MCID: HYP539
MIFTS: 47

Hyperekplexia, Hereditary 1, Autosomal Dominant or Recessive malady

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

Aliases & Classifications for Hyperekplexia, Hereditary 1, Autosomal Dominant or Recessive

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Aliases & Descriptions for Hyperekplexia, Hereditary 1, Autosomal Dominant or Recessive:

Name: Hyperekplexia, Hereditary 1, Autosomal Dominant or Recessive 51 12
Hyperekplexia 11 23 24 25 53 26 49
Hereditary Hyperekplexia 11 47 25 53
Kok Disease 11 47 53 69
Startle Disease, Familial 23 47 24
Hyperekplexia, Hereditary 23 24 26
Familial Startle Disease 11 53 69
Stiff-Baby Syndrome 47 25 69
Startle Syndrome 23 24 25
Sthe 47 25 69
Congenital Stiff-Person Syndrome 25 69
Congenital Stiff-Man Syndrome 25 69
Congenital Stiff Man Syndrome 11 53
Exaggerated Startle Reaction 47 69
 
Hereditary Hyperexplexia 53 67
Hyperekplexia Hereditary 1 Autosomal Dominant or Recessive 69
Stiff-Person Syndrome, Congenital 47
Stiff-Man Syndrome, Congenital 47
Startle Reaction, Exaggerated 47
Hereditary Hyperexplexia 1 69
Hyperexplexia Hereditary 47
Familial Hyperekplexia 25
Stiff-Person Syndrome 67
Stiff Baby Syndrome 53
Hyperekplexia 1 69
Startle Disease 11
Hkpx1 69

Characteristics:

Orphanet epidemiological data:

53
hyperekplexia:
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal

HPO:

63
hyperekplexia, hereditary 1, autosomal dominant or recessive:
Inheritance: autosomal dominant inheritance, autosomal recessive inheritance
Onset and clinical course: infantile onset

GeneReviews:

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


Classifications:



External Ids:

OMIM51 149400
Disease Ontology11 DOID:0060695
ICD1029 G25.8
Orphanet53 ORPHA3197
ICD10 via Orphanet30 G25.8
MedGen36 C1835614

Summaries for Hyperekplexia, Hereditary 1, Autosomal Dominant or Recessive

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OMIM:51 Hyperekplexia is an early-onset neurologic disorder characterized by an exaggerated startle response to sudden,... (149400) more...

MalaCards based summary: Hyperekplexia, Hereditary 1, Autosomal Dominant or Recessive, also known as 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, Hereditary 1, Autosomal Dominant or Recessive is GLRA1 (Glycine Receptor Alpha 1), and among its related pathways are Ligand-gated ion channel transport and Ion channel transport. Affiliated tissues include bone, and related mouse phenotypes are muscle and behavior/neurological.

Disease Ontology:11 A nervous system disease characterized by an exaggerated startle response to sudden, unexpected auditory or tactile stimuli and hypertonia.

Genetics Home Reference:25 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.

UniProtKB/Swiss-Prot:69 Hyperekplexia 1: A neurologic disorder characterized by muscular rigidity of central nervous system origin, particularly in the neonatal period, and by an exaggerated startle response to unexpected acoustic or tactile stimuli.

Wikipedia:70 Hyperekplexia (\"exaggerated surprise\") is a neurologic disorder classically characterised by... more...

GeneReviews for NBK1260

Related Diseases for Hyperekplexia, Hereditary 1, Autosomal Dominant or Recessive

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Diseases in the Sporadic Hyperekplexia family:

Hyperekplexia 2, Autosomal Recessive hyperekplexia, hereditary 1, autosomal dominant or recessive
Hyperekplexia 3 Hyperekplexia 1
Arhgef9-Related Hyperekplexia Glra1-Related Hyperekplexia
Glrb-Related Hyperekplexia Gphn-Related Hyperekplexia
Slc6a5-Related Hyperekplexia

Diseases related to Hyperekplexia, Hereditary 1, Autosomal Dominant or Recessive via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 35)
idRelated DiseaseScoreTop Affiliating Genes
1hyperekplexia 2, autosomal recessive12.1
2hyperekplexia 312.1
3hyperekplexia 112.0
4sporadic hyperekplexia11.9
5arhgef9-related hyperekplexia11.7
6glra1-related hyperekplexia11.7
7glrb-related hyperekplexia11.7
8gphn-related hyperekplexia11.7
9slc6a5-related hyperekplexia11.7
10epileptic encephalopathy, early infantile, 811.5
11molybdenum cofactor deficiency11.1
12stiff-person syndrome11.0
13epileptic encephalopathy, early infantile, 1710.7
14spastic paraparesis9.9
15spasticity9.9
16deafness, autosomal recessive 1019.9GLRA1, GPHN
17glycine encephalopathy9.9GARS, SLC6A5
18microcephaly9.8
19epilepsy9.8
20neuronitis9.8
21encephalopathy9.8
22cryptogenic organizing pneumonia9.7GLRA1, GLRB
23sudden infant death syndrome9.7
24sulfite oxidase deficiency9.7
25sleep apnea9.7
26obstructive sleep apnea9.7
27inguinal hernia9.7
28status epilepticus9.7
29cerebritis9.7
30muscular dystrophy9.7
31intellectual disability9.7
32startle epilepsy9.7
33complement component deficiency9.6GLRA1, GPHN
34myd88 deficiency9.4GLRA1, GLRB, GPHN
35ipex syndrome7.9ARHGEF9, GARS, GLRA1, GLRB, GPHN, SLC6A5

Graphical network of the top 20 diseases related to Hyperekplexia, Hereditary 1, Autosomal Dominant or Recessive:



Diseases related to hyperekplexia, hereditary 1, autosomal dominant or recessive

Symptoms for Hyperekplexia, Hereditary 1, Autosomal Dominant or Recessive

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Symptoms by clinical synopsis from OMIM:

149400

Clinical features from OMIM:

149400

Human phenotypes related to Hyperekplexia, Hereditary 1, Autosomal Dominant or Recessive:

 63 (show all 20)
id Description HPO Frequency HPO Source Accession
1 hypertonia63 hallmark (90%) HP:0001276
2 hyperreflexia63 hallmark (90%) HP:0001347
3 limitation of joint mobility63 hallmark (90%) HP:0001376
4 incoordination63 hallmark (90%) HP:0002311
5 involuntary movements63 hallmark (90%) HP:0004305
6 gait disturbance63 typical (50%) HP:0001288
7 umbilical hernia63 typical (50%) HP:0001537
8 sleep disturbance63 typical (50%) HP:0002360
9 seizures63 occasional (7.5%) HP:0001250
10 joint dislocation63 occasional (7.5%) HP:0001373
11 abnormality of the hip bone63 occasional (7.5%) HP:0003272
12 cognitive impairment63 occasional (7.5%) HP:0100543
13 inguinal hernia63 HP:0000023
14 myoclonus63 HP:0001336
15 apnea63 HP:0002104
16 exaggerated startle response63 HP:0002267
17 frequent falls63 HP:0002359
18 hypokinesia63 HP:0002375
19 hip dislocation63 HP:0002827
20 aspiration63 HP:0002835

UMLS symptoms related to Hyperekplexia, Hereditary 1, Autosomal Dominant or Recessive:


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

Drugs & Therapeutics for Hyperekplexia, Hereditary 1, Autosomal Dominant or Recessive

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Drugs for Hyperekplexia, Hereditary 1, Autosomal Dominant or Recessive (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 12)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
rituximabapprovedPhase 21654174722-31-710201696
Synonyms:
AntiCD20
IDEC-102
IDEC-C2B8
 
Ig gamma-1 chain C region
MabThera
Mabthera
Rituxan
rituximab
2AntibodiesPhase 2, Phase 16045
3ImmunoglobulinsPhase 2, Phase 16045
4Antirheumatic AgentsPhase 210627
5Antibodies, MonoclonalPhase 23795
6Rho(D) Immune GlobulinPhase 1317
7gamma-GlobulinsPhase 1317
8Immunoglobulins, IntravenousPhase 1324
9
Glycineapproved, nutraceutical, vet_approved22656-40-6750
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
10Autoantibodies126
11Neurotransmitter Agents17734
12Glutamic AcidNutraceutical214

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, Hereditary 1, Autosomal Dominant or Recessive

Genetic Tests for Hyperekplexia, Hereditary 1, Autosomal Dominant or Recessive

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Genetic tests related to Hyperekplexia, Hereditary 1, Autosomal Dominant or Recessive:

id Genetic test Affiliating Genes
1 Hyperekplexia26 24 SLC6A5
2 Hyperekplexia Hereditary26

Anatomical Context for Hyperekplexia, Hereditary 1, Autosomal Dominant or Recessive

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MalaCards organs/tissues related to Hyperekplexia, Hereditary 1, Autosomal Dominant or Recessive:

35
Bone

Animal Models for Hyperekplexia, Hereditary 1, Autosomal Dominant or Recessive or affiliated genes

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MGI Mouse Phenotypes related to Hyperekplexia, Hereditary 1, Autosomal Dominant or Recessive:

40
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053699.2GARS, GLRA1, GLRB, SLC6A5
2MP:00053867.9ARHGEF9, GARS, GLRA1, GLRB, GPHN, SLC6A5
3MP:00036317.1ARHGEF9, GARS, GLRA1, GLRB, GPHN, SLC6A5

Publications for Hyperekplexia, Hereditary 1, Autosomal Dominant or Recessive

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Variations for Hyperekplexia, Hereditary 1, Autosomal Dominant or Recessive

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UniProtKB/Swiss-Prot genetic disease variations for Hyperekplexia, Hereditary 1, Autosomal Dominant or Recessive:

69 (show all 18)
id Symbol AA change Variation ID SNP ID
1GLRA1p.Ile272AsnVAR_000296rs121918409
2GLRA1p.Gln294HisVAR_000297rs121918411
3GLRA1p.Arg299LeuVAR_000298rs121918408
4GLRA1p.Arg299GlnVAR_000299rs121918408
5GLRA1p.Lys304GluVAR_000300rs121918412
6GLRA1p.Tyr307CysVAR_000301rs121918410
7GLRA1p.Pro278ThrVAR_010112rs121918413
8GLRA1p.Arg280HisVAR_010113rs281864918
9GLRA1p.Arg428HisVAR_010114rs281864919
10GLRA1p.Arg93TrpVAR_075418rs199547699
11GLRA1p.Arg100CysVAR_075419
12GLRA1p.Arg246TrpVAR_075420rs751659671
13GLRA1p.Gln254GluVAR_075421
14GLRA1p.Pro258SerVAR_075422
15GLRA1p.Val308MetVAR_075423
16GLRA1p.Leu319ProVAR_075424
17GLRA1p.Asp424AlaVAR_075425
18GLRA1p.Arg450HisVAR_075426rs200130685

Clinvar genetic disease variations for Hyperekplexia, Hereditary 1, Autosomal Dominant or Recessive:

5 (show all 23)
id Gene Variation Type Significance SNP ID Assembly Location
1GLRA1NM_001146040.1(GLRA1): c.896G> T (p.Arg299Leu)SNVPathogenicrs121918408GRCh37Chr 5, 151230967: 151230967
2GLRA1NM_001146040.1(GLRA1): c.896G> A (p.Arg299Gln)SNVPathogenicrs121918408GRCh37Chr 5, 151230967: 151230967
3GLRA1NM_001146040.1(GLRA1): c.815T> A (p.Ile272Asn)SNVPathogenicrs121918409GRCh37Chr 5, 151231048: 151231048
4GLRA1NM_001146040.1(GLRA1): c.920A> G (p.Tyr307Cys)SNVPathogenicrs121918410GRCh37Chr 5, 151208621: 151208621
5GLRA1NM_001146040.1(GLRA1): c.882G> C (p.Gln294His)SNVPathogenicrs121918411GRCh37Chr 5, 151230981: 151230981
6GLRA1NM_001146040.1(GLRA1): c.910A> G (p.Lys304Glu)SNVPathogenicrs121918412GRCh37Chr 5, 151230953: 151230953
7GLRA1NM_001146040.1(GLRA1): c.832C> A (p.Pro278Thr)SNVPathogenicrs121918413GRCh37Chr 5, 151231031: 151231031
8GLRA1NM_001146040.1(GLRA1): c.690C> A (p.Tyr230Ter)SNVPathogenicrs121918415GRCh37Chr 5, 151234608: 151234608
9GLRA1NM_001146040.1(GLRA1): c.862G> A (p.Val288Met)SNVPathogenicrs121918416GRCh37Chr 5, 151231001: 151231001
10GLRA1NM_001146040.1(GLRA1): c.777C> G (p.Ser259Arg)SNVPathogenicrs121918417GRCh37Chr 5, 151231086: 151231086
11GLRA1NM_001146040.1(GLRA1): c.(?_-287)_(912+?)deldeletionPathogenicChr na, -1: -1
12GLRA1NM_001146040.1(GLRA1): c.971C> A (p.Ser324Ter)SNVPathogenicrs121918418GRCh37Chr 5, 151208570: 151208570
13GLRA1NM_001146040.1(GLRA1): c.884G> A (p.Ser295Asn)SNVPathogenicrs267606848GRCh37Chr 5, 151230979: 151230979
14GLRA1NM_000171.3(GLRA1): c.1108G> A (p.Gly370Ser)SNVPathogenicrs116474260GRCh37Chr 5, 151202476: 151202476
15GLRA1NM_001146040.1(GLRA1): c.299G> A (p.Arg100His)SNVPathogenicrs281864914GRCh37Chr 5, 151239523: 151239523
16GLRA1NM_001146040.1(GLRA1): c.737G> A (p.Arg246Gln)SNVPathogenicrs281864916GRCh37Chr 5, 151231126: 151231126
17GLRA1NM_001146040.1(GLRA1): c.801G> C (p.Trp267Cys)SNVPathogenicrs281864917GRCh37Chr 5, 151231062: 151231062
18GLRA1NM_001146040.1(GLRA1): c.892T> A (p.Ser298Thr)SNVPathogenicrs281864920GRCh37Chr 5, 151230971: 151230971
19GLRA1NM_001146040.1(GLRA1): c.920A> C (p.Tyr307Ser)SNVPathogenicrs121918410GRCh37Chr 5, 151208621: 151208621
20GLRA1NM_001146040.1(GLRA1): c.921delT (p.Tyr307Terfs)deletionPathogenicrs281864921GRCh37Chr 5, 151208620: 151208620
21GLRA1NM_000171.3(GLRA1): c.298delC (p.Arg100Alafs)deletion, CompoundHeterozygotePathogenicrs281864915GRCh37Chr 5, 151239524: 151239524
22GLRA1NM_000171.3(GLRA1): c.(?_-287)_697+?deldeletionPathogenicGRCh38Chr 5, 151855040: 151924836
23GPHNNM_020806.4(GPHN): c.28A> T (p.Asn10Tyr)SNVPathogenicrs121908539GRCh37Chr 14, 66975273: 66975273

Copy number variations for Hyperekplexia, Hereditary 1, Autosomal Dominant or Recessive from CNVD:

6
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
11949775147200000152100000DeletionGLRA1Hyperekplexia

Expression for genes affiliated with Hyperekplexia, Hereditary 1, Autosomal Dominant or Recessive

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Search GEO for disease gene expression data for Hyperekplexia, Hereditary 1, Autosomal Dominant or Recessive.

Pathways for genes affiliated with Hyperekplexia, Hereditary 1, Autosomal Dominant or Recessive

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GO Terms for genes affiliated with Hyperekplexia, Hereditary 1, Autosomal Dominant or Recessive

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Cellular components related to Hyperekplexia, Hereditary 1, Autosomal Dominant or Recessive according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1postsynaptic membraneGO:00452118.9GLRA1, GLRB, GPHN
2dendriteGO:00304258.9GLRA1, GLRB, GPHN
3cell junctionGO:00300548.6GLRA1, GLRB, GPHN

Biological processes related to Hyperekplexia, Hereditary 1, Autosomal Dominant or Recessive according to GeneCards Suite gene sharing:

(show all 14)
idNameGO IDScoreTop Affiliating Genes
1acrosome reactionGO:000734010.1GLRA1, GLRB
2righting reflexGO:006001310.1GLRA1, GLRB
3gamma-aminobutyric acid receptor clusteringGO:009711210.0GLRB, GPHN
4neuromuscular processGO:005090510.0GLRA1, GLRB
5chloride transmembrane transportGO:19024769.9GLRA1, GLRB
6protein heterooligomerizationGO:00512919.8GLRA1, GLRB
7neuropeptide signaling pathwayGO:00072189.8GLRA1, GLRB
8ion transportGO:00068119.8GLRA1, GLRB
9synaptic transmission, glycinergicGO:00600129.6GLRA1, GLRB, SLC6A5
10regulation of membrane potentialGO:00423919.5GLRA1, GLRB
11adult walking behaviorGO:00076289.4GLRA1, GLRB
12startle responseGO:00019649.1GLRA1, GLRB
13chemical synaptic transmissionGO:00072689.0GLRA1, GLRB, SLC6A5
14ion transmembrane transportGO:00342208.8ARHGEF9, GLRA1, GLRB

Molecular functions related to Hyperekplexia, Hereditary 1, Autosomal Dominant or Recessive according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1extracellular-glycine-gated chloride channel activityGO:00169349.7GLRA1, GLRB
2extracellular-glycine-gated ion channel activityGO:00169339.7GLRA1, GLRB
3glycine bindingGO:00165949.4GLRA1, GLRB

Sources for Hyperekplexia, Hereditary 1, Autosomal Dominant or Recessive

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet