MCID: HYP097
MIFTS: 57

Hyperekplexia malady

Genetic diseases, Rare diseases, Neuronal diseases, Metabolic diseases categories

Summaries for Hyperekplexia

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NIH Rare Diseases:41 Hereditary hyperekplexia is an inherited condition that is usually evident in infants. symptoms include 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 can be fatal. this may explain some cases of sudden infant death syndrome (sids). symptoms typically fade by age 1. however, older individuals with this condition may still startle easily and have periods of rigidity. others may have a low tolerance for crowded places and loud noises. this condition has different inheritance patterns and is associated with mutations in at least five genes. last updated: 11/30/2011

MalaCards based summary: Hyperekplexia, also known as hereditary hyperekplexia, is related to molybdenum cofactor deficiency and sporadic hyperekplexia, and has symptoms including hypertonia, hyperreflexia and limitation of joint mobility. An important gene associated with Hyperekplexia is GLRA1 (glycine receptor, alpha 1), and among its related pathways are Defective BTD causes biotidinase deficiency and GABA receptor activation. The compounds moco and molybdopterin have been mentioned in the context of this disorder. Affiliated tissues include bone, brain and eye, and related mouse phenotypes are muscle and vision/eye.

Genetics Home Reference:21 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. This condition may explain some cases of sudden infant death syndrome (SIDS), which is a major cause of unexplained death in babies younger than 1 year. Infants with hereditary hyperekplexia have hypertonia at all times, except when they are sleeping.

Wikipedia:63 Hyperekplexia (\"exaggerated surprise\") is a neurologic disorder classically characterised by... more...

GeneReviews summary for hyperek

Aliases & Classifications for Hyperekplexia

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Sources:
19GeneReviews, 41NIH Rare Diseases, 20GeneTests, 21Genetics Home Reference, 43Novoseek, 47Orphanet, 22GTR, 60UMLS, 26ICD10 via Orphanet
See all sources

Hyperekplexia, Aliases & Descriptions:

Name: Hyperekplexia 19 20 21 43 47 22
Hereditary Hyperekplexia 41 21 47 22
Startle Disease, Familial 19 41
Hereditary Hyperexplexia 47 60
Stiff-Baby Syndrome 41 21
Startle Syndrome 19 21
Kok Disease 41 47
Sthe 41 21
Stiff-Person Syndrome, Congenital 41
Congenital Stiff-Person Syndrome 21
Stiff-Man Syndrome, Congenital 41
 
Congenital Stiff-Man Syndrome 21
Startle Reaction, Exaggerated 41
Congenital Stiff Man Syndrome 47
Exaggerated Startle Reaction 41
Hyperekplexia, Hereditary 19
Hyperexplexia Hereditary 41
Familial Startle Disease 47
Familial Hyperekplexia 21
Stiff-Person Syndrome 60
Stiff Baby Syndrome 47


Classifications:



Characteristics (Orphanet epidemiological data):

47
hyperekplexia:
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal


External Ids:

Orphanet47 3197
ICD10 via Orphanet26 G25.8

Related Diseases for Hyperekplexia

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Graphical network of the top 20 diseases related to Hyperekplexia:



Diseases related to hyperekplexia

Symptoms for Hyperekplexia

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Symptoms:

 47 (show all 18)
  • gastroesophageal reflux/pyrosis/esophagitis/hiatal hernia/gastroparesia
  • ataxia/incoordination/trouble of the equilibrium
  • movement disorder
  • myoclonus/fasciculations
  • hypertonia/spasticity/rigidity/stiffness
  • hypereflexia
  • restricted joint mobility/joint stiffness/ankylosis
  • autosomal dominant inheritance
  • autosomal recessive inheritance
  • inguinal/inguinoscrotal/crural hernia
  • umbilical hernia
  • abnormal gait
  • sleep and vigilance disorders
  • death in infancy
  • seizures/epilepsy/absences/spasms/status epilepticus
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • joint dislocation/subluxation
  • hip dislocation/dysplasia/coxa valga/coxa vara/coxa plana

HPO human phenotypes related to Hyperekplexia:

(show all 12)
id Description Frequency HPO Source Accession
1 hypertonia hallmark (90%) HP:0001276
2 hyperreflexia hallmark (90%) HP:0001347
3 limitation of joint mobility hallmark (90%) HP:0001376
4 incoordination hallmark (90%) HP:0002311
5 involuntary movements hallmark (90%) HP:0004305
6 gait disturbance typical (50%) HP:0001288
7 umbilical hernia typical (50%) HP:0001537
8 sleep disturbance typical (50%) HP:0002360
9 seizures occasional (7.5%) HP:0001250
10 joint dislocation occasional (7.5%) HP:0001373
11 abnormality of the hip bone occasional (7.5%) HP:0003272
12 cognitive impairment occasional (7.5%) HP:0100543

Drugs & Therapeutics for Hyperekplexia

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Drug clinical trials:

Search ClinicalTrials for Hyperekplexia

Search NIH Clinical Center for Hyperekplexia

Genetic Tests for Hyperekplexia

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Genetic tests related to Hyperekplexia:

id Genetic test Affiliating Genes
1 Hyperekplexia Multi-Gene Panels20
2 Hyperekplexia20 22 SLC6A5
3 Hyperekplexia Hereditary22

Anatomical Context for Hyperekplexia

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MalaCards organs/tissues related to Hyperekplexia:

31
Bone, Brain, Eye, Cortex, Heart

Animal Models for Hyperekplexia or affiliated genes

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MGI Mouse Phenotypes related to Hyperekplexia:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053699.1SLC6A5, GARS, GLRA1, GLRB
2MP:00053918.2GPHN, GLRA3, GLRA1, GLRA2
3MP:00053787.0MOCS1, GLRB, GLRA1, GLRA2, GABRG2, GARS
4MP:00107686.8GPHN, MOCS1, GLRB, GLRA1, GLRA2, GABRG2
5MP:00053866.5ARHGEF9, GPHN, GLRA3, GLRB, GLRA1, GLRA2
6MP:00036316.5GPHN, GLRA3, GLRB, GLRA1, GLRA2, GABRG2

Publications for Hyperekplexia

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Articles related to Hyperekplexia:

(show top 50)    (show all 162)
idTitleAuthorsYear
1
Anesthetic management of a parturient with hyperekplexia. (25867194)
2015
2
Molecular basis of the dominant negative effect of a glycine transporter 2 mutation associated with hyperekplexia. (25480793)
2015
3
Disturbed neuronal ER-Golgi sorting of unassembled glycine receptors suggests altered subcellular processing is a cause of human hyperekplexia. (25568133)
2015
4
The impact of human hyperekplexia mutations on glycine receptor structure and function. (24405574)
2014
5
Sporadic hyperekplexia presenting with an ataxic gait. (24054400)
2014
6
A 14-year-old girl with hyperekplexia having GLRB mutations. (23182654)
2013
7
The GLRA1 missense mutation W170S associates lack of Zn2+ potentiation with human hyperekplexia. (24198360)
2013
8
Novel mutation of GLRA1 in Omani families with hyperekplexia and mild mental retardation. (22264702)
2012
9
Hyperekplexia: treatment of a severe phenotype and review of the literature. (21515498)
2011
10
I^ Subunit M2-M3 loop conformational changes are uncoupled from I+1 I^ glycine receptor channel gating: implications for human hereditary hyperekplexia. (22132222)
2011
11
Hyperekplexia masquerading as epilepsy. (21222052)
2011
12
Sinus node paucity in hyperekplexia. (21220806)
2010
13
Recessive hyperekplexia mutations of the glycine receptor alpha1 subunit affect cell surface integration and stability. (19732286)
2009
14
Identification of a de novo Lys304Gln mutation in the glycine receptor alpha-1 subunit gene in a Korean infant with hyperekplexia. (18175347)
2008
15
Bilateral inguinal hernia repair in a child with hyperekplexia. (17897277)
2007
16
Clinical and inheritance profiles of hyperekplexia in Jordan. (17715287)
2007
17
A novel GLRA1 mutation in a recessive hyperekplexia pedigree. (17534957)
2007
18
Two Japanese families with hyperekplexia who have a Arg271Gln mutation in the glycine receptor alpha 1 subunit gene. (16478653)
2006
19
Molybdenum cofactor deficiency presenting as neonatal hyperekplexia: a clinical, biochemical and genetic study. (16429380)
2005
20
Familial hyperekplexia and refractory status epilepticus: a new autosomal recessive syndrome. (15526957)
2004
21
Late onset hyperekplexia. (15504715)
2004
22
Frontal lobe dysfunction in sporadic hyperekplexia--case study and literature review. (14999495)
2004
23
Two novel mutations of the glycine receptor gene in a Taiwanese hyperekplexia family. (15365143)
2004
24
Magnetic resonance spectroscopy of cerebral cortex is normal in hereditary hyperekplexia due to mutations in the GLRA1 gene. (14673895)
2003
25
Hyperekplexia (startle disease): a novel mutation (S270T) in the M2 domain of the GLRA1 gene and a molecular review of the disorder. (14580232)
2003
26
A novel recessive hyperekplexia allele GLRA1 (S231R): genotyping by MALDI-TOF mass spectrometry and functional characterisation as a determinant of cellular glycine receptor trafficking. (11973623)
2002
27
Hyperekplexia mutation of glycine receptors: decreased gating efficacy with altered binding thermodynamics. (12123749)
2002
28
Hyperekplexia associated with compound heterozygote mutations in the beta-subunit of the human inhibitory glycine receptor (GLRB). (11929858)
2002
29
Statistical coassembly of glycine receptor alpha1 wildtype and the hyperekplexia mutant alpha1(P250T) in HEK 293 cells: impaired channel function is not dominant in the recombinant system. (12359314)
2002
30
Compound heterozygosity and nonsense mutations in the alpha(1)-subunit of the inhibitory glycine receptor in hyperekplexia. (11702206)
2001
31
Opposing effects of molecular volume and charge at the hyperekplexia site alpha 1(P250) govern glycine receptor activation and desensitization. (11395484)
2001
32
Patients with the major and minor form of hyperekplexia differ with regards to disynaptic reciprocal inhibition between ankle flexor and extensor muscles. (11521151)
2001
33
Hyperekplexia in neonates. (11524514)
2001
34
Novel GLRA1 missense mutation (P250T) in dominant hyperekplexia defines an intracellular determinant of glycine receptor channel gating. (9920650)
1999
35
Hyperekplexia phenotype due to compound heterozygosity for GLRA1 gene mutations. (10514101)
1999
36
Hyperekplexia in a patient with a brainstem vascular anomaly. (10225359)
1999
37
Hyperekplexia: a rare differential of neonatal fits described in a developing country. (10716028)
1999
38
The effects of clonazepam and vigabatrin in hyperekplexia. (9168167)
1997
39
A novel mutation (Gln266-->His) in the alpha 1 subunit of the inhibitory glycine-receptor gene (GLRA1) in hereditary hyperekplexia. (8571969)
1996
40
Analysis of GLRA1 in hereditary and sporadic hyperekplexia: a novel mutation in a family cosegregating for hyperekplexia and spastic paraparesis. (8733061)
1996
41
The startle pattern in the minor form of hyperekplexia. (8929168)
1996
42
A GLRA1 null mutation in recessive hyperekplexia challenges the functional role of glycine receptors. (8651283)
1996
43
Mutational analysis of familial and sporadic hyperekplexia. (7611730)
1995
44
Somatosensory evoked potentials and hyperekplexia outcome. (7746224)
1995
45
Complete heart block in nonfamilial hyperekplexia. (7779213)
1995
46
Hyperekplexia as cause of abnormal intrauterine movements. (7853985)
1995
47
Startle disease or hyperekplexia. (8224555)
1993
48
Genetic and radiation hybrid mapping of the hyperekplexia region on chromosome 5q. (1334371)
1992
49
Startle disorders of man: hyperekplexia, jumping and startle epilepsy. (3064625)
1988
50
Startle disease or hyperekplexia: further delineation of the syndrome. (6777025)
1980

Variations for Hyperekplexia

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Clinvar genetic disease variations for Hyperekplexia:

6 (show all 40)
id Gene Variation Type Significance SNP ID Assembly Location
1GLRBNM_000824.4(GLRB): c.752G> A (p.Gly251Asp)single nucleotide variantPathogenicrs121909749GRCh37Chr 4, 158064959: 158064959
2GLRBNM_000824.4(GLRB): c.610+5G> Asingle nucleotide variantPathogenicrs281864922GRCh37Chr 4, 158058043: 158058043
3GLRA1NM_001146040.1(GLRA1): c.896G> T (p.Arg299Leu)single nucleotide variantPathogenicrs121918408GRCh37Chr 5, 151230967: 151230967
4GLRA1NM_001146040.1(GLRA1): c.896G> A (p.Arg299Gln)single nucleotide variantPathogenicrs121918408GRCh37Chr 5, 151230967: 151230967
5GLRA1NM_001146040.1(GLRA1): c.815T> A (p.Ile272Asn)single nucleotide variantPathogenicrs121918409GRCh37Chr 5, 151231048: 151231048
6GLRA1NM_001146040.1(GLRA1): c.920A> G (p.Tyr307Cys)single nucleotide variantPathogenicrs121918410GRCh37Chr 5, 151208621: 151208621
7GLRA1NM_001146040.1(GLRA1): c.882G> C (p.Gln294His)single nucleotide variantPathogenicrs121918411GRCh37Chr 5, 151230981: 151230981
8GLRA1NM_001146040.1(GLRA1): c.910A> G (p.Lys304Glu)single nucleotide variantPathogenicrs121918412GRCh37Chr 5, 151230953: 151230953
9GLRA1NM_001146040.1(GLRA1): c.832C> A (p.Pro278Thr)single nucleotide variantPathogenicrs121918413GRCh37Chr 5, 151231031: 151231031
10GLRA1NM_001146040.1(GLRA1): c.298delC (p.Arg100Alafs)deletionPathogenicrs281864915GRCh37Chr 5, 151239524: 151239524
11GLRA1NM_001146040.1(GLRA1): c.523A> G (p.Met175Val)single nucleotide variantPathogenicrs121918414GRCh37Chr 5, 151235898: 151235898
12GLRA1NM_001146040.1(GLRA1): c.690C> A (p.Tyr230Ter)single nucleotide variantPathogenicrs121918415GRCh37Chr 5, 151234608: 151234608
13GLRA1NM_001146040.1(GLRA1): c.862G> A (p.Val288Met)single nucleotide variantPathogenicrs121918416GRCh37Chr 5, 151231001: 151231001
14GLRA1NM_001146040.1(GLRA1): c.777C> G (p.Ser259Arg)single nucleotide variantPathogenicrs121918417GRCh37Chr 5, 151231086: 151231086
15GLRA1NM_001146040.1: c.(?_-287)_c.912+?deldeletionPathogenic
16GLRA1NM_001146040.1(GLRA1): c.971C> A (p.Ser324Ter)single nucleotide variantPathogenicrs121918418GRCh37Chr 5, 151208570: 151208570
17GLRA1NM_001146040.1(GLRA1): c.884G> A (p.Ser295Asn)single nucleotide variantPathogenicrs267606848GRCh37Chr 5, 151230979: 151230979
18GLRBNM_000824.4(GLRB): c.596T> G (p.Met199Arg)single nucleotide variantPathogenicrs398122856GRCh37Chr 4, 158058024: 158058024
19SLC6A5NM_004211.3(SLC6A5): c.1530T> G (p.Ser510Arg)single nucleotide variantPathogenicrs281864926GRCh37Chr 11, 20652267: 20652267
20GLRA1NM_001146040.1(GLRA1): c.1132G> A (p.Gly378Ser)single nucleotide variantPathogenicrs116474260GRCh37Chr 5, 151202476: 151202476
21GLRA1NM_001146040.1(GLRA1): c.299G> A (p.Arg100His)single nucleotide variantPathogenicrs281864914GRCh37Chr 5, 151239523: 151239523
22GLRA1NM_001146040.1(GLRA1): c.737G> A (p.Arg246Gln)single nucleotide variantPathogenicrs281864916GRCh37Chr 5, 151231126: 151231126
23GLRA1NM_001146040.1(GLRA1): c.801G> C (p.Trp267Cys)single nucleotide variantPathogenicrs281864917GRCh37Chr 5, 151231062: 151231062
24GLRA1NM_001146040.1(GLRA1): c.892T> A (p.Ser298Thr)single nucleotide variantPathogenicrs281864920GRCh37Chr 5, 151230971: 151230971
25GLRA1NM_001146040.1(GLRA1): c.920A> C (p.Tyr307Ser)single nucleotide variantPathogenicrs121918410GRCh37Chr 5, 151208621: 151208621
26GLRA1NM_001146040.1(GLRA1): c.921delT (p.Tyr307Terfs)deletionPathogenicrs281864921GRCh37Chr 5, 151208620: 151208620
27GLRA1NM_001146040.1(GLRA1): c.1030C> T (p.Arg344Ter)single nucleotide variantPathogenicrs281864913GRCh37Chr 5, 151208511: 151208511
28GLRA1NM_001146040.1(GLRA1): c.298delC (p.Arg100Alafs)deletionPathogenicrs281864915GRCh37Chr 5, 151239524: 151239524
29GLRA1NM_001146040.1(GLRA1): c.1283G> A (p.Arg428His)single nucleotide variantPathogenicrs281864919GRCh37Chr 5, 151202325: 151202325
30SLC6A5NM_004211.3(SLC6A5): c.1444T> C (p.Trp482Arg)single nucleotide variantPathogenicrs281864925GRCh37Chr 11, 20649574: 20649574
31SLC6A5NM_004211.3(SLC6A5): c.323delC (p.Pro108Leufs)deletionPathogenicrs281864923GRCh37Chr 11, 20622994: 20622994
32GLRA1NM_000171.3: c.(?_-287)_697+?deldeletionPathogenic
33SLC6A5NM_004211.3(SLC6A5): c.1131C> A (p.Tyr377Ter)single nucleotide variantPathogenicrs121908493GRCh37Chr 11, 20639301: 20639301
34SLC6A5NM_004211.3(SLC6A5): c.1294delGinsTT (p.Val432Phefs)indelPathogenicrs281864924GRCh37Chr 11, 20648287: 20648287
35SLC6A5NM_004211.3(SLC6A5): c.1472A> G (p.Tyr491Cys)single nucleotide variantPathogenicrs121908494GRCh37Chr 11, 20649602: 20649602
36SLC6A5NM_004211.3(SLC6A5): c.1888C> T (p.Gln630Ter)single nucleotide variantPathogenicrs121908495GRCh37Chr 11, 20660023: 20660023
37SLC6A5NM_004211.3(SLC6A5): c.916C> G (p.Leu306Val)single nucleotide variantPathogenicrs121908496GRCh37Chr 11, 20629129: 20629129
38SLC6A5NM_004211.3(SLC6A5): c.1526A> G (p.Asn509Ser)single nucleotide variantPathogenicrs121908497GRCh37Chr 11, 20652263: 20652263
39SLC6A5NM_004211.3(SLC6A5): c.1274C> T (p.Thr425Met)single nucleotide variantPathogenicrs121908498GRCh37Chr 11, 20648267: 20648267
40GPHNNM_020806.4(GPHN): c.28A> T (p.Asn10Tyr)single nucleotide variantPathogenicrs121908539GRCh37Chr 14, 66975273: 66975273

Expression for genes affiliated with Hyperekplexia

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Search GEO for disease gene expression data for Hyperekplexia.

Pathways for genes affiliated with Hyperekplexia

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Pathways related to Hyperekplexia according to GeneCards Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
flavin biosynthesis IV (mammalian)36
molybdenum cofactor biosynthesis36
coenzyme A biosynthesis36
thiamin salvage III36
alanine biosynthesis III36
thio-molybdenum cofactor biosynthesis36
biotin-carboxyl carrier protein assembly36
9.6GPHN, MOCS1
2
Show member pathways
9.5GABRG2, ARHGEF9
3
Show member pathways
8.1GLRA3, GLRB, GLRA1, GLRA4, GLRA2
4
Show member pathways
7.9GLRA3, GLRB, GLRA1, GLRA2, GABRG2
5
Show member pathways
7.1GLRA3, GLRB, GLRA1, GLRA4, ARHGEF9, GABRG2
6
Show member pathways
7.1GLRA3, GLRB, GLRA1, GLRA4, GLRA2, GABRG2
7
Show member pathways
6.8GLRA3, GLRB, GLRA1, GLRA4, GLRA2, GABRG2

Compounds for genes affiliated with Hyperekplexia

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Compounds related to Hyperekplexia according to GeneCards Suite gene sharing:

(show all 36)
idCompoundScoreTop Affiliating Genes
1moco439.8GPHN, MOCS1
2molybdopterin43 2410.7MOCS1, GPHN
3pmba289.6GLRA1, GLRA2
4clonazepam43 1210.5GABRG2, GLRA1
5nifedipine43 28 49 1212.4GLRA1, GLRB, GLRA3
6cyanotriphenylborate289.4GLRB, GLRA1, GLRA2
7ginkgolide x289.4GLRA2, GLRA1, GLRB
8molybdenum43 2410.4GARS, MOCS1, GPHN
9bilobalide289.4GLRA2, GLRA1, GLRB
10pregnenolone sulphate289.4GLRB, GLRA1, GLRA2
11colchicine43 59 2 28 1213.4GLRA2, GLRA1
12tropisetron28 4310.4GLRA2, GLRA1, GLRB
13win55212-2289.3GLRA2, GLRA3
14nmda43 2810.2SLC6A5, GARS, GLRB, GPHN
15bicuculline43 2810.2GLRA2, GARS
16[3h]strychnine289.2GLRA3, GLRA1, GLRA2
17cu2+289.2GLRA3, GLRA1, GLRA2
18hu-308289.2GLRA2, GLRA1, GLRA3
19hu-210289.1GLRA2, GLRA1, GLRA3
20delta9-tetrahydrocannabinol289.1GLRA2, GLRA1, GLRA3
21picrotin288.9GLRA2, GLRA1, GLRB, GLRA3
22ginkgolide b28 43 5910.9GLRA3, GLRB, GLRA1, GLRA2
23lindane43 129.9GLRA2, GLRA1, GLRB, GLRA3
24zn2+288.9GLRA3, GLRB, GLRA1, GLRA2
25ethanol43 49 24 1211.6GARS, GLRA2, GLRA1
26hypotaurine59 43 2410.5GLRA3, GLRB, GLRA1, GLRA4, GLRA2
27l-serine59 28 24 1211.5GLRA3, GLRB, GLRA1, GLRA4, GLRA2
28l-alanine59 28 24 1211.5GLRA3, GLRB, GLRA1, GLRA4, GLRA2
29picrotoxinin2 43 2810.5GLRA3, GLRB, GLRA1, GLRA2, GARS
30picrotoxin43 28 1210.5GLRA3, GLRB, GLRA1, GLRA2, GARS
31strychnine43 2 2810.4GARS, GLRA2, GLRA1, GLRA3, GPHN
32gaba438.2GPHN, GLRA2, GABRG2, GARS, SLC6A5
33glycine28 24 1210.2GLRA3, GLRB, GLRA1, GLRA2, GARS, SLC6A5
34beta-alanine43 59 28 24 1212.1GARS, GLRA3, GLRB, GLRA1, GLRA4, GLRA2
35taurine43 59 2410.1GLRA3, GLRB, GLRA1, GLRA4, GLRA2, GARS
36chlorine43 248.9GLRA3, GLRB, GLRA1, GLRA4, GLRA2, GABRG2

GO Terms for genes affiliated with Hyperekplexia

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

idNameGO IDScoreTop Affiliating Genes
1chloride channel complexGO:00347077.6GLRB, GABRG2, GLRA2, GLRA4, GLRA1, GLRA3
2plasma membraneGO:00058867.3GABRG2, GLRA2, GLRA1, GLRB, GLRA3, GPHN
3integral component of plasma membraneGO:00058877.2GABRG2, GLRA2, GLRA4, GLRA1, GLRB, GLRA3
4postsynaptic membraneGO:00452117.2GPHN, GABRG2, GLRA2, GLRA4, GLRA1, GLRB
5cell junctionGO:00300547.1GPHN, GLRA3, GLRB, GLRA1, GLRA4, GLRA2

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

(show all 16)
idNameGO IDScoreTop Affiliating Genes
1synaptic transmission, glycinergicGO:006001210.2GLRA1, GLRB
2righting reflexGO:006001310.1GLRA1, GLRB
3startle responseGO:000196410.0GLRA1, GLRB
4acrosome reactionGO:000734010.0GLRB, GLRA1
5adult walking behaviorGO:00076289.9GLRA1, GLRB
6molybdopterin cofactor biosynthetic processGO:00323249.9MOCS1, GPHN
7Mo-molybdopterin cofactor biosynthetic processGO:00067779.8GPHN, MOCS1
8regulation of membrane potentialGO:00423919.8GLRB, GLRA1
9vitamin metabolic processGO:00067669.6MOCS1, GPHN
10chloride transmembrane transportGO:019024769.3GLRB, GLRA1, GLRA2
11water-soluble vitamin metabolic processGO:00067679.3MOCS1, GPHN
12neuropeptide signaling pathwayGO:00072189.2GLRB, GLRA1, GLRA2
13ion transportGO:00068119.1GLRA2, GLRA1, GLRB
14synaptic transmissionGO:00072689.1ARHGEF9, SLC6A5, GABRG2, GLRB
15ion transmembrane transportGO:00342207.9ARHGEF9, GABRG2, GLRA2, GLRA1, GLRB, GLRA3
16transmembrane transportGO:00550857.5GLRA3, GLRB, GLRA1, GLRA2, GABRG2, SLC6A5

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

idNameGO IDScoreTop Affiliating Genes
1chloride channel activityGO:00052549.4GABRG2, GLRA4
2extracellular ligand-gated ion channel activityGO:00052309.1GABRG2, GLRA4
3extracellular-glycine-gated chloride channel activityGO:00169348.4GLRA3, GLRB, GLRA1, GLRA2
4transmitter-gated ion channel activityGO:00228248.4GLRA3, GLRA1, GLRA4, GLRA2
5glycine bindingGO:00165948.2GLRA2, GLRA4, GLRA1, GLRB, GLRA3

Products for genes affiliated with Hyperekplexia

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Hyperekplexia

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet