MCID: HYP097
MIFTS: 57

Hyperekplexia

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

Aliases & Classifications for Hyperekplexia

MalaCards integrated aliases for Hyperekplexia:

Name: Hyperekplexia 12 72 23 24 55 36 28 51 14
Hereditary Hyperekplexia 12 49 24 55
Kok Disease 12 49 55
Congenital Stiff Man Syndrome 12 55
Startle Disease, Familial 23 49
Familial Startle Disease 12 55
Hereditary Hyperexplexia 55 69
Stiff-Baby Syndrome 49 24
Startle Syndrome 23 24
Sthe 49 24
Stiff-Person Syndrome, Congenital 49
Congenital Stiff-Person Syndrome 24
Stiff-Man Syndrome, Congenital 49
Startle Reaction, Exaggerated 49
Congenital Stiff-Man Syndrome 24
Exaggerated Startle Reaction 49
Hyperekplexia, Hereditary 23
Hyperexplexia Hereditary 49
Hyperekplexia Hereditary 28
Familial Hyperekplexia 24
Stiff-Person Syndrome 69
Stiff Baby Syndrome 55
Startle Disease 12

Characteristics:

Orphanet epidemiological data:

55
hereditary hyperekplexia
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

GeneReviews:

23
Penetrance Overall, the penetrance of hyperekplexia is 100%; however, in one family a mother who had the same variant as her two affected children was asymptomatic [kwok et al 2001]...

Classifications:



Summaries for Hyperekplexia

NIH Rare Diseases : 49 Hereditary hyperekplexia is a nervous system disorder (neurological disorder), that is usually noticed shortly after birth. Symptoms in a newborn include generalized muscle stiffness while awake (hypertonia) and exaggerated startle reflex to unexpected loud noises, visual stimuli, or touch. Following the startle reaction, infants experience a brief period in which they are very rigid and are unable to move. During these rigid periods, some infants may stop breathing (apnea), which can be fatal and has been associated with sudden infant death syndrome (SIDS). Muscle stiffness usually fades completely during the first few years of life. However the exaggerated startle reflex and periods of rigidity may continue throughout a person's life. Depending on the severity of the continued symptoms, a child or adult with hereditary hyperekplexia may have an increased risk of falling or otherwise injuring themselves. In some cases, children with hereditary hyperekplexia may have mild developmental delays.Abdominal hernias and congenital dislocation of the hip have also been associated with hereditary hyperekplexia. Diagnosis of hereditary hyperekplexia requires the three main features: generalized stiffness immediately after birth, excessive startle reflex to unexpected stimuli, and a short period of generalized stiffness following the startle response. Of note, the results of routine blood tests, urinalysis, brain imaging studies, or EEG are usually normal. Hereditary hyperekplexia has different inheritance patterns and is associated with changes (mutations) in at least five genes. Genetic testing is available to detect the genetic changes.Clonazepam is the most commonly used treatment and successfully reduces symptoms in most people. Last updated: 11/8/2017

MalaCards based summary : Hyperekplexia, also known as hereditary hyperekplexia, is related to molybdenum cofactor deficiency and hyperekplexia 2, and has symptoms including ataxia, spasticity and myoclonus. An important gene associated with Hyperekplexia is GLRA1 (Glycine Receptor Alpha 1), and among its related pathways/superpathways are Neuroactive ligand-receptor interaction and Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds. The drugs Glycine and Neurotransmitter Agents have been mentioned in the context of this disorder. Affiliated tissues include brain, testes and heart, and related phenotypes are Increased vaccinia virus (VACV) infection and behavior/neurological

Genetics Home Reference : 24 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.

Disease Ontology : 12 A nervous system disease characterized by an exaggerated startle response to sudden, unexpected auditory or tactile stimuli and hypertonia.

Wikipedia : 72 Hyperekplexia (\"exaggerated surprise\") is a neurologic disorder classically characterised by... more...

GeneReviews: NBK1260

Related Diseases for Hyperekplexia

Diseases in the Hyperekplexia family:

Hyperekplexia, Hereditary 1 Hyperekplexia 3
Hyperekplexia 2 Hyperekplexia 1
Sporadic Hyperekplexia

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

(show all 35)
# Related Disease Score Top Affiliating Genes
1 molybdenum cofactor deficiency 32.1 GLRA1 GPHN MOCS1
2 hyperekplexia 2 12.3
3 hyperekplexia 3 12.3
4 hyperekplexia, hereditary 1 12.3
5 hyperekplexia 1 12.2
6 sporadic hyperekplexia 12.0
7 epileptic encephalopathy, early infantile, 8 11.7
8 charcot-marie-tooth disease, axonal, type 2d 10.3 GARS GPHN
9 stiff-person syndrome 10.2 GLRA1 GPHN
10 infancy electroclinical syndrome 10.1 GABRG2 TBC1D24
11 adolescence-adult electroclinical syndrome 10.1 GABRG2 TBC1D24
12 childhood electroclinical syndrome 10.0 GABRG2 TBC1D24
13 spastic paraparesis 10.0
14 encephalopathy 10.0
15 spasticity 10.0
16 microcephaly 9.9
17 epilepsy 9.9
18 neuronitis 9.9
19 epileptic encephalopathy, early infantile, 6 9.9 GABRG2 SCN9A TBC1D24
20 unverricht-lundborg syndrome 9.9 GLRA1 TBC1D24
21 generalized epilepsy with febrile seizures plus 9.8 GABRG2 SCN9A TBC1D24
22 apnea, obstructive sleep 9.8
23 atrial standstill 1 9.8
24 multiple sclerosis 9.8
25 sudden infant death syndrome 9.8
26 sulfite oxidase deficiency, isolated 9.8
27 muscular dystrophy, congenital, lmna-related 9.8
28 episodic pain syndrome, familial, 1 9.8
29 alacrima, achalasia, and mental retardation syndrome 9.8
30 sleep apnea 9.8
31 inguinal hernia 9.8
32 status epilepticus 9.8
33 cerebritis 9.8
34 muscular dystrophy 9.8
35 startle epilepsy 9.8

Graphical network of the top 20 diseases related to Hyperekplexia:



Diseases related to Hyperekplexia

Symptoms & Phenotypes for Hyperekplexia

Human phenotypes related to Hyperekplexia:

55 31 (show all 21)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ataxia 55 31 hallmark (90%) Very frequent (99-80%) HP:0001251
2 spasticity 55 31 hallmark (90%) Very frequent (99-80%) HP:0001257
3 myoclonus 55 31 hallmark (90%) Very frequent (99-80%) HP:0001336
4 hyperreflexia 55 31 hallmark (90%) Very frequent (99-80%) HP:0001347
5 joint stiffness 55 31 hallmark (90%) Very frequent (99-80%) HP:0001387
6 gastroesophageal reflux 55 31 hallmark (90%) Very frequent (99-80%) HP:0002020
7 hiatus hernia 55 31 hallmark (90%) Very frequent (99-80%) HP:0002036
8 rigidity 55 31 hallmark (90%) Very frequent (99-80%) HP:0002063
9 fasciculations 55 31 hallmark (90%) Very frequent (99-80%) HP:0002380
10 muscle stiffness 55 31 hallmark (90%) Very frequent (99-80%) HP:0003552
11 esophagitis 55 31 hallmark (90%) Very frequent (99-80%) HP:0100633
12 gait disturbance 55 31 frequent (33%) Frequent (79-30%) HP:0001288
13 umbilical hernia 55 31 frequent (33%) Frequent (79-30%) HP:0001537
14 sleep disturbance 55 31 frequent (33%) Frequent (79-30%) HP:0002360
15 intellectual disability 55 31 occasional (7.5%) Occasional (29-5%) HP:0001249
16 seizures 55 31 occasional (7.5%) Occasional (29-5%) HP:0001250
17 hip dislocation 55 31 occasional (7.5%) Occasional (29-5%) HP:0002827
18 hypertonia 55 Very frequent (99-80%)
19 abnormality of movement 55 Very frequent (99-80%)
20 hernia 55 Frequent (79-30%)
21 joint dislocation 55 Occasional (29-5%)

UMLS symptoms related to Hyperekplexia:


myoclonus, muscle rigidity, increased sweating, hyperexplexia, opisthotonus, fever

GenomeRNAi Phenotypes related to Hyperekplexia according to GeneCards Suite gene sharing:

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased vaccinia virus (VACV) infection GR00249-S 9.55 ADRA1D ARHGEF9 ASNS DPP6 GABRG2 GARS

MGI Mouse Phenotypes related to Hyperekplexia:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.13 SLC7A10 ADRA1D ARHGEF9 ASNS GABRG2 GARS
2 growth/size/body region MP:0005378 9.96 SLC7A10 ASNS GABRG2 GARS GLRA1 GLRB
3 mortality/aging MP:0010768 9.9 GABRG2 GARS GLRA1 GLRB GPHN SCN9A
4 muscle MP:0005369 9.5 ADRA1D GARS GLRA1 GLRB SLC6A5 SLC6A9
5 nervous system MP:0003631 9.47 ADRA1D ARHGEF9 ASNS DPP6 GABRG2 GARS

Drugs & Therapeutics for Hyperekplexia

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


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Glycine Approved, Nutraceutical, Vet_approved 56-40-6 750
2 Neurotransmitter Agents

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Effects of Mutations of the Glycine Gene Associated With Hyperekplexia on Central Pain Processing Terminated NCT01476514

Search NIH Clinical Center for Hyperekplexia

Genetic Tests for Hyperekplexia

Genetic tests related to Hyperekplexia:

# Genetic test Affiliating Genes
1 Hyperekplexia 28
2 Hyperekplexia Hereditary 28 GLRA1 GPHN

Anatomical Context for Hyperekplexia

MalaCards organs/tissues related to Hyperekplexia:

38
Brain, Testes, Heart, Cortex, Eye

Publications for Hyperekplexia

Articles related to Hyperekplexia:

(show top 50) (show all 177)
# Title Authors Year
1
Mutations affecting glycinergic neurotransmission in hyperekplexia increase pain sensitivity. ( 29149236 )
2018
2
A missense mutation A384P associated with human hyperekplexia reveals a desensitization site of glycine receptors. ( 29440552 )
2018
3
Teaching Video NeuroImages: Hyperekplexia: A syndrome of pathologic startle responses. ( 28348128 )
2017
4
Sporadic Hyperekplexia Plus Syndrome. ( 28553377 )
2017
5
A novel compound mutation in GLRA1 cause hyperekplexia in a Chinese boy- a case report and review of the literature. ( 28985719 )
2017
6
Hyperekplexia: A forgotten diagnosis clinched by next-generation sequencing. ( 28879899 )
2017
7
Familiar Hyperekplexia, a Potential Cause of Cautious Gait: A New Korean Case and a Systematic Review of Phenotypes. ( 28122427 )
2017
8
Sporadic hyperekplexia due to self-limiting brainstem encephalopathy. ( 29062233 )
2017
9
Clinical and Electrophysiological Findings in Two Siblings with Familial Hyperekplexia. ( 28566967 )
2017
10
Investigating the Mechanism by Which Gain-of-function Mutations to the I+1 Glycine Receptor Cause Hyperekplexia. ( 27226610 )
2016
11
A de novo CTNNB1 nonsense mutation associated with syndromic atypical hyperekplexia, microcephaly and intellectual disability: a case report. ( 26968164 )
2016
12
Hyperekplexia, microcephaly and simplified gyral pattern caused by novel ASNS mutations, case report. ( 27422383 )
2016
13
Hyperekplexia: Report on phenotype and genotype of 16 Jordanian patients. ( 27843043 )
2016
14
Molecular basis of a new form of hyperekplexia. ( 26531557 )
2015
15
Disturbed neuronal ER-Golgi sorting of unassembled glycine receptors suggests altered subcellular processing is a cause of human hyperekplexia. ( 25568133 )
2015
16
Disturbances of Ligand Potency and Enhanced Degradation of the Human Glycine Receptor at Affected Positions G160 and T162 Originally Identified in Patients Suffering from Hyperekplexia. ( 26733802 )
2015
17
Molecular basis of the dominant negative effect of a glycine transporter 2 mutation associated with hyperekplexia. ( 25480793 )
2015
18
Anesthetic management of a parturient with hyperekplexia. ( 25867194 )
2015
19
A confusing coincidence: neonatal hypoglycemic seizures and hyperekplexia. ( 24782896 )
2014
20
Identification of a novel missense GLRA1 gene mutation in hyperekplexia: a case report. ( 24969041 )
2014
21
Ethnicity can predict GLRA1 genotypes in hyperekplexia. ( 24970905 )
2014
22
Hyperekplexia: A Chinese Adolescent With 2 Novel Mutations of the GLRA1 Gene. ( 23143726 )
2014
23
The impact of human hyperekplexia mutations on glycine receptor structure and function. ( 24405574 )
2014
24
Clobazam-Clonazepam Combination Effective for Stimulus-Induced Falling in Hyperekplexia. ( 24453146 )
2014
25
Hyperekplexia: overexcitable and underdiagnosed. ( 25407752 )
2014
26
Sporadic hyperekplexia presenting with an ataxic gait. ( 24054400 )
2014
27
Infantile spasms and hyperekplexia associated with isolated sulfite oxidase deficiency. ( 24756183 )
2014
28
Novel mutations in the glycine receptor alpha subunit gene in two sisters with hyperekplexia. ( 25079583 )
2014
29
Presynaptic glycine receptors as a potential therapeutic target for hyperekplexia disease. ( 24390226 )
2014
30
Clinical and genetic investigation of 17 Japanese patients with hyperekplexia. ( 25356525 )
2014
31
Neonatal hyperekplexia with homozygous p.R392H mutation in GLRA1. ( 25036534 )
2014
32
The GLRA1 missense mutation W170S associates lack of Zn2+ potentiation with human hyperekplexia. ( 24198360 )
2013
33
A Startling Case of Neonatal Hyperekplexia Responsive to Levetiracetam: A New Alternative in Management? ( 23034981 )
2013
34
New hyperekplexia mutations provide insight into glycine receptor assembly, trafficking, and activation mechanisms. ( 24108130 )
2013
35
Clinical features and genetic analysis of children with hyperekplexia in Korea. ( 22532536 )
2013
36
Glycine receptor mouse mutants: model systems for human hyperekplexia. ( 23941355 )
2013
37
Analysis of hyperekplexia mutations identifies transmembrane domain rearrangements that mediate glycine receptor activation. ( 24097980 )
2013
38
Genotype-phenotype correlations in hyperekplexia: apnoeas, learning difficulties and speech delay. ( 24030948 )
2013
39
GLRB is the third major gene of effect in hyperekplexia. ( 23184146 )
2013
40
A 14-year-old girl with hyperekplexia having GLRB mutations. ( 23182654 )
2013
41
A new hyperekplexia family with a recessive frameshift mutation in the GLRA1 gene. ( 22290764 )
2012
42
Novel mutation of GLRA1 in Omani families with hyperekplexia and mild mental retardation. ( 22264702 )
2012
43
A novel dominant hyperekplexia mutation Y705C alters trafficking and biochemical properties of the presynaptic glycine transporter GlyT2. ( 22753417 )
2012
44
Function of hyperekplexia-causing I+1R271Q/L glycine receptors is restored by shifting the affected residue out of the allosteric signalling pathway. ( 21955162 )
2012
45
A novel syndrome of lethal familial hyperekplexia associated with brain malformation. ( 23101555 )
2012
46
Novel mutation in GLRB in a large family with hereditary hyperekplexia. ( 21391991 )
2012
47
Hyperekplexia masquerading as epilepsy. ( 21222052 )
2011
48
I^ Subunit M2-M3 loop conformational changes are uncoupled from I+1 I^ glycine receptor channel gating: implications for human hereditary hyperekplexia. ( 22132222 )
2011
49
Ectodermal, skeletal, and genitourinary abnormalities with neonatal hyperekplexia. ( 21481749 )
2011
50
Hyperekplexia: treatment of a severe phenotype and review of the literature. ( 21515498 )
2011

Variations for Hyperekplexia

ClinVar genetic disease variations for Hyperekplexia:

6 (show all 25)
# Gene Variation Type Significance SNP ID Assembly Location
1 GLRA1 NM_001146040.1(GLRA1): c.896G> T (p.Arg299Leu) single nucleotide variant Pathogenic rs121918408 GRCh37 Chromosome 5, 151230967: 151230967
2 GLRA1 NM_001146040.1(GLRA1): c.896G> A (p.Arg299Gln) single nucleotide variant Pathogenic rs121918408 GRCh37 Chromosome 5, 151230967: 151230967
3 GLRA1 NM_001146040.1(GLRA1): c.815T> A (p.Ile272Asn) single nucleotide variant Pathogenic rs121918409 GRCh37 Chromosome 5, 151231048: 151231048
4 GLRA1 NM_001146040.1(GLRA1): c.920A> G (p.Tyr307Cys) single nucleotide variant Pathogenic rs121918410 GRCh37 Chromosome 5, 151208621: 151208621
5 GLRA1 NM_001146040.1(GLRA1): c.882G> C (p.Gln294His) single nucleotide variant Pathogenic rs121918411 GRCh37 Chromosome 5, 151230981: 151230981
6 GLRA1 NM_001146040.1(GLRA1): c.910A> G (p.Lys304Glu) single nucleotide variant Pathogenic rs121918412 GRCh37 Chromosome 5, 151230953: 151230953
7 GLRA1 NM_001146040.1(GLRA1): c.832C> A (p.Pro278Thr) single nucleotide variant Pathogenic rs121918413 GRCh37 Chromosome 5, 151231031: 151231031
8 GLRA1 NM_000171.3(GLRA1): c.298delC (p.Arg100Alafs) deletion Pathogenic rs281864915 GRCh37 Chromosome 5, 151239524: 151239524
9 GLRA1 NM_001146040.1(GLRA1): c.690C> A (p.Tyr230Ter) single nucleotide variant Pathogenic rs121918415 GRCh37 Chromosome 5, 151234608: 151234608
10 GLRA1 NM_001146040.1(GLRA1): c.862G> A (p.Val288Met) single nucleotide variant Pathogenic rs121918416 GRCh37 Chromosome 5, 151231001: 151231001
11 GLRA1 NM_001146040.1(GLRA1): c.777C> G (p.Ser259Arg) single nucleotide variant Pathogenic rs121918417 GRCh37 Chromosome 5, 151231086: 151231086
12 GLRA1 NM_001146040.1(GLRA1): c.(?_-287)_(912+?)del deletion Pathogenic
13 GLRA1 NM_000171.3(GLRA1): c.971C> A (p.Ser324Ter) single nucleotide variant Pathogenic rs121918418 GRCh37 Chromosome 5, 151208570: 151208570
14 GLRA1 NM_001146040.1(GLRA1): c.884G> A (p.Ser295Asn) single nucleotide variant Pathogenic rs267606848 GRCh37 Chromosome 5, 151230979: 151230979
15 GLRA1 NM_001146040.1(GLRA1): c.299G> A (p.Arg100His) single nucleotide variant Pathogenic rs281864914 GRCh37 Chromosome 5, 151239523: 151239523
16 GLRA1 NM_001146040.1(GLRA1): c.737G> A (p.Arg246Gln) single nucleotide variant Pathogenic rs281864916 GRCh37 Chromosome 5, 151231126: 151231126
17 GLRA1 NM_001146040.1(GLRA1): c.801G> C (p.Trp267Cys) single nucleotide variant Pathogenic rs281864917 GRCh37 Chromosome 5, 151231062: 151231062
18 GLRA1 NM_001146040.1(GLRA1): c.892T> A (p.Ser298Thr) single nucleotide variant Pathogenic rs281864920 GRCh37 Chromosome 5, 151230971: 151230971
19 GLRA1 NM_001146040.1(GLRA1): c.920A> C (p.Tyr307Ser) single nucleotide variant Pathogenic rs121918410 GRCh37 Chromosome 5, 151208621: 151208621
20 GLRA1 NM_001146040.1(GLRA1): c.921delT (p.Tyr307Terfs) deletion Pathogenic rs281864921 GRCh37 Chromosome 5, 151208620: 151208620
21 GLRA1 NM_000171.3(GLRA1): c.1030C> T (p.Arg344Ter) single nucleotide variant Likely pathogenic rs281864913 GRCh37 Chromosome 5, 151208511: 151208511
22 GLRA1 NM_000171.3(GLRA1): c.1259G> A (p.Arg420His) single nucleotide variant Pathogenic rs281864919 GRCh37 Chromosome 5, 151202325: 151202325
23 GLRA1 NM_000171.3(GLRA1): c.(?_-287)_697+?del deletion Pathogenic GRCh38 Chromosome 5, 151855040: 151924836
24 GLRA1 NM_000171.3(GLRA1): c.277C> T (p.Arg93Trp) single nucleotide variant Likely pathogenic rs199547699 GRCh38 Chromosome 5, 151859984: 151859984
25 GLRA1 NM_001146040.1(GLRA1): c.477-1G> A single nucleotide variant Pathogenic rs762864856 GRCh38 Chromosome 5, 151856384: 151856384

Copy number variations for Hyperekplexia from CNVD:

7
# CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 194977 5 147200000 152100000 Deletion GLRA1 Hyperekplexia

Expression for Hyperekplexia

Search GEO for disease gene expression data for Hyperekplexia.

Pathways for Hyperekplexia

Pathways related to Hyperekplexia according to KEGG:

36
# Name Kegg Source Accession
1 Neuroactive ligand-receptor interaction hsa04080

Pathways related to Hyperekplexia according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.69 ARHGEF9 GABRG2 GLRA1 GLRB SLC6A2 SLC6A5
2
Show member pathways
11.95 ARHGEF9 GABRG2 GLRA1 GLRB
3 11.66 SLC6A2 SLC6A5 SLC6A9
4
Show member pathways
10.83 GPHN MOCS1
5 10.62 ADRA1D SLC6A2
6
Show member pathways
10.55 ARHGEF9 GABRG2 GLRA1 GLRB

GO Terms for Hyperekplexia

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

# Name GO ID Score Top Affiliating Genes
1 plasma membrane GO:0005886 9.93 ADRA1D DPP6 GABRG2 GLRA1 GLRB GPHN
2 cell junction GO:0030054 9.83 GABRG2 GLRA1 GLRB GPHN TBC1D24
3 cell projection GO:0042995 9.8 GABRG2 GARS GLRA1 GLRB GPHN SCN9A
4 synapse GO:0045202 9.77 GABRG2 GLRA1 GLRB GPHN SLC6A9
5 dendrite GO:0030425 9.71 GABRG2 GLRA1 GLRB GPHN
6 postsynaptic membrane GO:0045211 9.56 GABRG2 GLRA1 GLRB GPHN
7 integral component of plasma membrane GO:0005887 9.28 ADRA1D GABRG2 GLRA1 GLRB SCN9A SLC6A2
8 chloride channel complex GO:0034707 9.13 GABRG2 GLRA1 GLRB

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

(show all 18)
# Name GO ID Score Top Affiliating Genes
1 transmembrane transport GO:0055085 9.93 GABRG2 SCN9A SLC6A2 SLC6A5 SLC6A9
2 transport GO:0006810 9.81 GABRG2 GLRA1 GLRB SCN9A SEC24D SLC6A2
3 chloride transmembrane transport GO:1902476 9.67 GABRG2 GLRA1 GLRB
4 chloride transport GO:0006821 9.65 GABRG2 GLRA1 GLRB
5 response to amino acid GO:0043200 9.58 ASNS GLRB
6 adult walking behavior GO:0007628 9.57 GLRA1 GLRB
7 amino acid transmembrane transport GO:0003333 9.56 SLC6A9 SLC7A10
8 neuromuscular process GO:0050905 9.55 GLRA1 GLRB
9 acrosome reaction GO:0007340 9.52 GLRA1 GLRB
10 startle response GO:0001964 9.51 GLRA1 GLRB
11 neurotransmitter transport GO:0006836 9.5 SLC6A2 SLC6A5 SLC6A9
12 righting reflex GO:0060013 9.46 GLRA1 GLRB
13 glycine transport GO:0015816 9.43 SLC6A5 SLC6A9
14 molybdopterin cofactor biosynthetic process GO:0032324 9.4 GPHN MOCS1
15 Mo-molybdopterin cofactor biosynthetic process GO:0006777 9.37 GPHN MOCS1
16 chemical synaptic transmission GO:0007268 9.35 GABRG2 GLRA1 GLRB SLC6A2 SLC6A5
17 gamma-aminobutyric acid receptor clustering GO:0097112 9.26 GLRB GPHN
18 synaptic transmission, glycinergic GO:0060012 8.8 GLRA1 GLRB SLC6A5

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

# Name GO ID Score Top Affiliating Genes
1 symporter activity GO:0015293 9.63 SLC6A2 SLC6A5 SLC6A9
2 chloride channel activity GO:0005254 9.58 GABRG2 GLRA1 GLRB
3 ion channel activity GO:0005216 9.46 GABRG2 GLRA1 GLRB SCN9A
4 glycine binding GO:0016594 9.43 GLRA1 GLRB
5 extracellular ligand-gated ion channel activity GO:0005230 9.43 GABRG2 GLRA1 GLRB
6 glycine transmembrane transporter activity GO:0015187 9.37 SLC6A5 SLC6A9
7 extracellularly glycine-gated chloride channel activity GO:0016934 9.32 GLRA1 GLRB
8 extracellularly glycine-gated ion channel activity GO:0016933 8.96 GLRA1 GLRB
9 glycine:sodium symporter activity GO:0015375 8.62 SLC6A5 SLC6A9

Sources for Hyperekplexia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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