STHE
MCID: HYP097
MIFTS: 51

Hyperekplexia (STHE) malady

Genetic category

Summaries for Hyperekplexia

Sources:
21Genetics Home Reference, 43NIH Rare Diseases, 64Wikipedia, 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 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, cortex and heart, 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:64 Hyperekplexia (\"exaggerated surprise\") is a neurologic disorder classically characterised by... more...

GeneReviews summary for hyperek

Aliases & Classifications for Hyperekplexia

Sources:
19GeneReviews, 43NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 45Novoseek, 61UMLS
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Classifications:

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


Aliases & Descriptions:

hyperekplexia 19 20 22 21 45
hereditary hyperekplexia 43 22 21
startle disease, familial 19 43
hyperexplexia hereditary 43 61
startle syndrome 19 21
congenital stiff-person syndrome 21
startle reaction, exaggerated 43
congenital stiff-man syndrome 21
exaggerated startle reaction 43
jumping frenchmen of maine 61
hyperekplexia, hereditary 19
familial hyperekplexia 21
stiff-baby syndrome 21
kok disease 43
sthe 21


Related Diseases for Hyperekplexia

Sources:
17GeneCards, 18GeneDecks
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Graphical network of the top 20 diseases related to Hyperekplexia:



Diseases related to hyperekplexia

Clinical Features for Hyperekplexia

Drugs & Therapeutics for Hyperekplexia

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
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Approved drugs:

Search CenterWatch for Hyperekplexia

Drug clinical trials:

Search ClinicalTrials for Hyperekplexia

Search NIH Clinical Center for Hyperekplexia

Search CenterWatch for Hyperekplexia

Genetic Tests for Hyperekplexia

Sources:
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

Sources:
33MalaCards
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MalaCards organs/tissues related to Hyperekplexia:

33
Brain, Cortex, Heart, Skeletal muscle

Animal Models for Hyperekplexia or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
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Publications for Hyperekplexia

Sources:
51PubMed
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Articles related to Hyperekplexia:

(show top 50)    (show all 150)
idTitleAuthorsYear
1
GLRB is the third major gene of effect in hyperekplexia. (23184146)
2013
2
Glycine receptor mouse mutants: model systems for human hyperekplexia. (23941355)
2013
3
A Startling Case of Neonatal Hyperekplexia Responsive to Levetiracetam: A New Alternative in Management? (23034981)
2013
4
Novel mutation of GLRA1 in Omani families with hyperekplexia and mild mental retardation. (22264702)
2012
5
Novel mutation in GLRB in a large family with hereditary hyperekplexia. (21391991)
2012
6
Sinus node paucity in hyperekplexia. (21220806)
2010
7
Pathophysiological mechanisms of dominant and recessive GLRA1 mutations in hyperekplexia. (20631190)
2010
8
Recessive hyperekplexia mutations of the glycine receptor alpha1 subunit affect cell surface integration and stability. (19732286)
2009
9
The novel hyperekplexia allele GLRA1(S267N) affects the ethanol site of the glycine receptor. (18043720)
2008
10
Anaesthetic implications of hyperekplexia--'startle disease'. (18361020)
2008
11
Bilateral inguinal hernia repair in a child with hyperekplexia. (17897277)
2007
12
Clinical and inheritance profiles of hyperekplexia in Jordan. (17715287)
2007
13
Pontine hyperperfusion in sporadic hyperekplexia. (17702784)
2007
14
Two Japanese families with hyperekplexia who have a Arg271Gln mutation in the glycine receptor alpha 1 subunit gene. (16478653)
2006
15
Neonatal hyperekplexia: the Stiff-Baby syndrome. (16820664)
2006
16
Identification of the microdeletion breakpoint in a GLRA1null allele of Turkish hyperekplexia patients. (16941485)
2006
17
Hyperekplexia in two siblings. (17202641)
2006
18
Hyperekplexia phenotype of glycine receptor alpha1 subunit mutant mice identifies Zn(2+) as an essential endogenous modulator of glycinergic neurotransmission. (17114051)
2006
19
Molybdenum cofactor deficiency presenting as neonatal hyperekplexia: a clinical, biochemical and genetic study. (16429380)
2005
20
Molecular dynamics simulation links conformation of a pore-flanking region to hyperekplexia-related dysfunction of the inhibitory glycine receptor. (15489161)
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 (startle disease): a novel mutation (S270T) in the M2 domain of the GLRA1 gene and a molecular review of the disorder. (14580232)
2003
24
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
25
Major and minor form of hereditary hyperekplexia. (12210885)
2002
26
Compound heterozygosity and nonsense mutations in the alpha(1)-subunit of the inhibitory glycine receptor in hyperekplexia. (11702206)
2001
27
Hyperekplexia in the first year of life. (11104232)
2000
28
Hypertension, hyperekplexia, and pyramidal paresis due to vascular compression of the medulla. (11087786)
2000
29
Beneficial effect of fluoxetine in a case of sporadic hyperekplexia. (10895400)
2000
30
Novel GLRA1 missense mutation (P250T) in dominant hyperekplexia defines an intracellular determinant of glycine receptor channel gating. (9920650)
1999
31
Hyperekplexia phenotype due to compound heterozygosity for GLRA1 gene mutations. (10514101)
1999
32
Hyperekplexia and trismus due to brainstem encephalopathy. (9667574)
1998
33
The effects of clonazepam and vigabatrin in hyperekplexia. (9168167)
1997
34
Startle responses in hereditary hyperekplexia. (9109739)
1997
35
Symptomatic hyperekplexia occurring as a result of pontine infarction. (9380074)
1997
36
A GLRA1 null mutation in recessive hyperekplexia challenges the functional role of glycine receptors. (8651283)
1996
37
Hyperekplexia and the alpha1 subunit glycine receptor gene (GLRA1) (8815845)
1996
38
Physiological studies of spinal inhibitory pathways in patients with hereditary hyperekplexia. (8618680)
1996
39
Complete heart block in nonfamilial hyperekplexia. (7779213)
1995
40
Molecular genetic reevaluation of the Dutch hyperekplexia family. (7763205)
1995
41
Saccadic eye movements in hyperekplexia. (8749994)
1995
42
Hyperekplexia and stiff-baby syndrome: an identical neurological disorder? (8509269)
1993
43
Hyperekplexia (20301437)
1993
44
Genetic and radiation hybrid mapping of the hyperekplexia region on chromosome 5q. (1334371)
1992
45
Neonatal hyperekplexia: a case report. (1396422)
1992
46
Hyperekplexia and sudden neonatal death. (1622521)
1992
47
Hyperekplexia: pedigree studies in two families. (1897565)
1991
48
Hyperekplexia: a syndrome of pathological startle responses. (6424556)
1984
49
Hyperekplexia exacerbated by occlusion of posterior thalamic arteries. (6830475)
1983
50
Hyperekplexia. (6830476)
1983

Genetic Variations for Hyperekplexia

Expression for genes affiliated with Hyperekplexia

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Hyperekplexia

Search GEO for disease gene expression data for Hyperekplexia.

Pathways for genes affiliated with Hyperekplexia

Sources:
54Reactome, 52QIAGEN, 12EMD Millipore, 30KEGG
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Compounds for genes affiliated with Hyperekplexia

Sources:
11DrugBank, 29IUPHAR, 45Novoseek, 24HMDB, 50PharmGKB, 60Tocris Bioscience, 2BitterDB
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Compounds related to Hyperekplexia according to GeneCards/GeneDecks:

(show all 36)
idCompoundScoreTop Affiliating Genes
1Ginkgo biloba119.9GLRA1, GABRG2
2pmba299.8GLRA1, GLRA2
3moco459.8GPHN, MOCS1
4molybdopterin45 2410.7GPHN, MOCS1
5cyanotriphenylborate299.6GLRB, GLRA1, GLRA2
6bilobalide299.6GLRB, GLRA1, GLRA2
7ginkgolide x299.6GLRB, GLRA1, GLRA2
8pregnenolone sulphate299.6GLRA2, GLRA1, GLRB
9tropisetron29 4510.6GLRB, GLRA1, GLRA2
10molybdenum45 2410.5GPHN, GARS, MOCS1
11clonazepam45 1110.4GLRA1, GABRG2
12bicuculline45 2910.3GLRA2, GARS
13nmda45 2910.3GARS, GLRB, GPHN, SLC6A5
14win55212-2299.2GLRA2, GLRA3
15ethanol45 50 11 2412.2GLRA2, GLRA1, GARS
16[3h]strychnine299.1GLRA3, GLRA1, GLRA2
17nifedipine45 50 29 1112.1GLRA3, GLRB, GLRA1
18cu2+299.1GLRA3, GLRA1, GLRA2
19hu-308299.1GLRA3, GLRA1, GLRA2
20hu-210299.1GLRA2, GLRA1, GLRA3
21δ9-tetrahydrocannabinol299.0GLRA2, GLRA1, GLRA3
22picrotin298.9GLRA2, GLRA1, GLRB, GLRA3
23ginkgolide b45 60 2910.9GLRA3, GLRB, GLRA1, GLRA2
24lindane45 119.8GLRA2, GLRA1, GLRB, GLRA3
25zn2+298.8GLRA3, GLRB, GLRA1, GLRA2
26hypotaurine60 45 2410.5GLRA4, GLRA3, GLRB, GLRA1, GLRA2
27l-serine29 60 11 2411.5GLRA4, GLRA3, GLRB, GLRA1, GLRA2
28l-alanine29 60 11 2411.5GLRA4, GLRA3, GLRB, GLRA1, GLRA2
29gaba458.5GARS, GABRG2, GLRA2, GPHN, SLC6A5
30picrotoxinin45 2 2910.5GARS, GLRA3, GLRB, GLRA1, GLRA2
31picrotoxin45 29 1110.4GLRA2, GLRA1, GLRB, GLRA3, GARS
32strychnine45 2 2910.4GPHN, GLRA2, GLRA1, GLRA3, GARS
33glycine29 11 2410.2GARS, GLRA3, GLRB, GLRA1, GLRA2, SLC6A5
34beta-alanine45 60 11 2411.1GLRA2, GLRA1, GLRB, GLRA3, GLRA4, GARS
35taurine45 60 2410.1GARS, GLRA4, GLRA3, GLRB, GLRA1, GLRA2
36chlorine45 249.0GABRG2, GLRA4, GLRA3, GLRB, GLRA1, GLRA2

GO Terms for genes affiliated with Hyperekplexia

Sources:
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:0052549.6GLRA4, GABRG2
2extracellular ligand-gated ion channel activityGO:0052308.5GLRA3, GLRA4, GABRG2
3transmitter-gated ion channel activityGO:0228248.4GLRA4, GLRA3, GLRA1, GLRA2
4extracellular-glycine-gated chloride channel activityGO:0169348.4GLRA3, GLRB, GLRA1, GLRA2
5glycine bindingGO:0165948.2GLRA2, GLRA1, GLRB, GLRA3, GLRA4

Products for genes affiliated with Hyperekplexia

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Hyperekplexia

3CDC
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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet