MCID: HYP097
MIFTS: 52

Hyperekplexia malady

Genetic diseases, Rare diseases, Neuronal diseases, Metabolic diseases categories

Aliases & Classifications for Hyperekplexia

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

Aliases & Descriptions for Hyperekplexia:

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


Classifications:



Characteristics (Orphanet epidemiological data):

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


External Ids:

Orphanet51 3197
ICD10 via Orphanet28 G25.8

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 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 hyperekplexia, hereditary 1, autosomal dominant or recessive and sporadic hyperekplexia, and has symptoms including hypertonia, hyperreflexia and limitation of joint mobility. An important gene associated with Hyperekplexia is SLC6A5 (Solute Carrier Family 6 (Neurotransmitter Transporter), Member 5), and among its related pathways are Interferon Pathway and NgR-p75(NTR)-Mediated Signaling. Affiliated tissues include bone, brain and heart, and related mouse phenotypes are growth/size/body and mortality/aging.

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 hyperek

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 top 50)    (show all 57)
idRelated DiseaseScoreTop Affiliating Genes
1hyperekplexia, hereditary 1, autosomal dominant or recessive30.7GLRA1, GPHN
2sporadic hyperekplexia10.5
3hyperekplexia 2, autosomal recessive10.5
4hyperekplexia 310.4
5spastic paraparesis10.2
6arhgef9-related hyperekplexia10.2
7glra1-related hyperekplexia10.2
8glrb-related hyperekplexia10.2
9gphn-related hyperekplexia10.2
10slc6a5-related hyperekplexia10.2
11spasticity10.2
12epileptic encephalopathy, early infantile, 1710.1
13epileptic encephalopathy, early infantile, 810.1
14neuronitis10.1
15molybdenum cofactor deficiency10.1
16encephalopathy10.1
17gastroesophageal reflux10.1
18dyskinesia of esophagus10.1
19esophageal disease10.1
20gastrointestinal system disease10.1
21sleep disorder10.1
22dysphagia10.1
23swallowing disorders10.1
24jumping frenchmen of maine10.0
25autoimmune disease 110.0
26sudden infant death syndrome10.0
27trichohepatoenteric syndrome 210.0
28autoimmune disease 210.0
29small patella syndrome10.0
30sulfite oxidase deficiency10.0
31stiff-person syndrome10.0
32autoimmune disease of central nervous system10.0
33status epilepticus10.0
34cerebritis10.0
35pain disorder10.0
36inguinal hernia10.0
37obstructive sleep apnea10.0
38autoimmune disease of the nervous system10.0
39central nervous system disease10.0
40dental pulp disease10.0
41hypersensitivity reaction type ii disease10.0
42muscular dystrophy10.0
43nervous system disease10.0
44neuromuscular disease10.0
45sexual disorder10.0
46sleep apnea10.0
47spinal cord disease10.0
48neurologic diseases10.0
49central cord syndrome10.0
50startle epilepsy10.0

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

Drugs & Therapeutics for Hyperekplexia

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

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
rituximabapprovedPhase 21514174722-31-710201696
Synonyms:
AntiCD20
IDEC-102
IDEC-C2B8
 
Ig gamma-1 chain C region
MabThera
Mabthera
Rituxan
rituximab
2Rho(D) Immune GlobulinPhase 1198
3Immunoglobulins, IntravenousPhase 1203
4
Glycineapproved, nutraceutical10256-40-6750
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
5Glutamic AcidNutraceutical187

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 24 SLC6A5
2 Hyperekplexia Hereditary24

Anatomical Context for Hyperekplexia

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MalaCards organs/tissues related to Hyperekplexia:

33
Bone, Brain, Heart, Cortex, Eye

Animal Models for Hyperekplexia or affiliated genes

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MGI Mouse Phenotypes related to Hyperekplexia:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053787.4GABRG2, GARS, GLRA1, GLRB, MOCS1, SLC6A5
2MP:00107687.0GABRG2, GARS, GLRA1, GLRB, GPHN, MOCS1
3MP:00036316.9ARHGEF9, GABRG2, GARS, GLRA1, GLRB, GPHN
4MP:00053866.6ARHGEF9, GABRG2, GARS, GLRA1, GLRB, GPHN

Publications for Hyperekplexia

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Articles related to Hyperekplexia:

(show top 50)    (show all 163)
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
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:

5 (show all 40)
id Gene Variation Type Significance SNP ID Assembly Location
1GLRBNM_000824.4(GLRB): c.752G> A (p.Gly251Asp)single nucleotide variantPathogenicrs121909749GRCh37Chr 4, 158064959: 158064959
2GLRBNM_000824.4(GLRB): c.610+5G> Asingle nucleotide variantPathogenicrs281864922GRCh37Chr 4, 158058043: 158058043
3GLRA1NM_001146040.1(GLRA1): c.896G> T (p.Arg299Leu)single nucleotide variantPathogenicrs121918408GRCh37Chr 5, 151230967: 151230967
4GLRA1NM_001146040.1(GLRA1): c.896G> A (p.Arg299Gln)single nucleotide variantPathogenicrs121918408GRCh37Chr 5, 151230967: 151230967
5GLRA1NM_001146040.1(GLRA1): c.815T> A (p.Ile272Asn)single nucleotide variantPathogenicrs121918409GRCh37Chr 5, 151231048: 151231048
6GLRA1NM_001146040.1(GLRA1): c.920A> G (p.Tyr307Cys)single nucleotide variantPathogenicrs121918410GRCh37Chr 5, 151208621: 151208621
7GLRA1NM_001146040.1(GLRA1): c.882G> C (p.Gln294His)single nucleotide variantPathogenicrs121918411GRCh37Chr 5, 151230981: 151230981
8GLRA1NM_001146040.1(GLRA1): c.910A> G (p.Lys304Glu)single nucleotide variantPathogenicrs121918412GRCh37Chr 5, 151230953: 151230953
9GLRA1NM_001146040.1(GLRA1): c.832C> A (p.Pro278Thr)single nucleotide variantPathogenicrs121918413GRCh37Chr 5, 151231031: 151231031
10GLRA1NM_001146040.1(GLRA1): c.298delC (p.Arg100Alafs)deletionPathogenicrs281864915GRCh37Chr 5, 151239524: 151239524
11GLRA1NM_000171.3(GLRA1): c.523A> G (p.Met175Val)single nucleotide variantPathogenicrs121918414GRCh37Chr 5, 151235898: 151235898
12GLRA1NM_001146040.1(GLRA1): c.690C> A (p.Tyr230Ter)single nucleotide variantPathogenicrs121918415GRCh37Chr 5, 151234608: 151234608
13GLRA1NM_001146040.1(GLRA1): c.862G> A (p.Val288Met)single nucleotide variantPathogenicrs121918416GRCh37Chr 5, 151231001: 151231001
14GLRA1NM_001146040.1(GLRA1): c.777C> G (p.Ser259Arg)single nucleotide variantPathogenicrs121918417GRCh37Chr 5, 151231086: 151231086
15GLRA1NM_001146040.1(GLRA1): c.(?_-287)_(912+?)deldeletionPathogenic
16GLRA1NM_001146040.1(GLRA1): c.971C> A (p.Ser324Ter)single nucleotide variantPathogenicrs121918418GRCh37Chr 5, 151208570: 151208570
17GLRA1NM_001146040.1(GLRA1): c.884G> A (p.Ser295Asn)single nucleotide variantPathogenicrs267606848GRCh37Chr 5, 151230979: 151230979
18GLRBNM_000824.4(GLRB): c.596T> G (p.Met199Arg)single nucleotide variantPathogenicrs398122856GRCh37Chr 4, 158058024: 158058024
19SLC6A5NM_004211.3(SLC6A5): c.1530T> G (p.Ser510Arg)single nucleotide variantPathogenicrs281864926GRCh37Chr 11, 20652267: 20652267
20GLRA1NM_001146040.1(GLRA1): c.1132G> A (p.Gly378Ser)single nucleotide variantPathogenicrs116474260GRCh37Chr 5, 151202476: 151202476
21GLRA1NM_001146040.1(GLRA1): c.299G> A (p.Arg100His)single nucleotide variantPathogenicrs281864914GRCh37Chr 5, 151239523: 151239523
22GLRA1NM_001146040.1(GLRA1): c.737G> A (p.Arg246Gln)single nucleotide variantPathogenicrs281864916GRCh37Chr 5, 151231126: 151231126
23GLRA1NM_001146040.1(GLRA1): c.801G> C (p.Trp267Cys)single nucleotide variantPathogenicrs281864917GRCh37Chr 5, 151231062: 151231062
24GLRA1NM_001146040.1(GLRA1): c.892T> A (p.Ser298Thr)single nucleotide variantPathogenicrs281864920GRCh37Chr 5, 151230971: 151230971
25GLRA1NM_001146040.1(GLRA1): c.920A> C (p.Tyr307Ser)single nucleotide variantPathogenicrs121918410GRCh37Chr 5, 151208621: 151208621
26GLRA1NM_001146040.1(GLRA1): c.921delT (p.Tyr307Terfs)deletionPathogenicrs281864921GRCh37Chr 5, 151208620: 151208620
27GLRA1NM_000171.3(GLRA1): c.1030C> T (p.Arg344Ter)single nucleotide variantPathogenicrs281864913GRCh37Chr 5, 151208511: 151208511
28GLRA1NM_001146040.1(GLRA1): c.298delC (p.Arg100Alafs)deletionPathogenicrs281864915GRCh37Chr 5, 151239524: 151239524
29GLRA1NM_000171.3(GLRA1): c.1259G> A (p.Arg420His)single nucleotide variantPathogenicrs281864919GRCh37Chr 5, 151202325: 151202325
30SLC6A5NM_004211.3(SLC6A5): c.1444T> C (p.Trp482Arg)single nucleotide variantPathogenicrs281864925GRCh37Chr 11, 20649574: 20649574
31SLC6A5NM_004211.3(SLC6A5): c.323delC (p.Pro108Leufs)deletionPathogenicrs281864923GRCh37Chr 11, 20622994: 20622994
32GLRA1NM_000171.3(GLRA1): c.(?_-287)_697+?deldeletionPathogenicGRCh38Chr 5, 151855040: 151924836
33SLC6A5NM_004211.3(SLC6A5): c.1131C> A (p.Tyr377Ter)single nucleotide variantPathogenicrs121908493GRCh37Chr 11, 20639301: 20639301
34SLC6A5NM_004211.3(SLC6A5): c.1294delGinsTT (p.Val432Phefs)indelPathogenicrs281864924GRCh37Chr 11, 20648287: 20648287
35SLC6A5NM_004211.3(SLC6A5): c.1472A> G (p.Tyr491Cys)single nucleotide variantPathogenicrs121908494GRCh37Chr 11, 20649602: 20649602
36SLC6A5NM_004211.3(SLC6A5): c.1888C> T (p.Gln630Ter)single nucleotide variantPathogenicrs121908495GRCh37Chr 11, 20660023: 20660023
37SLC6A5NM_004211.3(SLC6A5): c.916C> G (p.Leu306Val)single nucleotide variantPathogenicrs121908496GRCh37Chr 11, 20629129: 20629129
38SLC6A5NM_004211.3(SLC6A5): c.1526A> G (p.Asn509Ser)single nucleotide variantPathogenicrs121908497GRCh37Chr 11, 20652263: 20652263
39SLC6A5NM_004211.3(SLC6A5): c.1274C> T (p.Thr425Met)single nucleotide variantPathogenicrs121908498GRCh37Chr 11, 20648267: 20648267
40GPHNNM_020806.4(GPHN): c.28A> T (p.Asn10Tyr)single nucleotide variantPathogenicrs121908539GRCh37Chr 14, 66975273: 66975273

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 pathways (with members indented)ScoreTop Affiliating Genes
19.6ARHGEF9, SLC6A5
29.6ARHGEF9, SLC6A5
39.6ARHGEF9, SLC6A5
4
Show member pathways
8.3ARHGEF9, GABRG2, GLRA1, GLRB
5
Show member pathways
8.3ARHGEF9, GABRG2, GLRA1, GLRB
6
Show member pathways
8.0ARHGEF9, 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
1chloride channel complexGO:00347079.3GABRG2, GLRA1, GLRB
2neuron projectionGO:00430059.1GABRG2, GLRA1, GLRB
3synapseGO:00452028.6GABRG2, GLRA1, GLRB
4postsynaptic membraneGO:00452118.4GABRG2, GLRA1, GLRB, GPHN
5cell junctionGO:00300548.3GABRG2, GLRA1, GLRB, GPHN

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

(show all 19)
idNameGO IDScoreTop Affiliating Genes
1startle responseGO:000196410.3GLRA1, GLRB
2acrosome reactionGO:000734010.3GLRA1, GLRB
3righting reflexGO:006001310.3GLRA1, GLRB
4neuromuscular processGO:005090510.2GLRA1, GLRB
5Mo-molybdopterin cofactor biosynthetic processGO:000677710.2GPHN, MOCS1
6molybdopterin cofactor biosynthetic processGO:003232410.2GPHN, MOCS1
7adult walking behaviorGO:000762810.0GLRA1, GLRB
8synaptic transmission, glycinergicGO:006001210.0GLRA1, GLRB, SLC6A5
9response to amino acidGO:004320010.0GLRA1, GLRB
10chloride transportGO:00068219.7GABRG2, GLRA1
11vitamin metabolic processGO:00067669.6GPHN, MOCS1
12water-soluble vitamin metabolic processGO:00067679.6GPHN, MOCS1
13chloride transmembrane transportGO:19024769.3GABRG2, GLRA1, GLRB
14ion transportGO:00068119.2GABRG2, GLRA1, GLRB
15regulation of membrane potentialGO:00423918.9GABRG2, GLRA1, GLRB
16ion transmembrane transportGO:00342208.7ARHGEF9, GABRG2, GLRA1, GLRB
17transportGO:00068108.7GABRG2, GLRA1, GLRB, SLC6A5
18transmembrane transportGO:00550858.2ARHGEF9, GABRG2, GLRA1, GLRB, SLC6A5
19synaptic transmissionGO:00072687.7ARHGEF9, GABRG2, GLRA1, GLRB, SLC6A5

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

idNameGO IDScoreTop Affiliating Genes
1extracellular-glycine-gated chloride channel activityGO:001693410.0GLRA1, GLRB
2glycine bindingGO:00165949.9GLRA1, GLRB
3extracellular ligand-gated ion channel activityGO:00052308.9GABRG2, GLRA1, 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