STHE
MCID: HYP097
MIFTS: 57

Hyperekplexia (STHE) malady

Genetic diseases, Rare diseases categories
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Summaries for Hyperekplexia

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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 based summary: 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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Hyperekplexia, Aliases & Descriptions:

Name: Hyperekplexia 19 20 22 21 44 62
Hereditary Hyperekplexia 42 22 21
Startle Syndrome 19 21 62
Congenital Stiff-Person Syndrome 21 62
Startle Reaction, Exaggerated 42 62
Congenital Stiff-Man Syndrome 21 62
Startle Disease, Familial 19 42
Hyperexplexia Hereditary 42 62
Familial Hyperekplexia 21 62
 
Stiff-Baby Syndrome 42 21
Sthe 42 21
Stiff-Person Syndrome, Congenital 42
Stiff-Man Syndrome, Congenital 42
Exaggerated Startle Reaction 42
Jumping Frenchmen of Maine 62
Hyperekplexia, Hereditary 19
Kok Disease 42


Classifications:

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


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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Drugs & Therapeutics for Hyperekplexia

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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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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:

32
Brain, Eye, Cortex, Heart

Animal Models for Hyperekplexia or affiliated genes

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MGI Mouse Phenotypes related to Hyperekplexia:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053699.1GARS, GLRB, GLRA1, SLC6A5
2MP:00053918.2GLRA2, GLRA1, GLRA3, GPHN
3MP:00053787.0GLRA1, GLRB, GARS, SLC6A5, GLRA2, MOCS1
4MP:00107686.8GLRB, SLC6A5, MOCS1, GLRA1, GPHN, GLRA2
5MP:00053866.5GPHN, ARHGEF9, SLC6A5, GARS, GABRG2, GLRA2
6MP:00036316.5GPHN, ARHGEF9, SLC6A5, GARS, GABRG2, GLRA2

Publications for Hyperekplexia

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Articles related to Hyperekplexia:

(show top 50)    (show all 159)
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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Clinvar genetic disease variations for Hyperekplexia:

6 (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 variantPathogenicrs121908539GRCh37Chr 14, 66975273: 66975273

Expression for genes affiliated with Hyperekplexia

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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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Pathways related to Hyperekplexia according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
flavin biosynthesis IV (mammalian)37
molybdenum cofactor biosynthesis37
coenzyme A biosynthesis37
thiamin salvage III37
alanine biosynthesis III37
thio-molybdenum cofactor biosynthesis37
biotin-carboxyl carrier protein assembly37
9.7MOCS1, GPHN
2
Show member pathways
9.5ARHGEF9, GABRG2
3
Show member pathways
8.1GLRA3, GLRB, GLRA1, GLRA4, GLRA2
4
Show member pathways
7.9GLRA3, GLRB, GLRA1, GLRA2, GABRG2
5
Show member pathways
7.1ARHGEF9, GLRA3, GLRB, GLRA1, GLRA4, GLRA2
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/GeneDecks:

(show all 36)
idCompoundScoreTop Affiliating Genes
1moco449.8GPHN, MOCS1
2molybdopterin44 2410.8MOCS1, GPHN
3pmba289.6GLRA1, GLRA2
4clonazepam44 1110.5GABRG2, GLRA1
5molybdenum44 2410.4GARS, MOCS1, GPHN
6nifedipine44 28 50 1112.4GLRA1, GLRB, GLRA3
7cyanotriphenylborate289.4GLRB, GLRA1, GLRA2
8ginkgolide x289.4GLRA2, GLRA1, GLRB
9colchicine44 61 2 28 1113.4GLRA2, GLRA1
10bilobalide289.4GLRA2, GLRA1, GLRB
11pregnenolone sulphate289.4GLRB, GLRA1, GLRA2
12win55212-2289.3GLRA2, GLRA3
13tropisetron28 4410.3GLRA2, GLRA1, GLRB
14nmda44 2810.2SLC6A5, GARS, GLRB, GPHN
15bicuculline44 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 44 6110.9GLRA3, GLRB, GLRA1, GLRA2
23lindane44 119.9GLRA2, GLRA1, GLRB, GLRA3
24zn2+288.9GLRA3, GLRB, GLRA1, GLRA2
25ethanol44 50 24 1111.6GARS, GLRA2, GLRA1
26hypotaurine61 44 2410.5GLRA3, GLRB, GLRA1, GLRA4, GLRA2
27l-serine61 28 24 1111.5GLRA3, GLRB, GLRA1, GLRA4, GLRA2
28l-alanine61 28 24 1111.5GLRA3, GLRB, GLRA1, GLRA4, GLRA2
29strychnine44 2 2810.5GARS, GLRA2, GLRA1, GLRA3, GPHN
30picrotoxinin2 44 2810.5GLRA3, GLRB, GLRA1, GLRA2, GARS
31picrotoxin44 28 1110.4GLRA3, GLRB, GLRA1, GLRA2, GARS
32gaba448.2GPHN, GLRA2, GABRG2, GARS, SLC6A5
33glycine28 24 1110.1GLRA3, GLRB, GLRA1, GLRA2, GARS, SLC6A5
34beta-alanine44 61 28 24 1112.1GARS, GLRA3, GLRB, GLRA1, GLRA4, GLRA2
35taurine44 61 2410.1GLRA3, GLRB, GLRA1, GLRA4, GLRA2, GARS
36chlorine44 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/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1chloride channel complexGO:0347077.6GABRG2, GLRA2, GLRA4, GLRA1, GLRB, GLRA3
2plasma membraneGO:0058867.3GLRA3, GLRB, GLRA1, GLRA2, GABRG2, SLC6A5
3integral component of plasma membraneGO:0058877.2GLRA3, GLRB, GLRA1, GLRA4, GLRA2, GABRG2
4postsynaptic membraneGO:0452117.2GPHN, GLRA3, GLRB, GLRA1, GLRA4, GLRA2
5cell junctionGO:0300547.1GPHN, 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
5molybdopterin cofactor biosynthetic processGO:0323249.9MOCS1, GPHN
6Mo-molybdopterin cofactor biosynthetic processGO:0067779.9GPHN, MOCS1
7adult walking behaviorGO:0076289.9GLRA1, GLRB
8regulation of membrane potentialGO:0423919.8GLRB, GLRA1
9vitamin metabolic processGO:0067669.7MOCS1, GPHN
10water-soluble vitamin metabolic processGO:0067679.4MOCS1, GPHN
11chloride transmembrane transportGO:19024769.3GLRB, GLRA1, GLRA2
12neuropeptide signaling pathwayGO:0072189.2GLRB, GLRA1, GLRA2
13ion transportGO:0068119.1GLRA2, GLRA1, GLRB
14synaptic transmissionGO:0072689.0ARHGEF9, SLC6A5, GABRG2, GLRB
15ion transmembrane transportGO:0342207.8ARHGEF9, GABRG2, GLRA2, GLRA1, GLRB, GLRA3
16transmembrane transportGO:0550857.5GLRA3, GLRB, GLRA1, GLRA2, GABRG2, SLC6A5

Molecular functions related to Hyperekplexia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1chloride channel activityGO:0052549.4GABRG2, GLRA4
2extracellular ligand-gated ion channel activityGO:0052309.1GABRG2, GLRA4
3transmitter-gated ion channel activityGO:0228248.4GLRA3, 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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Sources for Hyperekplexia

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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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet