STHE
MCID: HYP097
MIFTS: 55

Hyperekplexia (STHE) malady

Genetic diseases, Rare diseases categories
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Summaries for Hyperekplexia

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21Genetics Home Reference, 43NIH Rare Diseases, 65Wikipedia, 19GeneReviews, 33MalaCards
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NIH Rare Diseases:43 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: Hyperekplexia, also known as hereditary hyperekplexia, is related to stiff-person syndrome and molybdenum cofactor deficiency. 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 brain, eye and cortex, 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:65 Hyperekplexia (\"exaggerated surprise\") is a neurologic disorder classically characterised by... more...

GeneReviews summary for hyperek

Aliases & Classifications for Hyperekplexia

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19GeneReviews, 43NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 45Novoseek, 62UMLS
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases


Aliases & Descriptions:

hyperekplexia 19 20 22 21 45
hereditary hyperekplexia 43 22 21
startle disease, familial 19 43
hyperexplexia hereditary 43 62
stiff-baby syndrome 43 21
startle syndrome 19 21
sthe 43 21
stiff-person syndrome, congenital 43
congenital stiff-person syndrome 21
stiff-man syndrome, congenital 43
startle reaction, exaggerated 43
congenital stiff-man syndrome 21
exaggerated startle reaction 43
jumping frenchmen of maine 62
hyperekplexia, hereditary 19
familial hyperekplexia 21
kok disease 43


Related Diseases for Hyperekplexia

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17GeneCards, 18GeneDecks
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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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Drugs & Therapeutics for Hyperekplexia

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42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
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Drug clinical trials:

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Search NIH Clinical Center for Hyperekplexia

Genetic Tests for Hyperekplexia

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20GeneTests, 22GTR
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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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33MalaCards
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MalaCards organs/tissues related to Hyperekplexia:

33
Brain, Eye, Cortex, Heart

Animal Models for Hyperekplexia or affiliated genes

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37MGI
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MGI Mouse Phenotypes related to Hyperekplexia:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053699.1SLC6A5, GARS, GLRA1, GLRB
2MP:00053918.1GPHN, GLRA3, GLRA1, GLRA2
3MP:00053787.0MOCS1, GLRB, GLRA1, GLRA2, GABRG2, GARS
4MP:00107686.7GPHN, 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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52PubMed
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Articles related to Hyperekplexia:

(show top 50)    (show all 148)
idTitleAuthorsYear
1
The impact of human hyperekplexia mutations on glycine receptor structure and function. (24405574)
2014
2
Sporadic hyperekplexia presenting with an ataxic gait. (24054400)
2014
3
Hyperekplexia: A Chinese Adolescent With 2 Novel Mutations of the GLRA1 Gene. (23143726)
2014
4
A 14-year-old girl with hyperekplexia having GLRB mutations. (23182654)
2013
5
The GLRA1 missense mutation W170S associates lack of Zn2+ potentiation with human hyperekplexia. (24198360)
2013
6
Novel mutation of GLRA1 in Omani families with hyperekplexia and mild mental retardation. (22264702)
2012
7
Hyperekplexia: treatment of a severe phenotype and review of the literature. (21515498)
2011
8
I^ Subunit M2-M3 loop conformational changes are uncoupled from I+1 I^ glycine receptor channel gating: implications for human hereditary hyperekplexia. (22132222)
2011
9
Hyperekplexia masquerading as epilepsy. (21222052)
2011
10
Sinus node paucity in hyperekplexia. (21220806)
2010
11
Recessive hyperekplexia mutations of the glycine receptor alpha1 subunit affect cell surface integration and stability. (19732286)
2009
12
Identification of a de novo Lys304Gln mutation in the glycine receptor alpha-1 subunit gene in a Korean infant with hyperekplexia. (18175347)
2008
13
Bilateral inguinal hernia repair in a child with hyperekplexia. (17897277)
2007
14
Clinical and inheritance profiles of hyperekplexia in Jordan. (17715287)
2007
15
A novel GLRA1 mutation in a recessive hyperekplexia pedigree. (17534957)
2007
16
Two Japanese families with hyperekplexia who have a Arg271Gln mutation in the glycine receptor alpha 1 subunit gene. (16478653)
2006
17
Molybdenum cofactor deficiency presenting as neonatal hyperekplexia: a clinical, biochemical and genetic study. (16429380)
2005
18
Familial hyperekplexia and refractory status epilepticus: a new autosomal recessive syndrome. (15526957)
2004
19
Late onset hyperekplexia. (15504715)
2004
20
Frontal lobe dysfunction in sporadic hyperekplexia--case study and literature review. (14999495)
2004
21
Two novel mutations of the glycine receptor gene in a Taiwanese hyperekplexia family. (15365143)
2004
22
Hereditary hyperekplexia caused by novel mutations of GLRA1 in Turkish families. (15771552)
2004
23
Magnetic resonance spectroscopy of cerebral cortex is normal in hereditary hyperekplexia due to mutations in the GLRA1 gene. (14673895)
2003
24
Hyperekplexia (startle disease): a novel mutation (S270T) in the M2 domain of the GLRA1 gene and a molecular review of the disorder. (14580232)
2003
25
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
26
Hyperekplexia mutation of glycine receptors: decreased gating efficacy with altered binding thermodynamics. (12123749)
2002
27
Hyperekplexia associated with compound heterozygote mutations in the beta-subunit of the human inhibitory glycine receptor (GLRB). (11929858)
2002
28
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
29
Hyperekplexia: a treatable neurogenetic disease. (12427512)
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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1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Hyperekplexia:

1 (show all 25)
id Gene Name Type Significance SNP ID Assembly Location
1GLRA1NM_001146040.1(GLRA1): c.896G> T (p.Arg299Leu)single nucleotide variantPathogenicrs121918408GRCh37Chr 5, 151230967: 151230967
2GLRA1NM_001146040.1(GLRA1): c.896G> A (p.Arg299Gln)single nucleotide variantPathogenicrs121918408GRCh37Chr 5, 151230967: 151230967
3GLRA1NM_001146040.1(GLRA1): c.815T> A (p.Ile272Asn)single nucleotide variantPathogenicrs121918409GRCh37Chr 5, 151231048: 151231048
4GLRA1NM_001146040.1(GLRA1): c.920A> G (p.Tyr307Cys)single nucleotide variantPathogenicrs121918410GRCh37Chr 5, 151208621: 151208621
5GLRA1NM_001146040.1(GLRA1): c.882G> C (p.Gln294His)single nucleotide variantPathogenicrs121918411GRCh37Chr 5, 151230981: 151230981
6GLRA1NM_001146040.1(GLRA1): c.910A> G (p.Lys304Glu)single nucleotide variantPathogenicrs121918412GRCh37Chr 5, 151230953: 151230953
7GLRA1NM_001146040.1(GLRA1): c.832C> A (p.Pro278Thr)single nucleotide variantPathogenicrs121918413GRCh37Chr 5, 151231031: 151231031
8GLRA1NM_001146040.1(GLRA1): c.298delC (p.Arg100Alafs)deletionPathogenicrs281864915GRCh37Chr 5, 151239524: 151239524
9GLRA1NM_001146040.1(GLRA1): c.523A> G (p.Met175Val)single nucleotide variantPathogenicrs121918414GRCh37Chr 5, 151235898: 151235898
10GLRA1NM_001146040.1(GLRA1): c.690C> A (p.Tyr230Ter)single nucleotide variantPathogenicrs121918415GRCh37Chr 5, 151234608: 151234608
11GLRA1NM_001146040.1(GLRA1): c.862G> A (p.Val288Met)single nucleotide variantPathogenicrs121918416GRCh37Chr 5, 151231001: 151231001
12GLRA1NM_001146040.1(GLRA1): c.777C> G (p.Ser259Arg)single nucleotide variantPathogenicrs121918417GRCh37Chr 5, 151231086: 151231086
13GLRA1NM_001146040.1: c.(?_-287)_c.912+?deldeletionPathogenic
14GLRA1NM_001146040.1(GLRA1): c.971C> A (p.Ser324Ter)single nucleotide variantPathogenicrs121918418GRCh37Chr 5, 151208570: 151208570
15GLRA1NM_001146040.1(GLRA1): c.884G> A (p.Ser295Asn)single nucleotide variantPathogenicrs267606848GRCh37Chr 5, 151230979: 151230979
16GLRA1NM_001146040.1(GLRA1): c.1132G> A (p.Gly378Ser)single nucleotide variantPathogenicrs116474260GRCh37Chr 5, 151202476: 151202476
17GLRA1NM_001146040.1(GLRA1): c.299G> A (p.Arg100His)single nucleotide variantPathogenicrs281864914GRCh37Chr 5, 151239523: 151239523
18GLRA1NM_001146040.1(GLRA1): c.737G> A (p.Arg246Gln)single nucleotide variantPathogenicrs281864916GRCh37Chr 5, 151231126: 151231126
19GLRA1NM_001146040.1(GLRA1): c.801G> C (p.Trp267Cys)single nucleotide variantPathogenicrs281864917GRCh37Chr 5, 151231062: 151231062
20GLRA1NM_001146040.1(GLRA1): c.892T> A (p.Ser298Thr)single nucleotide variantPathogenicrs281864920GRCh37Chr 5, 151230971: 151230971
21GLRA1NM_001146040.1(GLRA1): c.920A> C (p.Tyr307Ser)single nucleotide variantPathogenicrs121918410GRCh37Chr 5, 151208621: 151208621
22GLRA1NM_001146040.1(GLRA1): c.921delT (p.Tyr307Terfs)deletionPathogenicrs281864921GRCh37Chr 5, 151208620: 151208620
23GLRA1NM_001146040.1(GLRA1): c.298delC (p.Arg100Alafs)deletionPathogenicrs281864915GRCh37Chr 5, 151239524: 151239524
24GLRA1NM_000171.3: c.(?_-287)_697+?deldeletionPathogenic
25GPHNNM_020806.4(GPHN): c.28A> T (p.Asn10Tyr)single nucleotide variantPathogenic, Uncertain significancers121908539GRCh37Chr 14, 66975273: 66975273

Expression for genes affiliated with Hyperekplexia

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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Hyperekplexia

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Pathways for genes affiliated with Hyperekplexia

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50PathCards, 55Reactome, 38NCBI BioSystems Database, 60Thomson Reuters, 30KEGG
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Pathways related to Hyperekplexia according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
flavin biosynthesis IV (mammalian)38
molybdenum cofactor biosynthesis38
coenzyme A biosynthesis38
thiamin salvage III38
alanine biosynthesis III38
thio-molybdenum cofactor biosynthesis38
biotin-carboxyl carrier protein assembly38
9.5MOCS1, GPHN
2
Show member pathways
9.5ARHGEF9, GABRG2
3
Show member pathways
8.2GLRA3, GLRB, GLRA1, GLRA4, GLRA2
4
Show member pathways
7.9GLRA3, GLRB, GLRA1, GLRA2, GABRG2
5
Show member pathways
7.2ARHGEF9, GLRA3, GLRB, GLRA1, GLRA4, GLRA2
6
Show member pathways
7.2GLRA3, GLRB, GLRA1, GLRA4, GLRA2, GABRG2
7
Show member pathways
6.9GLRA3, GLRB, GLRA1, GLRA4, GLRA2, GABRG2

Compounds for genes affiliated with Hyperekplexia

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45Novoseek, 24HMDB, 29IUPHAR, 11DrugBank, 51PharmGKB, 61Tocris Bioscience, 3BitterDB
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Compounds related to Hyperekplexia according to GeneCards/GeneDecks:

(show all 36)
idCompoundScoreTop Affiliating Genes
1moco459.7GPHN, MOCS1
2molybdopterin45 2410.7MOCS1, GPHN
3pmba299.6GLRA1, GLRA2
4clonazepam45 1110.5GABRG2, GLRA1
5nifedipine45 29 51 1112.4GLRA1, GLRB, GLRA3
6cyanotriphenylborate299.4GLRB, GLRA1, GLRA2
7ginkgolide x299.4GLRA2, GLRA1, GLRB
8bilobalide299.4GLRA2, GLRA1, GLRB
9pregnenolone sulphate299.4GLRB, GLRA1, GLRA2
10colchicine45 61 3 29 1113.4GLRA2, GLRA1
11tropisetron29 4510.4GLRA2, GLRA1, GLRB
12win55212-2299.3GLRA2, GLRA3
13molybdenum45 2410.3GARS, MOCS1, GPHN
14bicuculline45 2910.2GLRA2, GARS
15[3h]strychnine299.2GLRA3, GLRA1, GLRA2
16cu2+299.2GLRA3, GLRA1, GLRA2
17nmda45 2910.2SLC6A5, GARS, GLRB, GPHN
18hu-308299.2GLRA2, GLRA1, GLRA3
19hu-210299.1GLRA2, GLRA1, GLRA3
20delta9-tetrahydrocannabinol299.1GLRA2, GLRA1, GLRA3
21picrotin298.9GLRA2, GLRA1, GLRB, GLRA3
22ginkgolide b29 45 6110.9GLRA3, GLRB, GLRA1, GLRA2
23lindane45 119.9GLRA2, GLRA1, GLRB, GLRA3
24zn2+298.9GLRA3, GLRB, GLRA1, GLRA2
25ethanol45 51 24 1111.6GARS, GLRA2, GLRA1
26hypotaurine61 45 2410.6GLRA3, GLRB, GLRA1, GLRA4, GLRA2
27l-serine61 29 24 1111.6GLRA3, GLRB, GLRA1, GLRA4, GLRA2
28l-alanine61 29 24 1111.6GLRA3, GLRB, GLRA1, GLRA4, GLRA2
29picrotoxinin3 45 2910.5GLRA3, GLRB, GLRA1, GLRA2, GARS
30picrotoxin45 29 1110.5GLRA3, GLRB, GLRA1, GLRA2, GARS
31strychnine45 3 2910.4GARS, GLRA2, GLRA1, GLRA3, GPHN
32glycine29 24 1110.2GLRA3, GLRB, GLRA1, GLRA2, GARS, SLC6A5
33beta-alanine45 61 29 24 1112.1GARS, GLRA3, GLRB, GLRA1, GLRA4, GLRA2
34taurine45 61 2410.1GLRA3, GLRB, GLRA1, GLRA4, GLRA2, GARS
35gaba458.1GPHN, GLRA2, GABRG2, GARS, SLC6A5
36chlorine45 248.9GLRA3, GLRB, GLRA1, GLRA4, GLRA2, GABRG2

GO Terms for genes affiliated with Hyperekplexia

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16Gene Ontology
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Cellular components related to Hyperekplexia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1chloride channel complexGO:0347077.6GABRG2, GLRA2, GLRA4, GLRA1, GLRB, GLRA3
2integral component of plasma membraneGO:0058877.3GLRA3, GLRB, GLRA1, GLRA4, GLRA2, GABRG2
3plasma membraneGO:0058867.2GLRA3, GLRB, GLRA1, GLRA2, GABRG2, SLC6A5
4postsynaptic membraneGO:0452117.1GPHN, GLRA3, GLRB, GLRA1, GLRA4, GLRA2
5cell junctionGO:0300547.0GPHN, GLRA3, GLRB, GLRA1, GLRA4, GLRA2

Biological processes related to Hyperekplexia according to GeneCards/GeneDecks:

(show all 16)
idNameGO IDScoreTop Affiliating Genes
1synaptic transmission, glycinergicGO:06001210.2GLRA1, GLRB
2righting reflexGO:06001310.1GLRA1, GLRB
3startle responseGO:00196410.0GLRA1, GLRB
4acrosome reactionGO:00734010.0GLRB, GLRA1
5adult walking behaviorGO:0076289.9GLRA1, GLRB
6molybdopterin cofactor biosynthetic processGO:0323249.8MOCS1, GPHN
7regulation of membrane potentialGO:0423919.8GLRB, GLRA1
8Mo-molybdopterin cofactor biosynthetic processGO:0067779.8GPHN, MOCS1
9vitamin metabolic processGO:0067669.5MOCS1, GPHN
10chloride transmembrane transportGO:19024769.3GLRB, GLRA1, GLRA2
11neuropeptide signaling pathwayGO:0072189.2GLRB, GLRA1, GLRA2
12water-soluble vitamin metabolic processGO:0067679.2MOCS1, GPHN
13ion transportGO:0068119.1GLRA2, GLRA1, GLRB
14synaptic transmissionGO:0072689.1ARHGEF9, SLC6A5, GABRG2, GLRB
15ion transmembrane transportGO:0342207.9ARHGEF9, GABRG2, GLRA2, GLRA1, GLRB, GLRA3
16transmembrane transportGO:0550857.6GLRA3, GLRB, GLRA1, GLRA2, GABRG2, SLC6A5

Molecular functions related to Hyperekplexia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1chloride channel activityGO:0052549.5GABRG2, GLRA4
2extracellular ligand-gated ion channel activityGO:0052309.2GABRG2, GLRA4
3transmitter-gated ion channel activityGO:0228248.5GLRA3, GLRA1, GLRA4, GLRA2
4extracellular-glycine-gated chloride channel activityGO:0169348.4GLRA3, GLRB, GLRA1, GLRA2
5glycine bindingGO:0165948.2GLRA2, GLRA4, GLRA1, GLRB, GLRA3

Products for genes affiliated with Hyperekplexia

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  • Antibodies
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Sources for Hyperekplexia

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet