MCID: HYP097
MIFTS: 52

Hyperekplexia malady

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

Aliases & Classifications for Hyperekplexia

About this section
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

About this section
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, colon and liver, 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

About this section

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 153)
idRelated DiseaseScoreTop Affiliating Genes
1hyperekplexia 2, autosomal recessive12.5
2hyperekplexia 312.5
3hyperekplexia, hereditary 1, autosomal dominant or recessive12.5
4arhgef9-related hyperekplexia12.2
5glra1-related hyperekplexia12.2
6glrb-related hyperekplexia12.2
7gphn-related hyperekplexia12.2
8slc6a5-related hyperekplexia12.2
9sporadic hyperekplexia12.2
10epileptic encephalopathy, early infantile, 811.7
11epileptic encephalopathy, early infantile, 1711.4
12molybdenum cofactor deficiency10.3
13meningitis10.3
14endotheliitis10.3
15thyroiditis10.2
16neuronitis10.2
17lymphoma10.1
18histiocytosis10.1
19cerebritis10.1
20adenoma10.1
21malignant histiocytosis10.1
22aneurysm10.1
23pleuropulmonary blastoma10.0
24pneumonia10.0
25schizophrenia10.0
26rheumatoid arthritis10.0
27colorectal cancer10.0
28malaria10.0
29lung cancer10.0
30prostate cancer10.0
31coronary artery disease10.0
32alcohol dependence10.0
33hyperprolactinemia10.0
34tetralogy of fallot10.0
35prader-willi syndrome10.0
36gitelman syndrome10.0
37creutzfeldt-jakob disease10.0
38peyronie's disease10.0
39twin-to-twin transfusion syndrome10.0
40arthritis10.0
41atherosclerosis10.0
42b-cell lymphomas10.0
43cervical squamous cell carcinoma10.0
44crohn's disease10.0
45hepatitis10.0
46hereditary ataxia10.0
47hydrocephalus10.0
48insulinoma10.0
49leukemia10.0
50spinal stenosis10.0

Graphical network of the top 20 diseases related to Hyperekplexia:



Diseases related to hyperekplexia

Symptoms for Hyperekplexia

About this section

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

About this section

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

About this section

Genetic tests related to Hyperekplexia:

id Genetic test Affiliating Genes
1 Hyperekplexia22 SLC6A5

Anatomical Context for Hyperekplexia

About this section

MalaCards organs/tissues related to Hyperekplexia:

33
Bone, Colon, Liver, T cells, Endothelial, Pituitary, B cells

Animal Models for Hyperekplexia or affiliated genes

About this section

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

About this section

Articles related to Hyperekplexia:

(show top 50)    (show all 163)
idTitleAuthorsYear
1
Bone health in phenylketonuria: a systematic review and meta-analysis. (25758373)
2015
2
Impact of Brachyury on epithelial-mesenchymal transitions and chemosensitivity in non-small cell lung cancer. (25683840)
2015
3
More Than 25 Years of Experience in Managing Pulmonary Atresia With Intact Ventricular Septum. (25149048)
2014
4
Effects of TNF-I+ polymorphisms on asthma risk: a systematic review and meta-analysis. (25668892)
2014
5
Effect of Helicobacter pylori infection on esophagogastric variceal bleeding in patients with liver cirrhosis and portal hypertension. (23577833)
2013
6
Identifying protein partners of CLN8, an ER-resident protein involved in neuronal ceroid lipofuscinosis. (23142642)
2013
7
Evaluation of the relationship between serum levels of VEGF and sVEGFR1 with mortality and prognosis in patients with Crimean-Congo hemorrhagic fever. (23868816)
2013
8
Increased serum HMGB1 is related to oxidative stress in patients with atrial fibrillation. (24265331)
2013
9
Early diagnosis and management of delayed bleeding inA theA submucosal tunnel after peroral endoscopic myotomyA forA achalasia (with video). (23680177)
2013
10
Increased myeloperoxidase plasma levels in rheumatoid arthritis. (21331575)
2012
11
Platelet inhibition and GP IIb/IIIa receptor occupancy by intracoronary versus intravenous bolus administration of abciximab in patients with ST-elevation myocardial infarction. (22015616)
2012
12
Oral rabies vaccination of raccoons and striped skunks with ONRABAr baits: multiple factors influence field immunogenicity. (23060499)
2012
13
Investigation of cortical thickness abnormalities in lithium-free adults with bipolar I disorder using cortical pattern matching. (21285139)
2011
14
The emerging role of TRIB3 as a gene affecting human insulin resistance and related clinical outcomes. (19139803)
2009
15
The 9p24.3 breakpoint of a constitutional t(6;9)(p12;p24) in a patient with chronic lymphocytic leukemia maps close to the putative promoter region of the DMRT2 gene. (19729909)
2009
16
Rapid analysis of plasma paraquat using sodium dithionite as a predictor of outcome in acute paraquat poisoning. (19826241)
2009
17
Outcomes of 23- and 25-gauge transconjunctival sutureless vitrectomies for idiopathic macular holes. (18614566)
2008
18
Keratosis follicularis spinulosa decalvans in a family. (18280351)
2008
19
Structure of the covalent adduct formed between Mycobacterium tuberculosis beta-lactamase and clavulanate. (18422342)
2008
20
Immunohistochemical discrimination between the ASPL-TFE3 fusion proteins of alveolar soft part sarcoma. (18176180)
2008
21
Signatures of selection in the human olfactory receptor OR5I1 gene. (17981927)
2008
22
An inhibitor-resistant mutant of Hck protects CML cells against the antiproliferative and apoptotic effects of the broad-spectrum Src family kinase inhibitor A-419259. (18794796)
2008
23
Endovascular repair of thoracic aortic disease: early and midterm experience. (17595383)
2007
24
Epistatic effects between two genes in the renin-angiotensin system and systolic blood pressure and coronary artery calcification. (16572049)
2006
25
Functional properties and pharmacological inhibition of ASIC channels in the human SJ-RH30 skeletal muscle cell line. (15576453)
2005
26
Mapping a locus for susceptibility to HIV-1-associated nephropathy to mouse chromosome 3. (14983036)
2004
27
Inflammatory cytokines and fatty acids regulate endothelial cell heparanase expression. (15109255)
2004
28
Post-synaptic density-95 promotes calcium/calmodulin-dependent protein kinase II-mediated Ser847 phosphorylation of neuronal nitric oxide synthase. (12630910)
2003
29
A novel strategy to design binding molecules harnessing the modular nature of repeat proteins. (12650916)
2003
30
The serum cytokine profiles of lymphoma-associated hemophagocytic syndrome: a comparative analysis of B-cell and T-cell/natural killer cell lymphomas. (12731674)
2003
31
cGMP inhibits GTP cyclohydrolase I activity and biosynthesis of tetrahydrobiopterin in human umbilical vein endothelial cells. (14646243)
2003
32
Induction of the CBP transcriptional co-activator early during laryngeal carcinogenesis. (11935299)
2002
33
Atypical antipsychotic drugs, quetiapine, iloperidone, and melperone, preferentially increase dopamine and acetylcholine release in rat medial prefrontal cortex: role of 5-HT1A receptor agonism. (12445705)
2002
34
Immunohistochemical detection of pS2 protein and heat shock protein-70 in pancreatic adenocarcinomas. Relationship with disease extent and patient survival. (11928868)
2002
35
30 years: Happy birthday, GPCR. The bradykinin B2 receptor: an alternative and antiproliferative pathway]. (11908480)
2002
36
Birth of a healthy girl after ICSI with ejaculated spermatozoa from a man with non-mosaic Klinefelter's syndrome. (11527897)
2001
37
Identification of a 6-cM minimal deletion at 11q23.1-23.2 and exclusion of PPP2R1B gene as a deletion target in cervical cancer. (11118052)
2000
38
Initiation of apoptosis by granzyme B requires direct cleavage of bid, but not direct granzyme B-mediated caspase activation. (11085743)
2000
39
Evaluation of an adenoviral vector encoding full-length human factor VIII in hemophiliac mice. (10063998)
1999
40
Colonic motility is abnormal before surgery for rectal prolapse. (10576895)
1999
41
Alterations of the PPP2R1B gene in human lung and colon cancer. (9765152)
1998
42
Semen analysis in HIV seropositive men and in subjects at high risk for HIV infection. (8671325)
1996
43
Idiopathic CD4+ T-lymphocytopenia--four patients with opportunistic infections and no evidence of HIV infection. (8093636)
1993
44
Phase I study of escalating dose mitoxantrone in combination with alpha-2-interferon in patients with advanced solid tumors. (1783524)
1991
45
Gene mapping of human cathepsins and cystatins. (1801728)
1991
46
Oxygen-derived free radicals and the prevention of duodenal ulcer relapse: a new approach. (2164771)
1990
47
Inhibition of the receptor-mediated endocytosis of diferric transferrin is associated with the covalent modification of the transferrin receptor with palmitic acid. (2398066)
1990
48
A new hereditary neuromuscular disease in the dog breed &quot;Gammel Dansk Honsehund&quot;. Genetic investigations. (7201985)
1982
49
Epidermodysplasia verruciformis. (15427431)
1950
50

Variations for Hyperekplexia

About this section

Expression for genes affiliated with Hyperekplexia

About this section
Search GEO for disease gene expression data for Hyperekplexia.

Pathways for genes affiliated with Hyperekplexia

About this section

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

About this section

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

About this section
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