MCID: HYP699
MIFTS: 26

Hyperekplexia 1

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

Aliases & Classifications for Hyperekplexia 1

MalaCards integrated aliases for Hyperekplexia 1:

Name: Hyperekplexia 1 57 12 75 15
Hkpx1 57 12 75
Exaggerated Startle Reaction 57 75
Stiff-Baby Syndrome 57 75
Kok Disease 57 75
Sthe 57 75
Hyperekplexia, Hereditary 1, Autosomal Dominant or Recessive 13
Hyperekplexia Hereditary 1 Autosomal Dominant or Recessive 75
Stiff-Person Syndrome, Congenital 57
Congenital Stiff-Person Syndrome 75
Stiff-Man Syndrome, Congenital 57
Startle Reaction, Exaggerated 57
Congenital Stiff-Man Syndrome 75
Hereditary Hyperexplexia 1 75
Startle Disease, Familial 57
Familial Startle Disease 75
Hereditary Hyperexplexia 73
Stiff-Person Syndrome 73
Hyperekplexia 44

Characteristics:

OMIM:

57
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:

32
hyperekplexia 1:
Onset and clinical course infantile onset
Inheritance autosomal recessive inheritance autosomal dominant inheritance


Classifications:



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)

MalaCards based summary : Hyperekplexia 1, also known as hkpx1, is related to hyperekplexia and hyperekplexia 4, and has symptoms including fever, muscle rigidity and opisthotonus. An important gene associated with Hyperekplexia 1 is GLRA1 (Glycine Receptor Alpha 1). Affiliated tissues include skeletal muscle, and related phenotypes are seizures and inguinal 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 : 75 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:

# Related Disease Score Top Affiliating Genes
1 hyperekplexia 11.3
2 hyperekplexia 4 11.0

Symptoms & Phenotypes for Hyperekplexia 1

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Hyperekplexia 1:

32 (show all 11)
# Description HPO Frequency HPO Source Accession
1 seizures 32 HP:0001250
2 inguinal hernia 32 HP:0000023
3 umbilical hernia 32 HP:0001537
4 hypertonia 32 HP:0001276
5 myoclonus 32 HP:0001336
6 apnea 32 HP:0002104
7 hip dislocation 32 HP:0002827
8 hypokinesia 32 HP:0002375
9 aspiration 32 HP:0002835
10 frequent falls 32 HP:0002359
11 exaggerated startle response 32 HP:0002267

UMLS symptoms related to Hyperekplexia 1:


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

Drugs & Therapeutics for Hyperekplexia 1

Search Clinical Trials , NIH Clinical Center for Hyperekplexia 1

Cochrane evidence based reviews: hyperekplexia

Genetic Tests for Hyperekplexia 1

Anatomical Context for Hyperekplexia 1

MalaCards organs/tissues related to Hyperekplexia 1:

41
Skeletal Muscle

Publications for Hyperekplexia 1

Articles related to Hyperekplexia 1:

# Title Authors Year
1
An autopsy case of Creutzfeldt-Jakob disease with a prion protein gene codon 180 mutation presenting with pathological laughing and an exaggerated startle reaction. ( 28703419 )
2017

Variations for Hyperekplexia 1

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

75 (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

ClinVar genetic disease variations for Hyperekplexia 1:

6
(show top 50) (show all 127)
# 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> T (p.Arg299Leu) single nucleotide variant Pathogenic rs121918408 GRCh38 Chromosome 5, 151851406: 151851406
3 GLRA1 NM_001146040.1(GLRA1): c.896G> A (p.Arg299Gln) single nucleotide variant Pathogenic rs121918408 GRCh37 Chromosome 5, 151230967: 151230967
4 GLRA1 NM_001146040.1(GLRA1): c.896G> A (p.Arg299Gln) single nucleotide variant Pathogenic rs121918408 GRCh38 Chromosome 5, 151851406: 151851406
5 GLRA1 NM_001146040.1(GLRA1): c.815T> A (p.Ile272Asn) single nucleotide variant Pathogenic rs121918409 GRCh37 Chromosome 5, 151231048: 151231048
6 GLRA1 NM_001146040.1(GLRA1): c.815T> A (p.Ile272Asn) single nucleotide variant Pathogenic rs121918409 GRCh38 Chromosome 5, 151851487: 151851487
7 GLRA1 NM_001146040.1(GLRA1): c.(?_-287)_(912+?)del deletion Pathogenic
8 GLRA1 NM_001146040.1(GLRA1): c.920A> G (p.Tyr307Cys) single nucleotide variant Pathogenic rs121918410 GRCh37 Chromosome 5, 151208621: 151208621
9 GLRA1 NM_001146040.1(GLRA1): c.920A> G (p.Tyr307Cys) single nucleotide variant Pathogenic rs121918410 GRCh38 Chromosome 5, 151829060: 151829060
10 GLRA1 NM_001146040.1(GLRA1): c.882G> C (p.Gln294His) single nucleotide variant Pathogenic rs121918411 GRCh37 Chromosome 5, 151230981: 151230981
11 GLRA1 NM_001146040.1(GLRA1): c.882G> C (p.Gln294His) single nucleotide variant Pathogenic rs121918411 GRCh38 Chromosome 5, 151851420: 151851420
12 GLRA1 NM_001146040.1(GLRA1): c.910A> G (p.Lys304Glu) single nucleotide variant Pathogenic rs121918412 GRCh37 Chromosome 5, 151230953: 151230953
13 GLRA1 NM_001146040.1(GLRA1): c.910A> G (p.Lys304Glu) single nucleotide variant Pathogenic rs121918412 GRCh38 Chromosome 5, 151851392: 151851392
14 GLRA1 NM_001146040.1(GLRA1): c.832C> A (p.Pro278Thr) single nucleotide variant Pathogenic rs121918413 GRCh37 Chromosome 5, 151231031: 151231031
15 GLRA1 NM_001146040.1(GLRA1): c.832C> A (p.Pro278Thr) single nucleotide variant Pathogenic rs121918413 GRCh38 Chromosome 5, 151851470: 151851470
16 GLRA1 NM_000171.3(GLRA1): c.298delC (p.Arg100Alafs) deletion Pathogenic rs281864915 GRCh37 Chromosome 5, 151239524: 151239524
17 GLRA1 NM_000171.3(GLRA1): c.298delC (p.Arg100Alafs) deletion Pathogenic rs281864915 GRCh38 Chromosome 5, 151859963: 151859963
18 GLRA1 NM_000171.3(GLRA1): c.523A> G (p.Met175Val) single nucleotide variant Pathogenic rs121918414 GRCh37 Chromosome 5, 151235898: 151235898
19 GLRA1 NM_000171.3(GLRA1): c.523A> G (p.Met175Val) single nucleotide variant Pathogenic rs121918414 GRCh38 Chromosome 5, 151856337: 151856337
20 GLRA1 NM_001146040.1(GLRA1): c.690C> A (p.Tyr230Ter) single nucleotide variant Pathogenic rs121918415 GRCh37 Chromosome 5, 151234608: 151234608
21 GLRA1 NM_001146040.1(GLRA1): c.690C> A (p.Tyr230Ter) single nucleotide variant Pathogenic rs121918415 GRCh38 Chromosome 5, 151855047: 151855047
22 GLRA1 NM_001146040.1(GLRA1): c.862G> A (p.Val288Met) single nucleotide variant Pathogenic rs121918416 GRCh37 Chromosome 5, 151231001: 151231001
23 GLRA1 NM_001146040.1(GLRA1): c.862G> A (p.Val288Met) single nucleotide variant Pathogenic rs121918416 GRCh38 Chromosome 5, 151851440: 151851440
24 GLRA1 NM_001146040.1(GLRA1): c.777C> G (p.Ser259Arg) single nucleotide variant Pathogenic rs121918417 GRCh37 Chromosome 5, 151231086: 151231086
25 GLRA1 NM_001146040.1(GLRA1): c.777C> G (p.Ser259Arg) single nucleotide variant Pathogenic rs121918417 GRCh38 Chromosome 5, 151851525: 151851525
26 GLRA1 NM_000171.3(GLRA1): c.971C> A (p.Ser324Ter) single nucleotide variant Pathogenic rs121918418 GRCh37 Chromosome 5, 151208570: 151208570
27 GLRA1 NM_000171.3(GLRA1): c.971C> A (p.Ser324Ter) single nucleotide variant Pathogenic rs121918418 GRCh38 Chromosome 5, 151829009: 151829009
28 GLRA1 NM_001146040.1(GLRA1): c.884G> A (p.Ser295Asn) single nucleotide variant Pathogenic rs267606848 GRCh37 Chromosome 5, 151230979: 151230979
29 GLRA1 NM_001146040.1(GLRA1): c.884G> A (p.Ser295Asn) single nucleotide variant Pathogenic rs267606848 GRCh38 Chromosome 5, 151851418: 151851418
30 GLRA1 NM_001146040.1(GLRA1): c.299G> A (p.Arg100His) single nucleotide variant Pathogenic rs281864914 GRCh37 Chromosome 5, 151239523: 151239523
31 GLRA1 NM_001146040.1(GLRA1): c.299G> A (p.Arg100His) single nucleotide variant Pathogenic rs281864914 GRCh38 Chromosome 5, 151859962: 151859962
32 GLRA1 NM_001146040.1(GLRA1): c.737G> A (p.Arg246Gln) single nucleotide variant Pathogenic rs281864916 GRCh37 Chromosome 5, 151231126: 151231126
33 GLRA1 NM_001146040.1(GLRA1): c.737G> A (p.Arg246Gln) single nucleotide variant Pathogenic rs281864916 GRCh38 Chromosome 5, 151851565: 151851565
34 GLRA1 NM_001146040.1(GLRA1): c.801G> C (p.Trp267Cys) single nucleotide variant Pathogenic rs281864917 GRCh37 Chromosome 5, 151231062: 151231062
35 GLRA1 NM_001146040.1(GLRA1): c.801G> C (p.Trp267Cys) single nucleotide variant Pathogenic rs281864917 GRCh38 Chromosome 5, 151851501: 151851501
36 GLRA1 NM_001146040.1(GLRA1): c.892T> A (p.Ser298Thr) single nucleotide variant Pathogenic rs281864920 GRCh37 Chromosome 5, 151230971: 151230971
37 GLRA1 NM_001146040.1(GLRA1): c.892T> A (p.Ser298Thr) single nucleotide variant Pathogenic rs281864920 GRCh38 Chromosome 5, 151851410: 151851410
38 GLRA1 NM_001146040.1(GLRA1): c.920A> C (p.Tyr307Ser) single nucleotide variant Pathogenic rs121918410 GRCh37 Chromosome 5, 151208621: 151208621
39 GLRA1 NM_001146040.1(GLRA1): c.920A> C (p.Tyr307Ser) single nucleotide variant Pathogenic rs121918410 GRCh38 Chromosome 5, 151829060: 151829060
40 GLRA1 NM_001146040.1(GLRA1): c.921delT (p.Tyr307Terfs) deletion Pathogenic rs281864921 GRCh37 Chromosome 5, 151208620: 151208620
41 GLRA1 NM_001146040.1(GLRA1): c.921delT (p.Tyr307Terfs) deletion Pathogenic rs281864921 GRCh38 Chromosome 5, 151829059: 151829059
42 GLRA1 NM_000171.3(GLRA1): c.1030C> T (p.Arg344Ter) single nucleotide variant Likely pathogenic rs281864913 GRCh37 Chromosome 5, 151208511: 151208511
43 GLRA1 NM_000171.3(GLRA1): c.1030C> T (p.Arg344Ter) single nucleotide variant Likely pathogenic rs281864913 GRCh38 Chromosome 5, 151828950: 151828950
44 GLRA1 NM_000171.3(GLRA1): c.1259G> A (p.Arg420His) single nucleotide variant Pathogenic rs281864919 GRCh37 Chromosome 5, 151202325: 151202325
45 GLRA1 NM_000171.3(GLRA1): c.1259G> A (p.Arg420His) single nucleotide variant Pathogenic rs281864919 GRCh38 Chromosome 5, 151822764: 151822764
46 GLRA1 NM_000171.3(GLRA1): c.(?_-287)_697+?del deletion Pathogenic GRCh38 Chromosome 5, 151855040: 151924836
47 GLRA1 NM_000171.3(GLRA1): c.(?_-287)_697+?del deletion Pathogenic GRCh37 Chromosome 5, 151234601: 151304397
48 GLRA1 NM_001146040.1(GLRA1): c.593G> C (p.Trp198Ser) single nucleotide variant not provided rs202247813 GRCh38 Chromosome 5, 151855144: 151855144
49 GLRA1 NM_001146040.1(GLRA1): c.593G> C (p.Trp198Ser) single nucleotide variant not provided rs202247813 GRCh37 Chromosome 5, 151234705: 151234705
50 GLRA1 NM_000171.3(GLRA1): c.277C> T (p.Arg93Trp) single nucleotide variant Likely pathogenic rs199547699 GRCh38 Chromosome 5, 151859984: 151859984

Expression for Hyperekplexia 1

Search GEO for disease gene expression data for Hyperekplexia 1.

Pathways for Hyperekplexia 1

GO Terms for Hyperekplexia 1

Sources for Hyperekplexia 1

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