HKPX1
MCID: HYP699
MIFTS: 44

Hyperekplexia 1 (HKPX1)

Categories: Genetic diseases, Mental diseases, Metabolic diseases, Muscle diseases, Neuronal diseases, Rare diseases, Respiratory diseases

Aliases & Classifications for Hyperekplexia 1

MalaCards integrated aliases for Hyperekplexia 1:

Name: Hyperekplexia 1 57 12 72 29 6 15
Hkpx1 57 12 72
Exaggerated Startle Reaction 57 72
Stiff-Baby Syndrome 57 72
Kok Disease 57 72
Sthe 57 72
Hyperekplexia, Hereditary 1, Autosomal Dominant or Recessive 13
Hyperekplexia Hereditary 1 Autosomal Dominant or Recessive 72
Stiff-Person Syndrome, Congenital 57
Congenital Stiff-Person Syndrome 72
Stiff-Man Syndrome, Congenital 57
Startle Reaction, Exaggerated 57
Congenital Stiff-Man Syndrome 72
Hereditary Hyperexplexia 1 72
Startle Disease, Familial 57
Familial Startle Disease 72
Hereditary Hyperexplexia 70
Stiff-Person Syndrome 70
Hyperekplexia 44

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive
autosomal dominant

Miscellaneous:
onset in infancy
infants may die from apnea or aspiration
good response to clonazepam
see also adult-onset stiff person syndrome


HPO:

31
hyperekplexia 1:
Inheritance autosomal dominant inheritance autosomal recessive inheritance
Onset and clinical course infantile onset


Classifications:



External Ids:

Disease Ontology 12 DOID:0060696
OMIM® 57 149400
OMIM Phenotypic Series 57 PS149400
MeSH 44 D000071017
ICD10 32 G25.8
UMLS 70 C0085292 C1835614

Summaries for Hyperekplexia 1

OMIM® : 57 Hyperekplexia is an early-onset neurologic disorder characterized by an exaggerated startle response to sudden, unexpected auditory or tactile stimuli. Affected individuals have brief episodes of intense, generalized hypertonia in response to stimulation. Neonates may have prolonged periods of rigidity and are at risk for sudden death from apnea or aspiration. Many affected infants have inguinal hernias. The symptoms tend to resolve after infancy, but adults may have increased startle-induced falls and/or experience nocturnal muscle jerks (summary by Ryan et al., 1992). (149400) (Updated 05-Apr-2021)

MalaCards based summary : Hyperekplexia 1, also known as hkpx1, is related to hyperekplexia and molybdenum cofactor deficiency, and has symptoms including fever, myoclonus and opisthotonus. An important gene associated with Hyperekplexia 1 is GLRA1 (Glycine Receptor Alpha 1). The drugs Cytarabine and Carmustine have been mentioned in the context of this disorder. Affiliated tissues include skeletal muscle, and related phenotypes are inguinal hernia and umbilical hernia

Disease Ontology : 12 A hyperekplexia that has material basis in heterozygous, homozygous, or compound heterozygous mutation in the GLRA1 gene on chromosome 5q32.

UniProtKB/Swiss-Prot : 72 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.

Related Diseases for Hyperekplexia 1

Diseases in the Hyperekplexia family:

Hyperekplexia 1 Hyperekplexia 3
Hyperekplexia 2 Hyperekplexia 4
Sporadic Hyperekplexia

Diseases related to Hyperekplexia 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 83)
# Related Disease Score Top Affiliating Genes
1 hyperekplexia 31.3 GPHN GLRA1
2 molybdenum cofactor deficiency 31.2 GPHN GLRA1
3 stiff-person syndrome 29.3 GPHN GLRA1
4 hyperekplexia 2 11.6
5 hyperekplexia 3 11.6
6 sandhoff disease 11.2
7 gm2-gangliosidosis, ab variant 11.2
8 tay-sachs disease 11.2
9 asparagine synthetase deficiency 11.2
10 gm1 gangliosidosis 11.2
11 clpb deficiency 11.2
12 spastic tetraplegia and axial hypotonia, progressive 11.0
13 sporadic hyperekplexia 11.0
14 developmental and epileptic encephalopathy 8 10.9
15 hyperekplexia 4 10.9
16 seizure disorder 10.1
17 encephalopathy 10.1
18 sudden infant death syndrome 10.1
19 alacrima, achalasia, and mental retardation syndrome 10.1
20 aspiration pneumonia 10.1
21 inguinal hernia 10.1
22 spasticity 10.1
23 tremor 10.1
24 creutzfeldt-jakob disease 10.1
25 mutism 10.1
26 akinetic mutism 10.1
27 myoclonus 10.1
28 umbilical hernia 10.0
29 microcephaly 10.0
30 status epilepticus 10.0
31 spastic paraparesis 10.0
32 cyanosis, transient neonatal 10.0
33 helix syndrome 9.9
34 west syndrome 9.9
35 quadriplegia 9.9
36 early myoclonic encephalopathy 9.9
37 dystonia 9.9
38 startle epilepsy 9.9
39 jumping frenchmen of maine 9.9
40 hypertonia 9.9
41 distichiasis 9.8
42 lymphedema-distichiasis syndrome 9.8
43 chromosome 5q deletion syndrome 9.8
44 muscular dystrophy-dystroglycanopathy , type a, 4 9.8
45 batten-turner congenital myopathy 9.8
46 schwartz-jampel syndrome, type 1 9.8
47 sulfite oxidase deficiency, isolated 9.8
48 ataxia and polyneuropathy, adult-onset 9.8
49 yemenite deaf-blind hypopigmentation syndrome 9.8
50 muscular dystrophy, congenital, lmna-related 9.8

Graphical network of the top 20 diseases related to Hyperekplexia 1:



Diseases related to Hyperekplexia 1

Symptoms & Phenotypes for Hyperekplexia 1

Human phenotypes related to Hyperekplexia 1:

31 (show all 11)
# Description HPO Frequency HPO Source Accession
1 inguinal hernia 31 HP:0000023
2 umbilical hernia 31 HP:0001537
3 hypertonia 31 HP:0001276
4 myoclonus 31 HP:0001336
5 hip dislocation 31 HP:0002827
6 apnea 31 HP:0002104
7 frequent falls 31 HP:0002359
8 hypokinesia 31 HP:0002375
9 aspiration 31 HP:0002835
10 exaggerated startle response 31 HP:0002267
11 nocturnal seizures 31 HP:0031951

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Abdomen External Features:
inguinal hernia
umbilical hernia

Skeletal Pelvis:
hip dislocation

Neurologic Central Nervous System:
myoclonus
frequent falls
exaggerated startle response
nocturnal seizures
hypertonicity
more
Neurologic Behavioral Psychiatric Manifestations:
alert affect
tense affect
frightened expression

Clinical features from OMIM®:

149400 (Updated 05-Apr-2021)

UMLS symptoms related to Hyperekplexia 1:


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

Drugs & Therapeutics for Hyperekplexia 1

Drugs for Hyperekplexia 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 50)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Cytarabine Approved, Investigational Phase 2 147-94-4 6253
2
Carmustine Approved, Investigational Phase 2 154-93-8 2578
3
Etoposide Approved Phase 2 33419-42-0 36462
4
Melphalan Approved Phase 2 148-82-3 4053 460612
5
Prednisone Approved, Vet_approved Phase 2 53-03-2 5865
6
Mechlorethamine Approved, Investigational Phase 2 51-75-2 4033
7
Mesna Approved, Investigational Phase 1, Phase 2 3375-50-6 598
8
Prednisolone acetate Approved, Vet_approved Phase 1, Phase 2 52-21-1
9
Sargramostim Approved, Investigational Phase 1, Phase 2 123774-72-1, 83869-56-1
10
Methylprednisolone Approved, Vet_approved Phase 1, Phase 2 83-43-2 6741
11
Prednisolone Approved, Vet_approved Phase 1, Phase 2 50-24-8 5755
12
Methylprednisolone hemisuccinate Approved Phase 1, Phase 2 2921-57-5
13
Prednisolone phosphate Approved, Vet_approved Phase 1, Phase 2 302-25-0
14
Lenograstim Approved, Investigational Phase 1, Phase 2 135968-09-1
15
rituximab Approved Phase 1, Phase 2 174722-31-7 10201696
16
Cyclophosphamide Approved, Investigational Phase 1, Phase 2 50-18-0, 6055-19-2 2907
17
Phenylalanine Approved, Investigational, Nutraceutical Phase 2 63-91-2 6140
18
Cortisone Experimental Phase 2 53-06-5 222786
19
Prednisolone hemisuccinate Experimental Phase 1, Phase 2 2920-86-7
20 Tubulin Modulators Phase 2
21 Etoposide phosphate Phase 2
22 Anti-Infective Agents Phase 2
23 Keratolytic Agents Phase 2
24 Antiviral Agents Phase 2
25 Dermatologic Agents Phase 2
26 Antimitotic Agents Phase 2
27 Antimetabolites Phase 2
28 Podophyllotoxin Phase 2 518-28-5
29 Nitrogen Mustard Compounds Phase 2
30 Gastrointestinal Agents Phase 1, Phase 2
31 polysaccharide-K Phase 1, Phase 2
32 Protective Agents Phase 1, Phase 2
33 Methylprednisolone Acetate Phase 1, Phase 2
34 Antineoplastic Agents, Immunological Phase 1, Phase 2
35 Neuroprotective Agents Phase 1, Phase 2
36 Hormone Antagonists Phase 1, Phase 2
37 Antiemetics Phase 1, Phase 2
38 Immunosuppressive Agents Phase 1, Phase 2
39 Antirheumatic Agents Phase 1, Phase 2
40 Hormones Phase 1, Phase 2
41 Alkylating Agents Phase 1, Phase 2
42 Thymoglobulin Phase 1, Phase 2
43 Antineoplastic Agents, Hormonal Phase 1, Phase 2
44 glucocorticoids Phase 1, Phase 2
45 Antibodies, Monoclonal Phase 1, Phase 2
46 Antilymphocyte Serum Phase 1, Phase 2
47 Anti-Inflammatory Agents Phase 1, Phase 2
48
L-Alanine Nutraceutical Phase 2 56-41-7 5950
49
Glutamic acid Approved, Nutraceutical 56-86-0 33032
50 Autoantibodies

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 IVIg in Glycine Receptor Antibody Positive Stiff-person Syndrome (SPS) Spectrum Disorders. Withdrawn NCT03749096 Phase 3 Intravenous Immunoglobulins, Human;Placebos
2 Efficacy of Rituximab in Patients With Stiff Person Syndrome With Anti-GAD Antibodies: A Randomized Placebo-Controlled Trial Completed NCT00091897 Phase 2 Rituximab;rituximab or placebo
3 High-Dose Immunosuppressive Therapy Using Carmustine, Etoposide, Cytarabine, and Melphalan (BEAM) + Thymoglobulin Followed by Syngeneic or Autologous Hematopoietic Cell Transplantation for Patients With Autoimmune Neurologic Diseases Recruiting NCT00716066 Phase 2 Carmustine;Cytarabine;Etoposide;Melphalan;Prednisone
4 Non-myeloablative Hematopoietic Stem Cell Transplantation for Stiff Person Syndrome (SPS) and Anti-GAD Antibody Variants: Progressive Encephalomyelitis With Rigidity and Myoclonus (PERM), and Adult Onset Autoimmune Anti-GAD Positive Cerebellar Ataxia Terminated NCT02282514 Phase 1, Phase 2 Cyclophosphamide;Mesna;rATG;Methylprednisolone;G-CSF;Rituxan
5 The Efficacy of High-Dose Intravenous Immunoglobulin Therapy in Patients With Stiff-Man Syndrome: A Double-Blind, Placebo-Controlled Trial Completed NCT00001550 Phase 1 IVIg
6 Natural History and Immunopathogenesis of Stiff Person Syndrome (SPS) Completed NCT00030940
7 Efficacy and Mechanism of Action of SCIg in Patients With Stiff Person Syndrome Not yet recruiting NCT03829826
8 Immunogenetic Characteristics in Autoimmune Encephalitis and Related Disorders: HLA Analysis Not yet recruiting NCT04106596
9 Effects of Mutations of the Glycine Gene Associated With Hyperekplexia on Central Pain Processing Terminated NCT01476514

Search NIH Clinical Center for Hyperekplexia 1

Cochrane evidence based reviews: hyperekplexia

Genetic Tests for Hyperekplexia 1

Genetic tests related to Hyperekplexia 1:

# Genetic test Affiliating Genes
1 Hyperekplexia 1 29 GLRA1 GPHN

Anatomical Context for Hyperekplexia 1

MalaCards organs/tissues related to Hyperekplexia 1:

40
Skeletal Muscle

Publications for Hyperekplexia 1

Articles related to Hyperekplexia 1:

(show top 50) (show all 52)
# Title Authors PMID Year
1
Hyperekplexia in Kurdish families: a possible GLRA1 founder mutation. 6 57
16832093 2006
2
Hereditary hyperekplexia caused by novel mutations of GLRA1 in Turkish families. 6 57
15771552 2004
3
A novel mutation (Gln266-->His) in the alpha 1 subunit of the inhibitory glycine-receptor gene (GLRA1) in hereditary hyperekplexia. 6 57
8571969 1996
4
Evidence for recessive as well as dominant forms of startle disease (hyperekplexia) caused by mutations in the alpha 1 subunit of the inhibitory glycine receptor. 6 57
7881416 1994
5
A frameshift mutation in the mouse alpha 1 glycine receptor gene (Glra1) results in progressive neurological symptoms and juvenile death. 6 57
7874121 1994
6
Mutations in the alpha 1 subunit of the inhibitory glycine receptor cause the dominant neurologic disorder, hyperekplexia. 57 6
8298642 1993
7
Genetic and radiation hybrid mapping of the hyperekplexia region on chromosome 5q. 6 57
1334371 1992
8
Utilization of genomic sequencing for population screening of immunodeficiencies in the newborn. 6
28617419 2017
9
A novel compound mutation in GLRA1 cause hyperekplexia in a Chinese boy- a case report and review of the literature. 6
28985719 2017
10
Familiar Hyperekplexia, a Potential Cause of Cautious Gait: A New Korean Case and a Systematic Review of Phenotypes. 6
28122427 2017
11
Clinical Reasoning: A 35-year-old woman with hyperstartling, stiffness, and accidental falls: A startling diagnosis. 6
28138086 2017
12
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. 6
26733802 2015
13
Disturbed neuronal ER-Golgi sorting of unassembled glycine receptors suggests altered subcellular processing is a cause of human hyperekplexia. 6
25568133 2015
14
Neonatal hyperekplexia with homozygous p.R392H mutation in GLRA1. 6
25036534 2014
15
New hyperekplexia mutations provide insight into glycine receptor assembly, trafficking, and activation mechanisms. 6
24108130 2013
16
Pathophysiological mechanisms of dominant and recessive GLRA1 mutations in hyperekplexia. 6
20631190 2010
17
Recessive hyperekplexia mutations of the glycine receptor alpha1 subunit affect cell surface integration and stability. 6
19732286 2009
18
The novel hyperekplexia allele GLRA1(S267N) affects the ethanol site of the glycine receptor. 6
18043720 2008
19
Hyperekplexia caused by dominant-negative suppression of glyra1 function. 6
17536053 2007
20
Novel missense mutation (Y279S) in the GLRA1 gene causing hyperekplexia. 6
16236274 2006
21
Recessive hyperekplexia due to a new mutation (R100H) in the GLRA1 gene. 6
16078201 2005
22
Two novel mutations of the glycine receptor gene in a Taiwanese hyperekplexia family. 6
15365143 2004
23
Functional characterization of compound heterozygosity for GlyRalpha1 mutations in the startle disease hyperekplexia. 6
12169101 2002
24
A novel recessive hyperekplexia allele GLRA1 (S231R): genotyping by MALDI-TOF mass spectrometry and functional characterisation as a determinant of cellular glycine receptor trafficking. 6
11973623 2002
25
A mutation (V260M) in the middle of the M2 pore-lining domain of the glycine receptor causes hereditary hyperekplexia. 6
11781706 2001
26
Compound heterozygosity and nonsense mutations in the alpha(1)-subunit of the inhibitory glycine receptor in hyperekplexia. 6
11702206 2001
27
Mutations in the glycine receptor alpha1 subunit (GLRA1) gene in hereditary hyperekplexia pedigrees: evidence for non-penetrance of mutation Y279C. 6
11389164 2001
28
Hyperekplexia phenotype due to compound heterozygosity for GLRA1 gene mutations. 6
10514101 1999
29
Novel GLRA1 missense mutation (P250T) in dominant hyperekplexia defines an intracellular determinant of glycine receptor channel gating. 6
9920650 1999
30
Dual requirement for gephyrin in glycine receptor clustering and molybdoenzyme activity. 57
9812897 1998
31
Startle disease in an Italian family by mutation (K276E): The alpha-subunit of the inhibiting glycine receptor. 6
9067762 1997
32
Identification of intracellular and extracellular domains mediating signal transduction in the inhibitory glycine receptor chloride channel. 6
9009272 1997
33
Analysis of GLRA1 in hereditary and sporadic hyperekplexia: a novel mutation in a family cosegregating for hyperekplexia and spastic paraparesis. 6
8733061 1996
34
A GLRA1 null mutation in recessive hyperekplexia challenges the functional role of glycine receptors. 6
8651283 1996
35
Mutational analysis of familial and sporadic hyperekplexia. 6
7611730 1995
36
The spastic mouse: aberrant splicing of glycine receptor beta subunit mRNA caused by intronic insertion of L1 element. 57
7946325 1994
37
Startle disease mutations reduce the agonist sensitivity of the human inhibitory glycine receptor. 6
7518444 1994
38
An additional family with Startle disease and a G1192A mutation at the alpha 1 subunit of the inhibitory glycine receptor gene. 6
7981700 1994
39
Low cerebrospinal fluid concentration of free gamma-aminobutyric acid in startle disease. 57
1352015 1992
40
Startle disease, or hyperekplexia: response to clonazepam and assignment of the gene (STHE) to chromosome 5q by linkage analysis. 57
1355335 1992
41
Hyperekplexia: pedigree studies in two families. 57
1897565 1991
42
Hyperekplexia: a syndrome of pathological startle responses. 57
6424556 1984
43
Familial startle disease (hyperexplexia). Electrophysiologic studies. 57
6689893 1984
44
Hyperexplexia: an inherited disorder of the startle response. 57
7127880 1982
45
Hereditary stiff-baby syndrome. 57
7293991 1981
46
Startle disease or hyperekplexia: further delineation of the syndrome. 57
6777025 1980
47
Congenital stiff-man syndrome. 57
7425575 1980
48
Familial congenital disorder resembling stiff-man syndrome. 57
4508100 1972
49
"JUMPING FRENCHMEN OF MAINE." MYRIACHIT. 57
14247390 1965
50
A family with emotionally precipitated drop seizures. 57
13594585 1958

Variations for Hyperekplexia 1

ClinVar genetic disease variations for Hyperekplexia 1:

6 (show top 50) (show all 192)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 GLRA1 NM_000171.4(GLRA1):c.896G>A (p.Arg299Gln) SNV Pathogenic 16061 rs121918408 GRCh37: 5:151230967-151230967
GRCh38: 5:151851406-151851406
2 GLRA1 NM_000171.4(GLRA1):c.815T>A (p.Ile272Asn) SNV Pathogenic 16062 rs121918409 GRCh37: 5:151231048-151231048
GRCh38: 5:151851487-151851487
3 GLRA1 NM_000171.4(GLRA1):c.920A>G (p.Tyr307Cys) SNV Pathogenic 16063 rs121918410 GRCh37: 5:151208621-151208621
GRCh38: 5:151829060-151829060
4 GLRA1 NM_000171.4(GLRA1):c.882G>C (p.Gln294His) SNV Pathogenic 16064 rs121918411 GRCh37: 5:151230981-151230981
GRCh38: 5:151851420-151851420
5 GLRA1 NM_000171.4(GLRA1):c.910A>G (p.Lys304Glu) SNV Pathogenic 16065 rs121918412 GRCh37: 5:151230953-151230953
GRCh38: 5:151851392-151851392
6 GLRA1 NM_000171.4(GLRA1):c.832C>A (p.Pro278Thr) SNV Pathogenic 16066 rs121918413 GRCh37: 5:151231031-151231031
GRCh38: 5:151851470-151851470
7 GLRA1 NM_000171.4(GLRA1):c.690C>A (p.Tyr230Ter) SNV Pathogenic 16069 rs121918415 GRCh37: 5:151234608-151234608
GRCh38: 5:151855047-151855047
8 GLRA1 NM_000171.4(GLRA1):c.862G>A (p.Val288Met) SNV Pathogenic 16070 rs121918416 GRCh37: 5:151231001-151231001
GRCh38: 5:151851440-151851440
9 GLRA1 NM_000171.4(GLRA1):c.777C>G (p.Ser259Arg) SNV Pathogenic 16071 rs121918417 GRCh37: 5:151231086-151231086
GRCh38: 5:151851525-151851525
10 GLRA1 NM_001146040.1(GLRA1):c.(?_-287)_(912+?)del Deletion Pathogenic 16072 GRCh37:
GRCh38:
11 GLRA1 NM_000171.4(GLRA1):c.884G>A (p.Ser295Asn) SNV Pathogenic 16074 rs267606848 GRCh37: 5:151230979-151230979
GRCh38: 5:151851418-151851418
12 GLRA1 NM_000171.4(GLRA1):c.737G>A (p.Arg246Gln) SNV Pathogenic 38329 rs281864916 GRCh37: 5:151231126-151231126
GRCh38: 5:151851565-151851565
13 GLRA1 NM_000171.4(GLRA1):c.801G>C (p.Trp267Cys) SNV Pathogenic 38330 rs281864917 GRCh37: 5:151231062-151231062
GRCh38: 5:151851501-151851501
14 GLRA1 NM_000171.4(GLRA1):c.892T>A (p.Ser298Thr) SNV Pathogenic 38333 rs281864920 GRCh37: 5:151230971-151230971
GRCh38: 5:151851410-151851410
15 GLRA1 NM_000171.4(GLRA1):c.920A>C (p.Tyr307Ser) SNV Pathogenic 38334 rs121918410 GRCh37: 5:151208621-151208621
GRCh38: 5:151829060-151829060
16 GLRA1 NM_000171.4(GLRA1):c.921del (p.Ser306_Tyr307insTer) Deletion Pathogenic 38335 rs281864921 GRCh37: 5:151208620-151208620
GRCh38: 5:151829059-151829059
17 GPHN NM_020806.4(GPHN):c.28A>T (p.Asn10Tyr) SNV Pathogenic 5973 rs121908539 GRCh37: 14:66975273-66975273
GRCh38: 14:66508555-66508555
18 GLRA1 NM_000171.3(GLRA1):c.(?_-287)_697+?del Deletion Pathogenic 41004 GRCh37: 5:151234601-151304397
GRCh38: 5:151855040-151924836
19 GLRA1 NM_000171.4(GLRA1):c.477-1G>A SNV Pathogenic 487340 rs762864856 GRCh37: 5:151235945-151235945
GRCh38: 5:151856384-151856384
20 GLRA1 NM_000171.4(GLRA1):c.252+2T>C SNV Pathogenic 522679 rs1554085893 GRCh37: 5:151266280-151266280
GRCh38: 5:151886719-151886719
21 GLRA1 NC_000005.10:g.(?_151924474)_(151924569_?)del Deletion Pathogenic 583758 GRCh37: 5:151304035-151304130
GRCh38: 5:151924474-151924569
22 GLRA1 NM_000171.4(GLRA1):c.22C>T (p.Arg8Ter) SNV Pathogenic 956517 GRCh37: 5:151304089-151304089
GRCh38: 5:151924528-151924528
23 GLRA1 NM_000171.4(GLRA1):c.971C>A (p.Ser324Ter) SNV Pathogenic 16073 rs121918418 GRCh37: 5:151208570-151208570
GRCh38: 5:151829009-151829009
24 GLRA1 NM_000171.4(GLRA1):c.298del (p.Arg100fs) Deletion Pathogenic 16067 rs281864915 GRCh37: 5:151239524-151239524
GRCh38: 5:151859963-151859963
25 GLRA1 NM_000171.4(GLRA1):c.523A>G (p.Met175Val) SNV Pathogenic 16068 rs121918414 GRCh37: 5:151235898-151235898
GRCh38: 5:151856337-151856337
26 GLRA1 NM_000171.4(GLRA1):c.283C>T (p.Gln95Ter) SNV Pathogenic 1031444 GRCh37: 5:151239539-151239539
GRCh38: 5:151859978-151859978
27 GLRA1 NM_000171.4(GLRA1):c.288G>T (p.Trp96Cys) SNV Pathogenic 242681 rs281864912 GRCh37: 5:151239534-151239534
GRCh38: 5:151859973-151859973
28 GLRA1 NM_000171.4(GLRA1):c.298del (p.Arg100fs) Deletion Pathogenic 16067 rs281864915 GRCh37: 5:151239524-151239524
GRCh38: 5:151859963-151859963
29 GLRA1 NM_000171.4(GLRA1):c.839G>A (p.Arg280His) SNV Pathogenic 242679 rs281864918 GRCh37: 5:151231024-151231024
GRCh38: 5:151851463-151851463
30 GLRA1 NM_000171.4(GLRA1):c.1030C>T (p.Arg344Ter) SNV Pathogenic 242682 rs281864913 GRCh37: 5:151208511-151208511
GRCh38: 5:151828950-151828950
31 GLRA1 NM_000171.4(GLRA1):c.1259G>A (p.Arg420His) SNV Pathogenic 242680 rs281864919 GRCh37: 5:151202325-151202325
GRCh38: 5:151822764-151822764
32 GLRA1 NM_000171.4(GLRA1):c.839G>A (p.Arg280His) SNV Likely pathogenic 242679 rs281864918 GRCh37: 5:151231024-151231024
GRCh38: 5:151851463-151851463
33 GLRA1 NM_000171.4(GLRA1):c.184+2T>C SNV Likely pathogenic 948004 GRCh37: 5:151271870-151271870
GRCh38: 5:151892309-151892309
34 GLRA1 NM_000171.4(GLRA1):c.569C>T (p.Thr190Met) SNV Likely pathogenic 948005 GRCh37: 5:151234729-151234729
GRCh38: 5:151855168-151855168
35 GLRA1 NM_000171.4(GLRA1):c.698-2del Deletion Likely pathogenic 969774 GRCh37: 5:151231167-151231167
GRCh38: 5:151851606-151851606
36 GLRA1 NM_000171.4(GLRA1):c.559+1G>A SNV Likely pathogenic 807424 rs1581620729 GRCh37: 5:151235861-151235861
GRCh38: 5:151856300-151856300
37 GLRA1 NM_000171.4(GLRA1):c.206G>A (p.Cys69Tyr) SNV Likely pathogenic 807425 rs1581645142 GRCh37: 5:151266328-151266328
GRCh38: 5:151886767-151886767
38 GLRA1 NM_000171.4(GLRA1):c.697+1G>A SNV Likely pathogenic 939770 GRCh37: 5:151234600-151234600
GRCh38: 5:151855039-151855039
39 GLRA1 NM_000171.4(GLRA1):c.403del (p.His135fs) Deletion Likely pathogenic 666970 rs1581623798 GRCh37: 5:151239419-151239419
GRCh38: 5:151859858-151859858
40 GLRA1 NM_000171.4(GLRA1):c.560-1G>C SNV Likely pathogenic 852093 GRCh37: 5:151234739-151234739
GRCh38: 5:151855178-151855178
41 GLRA1 NM_000171.4(GLRA1):c.1246G>A (p.Asp416Asn) SNV Likely pathogenic 545477 rs1181626947 GRCh37: 5:151202338-151202338
GRCh38: 5:151822777-151822777
42 GLRA1 NM_000171.4(GLRA1):c.859A>G (p.Thr287Ala) SNV Likely pathogenic 532835 rs1554083576 GRCh37: 5:151231004-151231004
GRCh38: 5:151851443-151851443
43 GLRA1 NM_000171.4(GLRA1):c.299G>A (p.Arg100His) SNV Likely pathogenic 38328 rs281864914 GRCh37: 5:151239523-151239523
GRCh38: 5:151859962-151859962
44 GLRA1 NM_000171.4(GLRA1):c.896G>T (p.Arg299Leu) SNV Likely pathogenic 16060 rs121918408 GRCh37: 5:151230967-151230967
GRCh38: 5:151851406-151851406
45 GLRA1 NM_000171.4(GLRA1):c.277C>T (p.Arg93Trp) SNV Likely pathogenic 225379 rs199547699 GRCh37: 5:151239545-151239545
GRCh38: 5:151859984-151859984
46 GLRA1 NM_000171.4(GLRA1):c.50T>C (p.Phe17Ser) SNV Conflicting interpretations of pathogenicity 464189 rs376426309 GRCh37: 5:151304061-151304061
GRCh38: 5:151924500-151924500
47 GLRA1 NM_000171.4(GLRA1):c.94G>A (p.Ala32Thr) SNV Conflicting interpretations of pathogenicity 352322 rs779993828 GRCh37: 5:151271962-151271962
GRCh38: 5:151892401-151892401
48 GLRA1 NM_000171.4(GLRA1):c.1296G>T (p.Met432Ile) SNV Conflicting interpretations of pathogenicity 578276 rs141039714 GRCh37: 5:151202288-151202288
GRCh38: 5:151822727-151822727
49 GLRA1 NM_000171.4(GLRA1):c.449G>A (p.Arg150Gln) SNV Conflicting interpretations of pathogenicity 352317 rs561848502 GRCh37: 5:151239373-151239373
GRCh38: 5:151859812-151859812
50 GLRA1 NM_000171.4(GLRA1):c.477-5C>T SNV Uncertain significance 906752 GRCh37: 5:151235949-151235949
GRCh38: 5:151856388-151856388

UniProtKB/Swiss-Prot genetic disease variations for Hyperekplexia 1:

72 (show all 18)
# Symbol AA change Variation ID SNP ID
1 GLRA1 p.Ile272Asn VAR_000296 rs121918409
2 GLRA1 p.Gln294His VAR_000297 rs121918411
3 GLRA1 p.Arg299Leu VAR_000298 rs121918408
4 GLRA1 p.Arg299Gln VAR_000299 rs121918408
5 GLRA1 p.Lys304Glu VAR_000300 rs121918412
6 GLRA1 p.Tyr307Cys VAR_000301 rs121918410
7 GLRA1 p.Pro278Thr VAR_010112 rs121918413
8 GLRA1 p.Arg280His VAR_010113 rs281864918
9 GLRA1 p.Arg428His VAR_010114 rs281864919
10 GLRA1 p.Arg93Trp VAR_075418 rs199547699
11 GLRA1 p.Arg100Cys VAR_075419
12 GLRA1 p.Arg246Trp VAR_075420 rs751659671
13 GLRA1 p.Gln254Glu VAR_075421
14 GLRA1 p.Pro258Ser VAR_075422
15 GLRA1 p.Val308Met VAR_075423
16 GLRA1 p.Leu319Pro VAR_075424
17 GLRA1 p.Asp424Ala VAR_075425
18 GLRA1 p.Arg450His VAR_075426 rs200130685

Expression for Hyperekplexia 1

Search GEO for disease gene expression data for Hyperekplexia 1.

Pathways for Hyperekplexia 1

GO Terms for Hyperekplexia 1

Cellular components related to Hyperekplexia 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell projection GO:0042995 9.32 GPHN GLRA1
2 cell junction GO:0030054 9.26 GPHN GLRA1
3 synapse GO:0045202 9.16 GPHN GLRA1
4 dendrite GO:0030425 8.96 GPHN GLRA1
5 postsynaptic membrane GO:0045211 8.62 GPHN GLRA1

Sources for Hyperekplexia 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....