MCID: HYP097
MIFTS: 54

Hyperekplexia malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Metabolic diseases

Aliases & Classifications for Hyperekplexia

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Sources:
65UMLS, 21GeneReviews, 22GeneTests, 23Genetics Home Reference, 47Novoseek, 51Orphanet, 24GTR, 45NIH Rare Diseases, 28ICD10 via Orphanet
See all MalaCards sources

Aliases & Descriptions for Hyperekplexia:

Name: Hyperekplexia 21 22 23 47 51 24
Hereditary Hyperekplexia 45 23 51 24
Startle Disease, Familial 21 45 22
Startle Syndrome 21 22 23
Hyperekplexia, Hereditary 21 22
Hereditary Hyperexplexia 51 65
Stiff-Baby Syndrome 45 23
Kok Disease 45 51
Sthe 45 23
Stiff-Person Syndrome, Congenital 45
Congenital Stiff-Person Syndrome 23
 
Stiff-Man Syndrome, Congenital 45
Congenital Stiff-Man Syndrome 23
Congenital Stiff Man Syndrome 51
Startle Reaction, Exaggerated 45
Exaggerated Startle Reaction 45
Hyperexplexia Hereditary 45
Familial Startle Disease 51
Familial Hyperekplexia 23
Stiff-Person Syndrome 65
Stiff Baby Syndrome 51

Characteristics:

Orphanet epidemiological data:

51
hyperekplexia:
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal

Classifications:



External Ids:

Orphanet51 3197
ICD10 via Orphanet28 G25.8
UMLS65 C1835614

Summaries for Hyperekplexia

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NIH Rare Diseases:45 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 condition may explain some cases of sudden infant death syndrome (sids). stiffness 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. treatment is mainly with the use of the drug clonazepam which is very effective in reducing symptoms. last updated: 2/19/2016

MalaCards based summary: Hyperekplexia, also known as hereditary hyperekplexia, is related to hyperekplexia 2, autosomal recessive and hyperekplexia 3, and has symptoms including hypertonia, hyperreflexia and limitation of joint mobility. An important gene associated with Hyperekplexia is SLC6A5 (Solute Carrier Family 6 Member 5), and among its related pathways are Interferon Pathway and NgR-p75(NTR)-Mediated Signaling. Affiliated tissues include bone, endothelial and prostate, and related mouse phenotypes are nervous system and behavior/neurological.

Genetics Home Reference:23 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:68 Hyperekplexia (\"exaggerated surprise\") is a neurologic disorder classically characterised by... more...

GeneReviews summary for NBK1260

Related Diseases for Hyperekplexia

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Diseases in the Hyperekplexia family:

Hyperekplexia 2, Autosomal Recessive Hyperekplexia, Hereditary 1, Autosomal Dominant or Recessive
Hyperekplexia 3 Arhgef9-Related Hyperekplexia
Glra1-Related Hyperekplexia Glrb-Related Hyperekplexia
Gphn-Related Hyperekplexia Slc6a5-Related Hyperekplexia
Sporadic Hyperekplexia

Diseases related to Hyperekplexia via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 33)
idRelated DiseaseScoreTop Affiliating Genes
1hyperekplexia 2, autosomal recessive12.1
2hyperekplexia 312.1
3hyperekplexia, hereditary 1, autosomal dominant or recessive12.1
4sporadic hyperekplexia12.0
5arhgef9-related hyperekplexia11.8
6glra1-related hyperekplexia11.8
7glrb-related hyperekplexia11.8
8gphn-related hyperekplexia11.8
9slc6a5-related hyperekplexia11.8
10epileptic encephalopathy, early infantile, 811.3
11epileptic encephalopathy, early infantile, 1711.0
12molybdenum cofactor deficiency10.5
13spastic paraparesis10.1
14spasticity10.1
15neuronitis10.0
16encephalopathy10.0
17glycine encephalopathy9.8GARS, SLC6A5
18sudden infant death syndrome9.8
19sulfite oxidase deficiency9.8
20sleep apnea9.8
21obstructive sleep apnea9.8
22inguinal hernia9.8
23microcephaly9.8
24status epilepticus9.8
25cerebritis9.8
26muscular dystrophy9.8
27intellectual disability9.8
28startle epilepsy9.8
29isolated sulfite oxidase deficiency9.8
30deafness, autosomal recessive 1019.7GLRA1, GPHN
31tinea profunda9.6GLRA1, GLRB, GPHN
32momo syndrome9.1GLRA1, GPHN, MOCS1
33hypomyelination and congenital cataract7.0ARHGEF9, GABRG2, GARS, GLRA1, GLRB, GPHN

Graphical network of the top 20 diseases related to Hyperekplexia:



Diseases related to hyperekplexia

Symptoms for Hyperekplexia

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Symptoms:

 51 (show all 18)
  • gastroesophageal reflux/pyrosis/esophagitis/hiatal hernia/gastroparesia
  • ataxia/incoordination/trouble of the equilibrium
  • movement disorder
  • myoclonus/fasciculations
  • hypertonia/spasticity/rigidity/stiffness
  • hypereflexia
  • restricted joint mobility/joint stiffness/ankylosis
  • autosomal dominant inheritance
  • autosomal recessive inheritance
  • inguinal/inguinoscrotal/crural hernia
  • umbilical hernia
  • abnormal gait
  • sleep and vigilance disorders
  • death in infancy
  • seizures/epilepsy/absences/spasms/status epilepticus
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • joint dislocation/subluxation
  • hip dislocation/dysplasia/coxa valga/coxa vara/coxa plana

HPO human phenotypes related to Hyperekplexia:

(show all 12)
id Description Frequency HPO Source Accession
1 hypertonia hallmark (90%) HP:0001276
2 hyperreflexia hallmark (90%) HP:0001347
3 limitation of joint mobility hallmark (90%) HP:0001376
4 incoordination hallmark (90%) HP:0002311
5 involuntary movements hallmark (90%) HP:0004305
6 gait disturbance typical (50%) HP:0001288
7 umbilical hernia typical (50%) HP:0001537
8 sleep disturbance typical (50%) HP:0002360
9 seizures occasional (7.5%) HP:0001250
10 joint dislocation occasional (7.5%) HP:0001373
11 abnormality of the hip bone occasional (7.5%) HP:0003272
12 cognitive impairment occasional (7.5%) HP:0100543

UMLS symptoms related to Hyperekplexia:


myoclonus, muscle rigidity, nuchal rigidity, anal sphincter atony, abnormal muscle tone, increased sweating, drop attack, hyperexplexia, opisthotonus, cogwheel rigidity, torticollis, muscle spasticity

Drugs & Therapeutics for Hyperekplexia

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Drugs for Hyperekplexia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 12)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
rituximabapprovedPhase 21582174722-31-710201696
Synonyms:
AntiCD20
IDEC-102
IDEC-C2B8
 
Ig gamma-1 chain C region
MabThera
Mabthera
Rituxan
rituximab
2AntibodiesPhase 2, Phase 14477
3Antibodies, MonoclonalPhase 22413
4Immunologic FactorsPhase 2, Phase 118483
5ImmunoglobulinsPhase 2, Phase 14477
6Antirheumatic AgentsPhase 28496
7Rho(D) Immune GlobulinPhase 1206
8Immunoglobulins, IntravenousPhase 1211
9
Glycineapproved, nutraceutical9456-40-6750
Synonyms:
(1-13c)glycinato
(15N)Glycine
15527_RIEDEL
15527_SIAL
15743-44-9 (mono-potassium salt)
17829-66-2 (cobalt salt)
18875-39-3
2,2-dialkylglycines
2-Aminoacetate
2-Aminoacetic acid
2311-65-1
25718-94-9
29728-27-6 (monoammonium salt)
32817-15-5 (copper salt)
33226_RIEDEL
33226_SIAL
33242-26-1 (calcium salt)
35947-07-0 (calcium salt (2:1))
410225_SIAL
50046_FLUKA
50046_SIGMA
513-29-1 (sulfate (3:1))
52955-63-2
56-40-6
57678-19-0
6000-43-7 (hydrochloride)
6000-44-8 (mono-hydrochloride salt)
63183-41-5 (hydrochloride hydrogen carbonate)
71295-98-2 (phosphate (1:1))
7490-95-1 (hydrochloride (2:1)
7490-95-1 (hydrochloride (2:1))
7575-55-5
848646-45-7
87867-94-5
AB-131/40217813
AB1002628
AC1L19XW
AC1Q28JW
AC1Q53O0
AI3-04085
AKOS000119626
AMINOACETIC ACID 1.5% IN PLASTIC CONTAINER
AR-1A0345
AR-1A0532
Acide aminoacetique
Acide aminoacetique [INN-French]
Acido aminoacetico
Acido aminoacetico [INN-Spanish]
Acidum aminoaceticum
Acidum aminoaceticum [INN-Latin]
Aciport
Amino-Acetate
Amino-Acetic acid
Aminoacetate
Aminoacetic acid
Aminoazijnzuur
Aminoessigsaeure
Aminoethanoate
Aminoethanoic acid
Amitone
B72BA06C-60E9-4A83-A24A-A2D7F465BB65
BPBio1_001222
Biomol-NT_000195
C00037
CCRIS 5915
CHEBI:15428
CHEBI:15705
CHEBI:16228
CHEMBL773
CID750
CPD-8569
Corilin
D00011
DB00145
EINECS 200-272-2
 
FEMA No. 3287
FT-0083159
G
G0099
G0317
G5417_SIGMA
G5523_SIGMA
G7126_SIGMA
G7403_SIGMA
G8790_SIGMA
G8898_SIGMA
GLY (IUPAC abbrev)
GLYCINE 1.5% IN PLASTIC CONTAINER
GLYCINE, ACS
Glicina
Glicina [INN-Spanish]
Glicoamin
Gly
Glycin
Glycine
Glycine (JP15/USP)
Glycine [INN]
Glycine iron sulphate (1:1)
Glycine, homopolymer (VAN)
Glycine, labeled with carbon-14
Glycine, non-medical
Glycine-UL-14C hydrochloride
Glycinum
Glycinum [INN-Latin]
Glycocoll
Glycolixir
Glycosthene
Glykokoll
Glyzin
Gyn-Hydralin
Gyn-hydralin
H-Gly-OH
H2N-CH2-COOH
HSDB 495
Hampshire glycine
Hgly
InChI=1/C2H5NO2/c3-1-2(4)5/h1,3H2,(H,4,5
KST-1A2919
KST-1A8102
L-Glycine
L-alpha-amino acids
L001246
LS-218
Leimzucker
MolPort-000-871-607
NCGC00024503-01
NCGC00024503-02
NChemBio.2007.13-comp1
NSC 25936
NSC25936
P8791_SIGMA
Padil
Polyglycine II
S04-0135
Sucre de gelatine
Tocris-0219
UNII-TE7660XO1C
W328707_ALDRICH
WLN: Z1VQ
aminoacetic acid
an alpha amino acid ester
bmse000089
gly
glycine
nchem.554-comp2
nchembio.121-comp9
nchembio.145-comp33
nchembio.198-comp12
nchembio.265-comp9
nchembio.266-comp30
polyglycine
10Autoantibodies117
11Neurotransmitter Agents14795
12Glutamic AcidNutraceutical201

Interventional clinical trials:

idNameStatusNCT IDPhase
1Rituximab to Treat Stiff Person SyndromeCompletedNCT00091897Phase 2
2Stem Cell Transplantation for Stiff Person Syndrome (SPS)RecruitingNCT02282514Phase 1, Phase 2
3Intravenous Immunoglobulin (IVIg) for the Treatment of Stiff-Man Syndrome (SMS)CompletedNCT00001550Phase 1
4Cause, Development, and Progression of Stiff-Person SyndromeCompletedNCT00030940
5Effects of Mutations of the Glycine Gene Associated With Hyperekplexia on Central Pain ProcessingTerminatedNCT01476514

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 Hyperekplexia22 SLC6A5

Anatomical Context for Hyperekplexia

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MalaCards organs/tissues related to Hyperekplexia:

33
Bone, Endothelial, Prostate, Lung, B cells, Heart, Pituitary

Animal Models for Hyperekplexia or affiliated genes

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MGI Mouse Phenotypes related to Hyperekplexia:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00036317.2ARHGEF9, GABRG2, GARS, GLRA1, GLRB, GPHN
2MP:00053866.9ARHGEF9, GABRG2, GARS, GLRA1, GLRB, GPHN

Publications for Hyperekplexia

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Articles related to Hyperekplexia:

(show top 50)    (show all 166)
idTitleAuthorsYear
1
Anesthetic management of a parturient with hyperekplexia. (25867194)
2015
2
Molecular basis of the dominant negative effect of a glycine transporter 2 mutation associated with hyperekplexia. (25480793)
2015
3
Disturbed neuronal ER-Golgi sorting of unassembled glycine receptors suggests altered subcellular processing is a cause of human hyperekplexia. (25568133)
2015
4
The impact of human hyperekplexia mutations on glycine receptor structure and function. (24405574)
2014
5
Sporadic hyperekplexia presenting with an ataxic gait. (24054400)
2014
6
A 14-year-old girl with hyperekplexia having GLRB mutations. (23182654)
2013
7
The GLRA1 missense mutation W170S associates lack of Zn2+ potentiation with human hyperekplexia. (24198360)
2013
8
Novel mutation of GLRA1 in Omani families with hyperekplexia and mild mental retardation. (22264702)
2012
9
Hyperekplexia: treatment of a severe phenotype and review of the literature. (21515498)
2011
10
I^ Subunit M2-M3 loop conformational changes are uncoupled from I+1 I^ glycine receptor channel gating: implications for human hereditary hyperekplexia. (22132222)
2011
11
Hyperekplexia masquerading as epilepsy. (21222052)
2011
12
Sinus node paucity in hyperekplexia. (21220806)
2010
13
Recessive hyperekplexia mutations of the glycine receptor alpha1 subunit affect cell surface integration and stability. (19732286)
2009
14
Identification of a de novo Lys304Gln mutation in the glycine receptor alpha-1 subunit gene in a Korean infant with hyperekplexia. (18175347)
2008
15
Bilateral inguinal hernia repair in a child with hyperekplexia. (17897277)
2007
16
Clinical and inheritance profiles of hyperekplexia in Jordan. (17715287)
2007
17
A novel GLRA1 mutation in a recessive hyperekplexia pedigree. (17534957)
2007
18
Two Japanese families with hyperekplexia who have a Arg271Gln mutation in the glycine receptor alpha 1 subunit gene. (16478653)
2006
19
Molybdenum cofactor deficiency presenting as neonatal hyperekplexia: a clinical, biochemical and genetic study. (16429380)
2005
20
Familial hyperekplexia and refractory status epilepticus: a new autosomal recessive syndrome. (15526957)
2004
21
Late onset hyperekplexia. (15504715)
2004
22
Frontal lobe dysfunction in sporadic hyperekplexia--case study and literature review. (14999495)
2004
23
Two novel mutations of the glycine receptor gene in a Taiwanese hyperekplexia family. (15365143)
2004
24
Magnetic resonance spectroscopy of cerebral cortex is normal in hereditary hyperekplexia due to mutations in the GLRA1 gene. (14673895)
2003
25
Hyperekplexia (startle disease): a novel mutation (S270T) in the M2 domain of the GLRA1 gene and a molecular review of the disorder. (14580232)
2003
26
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
27
Hyperekplexia mutation of glycine receptors: decreased gating efficacy with altered binding thermodynamics. (12123749)
2002
28
Hyperekplexia associated with compound heterozygote mutations in the beta-subunit of the human inhibitory glycine receptor (GLRB). (11929858)
2002
29
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
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
Novel GLRA1 missense mutation (P250T) in dominant hyperekplexia defines an intracellular determinant of glycine receptor channel gating. (9920650)
1999
34
Hyperekplexia phenotype due to compound heterozygosity for GLRA1 gene mutations. (10514101)
1999
35
Hyperekplexia in a patient with a brainstem vascular anomaly. (10225359)
1999
36
Hyperekplexia: a rare differential of neonatal fits described in a developing country. (10716028)
1999
37
The effects of clonazepam and vigabatrin in hyperekplexia. (9168167)
1997
38
A novel mutation (Gln266-->His) in the alpha 1 subunit of the inhibitory glycine-receptor gene (GLRA1) in hereditary hyperekplexia. (8571969)
1996
39
Analysis of GLRA1 in hereditary and sporadic hyperekplexia: a novel mutation in a family cosegregating for hyperekplexia and spastic paraparesis. (8733061)
1996
40
The startle pattern in the minor form of hyperekplexia. (8929168)
1996
41
A GLRA1 null mutation in recessive hyperekplexia challenges the functional role of glycine receptors. (8651283)
1996
42
Mutational analysis of familial and sporadic hyperekplexia. (7611730)
1995
43
Somatosensory evoked potentials and hyperekplexia outcome. (7746224)
1995
44
Complete heart block in nonfamilial hyperekplexia. (7779213)
1995
45
Hyperekplexia as cause of abnormal intrauterine movements. (7853985)
1995
46
Startle disease or hyperekplexia. (8224555)
1993
47
Genetic and radiation hybrid mapping of the hyperekplexia region on chromosome 5q. (1334371)
1992
48
Startle disorders of man: hyperekplexia, jumping and startle epilepsy. (3064625)
1988
49
Startle disease or hyperekplexia: further delineation of the syndrome. (6777025)
1980
50

Variations for Hyperekplexia

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Expression for genes affiliated with Hyperekplexia

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Search GEO for disease gene expression data for Hyperekplexia.

Pathways for genes affiliated with Hyperekplexia

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Pathways related to Hyperekplexia according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
19.6ARHGEF9, SLC6A5
29.6ARHGEF9, SLC6A5
39.6ARHGEF9, SLC6A5
4
Show member pathways
8.6ARHGEF9, GABRG2, GLRA1, GLRB
5
Show member pathways
8.6ARHGEF9, GABRG2, GLRA1, GLRB
6
Show member pathways
8.3ARHGEF9, GABRG2, GLRA1, GLRB, SLC6A5

GO Terms for genes affiliated with Hyperekplexia

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Cellular components related to Hyperekplexia according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1dendriteGO:00304259.2GLRA1, GLRB, GPHN

Biological processes related to Hyperekplexia according to GeneCards Suite gene sharing:

(show all 11)
idNameGO IDScoreTop Affiliating Genes
1synaptic transmission, glycinergicGO:006001210.4GLRA1, GLRB
2righting reflexGO:006001310.4GLRA1, GLRB
3startle responseGO:000196410.2GLRA1, GLRB
4neuropeptide signaling pathwayGO:000721810.2GLRA1, GLRB
5adult walking behaviorGO:000762810.2GLRA1, GLRB
6response to amino acidGO:004320010.1GLRA1, GLRB
7chloride transportGO:000682110.0GABRG2, GLRA1
8protein heterooligomerizationGO:00512919.7GLRA1, GLRB
9transportGO:00068109.3GLRA1, GLRB, SLC6A5
10synaptic transmissionGO:00072688.9ARHGEF9, GLRA1, GLRB
11transmembrane transportGO:00550858.5ARHGEF9, GABRG2, GLRA1, GLRB, SLC6A5

Molecular functions related to Hyperekplexia according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1glycine bindingGO:001659410.0GLRA1, GLRB
2extracellular ligand-gated ion channel activityGO:00052309.7GLRA1, GLRB

Sources for Hyperekplexia

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet