MCID: HYP097
MIFTS: 56

Hyperekplexia

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

Aliases & Classifications for Hyperekplexia

MalaCards integrated aliases for Hyperekplexia:

Name: Hyperekplexia 12 77 25 26 60 38 30 56 6 15
Hereditary Hyperekplexia 12 54 26 60
Kok Disease 12 54 60
Congenital Stiff Man Syndrome 12 60
Startle Disease, Familial 25 54
Hyperekplexia, Hereditary 25 41
Familial Startle Disease 12 60
Hereditary Hyperexplexia 60 74
Hyperekplexia Hereditary 30 6
Stiff-Baby Syndrome 54 26
Startle Syndrome 25 26
Sthe 54 26
Stiff-Person Syndrome, Congenital 54
Congenital Stiff-Person Syndrome 26
Stiff-Man Syndrome, Congenital 54
Startle Reaction, Exaggerated 54
Congenital Stiff-Man Syndrome 26
Exaggerated Startle Reaction 54
Hyperexplexia Hereditary 54
Familial Hyperekplexia 26
Stiff-Person Syndrome 74
Stiff Baby Syndrome 60
Startle Disease 12

Characteristics:

Orphanet epidemiological data:

60
hereditary hyperekplexia
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

GeneReviews:

25
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 : 54 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 molybdenum cofactor deficiency and stiff-person syndrome, 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 ataxia and spasticity

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 : 26 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 : 77 Hyperekplexia ("exaggerated surprise") is a neurologic disorder classically characterised by pronounced... more...

GeneReviews: NBK1260

Related Diseases for Hyperekplexia

Graphical network of the top 20 diseases related to Hyperekplexia:



Diseases related to Hyperekplexia

Symptoms & Phenotypes for Hyperekplexia

Human phenotypes related to Hyperekplexia:

60 33 (show all 21)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ataxia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001251
2 spasticity 60 33 hallmark (90%) Very frequent (99-80%) HP:0001257
3 hyperreflexia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001347
4 joint stiffness 60 33 hallmark (90%) Very frequent (99-80%) HP:0001387
5 gastroesophageal reflux 60 33 hallmark (90%) Very frequent (99-80%) HP:0002020
6 myoclonus 60 33 hallmark (90%) Very frequent (99-80%) HP:0001336
7 muscle stiffness 60 33 hallmark (90%) Very frequent (99-80%) HP:0003552
8 rigidity 60 33 hallmark (90%) Very frequent (99-80%) HP:0002063
9 esophagitis 60 33 hallmark (90%) Very frequent (99-80%) HP:0100633
10 fasciculations 60 33 hallmark (90%) Very frequent (99-80%) HP:0002380
11 hiatus hernia 60 33 hallmark (90%) Very frequent (99-80%) HP:0002036
12 gait disturbance 60 33 frequent (33%) Frequent (79-30%) HP:0001288
13 sleep disturbance 60 33 frequent (33%) Frequent (79-30%) HP:0002360
14 umbilical hernia 60 33 frequent (33%) Frequent (79-30%) HP:0001537
15 intellectual disability 60 33 occasional (7.5%) Occasional (29-5%) HP:0001249
16 seizures 60 33 occasional (7.5%) Occasional (29-5%) HP:0001250
17 hip dislocation 60 33 occasional (7.5%) Occasional (29-5%) HP:0002827
18 joint dislocation 60 Occasional (29-5%)
19 hypertonia 60 Very frequent (99-80%)
20 abnormality of movement 60 Very frequent (99-80%)
21 hernia 60 Frequent (79-30%)

UMLS symptoms related to Hyperekplexia:


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

MGI Mouse Phenotypes related to Hyperekplexia:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.1 ARHGEF9 ATAD1 GABRG2 GARS GLRA1 GLRA2
2 mortality/aging MP:0010768 9.97 ATAD1 GABRG2 GARS GLRA1 GLRA2 GLRB
3 muscle MP:0005369 9.5 GARS GLRA1 GLRB SLC6A5 SLC6A9 SLC7A10
4 nervous system MP:0003631 9.5 ARHGEF9 ATAD1 DPP6 GABRG2 GARS GLRA1

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 30
2 Hyperekplexia Hereditary 30 GLRA1 GPHN

Anatomical Context for Hyperekplexia

MalaCards organs/tissues related to Hyperekplexia:

42
Brain, Testes, Heart, Eye, Cortex

Publications for Hyperekplexia

Articles related to Hyperekplexia:

(show top 50) (show all 190)
# Title Authors Year
1
Hyperekplexia-associated mutations in the neuronal glycine transporter 2. ( 29859229 )
2019
2
Teaching Video NeuroImages: Cautious walking gait in siblings with hereditary hyperekplexia. ( 31010918 )
2019
3
Neonatal tremor episodes and hyperekplexia-like presentation at onset in a child with SCN8A developmental and epileptic encephalopathy. ( 30078772 )
2018
4
Mutations affecting glycinergic neurotransmission in hyperekplexia increase pain sensitivity. ( 29149236 )
2018
5
A Missense Mutation A384P Associated with Human Hyperekplexia Reveals a Desensitization Site of Glycine Receptors. ( 29440552 )
2018
6
Weird Laughing in Hyperekplexia: A new phenotype associated with a novel mutation in the GLRA1 gene? ( 29602144 )
2018
7
Nose-tapping Test in Hyperekplexia. ( 29845961 )
2018
8
Expanding the phenotype of TRAK1 mutations: hyperekplexia and refractory status epilepticus. ( 29846532 )
2018
9
A child with hyperekplexia and epileptic myoclonus. ( 30078784 )
2018
10
GLRA1 mutation and long-term follow-up of the first hyperekplexia family. ( 30109271 )
2018
11
A novel nonsense autosomal dominant mutation in the GLRA1 gene causing hyperekplexia. ( 30182260 )
2018
12
Sporadic hyperekplexia due to self-limiting brainstem encephalopathy. ( 29062233 )
2017
13
Hyperekplexia: Report on phenotype and genotype of 16 Jordanian patients. ( 27843043 )
2017
14
Familiar Hyperekplexia, a Potential Cause of Cautious Gait: A New Korean Case and a Systematic Review of Phenotypes. ( 28122427 )
2017
15
Teaching Video NeuroImages: Hyperekplexia: A syndrome of pathologic startle responses. ( 28348128 )
2017
16
Sporadic Hyperekplexia Plus Syndrome. ( 28553377 )
2017
17
Clinical and Electrophysiological Findings in Two Siblings with Familial Hyperekplexia. ( 28566967 )
2017
18
Hyperekplexia: A forgotten diagnosis clinched by next-generation sequencing. ( 28879899 )
2017
19
A novel compound mutation in GLRA1 cause hyperekplexia in a Chinese boy- a case report and review of the literature. ( 28985719 )
2017
20
A de novo CTNNB1 nonsense mutation associated with syndromic atypical hyperekplexia, microcephaly and intellectual disability: a case report. ( 26968164 )
2016
21
Investigating the Mechanism by Which Gain-of-function Mutations to the α1 Glycine Receptor Cause Hyperekplexia. ( 27226610 )
2016
22
Hyperekplexia, microcephaly and simplified gyral pattern caused by novel ASNS mutations, case report. ( 27422383 )
2016
23
Hyperekplexia as the presenting symptom of Creutzfeldt-Jakob disease. ( 29595818 )
2015
24
Clinical and genetic investigation of 17 Japanese patients with hyperekplexia. ( 25356525 )
2015
25
Hyperekplexia: overexcitable and underdiagnosed. ( 25407752 )
2015
26
Molecular basis of the dominant negative effect of a glycine transporter 2 mutation associated with hyperekplexia. ( 25480793 )
2015
27
Disturbed neuronal ER-Golgi sorting of unassembled glycine receptors suggests altered subcellular processing is a cause of human hyperekplexia. ( 25568133 )
2015
28
Anesthetic management of a parturient with hyperekplexia. ( 25867194 )
2015
29
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
30
Clobazam-clonazepam combination effective for stimulus-induced falling in hyperekplexia. ( 24453146 )
2015
31
Ethnicity can predict GLRA1 genotypes in hyperekplexia. ( 24970905 )
2015
32
Hyperekplexia: a Chinese adolescent with 2 novel mutations of the GLRA1 gene. ( 23143726 )
2014
33
Sporadic hyperekplexia presenting with an ataxic gait. ( 24054400 )
2014
34
Presynaptic glycine receptors as a potential therapeutic target for hyperekplexia disease. ( 24390226 )
2014
35
The impact of human hyperekplexia mutations on glycine receptor structure and function. ( 24405574 )
2014
36
Infantile spasms and hyperekplexia associated with isolated sulfite oxidase deficiency. ( 24756183 )
2014
37
A confusing coincidence: neonatal hypoglycemic seizures and hyperekplexia. ( 24782896 )
2014
38
Identification of a novel missense GLRA1 gene mutation in hyperekplexia: a case report. ( 24969041 )
2014
39
Neonatal hyperekplexia with homozygous p.R392H mutation in GLRA1. ( 25036534 )
2014
40
Novel mutations in the glycine receptor alpha subunit gene in two sisters with hyperekplexia. ( 25079583 )
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
A 14-year-old girl with hyperekplexia having GLRB mutations. ( 23182654 )
2013
44
GLRB is the third major gene of effect in hyperekplexia. ( 23184146 )
2013
45
Glycine receptor mouse mutants: model systems for human hyperekplexia. ( 23941355 )
2013
46
Genotype-phenotype correlations in hyperekplexia: apnoeas, learning difficulties and speech delay. ( 24030948 )
2013
47
Analysis of hyperekplexia mutations identifies transmembrane domain rearrangements that mediate glycine receptor activation. ( 24097980 )
2013
48
New hyperekplexia mutations provide insight into glycine receptor assembly, trafficking, and activation mechanisms. ( 24108130 )
2013
49
The GLRA1 missense mutation W170S associates lack of Zn2+ potentiation with human hyperekplexia. ( 24198360 )
2013
50
Novel mutation in GLRB in a large family with hereditary hyperekplexia. ( 21391991 )
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_001146040.1(GLRA1): c.884G> A (p.Ser295Asn) single nucleotide variant Pathogenic rs267606848 GRCh37 Chromosome 5, 151230979: 151230979
4 GLRA1 NM_000171.3(GLRA1): c.896G> T (p.Arg299Leu) single nucleotide variant Likely pathogenic rs121918408 GRCh37 Chromosome 5, 151230967: 151230967
5 GLRA1 NM_000171.3(GLRA1): c.896G> T (p.Arg299Leu) single nucleotide variant Likely pathogenic rs121918408 GRCh38 Chromosome 5, 151851406: 151851406
6 GLRA1 NM_001146040.1(GLRA1): c.896G> A (p.Arg299Gln) single nucleotide variant Pathogenic rs121918408 GRCh37 Chromosome 5, 151230967: 151230967
7 GLRA1 NM_001146040.1(GLRA1): c.896G> A (p.Arg299Gln) single nucleotide variant Pathogenic rs121918408 GRCh38 Chromosome 5, 151851406: 151851406
8 GLRA1 NM_001146040.1(GLRA1): c.815T> A (p.Ile272Asn) single nucleotide variant Pathogenic rs121918409 GRCh37 Chromosome 5, 151231048: 151231048
9 GLRA1 NM_001146040.1(GLRA1): c.815T> A (p.Ile272Asn) single nucleotide variant Pathogenic rs121918409 GRCh38 Chromosome 5, 151851487: 151851487
10 GLRA1 NM_000171.3(GLRA1): c.920A> G (p.Tyr307Cys) single nucleotide variant Pathogenic rs121918410 GRCh37 Chromosome 5, 151208621: 151208621
11 GLRA1 NM_000171.3(GLRA1): c.920A> G (p.Tyr307Cys) single nucleotide variant Pathogenic rs121918410 GRCh38 Chromosome 5, 151829060: 151829060
12 GLRA1 NM_001146040.1(GLRA1): c.882G> C (p.Gln294His) single nucleotide variant Pathogenic rs121918411 GRCh37 Chromosome 5, 151230981: 151230981
13 GLRA1 NM_001146040.1(GLRA1): c.882G> C (p.Gln294His) single nucleotide variant Pathogenic rs121918411 GRCh38 Chromosome 5, 151851420: 151851420
14 GLRA1 NM_001146040.1(GLRA1): c.910A> G (p.Lys304Glu) single nucleotide variant Pathogenic rs121918412 GRCh37 Chromosome 5, 151230953: 151230953
15 GLRA1 NM_001146040.1(GLRA1): c.910A> G (p.Lys304Glu) single nucleotide variant Pathogenic rs121918412 GRCh38 Chromosome 5, 151851392: 151851392
16 GLRA1 NM_001146040.1(GLRA1): c.832C> A (p.Pro278Thr) single nucleotide variant Pathogenic rs121918413 GRCh37 Chromosome 5, 151231031: 151231031
17 GLRA1 NM_001146040.1(GLRA1): c.832C> A (p.Pro278Thr) single nucleotide variant Pathogenic rs121918413 GRCh38 Chromosome 5, 151851470: 151851470
18 GLRA1 NM_000171.3(GLRA1): c.298delC (p.Arg100Alafs) deletion Pathogenic rs281864915 GRCh37 Chromosome 5, 151239524: 151239524
19 GLRA1 NM_000171.3(GLRA1): c.298delC (p.Arg100Alafs) deletion Pathogenic rs281864915 GRCh38 Chromosome 5, 151859963: 151859963
20 GLRA1 NM_000171.3(GLRA1): c.523A> G (p.Met175Val) single nucleotide variant Pathogenic rs121918414 GRCh37 Chromosome 5, 151235898: 151235898
21 GLRA1 NM_000171.3(GLRA1): c.523A> G (p.Met175Val) single nucleotide variant Pathogenic rs121918414 GRCh38 Chromosome 5, 151856337: 151856337
22 GLRA1 NM_001146040.1(GLRA1): c.690C> A (p.Tyr230Ter) single nucleotide variant Pathogenic rs121918415 GRCh37 Chromosome 5, 151234608: 151234608
23 GLRA1 NM_001146040.1(GLRA1): c.690C> A (p.Tyr230Ter) single nucleotide variant Pathogenic rs121918415 GRCh38 Chromosome 5, 151855047: 151855047
24 GLRA1 NM_001146040.1(GLRA1): c.862G> A (p.Val288Met) single nucleotide variant Pathogenic rs121918416 GRCh37 Chromosome 5, 151231001: 151231001
25 GLRA1 NM_001146040.1(GLRA1): c.862G> A (p.Val288Met) single nucleotide variant Pathogenic rs121918416 GRCh38 Chromosome 5, 151851440: 151851440
26 GLRA1 NM_001146040.1(GLRA1): c.777C> G (p.Ser259Arg) single nucleotide variant Pathogenic rs121918417 GRCh37 Chromosome 5, 151231086: 151231086
27 GLRA1 NM_001146040.1(GLRA1): c.777C> G (p.Ser259Arg) single nucleotide variant Pathogenic rs121918417 GRCh38 Chromosome 5, 151851525: 151851525
28 GLRA1 NM_001146040.1(GLRA1): c.(?_-287)_(912+?)del deletion Pathogenic
29 GLRA1 NM_000171.3(GLRA1): c.971C> A (p.Ser324Ter) single nucleotide variant Pathogenic rs121918418 GRCh37 Chromosome 5, 151208570: 151208570
30 GLRA1 NM_000171.3(GLRA1): c.971C> A (p.Ser324Ter) single nucleotide variant Pathogenic rs121918418 GRCh38 Chromosome 5, 151829009: 151829009
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_000171.3(GLRA1): c.921delT (p.Tyr307Terfs) deletion Pathogenic rs281864921 GRCh37 Chromosome 5, 151208620: 151208620
45 GLRA1 NM_000171.3(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:

38
# 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
12.83 ARHGEF9 GABRG2 GLRA1 GLRA2 GLRA3 GLRA4
2
Show member pathways
12.68 GLRA1 GLRA2 GLRA3 GLRA4 GLRB
3
Show member pathways
12.2 ARHGEF9 GABRG2 GLRA1 GLRA2 GLRA3 GLRA4
4 11.59 SLC6A2 SLC6A5 SLC6A9
5
Show member pathways
10.79 ARHGEF9 GABRG2 GLRA1 GLRA2 GLRA3 GLRA4
6
Show member pathways
10.78 GPHN MOCS1

GO Terms for Hyperekplexia

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

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 cell junction GO:0030054 9.97 ARHGEF9 ATAD1 GABRG2 GLRA1 GLRA2 GLRA3
2 dendrite GO:0030425 9.95 GABRG2 GLRA1 GLRA3 GLRA4 GLRB GPHN
3 neuron projection GO:0043005 9.91 GABRG2 GLRA1 GLRA2 GLRA3 GLRA4 GLRB
4 synapse GO:0045202 9.91 ARHGEF9 ATAD1 GABRG2 GLRA1 GLRA2 GLRA3
5 perikaryon GO:0043204 9.71 GLRA1 GLRA3 GLRA4
6 GABA-ergic synapse GO:0098982 9.7 ARHGEF9 GABRG2 GLRB
7 integral component of presynaptic membrane GO:0099056 9.69 GLRA1 SLC6A5 SLC6A9
8 chloride channel complex GO:0034707 9.63 GABRG2 GLRA1 GLRA2 GLRA3 GLRA4 GLRB
9 postsynaptic membrane GO:0045211 9.61 ARHGEF9 ATAD1 GABRG2 GLRA1 GLRA2 GLRA3
10 integral component of postsynaptic specialization membrane GO:0099060 9.55 GLRA1 GLRA4
11 glycine-gated chloride channel complex GO:0016935 9.48 GLRA3 GLRB
12 glycinergic synapse GO:0098690 9.02 GLRA1 GLRA2 GLRA4 GLRB SLC6A5
13 plasma membrane GO:0005886 10.34 ARHGEF9 ATAD1 DPP6 GABRG2 GLRA1 GLRA2
14 integral component of plasma membrane GO:0005887 10.11 GABRG2 GLRA1 GLRA2 GLRA3 GLRA4 GLRB
15 cell projection GO:0042995 10.03 GABRG2 GARS GLRA1 GLRA2 GLRA3 GLRA4

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

(show all 23)
# Name GO ID Score Top Affiliating Genes
1 ion transmembrane transport GO:0034220 9.95 GABRG2 GLRA1 GLRA2 GLRA3 GLRA4 GLRB
2 regulation of membrane potential GO:0042391 9.88 GABRG2 GLRA1 GLRA2 GLRA3 GLRA4 GLRB
3 neuropeptide signaling pathway GO:0007218 9.85 GLRA1 GLRA2 GLRA3 GLRA4 GLRB
4 excitatory postsynaptic potential GO:0060079 9.83 GLRA1 GLRA2 GLRA3 GLRA4 GLRB
5 chloride transmembrane transport GO:1902476 9.8 GABRG2 GLRA1 GLRA2 GLRA3 GLRA4 GLRB
6 response to amino acid GO:0043200 9.77 GLRA1 GLRA2 GLRA3 GLRA4 GLRB
7 chemical synaptic transmission GO:0007268 9.76 GABRG2 GLRA1 GLRA2 GLRA3 GLRA4 GLRB
8 chloride transport GO:0006821 9.73 GABRG2 GLRA1 GLRA2 GLRA3 GLRA4 GLRB
9 neurotransmitter transport GO:0006836 9.69 SLC6A2 SLC6A5 SLC6A9
10 adult walking behavior GO:0007628 9.61 GLRA1 GLRB
11 neuromuscular process GO:0050905 9.61 GLRA1 GLRB
12 cellular response to zinc ion GO:0071294 9.6 GLRA1 GLRA2
13 acrosome reaction GO:0007340 9.59 GLRA1 GLRB
14 startle response GO:0001964 9.58 GLRA1 GLRB
15 cellular response to ethanol GO:0071361 9.58 GLRA1 GLRA2
16 glycine transport GO:0015816 9.57 SLC6A5 SLC6A9
17 righting reflex GO:0060013 9.56 GLRA1 GLRB
18 molybdopterin cofactor biosynthetic process GO:0032324 9.55 GPHN MOCS1
19 Mo-molybdopterin cofactor biosynthetic process GO:0006777 9.54 GPHN MOCS1
20 gamma-aminobutyric acid receptor clustering GO:0097112 9.49 GLRB GPHN
21 nervous system process GO:0050877 9.43 GABRG2 GLRA1 GLRA2 GLRA3 GLRA4 GLRB
22 synaptic transmission, glycinergic GO:0060012 9.1 GLRA1 GLRA2 GLRA3 GLRA4 GLRB SLC6A5
23 ion transport GO:0006811 10 GABRG2 GLRA1 GLRA2 GLRA3 GLRA4 GLRB

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

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 ion channel activity GO:0005216 9.85 GABRG2 GLRA1 GLRA2 GLRA3 GLRA4 GLRB
2 transmembrane signaling receptor activity GO:0004888 9.83 GLRA1 GLRA2 GLRA3 GLRA4 GLRB
3 chloride channel activity GO:0005254 9.8 GABRG2 GLRA1 GLRA2 GLRA3 GLRA4 GLRB
4 symporter activity GO:0015293 9.71 SLC6A2 SLC6A5 SLC6A9
5 transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential GO:1904315 9.71 GABRG2 GLRA1 GLRA2 GLRB
6 extracellular ligand-gated ion channel activity GO:0005230 9.63 GABRG2 GLRA1 GLRA2 GLRA3 GLRA4 GLRB
7 transmitter-gated ion channel activity GO:0022824 9.56 GLRA1 GLRA2 GLRA3 GLRA4
8 neurotransmitter:sodium symporter activity GO:0005328 9.52 SLC6A2 SLC6A9
9 glycine transmembrane transporter activity GO:0015187 9.51 SLC6A5 SLC6A9
10 extracellularly glycine-gated ion channel activity GO:0016933 9.49 GLRA1 GLRB
11 glycine:sodium symporter activity GO:0015375 9.48 SLC6A5 SLC6A9
12 glycine-gated chloride ion channel activity GO:0022852 9.46 GLRA2 GLRA3
13 glycine binding GO:0016594 9.35 GLRA1 GLRA2 GLRA3 GLRA4 GLRB
14 extracellularly glycine-gated chloride channel activity GO:0016934 9.02 GLRA1 GLRA2 GLRA3 GLRA4 GLRB

Sources for Hyperekplexia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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