thr276Pro) single nucleotide variant Pathogenic rs28934581 GRCh38 Chromosome 11, 2166995: 2166995
27 TH NM_199292.2(TH): c.941C> T (p.Thr314Met) single nucleotide variant Uncertain significance rs121917764 GRCh37 Chromosome 11, 2187992: 2187992
28 TH NM_199292.2(TH): c.941C> T (p.Thr314Met) single nucleotide variant Uncertain significance rs121917764 GRCh38 Chromosome 11, 2166762: 2166762
29 TH TH, -70G-A single nucleotide variant Pathogenic
30 TH NM_199292.2(TH): c.1076G> T (p.Cys359Phe) single nucleotide variant Pathogenic rs121917765 GRCh37 Chromosome 11, 2187774: 2187774
31 TH NM_199292.2(TH): c.1076G> T (p.Cys359Phe) single nucleotide variant Pathogenic rs121917765 GRCh38 Chromosome 11, 2166544: 2166544
32 TH NM_199292.2(TH): c.334G> A (p.Val112Met) single nucleotide variant Benign rs6356 GRCh37 Chromosome 11, 2190951: 2190951
33 TH NM_199292.2(TH): c.334G> A (p.Val112Met) single nucleotide variant Benign rs6356 GRCh38 Chromosome 11, 2169721: 2169721
34 INS; INS-IGF2; TH NM_000207.2(INS): c.-9C> T single nucleotide variant Benign/Likely benign rs5505 GRCh37 Chromosome 11, 2182210: 2182210
35 INS; INS-IGF2; TH NM_000207.2(INS): c.-9C> T single nucleotide variant Benign/Likely benign rs5505 GRCh38 Chromosome 11, 2160980: 2160980
36 TH NM_000360.3(TH): c.1282C> T (p.Gln428Ter) single nucleotide variant Likely pathogenic rs786204540 GRCh38 Chromosome 11, 2165284: 2165284
37 TH NM_000360.3(TH): c.1282C> T (p.Gln428Ter) single nucleotide variant Likely pathogenic rs786204540 GRCh37 Chromosome 11, 2186514: 2186514
38 TH NM_000360.3(TH): c.283delG (p.Ala95Argfs) deletion Pathogenic rs797045111 GRCh38 Chromosome 11, 2169679: 2169679
39 TH NM_000360.3(TH): c.283delG (p.Ala95Argfs) deletion Pathogenic rs797045111 GRCh37 Chromosome 11, 2190909: 2190909
40 TH NM_199292.2(TH): c.842A> T (p.Glu281Val) single nucleotide variant Uncertain significance rs878855309 GRCh38 Chromosome 11, 2166979: 2166979
41 TH NM_199292.2(TH): c.842A> T (p.Glu281Val) single nucleotide variant Uncertain significance rs878855309 GRCh37 Chromosome 11, 2188209: 2188209
42 TH NM_199292.2(TH): c.777G> A (p.Glu259=) single nucleotide variant Conflicting interpretations of pathogenicity rs11564716 GRCh38 Chromosome 11, 2167446: 2167446
43 TH NM_199292.2(TH): c.777G> A (p.Glu259=) single nucleotide variant Conflicting interpretations of pathogenicity rs11564716 GRCh37 Chromosome 11, 2188676: 2188676
44 TH NM_199292.2(TH): c.16G> A (p.Ala6Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs74555599 GRCh38 Chromosome 11, 2171771: 2171771
45 TH NM_199292.2(TH): c.16G> A (p.Ala6Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs74555599 GRCh37 Chromosome 11, 2193001: 2193001
46 INS; INS-IGF2; TH NM_000207.2(INS): c.*9C> T single nucleotide variant Benign/Likely benign rs3842752 GRCh38 Chromosome 11, 2159843: 2159843
47 INS; INS-IGF2; TH NM_000207.2(INS): c.*9C> T single nucleotide variant Benign/Likely benign rs3842752 GRCh37 Chromosome 11, 2181073: 2181073
48 INS; INS-IGF2; TH NM_000207.2(INS): c.187+11T> C single nucleotide variant Benign rs5506 GRCh37 Chromosome 11, 2182004: 2182004
49 INS; INS-IGF2; TH NM_000207.2(INS): c.187+11T> C single nucleotide variant Benign rs5506 GRCh38 Chromosome 11, 2160774: 2160774
50 INS; TH NM_199292.2(TH): c.1293+9C> T single nucleotide variant Benign/Likely benign rs11564717 GRCh38 Chromosome 11, 2165659: 2165659

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
11.14 INS INS-IGF2
2 10.7 INS TH
3
Show member pathways
10.09 GCH1 TH

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

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 INS-IGF2

Sources for Segawa Syndrome, Autosomal Recessive

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
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44 MeSH
45 MESH via Orphanet
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58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
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74 UMLS via Orphanet
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