STHE
MCID: HYP097
MIFTS: 52

Hyperekplexia (STHE) malady

Genetic diseases category

Summaries for Hyperekplexia

About this section
Sources:
21Genetics Home Reference, 42NIH Rare Diseases, 63Wikipedia, 19GeneReviews, 32MalaCards
See all sources

Fully expand this MalaCard

Export this MalaCard
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

About this section
Sources:
19GeneReviews, 42NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 44Novoseek, 60UMLS
See all sources

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

About this section
Sources:
17GeneCards, 18GeneDecks
See all sources

Graphical network of the top 20 diseases related to Hyperekplexia:



Diseases related to hyperekplexia

Clinical Features for Hyperekplexia

About this section

Drugs & Therapeutics for Hyperekplexia

About this section
Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
See all sources

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

About this section
Sources:
20GeneTests, 22GTR
See all sources

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

About this section
Sources:
32MalaCards
See all sources

MalaCards organs/tissues related to Hyperekplexia:

32
Brain, Eye, Cortex, Heart

Animal Models for Hyperekplexia or affiliated genes

About this section
Sources:
36MGI
See all sources

MGI Mouse Phenotypes related to Hyperekplexia:

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

Publications for Hyperekplexia

About this section
Sources:
50PubMed
See all sources

Articles related to Hyperekplexia:

(show top 50)    (show all 150)
idTitleAuthorsYear
1
Hyperekplexia: A Chinese Adolescent With 2 Novel Mutations of the GLRA1 Gene. (23143726)
2014
2
Analysis of hyperekplexia mutations identifies transmembrane domain rearrangements that mediate glycine receptor activation. (24097980)
2013
3
Glycine receptor mouse mutants: model systems for human hyperekplexia. (23941355)
2013
4
New hyperekplexia mutations provide insight into glycine receptor assembly, trafficking, and activation mechanisms. (24108130)
2013
5
A Startling Case of Neonatal Hyperekplexia Responsive to Levetiracetam: A New Alternative in Management? (23034981)
2013
6
Genotype-phenotype correlations in hyperekplexia: apnoeas, learning difficulties and speech delay. (24030948)
2013
7
Novel mutation of GLRA1 in Omani families with hyperekplexia and mild mental retardation. (22264702)
2012
8
Hyperekplexia masquerading as epilepsy. (21222052)
2011
9
Ectodermal, skeletal, and genitourinary abnormalities with neonatal hyperekplexia. (21481749)
2011
10
Hyperekplexia in a neonate: a novel finding in Fukuyama type congenital muscular dystrophy. (19852435)
2009
11
The novel hyperekplexia allele GLRA1(S267N) affects the ethanol site of the glycine receptor. (18043720)
2008
12
A novel GLRA1 mutation associated with an atypical hyperekplexia phenotype. (19073849)
2008
13
The genetics of hyperekplexia: more than startle! (18707791)
2008
14
Bilateral inguinal hernia repair in a child with hyperekplexia. (17897277)
2007
15
Neonatal hyperekplexia: the Stiff-Baby syndrome. (16820664)
2006
16
Mutations within the human GLYT2 (SLC6A5) gene associated with hyperekplexia. (16884688)
2006
17
Hyperekplexia in Kurdish families: a possible GLRA1 founder mutation. (16832093)
2006
18
Recessive hyperekplexia due to a new mutation (R100H) in the GLRA1 gene. (16078201)
2005
19
Trigeminally induced startle in children with hyperekplexia. (15584029)
2005
20
Hyperekplexia -- a treatable neuropediatric disease]. (16032547)
2005
21
Hereditary hyperekplexia caused by novel mutations of GLRA1 in Turkish families. (15771552)
2004
22
Magnetic resonance spectroscopy of cerebral cortex is normal in hereditary hyperekplexia due to mutations in the GLRA1 gene. (14673895)
2003
23
A novel mutation (R218Q) at the boundary between the N-terminal and the first transmembrane domain of the glycine receptor in a case of sporadic hyperekplexia. (12746425)
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
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
26
Hyperekplexia: a treatable neurogenetic disease. (12427512)
2002
27
Symptomatic hyperekplexia in a patient with multiple sclerosis. (11839869)
2002
28
Major and minor form of hereditary hyperekplexia. (12210885)
2002
29
Compound heterozygosity and nonsense mutations in the alpha(1)-subunit of the inhibitory glycine receptor in hyperekplexia. (11702206)
2001
30
Hypertension, hyperekplexia, and pyramidal paresis due to vascular compression of the medulla. (11087786)
2000
31
Novel GLRA1 missense mutation (P250T) in dominant hyperekplexia defines an intracellular determinant of glycine receptor channel gating. (9920650)
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
A novel mutation (Gln266-->His) in the alpha 1 subunit of the inhibitory glycine-receptor gene (GLRA1) in hereditary hyperekplexia. (8571969)
1996
36
Analysis of GLRA1 in hereditary and sporadic hyperekplexia: a novel mutation in a family cosegregating for hyperekplexia and spastic paraparesis. (8733061)
1996
37
Physiological studies of spinal inhibitory pathways in patients with hereditary hyperekplexia. (8618680)
1996
38
Co-dominant inheritance of hyperekplexia and spastic paraparesis. (8761170)
1996
39
Familial hyperekplexia: startle disease. Clinical, electrophysiological and genetic study of a family]. (8944241)
1996
40
Startle disease--hyperekplexia (two sibling cases). (8952019)
1996
41
Somatosensory evoked potentials and hyperekplexia outcome. (7746224)
1995
42
Complete heart block in nonfamilial hyperekplexia. (7779213)
1995
43
Hyperekplexia as cause of abnormal intrauterine movements. (7853985)
1995
44
Saccadic eye movements in hyperekplexia. (8749994)
1995
45
Hyperekplexia and stiff-baby syndrome: an identical neurological disorder? (8509269)
1993
46
Hyperekplexia (20301437)
1993
47
Hyperekplexia and sudden neonatal death. (1622521)
1992
48
Hyperekplexia: a syndrome of pathological startle responses. (6424556)
1984
49
Hyperekplexia relieved by surgical decompression of the cervicomedullary region. (6657027)
1983
50
Startle disease or hyperekplexia: further delineation of the syndrome. (6777025)
1980

Genetic Variations for Hyperekplexia

About this section

Expression for genes affiliated with Hyperekplexia

About this section
Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

About this section
Sources:
53Reactome, 51QIAGEN, 12EMD Millipore, 29KEGG
See all sources

Compounds for genes affiliated with Hyperekplexia

About this section
Sources:
11DrugBank, 28IUPHAR, 44Novoseek, 24HMDB, 49PharmGKB, 59Tocris Bioscience, 2BitterDB
See all sources

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

About this section
Sources:
16Gene Ontology
See all sources

Cellular components related to Hyperekplexia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1chloride channel complexGO:0347077.7GLRA2, GLRA1, GLRB, GLRA3, GLRA4, GABRG2
2integral to plasma membraneGO:0058877.3GABRG2, GLRA4, GLRA3, GLRB, GLRA1, GLRA2
3plasma membraneGO:0058867.3GLRA3, GLRB, GLRA1, GLRA2, GPHN, SLC6A5
4postsynaptic membraneGO:0452117.2GABRG2, GLRA4, GLRA3, GLRB, GLRA1, GLRA2
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

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Hyperekplexia

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet