STHE
MCID: HYP097
MIFTS: 58

Hyperekplexia (STHE)

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

Aliases & Classifications for Hyperekplexia

MalaCards integrated aliases for Hyperekplexia:

Name: Hyperekplexia 12 76 24 25 59 37 29 55 6 15
Hereditary Hyperekplexia 12 53 25 59
Kok Disease 12 53 59
Congenital Stiff Man Syndrome 12 59
Startle Disease, Familial 24 53
Hyperekplexia, Hereditary 24 40
Familial Startle Disease 12 59
Hereditary Hyperexplexia 59 73
Hyperekplexia Hereditary 29 6
Stiff-Baby Syndrome 53 25
Startle Syndrome 24 25
Sthe 53 25
Stiff-Person Syndrome, Congenital 53
Congenital Stiff-Person Syndrome 25
Stiff-Man Syndrome, Congenital 53
Startle Reaction, Exaggerated 53
Congenital Stiff-Man Syndrome 25
Exaggerated Startle Reaction 53
Hyperexplexia Hereditary 53
Familial Hyperekplexia 25
Stiff-Person Syndrome 73
Stiff Baby Syndrome 59
Startle Disease 12

Characteristics:

Orphanet epidemiological data:

59
hereditary hyperekplexia
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

GeneReviews:

24
Penetrance Overall, the penetrance of hyperekplexia is 100%; however, in one family a mother who had the same variant as her two affected children was asymptomatic [kwok et al 2001]...

Classifications:



Summaries for Hyperekplexia

NIH Rare Diseases : 53 Hereditary hyperekplexia is a nervous system disorder (neurological disorder), that is usually noticed shortly after birth. Symptoms in a newborn include generalized muscle stiffness while awake (hypertonia) and exaggerated startle reflex to unexpected loud noises, visual stimuli, or touch. Following the startle reaction, infants experience a brief period in which they are very rigid and are unable to move. During these rigid periods, some infants may stop breathing (apnea), which can be fatal and has been associated with sudden infant death syndrome (SIDS). Muscle stiffness usually fades completely during the first few years of life. However the exaggerated startle reflex and periods of rigidity may continue throughout a person's life. Depending on the severity of the continued symptoms, a child or adult with hereditary hyperekplexia may have an increased risk of falling or otherwise injuring themselves. In some cases, children with hereditary hyperekplexia may have mild developmental delays.Abdominal hernias and congenital dislocation of the hip have also been associated with hereditary hyperekplexia. Diagnosis of hereditary hyperekplexia requires the three main features: generalized stiffness immediately after birth, excessive startle reflex to unexpected stimuli, and a short period of generalized stiffness following the startle response. Of note, the results of routine blood tests, urinalysis, brain imaging studies, or EEG are usually normal. Hereditary hyperekplexia has different inheritance patterns and is associated with changes (mutations) in at least five genes. Genetic testing is available to detect the genetic changes.Clonazepam is the most commonly used treatment and successfully reduces symptoms in most people.

MalaCards based summary : Hyperekplexia, also known as hereditary hyperekplexia, is related to hyperekplexia 2 and hyperekplexia 1, and has symptoms including fever, myoclonus and opisthotonus. An important gene associated with Hyperekplexia is GLRA1 (Glycine Receptor Alpha 1), and among its related pathways/superpathways are Neuroactive ligand-receptor interaction and Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds. The drugs Glycine and Neurotransmitter Agents have been mentioned in the context of this disorder. Affiliated tissues include brain, testes and heart, and related phenotypes are intellectual disability and seizures

Disease Ontology : 12 A nervous system disease characterized by an exaggerated startle response to sudden, unexpected auditory or tactile stimuli and hypertonia.

Genetics Home Reference : 25 Hereditary hyperekplexia is a condition in which affected infants have increased muscle tone (hypertonia) and an exaggerated startle reaction to unexpected stimuli, especially loud noises. Following the startle reaction, infants experience a brief period in which they are very rigid and unable to move. During these rigid periods, some infants stop breathing, which, if prolonged, can be fatal. Infants with hereditary hyperekplexia have hypertonia at all times, except when they are sleeping.

Wikipedia : 76 Hyperekplexia ("exaggerated surprise") is a neurologic disorder classically characterised by pronounced... more...

GeneReviews: NBK1260

Related Diseases for Hyperekplexia

Diseases in the Hyperekplexia family:

Hyperekplexia 1 Hyperekplexia 3
Hyperekplexia 2 Hyperekplexia 4
Sporadic Hyperekplexia

Diseases related to Hyperekplexia via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 37)
# Related Disease Score Top Affiliating Genes
1 hyperekplexia 2 12.5
2 hyperekplexia 1 12.5
3 hyperekplexia 3 12.4
4 hyperekplexia 4 12.4
5 sporadic hyperekplexia 12.2
6 epileptic encephalopathy, early infantile, 8 12.0
7 stiff-person syndrome 11.5
8 molybdenum cofactor deficiency 11.4
9 jumping frenchmen of maine 11.1
10 encephalopathy 10.2
11 spastic paraparesis 10.2
12 molybdenum cofactor deficiency, complementation group a 10.1 GPHN MOCS1
13 adolescence-adult electroclinical syndrome 10.1 GABRG2 TBC1D24
14 microcephaly 10.1
15 status epilepticus 10.1
16 epilepsy 10.1
17 infancy electroclinical syndrome 10.1 GABRG2 TBC1D24
18 childhood electroclinical syndrome 10.0 GABRG2 TBC1D24
19 unverricht-lundborg syndrome 10.0 GLRA1 TBC1D24
20 agoraphobia 10.0 GLRB SLC6A2
21 generalized epilepsy with febrile seizures plus 10.0 TBC1D24 SCN9A GABRG2
22 epileptic encephalopathy, early infantile, 6 10.0 TBC1D24 SCN9A GABRG2
23 atrial standstill 1 9.9
24 creutzfeldt-jakob disease 9.9
25 multiple sclerosis 9.9
26 sudden infant death syndrome 9.9
27 sulfite oxidase deficiency, isolated 9.9
28 muscular dystrophy, congenital, lmna-related 9.9
29 alacrima, achalasia, and mental retardation syndrome 9.9
30 sleep apnea 9.9
31 inguinal hernia 9.9
32 infantile epileptic encephalopathy 9.9
33 muscular dystrophy 9.9
34 fukuyama type muscular dystrophy 9.9
35 myoclonus 9.9
36 tremor 9.9
37 startle epilepsy 9.9

Graphical network of the top 20 diseases related to Hyperekplexia:



Diseases related to Hyperekplexia

Symptoms & Phenotypes for Hyperekplexia

Human phenotypes related to Hyperekplexia:

59 32 (show all 21)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 59 32 occasional (7.5%) Occasional (29-5%) HP:0001249
2 seizures 59 32 occasional (7.5%) Occasional (29-5%) HP:0001250
3 ataxia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001251
4 spasticity 59 32 hallmark (90%) Very frequent (99-80%) HP:0001257
5 gait disturbance 59 32 frequent (33%) Frequent (79-30%) HP:0001288
6 hyperreflexia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001347
7 sleep disturbance 59 32 frequent (33%) Frequent (79-30%) HP:0002360
8 joint stiffness 59 32 hallmark (90%) Very frequent (99-80%) HP:0001387
9 umbilical hernia 59 32 frequent (33%) Frequent (79-30%) HP:0001537
10 gastroesophageal reflux 59 32 hallmark (90%) Very frequent (99-80%) HP:0002020
11 myoclonus 59 32 hallmark (90%) Very frequent (99-80%) HP:0001336
12 muscle stiffness 59 32 hallmark (90%) Very frequent (99-80%) HP:0003552
13 hip dislocation 59 32 occasional (7.5%) Occasional (29-5%) HP:0002827
14 rigidity 59 32 hallmark (90%) Very frequent (99-80%) HP:0002063
15 esophagitis 59 32 hallmark (90%) Very frequent (99-80%) HP:0100633
16 fasciculations 59 32 hallmark (90%) Very frequent (99-80%) HP:0002380
17 hiatus hernia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002036
18 joint dislocation 59 Occasional (29-5%)
19 hypertonia 59 Very frequent (99-80%)
20 abnormality of movement 59 Very frequent (99-80%)
21 hernia 59 Frequent (79-30%)

UMLS symptoms related to Hyperekplexia:


fever, myoclonus, opisthotonus, muscle rigidity, increased sweating, hyperexplexia

GenomeRNAi Phenotypes related to Hyperekplexia according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased vaccinia virus (VACV) infection GR00249-S 9.6 ADRA1B ADRA1D ARHGEF9 ATAD1 DPP6 GABRG2

MGI Mouse Phenotypes related to Hyperekplexia:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.17 ADRA1B ADRA1D ARHGEF9 ATAD1 GABRG2 GARS
2 growth/size/body region MP:0005378 10 ADRA1B ATAD1 GABRG2 GARS GLRA1 GLRB
3 mortality/aging MP:0010768 10 ADRA1B ATAD1 GABRG2 GARS GLRA1 GLRB
4 muscle MP:0005369 9.56 ADRA1B ADRA1D GARS GLRA1 GLRB SLC6A5
5 nervous system MP:0003631 9.5 ADRA1B ADRA1D ARHGEF9 ATAD1 DPP6 GABRG2

Drugs & Therapeutics for Hyperekplexia

Drugs for Hyperekplexia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Glycine Approved, Nutraceutical, Vet_approved Not Applicable 56-40-6 750
2 Neurotransmitter Agents Not Applicable

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Effects of Mutations of the Glycine Gene Associated With Hyperekplexia on Central Pain Processing Terminated NCT01476514 Not Applicable

Search NIH Clinical Center for Hyperekplexia

Genetic Tests for Hyperekplexia

Genetic tests related to Hyperekplexia:

# Genetic test Affiliating Genes
1 Hyperekplexia 29
2 Hyperekplexia Hereditary 29 GLRA1 GPHN

Anatomical Context for Hyperekplexia

MalaCards organs/tissues related to Hyperekplexia:

41
Brain, Testes, Heart, Eye, Cortex

Publications for Hyperekplexia

Articles related to Hyperekplexia:

(show top 50) (show all 187)
# Title Authors Year
1
Expanding the phenotype of TRAK1 mutations: hyperekplexia and refractory status epilepticus. ( 29846532 )
2018
2
A missense mutation A384P associated with human hyperekplexia reveals a desensitization site of glycine receptors. ( 29440552 )
2018
3
Nose-tapping Test in Hyperekplexia. ( 29845961 )
2018
4
Hyperekplexia-associated mutations in the neuronal glycine transporter 2. ( 29859229 )
2018
5
Weird Laughing in Hyperekplexia: A new phenotype associated with a novel mutation in the GLRA1 gene? ( 29602144 )
2018
6
Mutations affecting glycinergic neurotransmission in hyperekplexia increase pain sensitivity. ( 29149236 )
2018
7
Neonatal tremor episodes and hyperekplexia-like presentation at onset in a child with SCN8A developmental and epileptic encephalopathy. ( 30078772 )
2018
8
A child with hyperekplexia and epileptic myoclonus. ( 30078784 )
2018
9
GLRA1 mutation and long-term follow-up of the first hyperekplexia family. ( 30109271 )
2018
10
A novel nonsense autosomal dominant mutation in the GLRA1 gene causing hyperekplexia. ( 30182260 )
2018
11
Familiar Hyperekplexia, a Potential Cause of Cautious Gait: A New Korean Case and a Systematic Review of Phenotypes. ( 28122427 )
2017
12
Sporadic Hyperekplexia Plus Syndrome. ( 28553377 )
2017
13
Clinical and Electrophysiological Findings in Two Siblings with Familial Hyperekplexia. ( 28566967 )
2017
14
Hyperekplexia: A forgotten diagnosis clinched by next-generation sequencing. ( 28879899 )
2017
15
Sporadic hyperekplexia due to self-limiting brainstem encephalopathy. ( 29062233 )
2017
16
A novel compound mutation in GLRA1 cause hyperekplexia in a Chinese boy- a case report and review of the literature. ( 28985719 )
2017
17
Teaching Video NeuroImages: Hyperekplexia: A syndrome of pathologic startle responses. ( 28348128 )
2017
18
Hyperekplexia: Report on phenotype and genotype of 16 Jordanian patients. ( 27843043 )
2016
19
A de novo CTNNB1 nonsense mutation associated with syndromic atypical hyperekplexia, microcephaly and intellectual disability: a case report. ( 26968164 )
2016
20
Investigating the Mechanism by Which Gain-of-function Mutations to the I+1 Glycine Receptor Cause Hyperekplexia. ( 27226610 )
2016
21
Hyperekplexia, microcephaly and simplified gyral pattern caused by novel ASNS mutations, case report. ( 27422383 )
2016
22
Disturbed neuronal ER-Golgi sorting of unassembled glycine receptors suggests altered subcellular processing is a cause of human hyperekplexia. ( 25568133 )
2015
23
Hyperekplexia as the presenting symptom of Creutzfeldt-Jakob disease. ( 29595818 )
2015
24
Molecular basis of a new form of hyperekplexia. ( 26531557 )
2015
25
Disturbances of Ligand Potency and Enhanced Degradation of the Human Glycine Receptor at Affected Positions G160 and T162 Originally Identified in Patients Suffering from Hyperekplexia. ( 26733802 )
2015
26
Anesthetic management of a parturient with hyperekplexia. ( 25867194 )
2015
27
Molecular basis of the dominant negative effect of a glycine transporter 2 mutation associated with hyperekplexia. ( 25480793 )
2015
28
Ethnicity can predict GLRA1 genotypes in hyperekplexia. ( 24970905 )
2014
29
A confusing coincidence: neonatal hypoglycemic seizures and hyperekplexia. ( 24782896 )
2014
30
Neonatal hyperekplexia with homozygous p.R392H mutation in GLRA1. ( 25036534 )
2014
31
Clobazam-Clonazepam Combination Effective for Stimulus-Induced Falling in Hyperekplexia. ( 24453146 )
2014
32
Sporadic hyperekplexia presenting with an ataxic gait. ( 24054400 )
2014
33
Presynaptic glycine receptors as a potential therapeutic target for hyperekplexia disease. ( 24390226 )
2014
34
Novel mutations in the glycine receptor alpha subunit gene in two sisters with hyperekplexia. ( 25079583 )
2014
35
Hyperekplexia: A Chinese Adolescent With 2 Novel Mutations of the GLRA1 Gene. ( 23143726 )
2014
36
Hyperekplexia: overexcitable and underdiagnosed. ( 25407752 )
2014
37
Identification of a novel missense GLRA1 gene mutation in hyperekplexia: a case report. ( 24969041 )
2014
38
Infantile spasms and hyperekplexia associated with isolated sulfite oxidase deficiency. ( 24756183 )
2014
39
Clinical and genetic investigation of 17 Japanese patients with hyperekplexia. ( 25356525 )
2014
40
The impact of human hyperekplexia mutations on glycine receptor structure and function. ( 24405574 )
2014
41
Clinical features and genetic analysis of children with hyperekplexia in Korea. ( 22532536 )
2013
42
A Startling Case of Neonatal Hyperekplexia Responsive to Levetiracetam: A New Alternative in Management? ( 23034981 )
2013
43
The GLRA1 missense mutation W170S associates lack of Zn2+ potentiation with human hyperekplexia. ( 24198360 )
2013
44
Analysis of hyperekplexia mutations identifies transmembrane domain rearrangements that mediate glycine receptor activation. ( 24097980 )
2013
45
GLRB is the third major gene of effect in hyperekplexia. ( 23184146 )
2013
46
New hyperekplexia mutations provide insight into glycine receptor assembly, trafficking, and activation mechanisms. ( 24108130 )
2013
47
A 14-year-old girl with hyperekplexia having GLRB mutations. ( 23182654 )
2013
48
Glycine receptor mouse mutants: model systems for human hyperekplexia. ( 23941355 )
2013
49
Genotype-phenotype correlations in hyperekplexia: apnoeas, learning difficulties and speech delay. ( 24030948 )
2013
50
Function of hyperekplexia-causing I+1R271Q/L glycine receptors is restored by shifting the affected residue out of the allosteric signalling pathway. ( 21955162 )
2012

Variations for Hyperekplexia

ClinVar genetic disease variations for Hyperekplexia:

6 (show top 50) (show all 415)
# Gene Variation Type Significance SNP ID Assembly Location
1 GPHN NM_020806.4(GPHN): c.28A> T (p.Asn10Tyr) single nucleotide variant Uncertain significance rs121908539 GRCh37 Chromosome 14, 66975273: 66975273
2 GPHN NM_020806.4(GPHN): c.28A> T (p.Asn10Tyr) single nucleotide variant Uncertain significance rs121908539 GRCh38 Chromosome 14, 66508555: 66508555
3 GLRA1 NM_000171.3(GLRA1): c.896G> T (p.Arg299Leu) single nucleotide variant Likely pathogenic rs121918408 GRCh37 Chromosome 5, 151230967: 151230967
4 GLRA1 NM_000171.3(GLRA1): c.896G> T (p.Arg299Leu) single nucleotide variant Likely pathogenic rs121918408 GRCh38 Chromosome 5, 151851406: 151851406
5 GLRA1 NM_001146040.1(GLRA1): c.896G> A (p.Arg299Gln) single nucleotide variant Pathogenic rs121918408 GRCh37 Chromosome 5, 151230967: 151230967
6 GLRA1 NM_001146040.1(GLRA1): c.896G> A (p.Arg299Gln) single nucleotide variant Pathogenic rs121918408 GRCh38 Chromosome 5, 151851406: 151851406
7 GLRA1 NM_001146040.1(GLRA1): c.815T> A (p.Ile272Asn) single nucleotide variant Pathogenic rs121918409 GRCh37 Chromosome 5, 151231048: 151231048
8 GLRA1 NM_001146040.1(GLRA1): c.815T> A (p.Ile272Asn) single nucleotide variant Pathogenic rs121918409 GRCh38 Chromosome 5, 151851487: 151851487
9 GLRA1 NM_000171.3(GLRA1): c.920A> G (p.Tyr307Cys) single nucleotide variant Pathogenic rs121918410 GRCh37 Chromosome 5, 151208621: 151208621
10 GLRA1 NM_000171.3(GLRA1): c.920A> G (p.Tyr307Cys) single nucleotide variant Pathogenic rs121918410 GRCh38 Chromosome 5, 151829060: 151829060
11 GLRA1 NM_001146040.1(GLRA1): c.882G> C (p.Gln294His) single nucleotide variant Pathogenic rs121918411 GRCh37 Chromosome 5, 151230981: 151230981
12 GLRA1 NM_001146040.1(GLRA1): c.882G> C (p.Gln294His) single nucleotide variant Pathogenic rs121918411 GRCh38 Chromosome 5, 151851420: 151851420
13 GLRA1 NM_001146040.1(GLRA1): c.910A> G (p.Lys304Glu) single nucleotide variant Pathogenic rs121918412 GRCh37 Chromosome 5, 151230953: 151230953
14 GLRA1 NM_001146040.1(GLRA1): c.910A> G (p.Lys304Glu) single nucleotide variant Pathogenic rs121918412 GRCh38 Chromosome 5, 151851392: 151851392
15 GLRA1 NM_001146040.1(GLRA1): c.832C> A (p.Pro278Thr) single nucleotide variant Pathogenic rs121918413 GRCh37 Chromosome 5, 151231031: 151231031
16 GLRA1 NM_001146040.1(GLRA1): c.832C> A (p.Pro278Thr) single nucleotide variant Pathogenic rs121918413 GRCh38 Chromosome 5, 151851470: 151851470
17 GLRA1 NM_000171.3(GLRA1): c.298delC (p.Arg100Alafs) deletion Pathogenic rs281864915 GRCh37 Chromosome 5, 151239524: 151239524
18 GLRA1 NM_000171.3(GLRA1): c.298delC (p.Arg100Alafs) deletion Pathogenic rs281864915 GRCh38 Chromosome 5, 151859963: 151859963
19 GLRA1 NM_000171.3(GLRA1): c.523A> G (p.Met175Val) single nucleotide variant Pathogenic rs121918414 GRCh37 Chromosome 5, 151235898: 151235898
20 GLRA1 NM_000171.3(GLRA1): c.523A> G (p.Met175Val) single nucleotide variant Pathogenic rs121918414 GRCh38 Chromosome 5, 151856337: 151856337
21 GLRA1 NM_001146040.1(GLRA1): c.690C> A (p.Tyr230Ter) single nucleotide variant Pathogenic rs121918415 GRCh37 Chromosome 5, 151234608: 151234608
22 GLRA1 NM_001146040.1(GLRA1): c.690C> A (p.Tyr230Ter) single nucleotide variant Pathogenic rs121918415 GRCh38 Chromosome 5, 151855047: 151855047
23 GLRA1 NM_001146040.1(GLRA1): c.862G> A (p.Val288Met) single nucleotide variant Pathogenic rs121918416 GRCh37 Chromosome 5, 151231001: 151231001
24 GLRA1 NM_001146040.1(GLRA1): c.862G> A (p.Val288Met) single nucleotide variant Pathogenic rs121918416 GRCh38 Chromosome 5, 151851440: 151851440
25 GLRA1 NM_001146040.1(GLRA1): c.777C> G (p.Ser259Arg) single nucleotide variant Pathogenic rs121918417 GRCh37 Chromosome 5, 151231086: 151231086
26 GLRA1 NM_001146040.1(GLRA1): c.777C> G (p.Ser259Arg) single nucleotide variant Pathogenic rs121918417 GRCh38 Chromosome 5, 151851525: 151851525
27 GLRA1 NM_001146040.1(GLRA1): c.(?_-287)_(912+?)del deletion Pathogenic
28 GLRA1 NM_000171.3(GLRA1): c.971C> A (p.Ser324Ter) single nucleotide variant Pathogenic rs121918418 GRCh37 Chromosome 5, 151208570: 151208570
29 GLRA1 NM_000171.3(GLRA1): c.971C> A (p.Ser324Ter) single nucleotide variant Pathogenic rs121918418 GRCh38 Chromosome 5, 151829009: 151829009
30 GLRA1 NM_001146040.1(GLRA1): c.884G> A (p.Ser295Asn) single nucleotide variant Pathogenic rs267606848 GRCh37 Chromosome 5, 151230979: 151230979
31 GLRA1 NM_001146040.1(GLRA1): c.884G> A (p.Ser295Asn) single nucleotide variant Pathogenic rs267606848 GRCh38 Chromosome 5, 151851418: 151851418
32 GLRA1 NM_000171.3(GLRA1): c.1108G> A (p.Gly370Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs116474260 GRCh37 Chromosome 5, 151202476: 151202476
33 GLRA1 NM_000171.3(GLRA1): c.1108G> A (p.Gly370Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs116474260 GRCh38 Chromosome 5, 151822915: 151822915
34 GLRA1 NM_000171.3(GLRA1): c.299G> A (p.Arg100His) single nucleotide variant Uncertain significance rs281864914 GRCh37 Chromosome 5, 151239523: 151239523
35 GLRA1 NM_000171.3(GLRA1): c.299G> A (p.Arg100His) single nucleotide variant Uncertain significance rs281864914 GRCh38 Chromosome 5, 151859962: 151859962
36 GLRA1 NM_001146040.1(GLRA1): c.737G> A (p.Arg246Gln) single nucleotide variant Pathogenic rs281864916 GRCh37 Chromosome 5, 151231126: 151231126
37 GLRA1 NM_001146040.1(GLRA1): c.737G> A (p.Arg246Gln) single nucleotide variant Pathogenic rs281864916 GRCh38 Chromosome 5, 151851565: 151851565
38 GLRA1 NM_001146040.1(GLRA1): c.801G> C (p.Trp267Cys) single nucleotide variant Pathogenic rs281864917 GRCh37 Chromosome 5, 151231062: 151231062
39 GLRA1 NM_001146040.1(GLRA1): c.801G> C (p.Trp267Cys) single nucleotide variant Pathogenic rs281864917 GRCh38 Chromosome 5, 151851501: 151851501
40 GLRA1 NM_001146040.1(GLRA1): c.892T> A (p.Ser298Thr) single nucleotide variant Pathogenic rs281864920 GRCh37 Chromosome 5, 151230971: 151230971
41 GLRA1 NM_001146040.1(GLRA1): c.892T> A (p.Ser298Thr) single nucleotide variant Pathogenic rs281864920 GRCh38 Chromosome 5, 151851410: 151851410
42 GLRA1 NM_001146040.1(GLRA1): c.920A> C (p.Tyr307Ser) single nucleotide variant Pathogenic rs121918410 GRCh37 Chromosome 5, 151208621: 151208621
43 GLRA1 NM_001146040.1(GLRA1): c.920A> C (p.Tyr307Ser) single nucleotide variant Pathogenic rs121918410 GRCh38 Chromosome 5, 151829060: 151829060
44 GLRA1 NM_001146040.1(GLRA1): c.921delT (p.Tyr307Terfs) deletion Pathogenic rs281864921 GRCh37 Chromosome 5, 151208620: 151208620
45 GLRA1 NM_001146040.1(GLRA1): c.921delT (p.Tyr307Terfs) deletion Pathogenic rs281864921 GRCh38 Chromosome 5, 151829059: 151829059
46 GLRA1 NM_000171.3(GLRA1): c.1030C> T (p.Arg344Ter) single nucleotide variant Likely pathogenic rs281864913 GRCh37 Chromosome 5, 151208511: 151208511
47 GLRA1 NM_000171.3(GLRA1): c.1030C> T (p.Arg344Ter) single nucleotide variant Likely pathogenic rs281864913 GRCh38 Chromosome 5, 151828950: 151828950
48 GLRA1 NM_000171.3(GLRA1): c.1259G> A (p.Arg420His) single nucleotide variant Pathogenic rs281864919 GRCh37 Chromosome 5, 151202325: 151202325
49 GLRA1 NM_000171.3(GLRA1): c.1259G> A (p.Arg420His) single nucleotide variant Pathogenic rs281864919 GRCh38 Chromosome 5, 151822764: 151822764
50 GLRA1 NM_000171.3(GLRA1): c.(?_-287)_697+?del deletion Pathogenic GRCh38 Chromosome 5, 151855040: 151924836

Copy number variations for Hyperekplexia from CNVD:

7
# CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 194977 5 147200000 152100000 Deletion GLRA1 Hyperekplexia

Expression for Hyperekplexia

Search GEO for disease gene expression data for Hyperekplexia.

Pathways for Hyperekplexia

Pathways related to Hyperekplexia according to KEGG:

37
# Name Kegg Source Accession
1 Neuroactive ligand-receptor interaction hsa04080

Pathways related to Hyperekplexia according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.89 ARHGEF9 GABRG2 GLRA1 GLRB SLC6A2 SLC6A5
2
Show member pathways
12.05 ARHGEF9 GABRG2 GLRA1 GLRB
3 11.66 SLC6A2 SLC6A5 SLC6A9
4
Show member pathways
10.83 GPHN MOCS1
5
Show member pathways
10.55 ARHGEF9 GABRG2 GLRA1 GLRB
6 10.49 ADRA1B ADRA1D SLC6A2

GO Terms for Hyperekplexia

Cellular components related to Hyperekplexia according to GeneCards Suite gene sharing:

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 cell projection GO:0042995 9.97 GABRG2 GARS GLRA1 GLRB GPHN SCN9A
2 integral component of plasma membrane GO:0005887 9.91 ADRA1B ADRA1D GABRG2 GLRA1 GLRB SCN9A
3 cell junction GO:0030054 9.87 ARHGEF9 ATAD1 GABRG2 GLRA1 GLRB GPHN
4 synapse GO:0045202 9.85 ARHGEF9 ATAD1 GABRG2 GLRA1 GLRB GPHN
5 neuron projection GO:0043005 9.81 GABRG2 GLRA1 GLRB SLC6A2
6 GABA-ergic synapse GO:0098982 9.63 ARHGEF9 GABRG2 GLRB
7 integral component of presynaptic membrane GO:0099056 9.61 GLRA1 SLC6A5 SLC6A9
8 chloride channel complex GO:0034707 9.58 GABRG2 GLRA1 GLRB
9 glycinergic synapse GO:0098690 9.13 GLRA1 GLRB SLC6A5
10 postsynaptic membrane GO:0045211 9.1 ARHGEF9 ATAD1 GABRG2 GLRA1 GLRB GPHN
11 membrane GO:0016020 10.35 ADRA1B ADRA1D ARHGEF9 ATAD1 DPP6 GABRG2
12 plasma membrane GO:0005886 10.03 ADRA1B ADRA1D ARHGEF9 ATAD1 DPP6 GABRG2

Biological processes related to Hyperekplexia according to GeneCards Suite gene sharing:

(show all 18)
# Name GO ID Score Top Affiliating Genes
1 ion transmembrane transport GO:0034220 9.83 GABRG2 GLRA1 GLRB SCN9A
2 regulation of membrane potential GO:0042391 9.73 GABRG2 GLRA1 GLRB
3 chloride transmembrane transport GO:1902476 9.69 GABRG2 GLRA1 GLRB
4 chloride transport GO:0006821 9.67 GABRG2 GLRA1 GLRB
5 neuromuscular process GO:0050905 9.58 GLRA1 GLRB
6 adenylate cyclase-activating adrenergic receptor signaling pathway GO:0071880 9.57 ADRA1B ADRA1D
7 acrosome reaction GO:0007340 9.55 GLRA1 GLRB
8 startle response GO:0001964 9.54 GLRA1 GLRB
9 nervous system process GO:0050877 9.5 GABRG2 GLRA1 GLRB
10 adrenergic receptor signaling pathway GO:0071875 9.48 ADRA1B ADRA1D
11 glycine transport GO:0015816 9.46 SLC6A5 SLC6A9
12 righting reflex GO:0060013 9.43 GLRA1 GLRB
13 neurotransmitter transport GO:0006836 9.43 SLC6A2 SLC6A5 SLC6A9
14 molybdopterin cofactor biosynthetic process GO:0032324 9.4 GPHN MOCS1
15 Mo-molybdopterin cofactor biosynthetic process GO:0006777 9.37 GPHN MOCS1
16 chemical synaptic transmission GO:0007268 9.35 GABRG2 GLRA1 GLRB SLC6A2 SLC6A5
17 gamma-aminobutyric acid receptor clustering GO:0097112 9.16 GLRB GPHN
18 synaptic transmission, glycinergic GO:0060012 8.8 GLRA1 GLRB SLC6A5

Molecular functions related to Hyperekplexia according to GeneCards Suite gene sharing:

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 symporter activity GO:0015293 9.7 SLC6A2 SLC6A5 SLC6A9
2 ion channel activity GO:0005216 9.62 GABRG2 GLRA1 GLRB SCN9A
3 chloride channel activity GO:0005254 9.61 GABRG2 GLRA1 GLRB
4 extracellular ligand-gated ion channel activity GO:0005230 9.54 GABRG2 GLRA1 GLRB
5 adrenergic receptor activity GO:0004935 9.51 ADRA1B ADRA1D
6 glycine binding GO:0016594 9.49 GLRA1 GLRB
7 neurotransmitter:sodium symporter activity GO:0005328 9.48 SLC6A2 SLC6A9
8 glycine transmembrane transporter activity GO:0015187 9.46 SLC6A5 SLC6A9
9 extracellularly glycine-gated chloride channel activity GO:0016934 9.4 GLRA1 GLRB
10 transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential GO:1904315 9.33 GABRG2 GLRA1 GLRB
11 alpha1-adrenergic receptor activity GO:0004937 9.26 ADRA1B ADRA1D
12 extracellularly glycine-gated ion channel activity GO:0016933 8.96 GLRA1 GLRB
13 glycine:sodium symporter activity GO:0015375 8.62 SLC6A5 SLC6A9

Sources for Hyperekplexia

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
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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