STHE
MCID: HYP097
MIFTS: 52

Hyperekplexia (STHE) malady

Genetic diseases category

Summaries for Hyperekplexia

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21Genetics Home Reference, 42NIH Rare Diseases, 63Wikipedia, 19GeneReviews, 32MalaCards
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NIH Rare Diseases:42 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 Activation of GABAB receptors and Signaling by Slit. The compounds Ginkgo biloba and pmba have been mentioned in the context of this disorder. Affiliated tissues include brain, eye and cortex, and related mouse phenotypes are growth/size and mortality/aging.

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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19GeneReviews, 20GeneTests, 22GTR, 21Genetics Home Reference, 44Novoseek, 42NIH Rare Diseases, 60UMLS
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Classifications:

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


Aliases & Descriptions:

hyperekplexia 19 20 22 21 44
hereditary hyperekplexia 42 22 21
startle disease, familial 19 42
hyperexplexia hereditary 42 60
startle syndrome 19 21
congenital stiff-person syndrome 21
startle reaction, exaggerated 42
congenital stiff-man syndrome 21
exaggerated startle reaction 42
jumping frenchmen of maine 60
hyperekplexia, hereditary 19
familial hyperekplexia 21
stiff-baby syndrome 21
kok disease 42
sthe 21


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

Clinical Features for Hyperekplexia

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Drugs & Therapeutics for Hyperekplexia

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

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Drug clinical trials:

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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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32MalaCards
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MalaCards organs/tissues related to Hyperekplexia:

32
Brain, Eye, Cortex, Heart

Animal Models for Hyperekplexia or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Hyperekplexia:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053787.6GLRA2, GLRA1, GLRB, GABRG2, GARS, MOCS1
2MP:00107686.9SLC6A5, GPHN, GLRA2, GLRA1, GLRB, GABRG2
3MP:00053866.6GPHN, SLC6A5, GLRA1, GLRB, GLRA3, ARHGEF9
4MP:00036316.5GPHN, GLRA2, GLRA1, GLRB, GLRA3, ARHGEF9

Publications for Hyperekplexia

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50PubMed
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Articles related to Hyperekplexia:

(show top 50)    (show all 150)
idTitleAuthorsYear
1
Sporadic hyperekplexia presenting with an ataxic gait. (24054400)
2014
2
Presynaptic glycine receptors as a potential therapeutic target for hyperekplexia disease. (24390226)
2014
3
The GLRA1 missense mutation W170S associates lack of Zn2+ potentiation with human hyperekplexia. (24198360)
2013
4
GLRB is the third major gene of effect in hyperekplexia. (23184146)
2013
5
Clinical features and genetic analysis of children with hyperekplexia in Korea. (22532536)
2013
6
A new hyperekplexia family with a recessive frameshift mutation in the GLRA1 gene. (22290764)
2012
7
Function of hyperekplexia-causing I+1R271Q/L glycine receptors is restored by shifting the affected residue out of the allosteric signalling pathway. (21955162)
2012
8
A novel dominant hyperekplexia mutation Y705C alters trafficking and biochemical properties of the presynaptic glycine transporter GlyT2. (22753417)
2012
9
Novel mutation in GLRB in a large family with hereditary hyperekplexia. (21391991)
2012
10
A novel syndrome of lethal familial hyperekplexia associated with brain malformation. (23101555)
2012
11
Sinus node paucity in hyperekplexia. (21220806)
2010
12
Anaesthetic implications of hyperekplexia--'startle disease'. (18361020)
2008
13
Clinical and inheritance profiles of hyperekplexia in Jordan. (17715287)
2007
14
A novel GLRA1 mutation in a recessive hyperekplexia pedigree. (17534957)
2007
15
A case of major form familial hyperekplexia: prenatal diagnosis and effective treatment with clonazepam. (17641268)
2007
16
Two Japanese families with hyperekplexia who have a Arg271Gln mutation in the glycine receptor alpha 1 subunit gene. (16478653)
2006
17
Identification of the microdeletion breakpoint in a GLRA1null allele of Turkish hyperekplexia patients. (16941485)
2006
18
Hyperekplexia in two siblings. (17202641)
2006
19
Hyperekplexia phenotype of glycine receptor alpha1 subunit mutant mice identifies Zn(2+) as an essential endogenous modulator of glycinergic neurotransmission. (17114051)
2006
20
Familial hyperekplexia and refractory status epilepticus: a new autosomal recessive syndrome. (15526957)
2004
21
Sporadic major hyperekplexia in neonates and infants: clinical manifestations and outcome. (15246489)
2004
22
A novel hyperekplexia-causing mutation in the pre-transmembrane segment 1 of the human glycine receptor alpha1 subunit reduces membrane expression and impairs gating by agonists. (15066993)
2004
23
Hyperekplexia and stiff-man syndrome: abnormal brainstem reflexes suggest a physiological relationship. (15314112)
2004
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
Glycine receptor knock-in mice and hyperekplexia-like phenotypes: comparisons with the null mutant. (12954867)
2003
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
Neurophysiology of the startle syndrome and hyperekplexia. (11968441)
2002
29
Functional characterization of compound heterozygosity for GlyRalpha1 mutations in the startle disease hyperekplexia. (12169101)
2002
30
Patients with the major and minor form of hyperekplexia differ with regards to disynaptic reciprocal inhibition between ankle flexor and extensor muscles. (11521151)
2001
31
Hyperekplexia in the first year of life. (11104232)
2000
32
Beneficial effect of fluoxetine in a case of sporadic hyperekplexia. (10895400)
2000
33
Hyperekplexia phenotype due to compound heterozygosity for GLRA1 gene mutations. (10514101)
1999
34
Hyperekplexia in a patient with a brainstem vascular anomaly. (10225359)
1999
35
Hyperekplexia: a rare differential of neonatal fits described in a developing country. (10716028)
1999
36
Structure-function relationships of the human glycine receptor: insights from hyperekplexia mutations. (10414353)
1999
37
Spectroscopic imaging of frontal neuronal dysfunction in hyperekplexia. (9712012)
1998
38
Neonatal sporadic hyperekplexia: a rare and often unrecognized entity. (9134197)
1997
39
Hyperekplexia: abnormal startle response due to glycine receptor mutations. (9093496)
1997
40
A GLRA1 null mutation in recessive hyperekplexia challenges the functional role of glycine receptors. (8651283)
1996
41
Hyperekplexia and the alpha1 subunit glycine receptor gene (GLRA1) (8815845)
1996
42
Mutational analysis of familial and sporadic hyperekplexia. (7611730)
1995
43
Molecular genetic reevaluation of the Dutch hyperekplexia family. (7763205)
1995
44
Hyperekplexia associated with apnea and sudden infant death syndrome. (8180653)
1994
45
Evidence for recessive as well as dominant forms of startle disease (hyperekplexia) caused by mutations in the alpha 1 subunit of the inhibitory glycine receptor. (7881416)
1994
46
Startle disease or hyperekplexia. (8224555)
1993
47
Genetic and radiation hybrid mapping of the hyperekplexia region on chromosome 5q. (1334371)
1992
48
Hyperekplexia: pedigree studies in two families. (1897565)
1991
49
Startle disease or hyperekplexia: adolescent onset and response to valproate. (2496695)
1989
50
Anatomical and clinical study of a case of subacute encephalomyelitis with hyperekplexia syndrome. (3145927)
1988

Genetic Variations for Hyperekplexia

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Expression for genes affiliated with Hyperekplexia

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1BioGPS, 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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53Reactome, 51QIAGEN, 12EMD Millipore, 29KEGG
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Compounds for genes affiliated with Hyperekplexia

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11DrugBank, 28IUPHAR, 44Novoseek, 24HMDB, 49PharmGKB, 59Tocris Bioscience, 2BitterDB
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Compounds related to Hyperekplexia according to GeneCards/GeneDecks:

(show all 36)
idCompoundScoreTop Affiliating Genes
1Ginkgo biloba119.9GLRA1, GABRG2
2pmba289.8GLRA1, GLRA2
3moco449.8GPHN, MOCS1
4molybdopterin44 2410.7GPHN, MOCS1
5cyanotriphenylborate289.6GLRB, GLRA1, GLRA2
6bilobalide289.6GLRB, GLRA1, GLRA2
7ginkgolide x289.6GLRB, GLRA1, GLRA2
8pregnenolone sulphate289.6GLRA2, GLRA1, GLRB
9tropisetron28 4410.6GLRB, GLRA1, GLRA2
10molybdenum44 2410.5GPHN, GARS, MOCS1
11clonazepam44 1110.4GLRA1, GABRG2
12bicuculline44 2810.3GLRA2, GARS
13nmda44 2810.3GARS, GLRB, GPHN, SLC6A5
14win55212-2289.2GLRA2, GLRA3
15ethanol44 49 11 2412.2GLRA2, GLRA1, GARS
16[3h]strychnine289.1GLRA3, GLRA1, GLRA2
17nifedipine44 49 28 1112.1GLRA3, GLRB, GLRA1
18cu2+289.1GLRA3, GLRA1, GLRA2
19hu-308289.1GLRA3, GLRA1, GLRA2
20hu-210289.1GLRA2, GLRA1, GLRA3
21δ9-tetrahydrocannabinol289.0GLRA2, GLRA1, GLRA3
22picrotin288.9GLRA2, GLRA1, GLRB, GLRA3
23ginkgolide b44 59 2810.9GLRA3, GLRB, GLRA1, GLRA2
24lindane44 119.8GLRA2, GLRA1, GLRB, GLRA3
25zn2+288.8GLRA3, GLRB, GLRA1, GLRA2
26hypotaurine59 44 2410.5GLRA4, GLRA3, GLRB, GLRA1, GLRA2
27l-serine28 59 11 2411.5GLRA4, GLRA3, GLRB, GLRA1, GLRA2
28l-alanine28 59 11 2411.5GLRA4, GLRA3, GLRB, GLRA1, GLRA2
29gaba448.5GARS, GABRG2, GLRA2, GPHN, SLC6A5
30picrotoxinin44 2 2810.5GARS, GLRA3, GLRB, GLRA1, GLRA2
31picrotoxin44 28 1110.4GLRA2, GLRA1, GLRB, GLRA3, GARS
32strychnine44 2 2810.4GPHN, GLRA2, GLRA1, GLRA3, GARS
33glycine28 11 2410.2GARS, GLRA3, GLRB, GLRA1, GLRA2, SLC6A5
34beta-alanine44 59 11 2411.1GLRA2, GLRA1, GLRB, GLRA3, GLRA4, GARS
35taurine44 59 2410.1GARS, GLRA4, GLRA3, GLRB, GLRA1, GLRA2
36chlorine44 249.0GABRG2, GLRA4, GLRA3, GLRB, GLRA1, GLRA2

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:0347077.7GLRA4, GLRA2, GLRA1, GLRB, GLRA3, GABRG2
2integral to plasma membraneGO:0058877.3GLRA2, GLRA1, GLRB, GLRA3, GLRA4, GABRG2
3plasma membraneGO:0058867.3GPHN, GLRA2, GLRA1, GLRB, GLRA3, GABRG2
4postsynaptic membraneGO:0452117.2GABRG2, GPHN, GLRA2, GLRA1, GLRB, GLRA3
5cell junctionGO:0300547.1GABRG2, GLRA4, GLRA3, GLRB, GLRA1, GLRA2

Biological processes related to Hyperekplexia according to GeneCards/GeneDecks:

(show all 14)
idNameGO IDScoreTop Affiliating Genes
1synaptic transmission, glycinergicGO:06001210.2GLRA1, GLRB
2righting reflexGO:06001310.1GLRB, GLRA1
3startle responseGO:00196410.1GLRA1, GLRB
4acrosome reactionGO:00734010.0GLRB, GLRA1
5regulation of membrane potentialGO:0423919.9GLRA1, GLRB
6adult walking behaviorGO:0076289.8GLRB, GLRA1
7molybdopterin cofactor biosynthetic processGO:0323249.8GPHN, MOCS1
8Mo-molybdopterin cofactor biosynthetic processGO:0067779.8MOCS1, GPHN
9protein heterooligomerizationGO:0512919.6GLRA1, GLRB
10neuropeptide signaling pathwayGO:0072189.4GLRA2, GLRA1, GLRB
11ion transportGO:0068119.3GLRA2, GLRA1, GLRB
12synaptic transmissionGO:0072688.5GABRG2, ARHGEF9, GLRA3, GLRB, SLC6A5
13ion transmembrane transportGO:0342207.9GLRA2, GLRA1, GLRB, GLRA3, ARHGEF9, GABRG2
14transmembrane transportGO:0550857.6GABRG2, ARHGEF9, GLRA3, GLRB, GLRA1, GLRA2

Molecular functions related to Hyperekplexia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1chloride channel activityGO:0052549.6GABRG2, GLRA4
2extracellular ligand-gated ion channel activityGO:0052308.5GABRG2, GLRA4, GLRA3
3extracellular-glycine-gated chloride channel activityGO:0169348.5GLRA3, GLRB, GLRA1, GLRA2
4transmitter-gated ion channel activityGO:0228248.3GLRA2, GLRA1, GLRA3, GLRA4
5glycine bindingGO:0165948.2GLRA4, GLRA3, GLRB, GLRA1, GLRA2

Products for genes affiliated with Hyperekplexia

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Sources for Hyperekplexia

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3CDC
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25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
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34MeSH
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40NDF-RT
43NINDS
44Novoseek
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47OMIM via Orphanet
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