HKPX2
MCID: HYP510
MIFTS: 25

Hyperekplexia 2 (HKPX2)

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

Aliases & Classifications for Hyperekplexia 2

MalaCards integrated aliases for Hyperekplexia 2:

Name: Hyperekplexia 2 57 12 72 29 6 70
Hkpx2 57 12 72
Hyperekplexia 2, Autosomal Recessive 13
Autosomal Recessive Hyperekplexia 2 72
Hyperekplexia, Type 2 39

Characteristics:

OMIM®:

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

Miscellaneous:
onset in infancy
tends to improve with age
favorable response to clonazepam


HPO:

31
hyperekplexia 2:
Inheritance autosomal recessive inheritance
Onset and clinical course infantile onset


Classifications:



External Ids:

Disease Ontology 12 DOID:0060697
OMIM® 57 614619
OMIM Phenotypic Series 57 PS149400
MeSH 44 D000071017
ICD10 32 G25.8
MedGen 41 C3553291
UMLS 70 C3553291

Summaries for Hyperekplexia 2

UniProtKB/Swiss-Prot : 72 Hyperekplexia 2: 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.

MalaCards based summary : Hyperekplexia 2, is also known as hkpx2. An important gene associated with Hyperekplexia 2 is GLRB (Glycine Receptor Beta). Related phenotypes are esotropia and hyperreflexia

Disease Ontology : 12 A hyperekplexia that has material basis in compound heterozygous or homozygous mutation in the GLRB gene on chromosome 4q32.

More information from OMIM: 614619 PS149400

Related Diseases for Hyperekplexia 2

Symptoms & Phenotypes for Hyperekplexia 2

Human phenotypes related to Hyperekplexia 2:

31 (show all 8)
# Description HPO Frequency HPO Source Accession
1 esotropia 31 very rare (1%) HP:0000565
2 hyperreflexia 31 HP:0001347
3 hypertonia 31 HP:0001276
4 myoclonus 31 HP:0001336
5 myopia 31 HP:0000545
6 astigmatism 31 HP:0000483
7 exaggerated startle response 31 HP:0002267
8 glabellar reflex 31 HP:0030904

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
hyperreflexia
myoclonus
exaggerated startle response
mildly delayed motor development
generalized stiffness at birth
more
Head And Neck Eyes:
myopia (1 family)
astigmatism (1 family)
esotropia (1 family)

Neurologic Behavioral Psychiatric Manifestations:
phobias

Prenatal Manifestations Movement:
increased fetal movements

Clinical features from OMIM®:

614619 (Updated 05-Apr-2021)

Drugs & Therapeutics for Hyperekplexia 2

Search Clinical Trials , NIH Clinical Center for Hyperekplexia 2

Genetic Tests for Hyperekplexia 2

Genetic tests related to Hyperekplexia 2:

# Genetic test Affiliating Genes
1 Hyperekplexia 2 29 GLRB

Anatomical Context for Hyperekplexia 2

Publications for Hyperekplexia 2

Articles related to Hyperekplexia 2:

# Title Authors PMID Year
1
Novel mutation in GLRB in a large family with hereditary hyperekplexia. 6 57
21391991 2012
2
Hyperekplexia associated with compound heterozygote mutations in the beta-subunit of the human inhibitory glycine receptor (GLRB). 6 57
11929858 2002
3
GLRB is the third major gene of effect in hyperekplexia. 6
23184146 2013
4
Latah: an Indonesian startle syndrome. 61
23283702 2013
5
Hyperekplexia phenotype due to compound heterozygosity for GLRA1 gene mutations. 61
10514101 1999
6
Properties of human glycine receptors containing the hyperekplexia mutation alpha1(K276E), expressed in Xenopus oocytes. 61
9490812 1998

Variations for Hyperekplexia 2

ClinVar genetic disease variations for Hyperekplexia 2:

6 (show top 50) (show all 88)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 GLRB NM_000824.5(GLRB):c.752G>A (p.Gly251Asp) SNV Pathogenic 16058 rs121909749 GRCh37: 4:158064959-158064959
GRCh38: 4:157143807-157143807
2 GLRB NM_000824.5(GLRB):c.596T>G (p.Met199Arg) SNV Pathogenic 31539 rs398122856 GRCh37: 4:158058024-158058024
GRCh38: 4:157136872-157136872
3 GLRB NM_000824.5(GLRB):c.448dup (p.Ser150fs) Duplication Pathogenic 574411 rs1560962569 GRCh37: 4:158057765-158057766
GRCh38: 4:157136613-157136614
4 GLRB NM_000824.5(GLRB):c.123-2A>G SNV Pathogenic 574419 rs1415892964 GRCh37: 4:158041706-158041706
GRCh38: 4:157120554-157120554
5 GLRB NM_000824.5(GLRB):c.472del (p.Gln158fs) Deletion Pathogenic 582806 rs1560962636 GRCh37: 4:158057793-158057793
GRCh38: 4:157136641-157136641
6 GLRB NM_000824.5(GLRB):c.24del (p.Phe9_Leu10insTer) Deletion Pathogenic 653331 rs1380139789 GRCh37: 4:157999199-157999199
GRCh38: 4:157078047-157078047
7 GLRB NM_000824.5(GLRB):c.122+1G>A SNV Pathogenic 802099 rs1579175843 GRCh37: 4:157999299-157999299
GRCh38: 4:157078147-157078147
8 GLRB NC_000004.12:g.(?_157170412)_(157170748_?)del Deletion Likely pathogenic 663950 GRCh37: 4:158091564-158091900
GRCh38: 4:157170412-157170748
9 GLRB NM_000824.5(GLRB):c.610+5G>A SNV Likely pathogenic 16059 rs281864922 GRCh37: 4:158058043-158058043
GRCh38: 4:157136891-157136891
10 GLRB NM_000824.5(GLRB):c.1037A>G (p.Glu346Gly) SNV Uncertain significance 347926 rs758939135 GRCh37: 4:158074002-158074002
GRCh38: 4:157152850-157152850
11 GLRB NM_000824.5(GLRB):c.692T>C (p.Phe231Ser) SNV Uncertain significance 347920 rs763516130 GRCh37: 4:158060042-158060042
GRCh38: 4:157138890-157138890
12 GLRB NM_000824.5(GLRB):c.*1243A>G SNV Uncertain significance 347949 rs575496039 GRCh37: 4:158093123-158093123
GRCh38: 4:157171971-157171971
13 GLRB NM_000824.5(GLRB):c.185G>A (p.Arg62Lys) SNV Uncertain significance 651260 rs144279427 GRCh37: 4:158041770-158041770
GRCh38: 4:157120618-157120618
14 GLRB NM_000824.5(GLRB):c.*1013A>T SNV Uncertain significance 347946 rs886059191 GRCh37: 4:158092893-158092893
GRCh38: 4:157171741-157171741
15 GLRB NM_001166061.1(GLRB):c.-182C>T SNV Uncertain significance 347910 rs574809389 GRCh37: 4:157997297-157997297
GRCh38: 4:157076145-157076145
16 GLRB NM_000824.5(GLRB):c.*454A>G SNV Uncertain significance 347936 rs753501866 GRCh37: 4:158092334-158092334
GRCh38: 4:157171182-157171182
17 GLRB NM_000824.5(GLRB):c.*162A>G SNV Uncertain significance 347933 rs528903429 GRCh37: 4:158092042-158092042
GRCh38: 4:157170890-157170890
18 GLRB NM_000824.5(GLRB):c.*516G>A SNV Uncertain significance 347939 rs886059189 GRCh37: 4:158092396-158092396
GRCh38: 4:157171244-157171244
19 GLRB NM_000824.5(GLRB):c.*789A>G SNV Uncertain significance 347942 rs567848682 GRCh37: 4:158092669-158092669
GRCh38: 4:157171517-157171517
20 GLRB NM_000824.5(GLRB):c.798_800delinsGATGATGGGGGT (p.Gly267delinsMetMetGlyVal) Indel Uncertain significance 540367 rs1553998291 GRCh37: 4:158065005-158065007
GRCh38: 4:157143853-157143855
21 GLRB NM_000824.5(GLRB):c.1221dup (p.Val408fs) Duplication Uncertain significance 540368 rs746631259 GRCh37: 4:158091601-158091602
GRCh38: 4:157170449-157170450
22 GLRB NM_000824.5(GLRB):c.1342C>T (p.Leu448Phe) SNV Uncertain significance 863065 GRCh37: 4:158091728-158091728
GRCh38: 4:157170576-157170576
23 GLRB NM_000824.5(GLRB):c.-89C>T SNV Uncertain significance 901219 GRCh37: 4:157997390-157997390
GRCh38: 4:157076238-157076238
24 GLRB NM_000824.5(GLRB):c.37A>G (p.Ile13Val) SNV Uncertain significance 901767 GRCh37: 4:157999213-157999213
GRCh38: 4:157078061-157078061
25 GLRB NM_000824.5(GLRB):c.149G>A (p.Arg50Gln) SNV Uncertain significance 901769 GRCh37: 4:158041734-158041734
GRCh38: 4:157120582-157120582
26 GLRB NM_000824.5(GLRB):c.*202T>C SNV Uncertain significance 901840 GRCh37: 4:158092082-158092082
GRCh38: 4:157170930-157170930
27 GLRB NM_000824.5(GLRB):c.541C>G (p.Leu181Val) SNV Uncertain significance 902678 GRCh37: 4:158057969-158057969
GRCh38: 4:157136817-157136817
28 GLRB NM_000824.5(GLRB):c.*594A>T SNV Uncertain significance 902745 GRCh37: 4:158092474-158092474
GRCh38: 4:157171322-157171322
29 GLRB NM_000824.5(GLRB):c.*694T>C SNV Uncertain significance 902746 GRCh37: 4:158092574-158092574
GRCh38: 4:157171422-157171422
30 GLRB NM_000824.5(GLRB):c.*750G>A SNV Uncertain significance 902747 GRCh37: 4:158092630-158092630
GRCh38: 4:157171478-157171478
31 GLRB NM_000824.5(GLRB):c.*782T>C SNV Uncertain significance 902748 GRCh37: 4:158092662-158092662
GRCh38: 4:157171510-157171510
32 GLRB NM_000824.5(GLRB):c.*787C>T SNV Uncertain significance 902749 GRCh37: 4:158092667-158092667
GRCh38: 4:157171515-157171515
33 GLRB NM_000824.5(GLRB):c.961C>T (p.Pro321Ser) SNV Uncertain significance 951689 GRCh37: 4:158073926-158073926
GRCh38: 4:157152774-157152774
34 GLRB NM_000824.5(GLRB):c.1431_1452dup (p.Phe485fs) Duplication Uncertain significance 970188 GRCh37: 4:158091813-158091814
GRCh38: 4:157170661-157170662
35 GLRB NM_000824.5(GLRB):c.226A>C (p.Lys76Gln) SNV Uncertain significance 1008174 GRCh37: 4:158041811-158041811
GRCh38: 4:157120659-157120659
36 GLRB NM_000824.5(GLRB):c.1365_1367CAA[1] (p.Asn456del) Microsatellite Uncertain significance 347928 rs373895476 GRCh37: 4:158091749-158091751
GRCh38: 4:157170597-157170599
37 GLRB NM_000824.5(GLRB):c.242A>G (p.Asp81Gly) SNV Uncertain significance 643650 rs748982851 GRCh37: 4:158043494-158043494
GRCh38: 4:157122342-157122342
38 GLRB NM_000824.5(GLRB):c.307G>A (p.Val103Ile) SNV Uncertain significance 860241 GRCh37: 4:158057630-158057630
GRCh38: 4:157136478-157136478
39 GLRB NM_000824.5(GLRB):c.298-6del Deletion Uncertain significance 1018374 GRCh37: 4:158057615-158057615
GRCh38: 4:157136463-157136463
40 GLRB NM_000824.5(GLRB):c.34T>G (p.Leu12Val) SNV Uncertain significance 1023886 GRCh37: 4:157999210-157999210
GRCh38: 4:157078058-157078058
41 GLRB NM_000824.5(GLRB):c.*437A>G SNV Uncertain significance 901842 GRCh37: 4:158092317-158092317
GRCh38: 4:157171165-157171165
42 GLRB NM_000824.5(GLRB):c.210G>A (p.Arg70=) SNV Uncertain significance 902675 GRCh37: 4:158041795-158041795
GRCh38: 4:157120643-157120643
43 GLRB NM_000824.5(GLRB):c.377A>T (p.Asp126Val) SNV Uncertain significance 902676 GRCh37: 4:158057700-158057700
GRCh38: 4:157136548-157136548
44 GLRB NM_000824.5(GLRB):c.423T>C (p.Pro141=) SNV Likely benign 902677 GRCh37: 4:158057746-158057746
GRCh38: 4:157136594-157136594
45 GLRB NM_000824.5(GLRB):c.624T>C (p.Thr208=) SNV Likely benign 785730 rs200824493 GRCh37: 4:158059974-158059974
GRCh38: 4:157138822-157138822
46 GLRB NM_000824.5(GLRB):c.798C>T (p.Val266=) SNV Likely benign 540369 rs148773767 GRCh37: 4:158065005-158065005
GRCh38: 4:157143853-157143853
47 GLRB NM_000824.5(GLRB):c.222C>T (p.Asn74=) SNV Likely benign 726330 rs147802211 GRCh37: 4:158041807-158041807
GRCh38: 4:157120655-157120655
48 GLRB NM_000824.5(GLRB):c.1020G>A (p.Gly340=) SNV Likely benign 752187 rs1302379622 GRCh37: 4:158073985-158073985
GRCh38: 4:157152833-157152833
49 GLRB NM_000824.5(GLRB):c.1385C>T (p.Ala462Val) SNV Benign/Likely benign 347929 rs148031091 GRCh37: 4:158091771-158091771
GRCh38: 4:157170619-157170619
50 GLRB NM_000824.5(GLRB):c.229+8T>G SNV Benign/Likely benign 347916 rs373221915 GRCh37: 4:158041822-158041822
GRCh38: 4:157120670-157120670

UniProtKB/Swiss-Prot genetic disease variations for Hyperekplexia 2:

72
# Symbol AA change Variation ID SNP ID
1 GLRB p.Gly251Asp VAR_035070 rs121909749
2 GLRB p.Met199Arg VAR_068246 rs398122856
3 GLRB p.Leu307Arg VAR_075502
4 GLRB p.Trp332Cys VAR_075503

Expression for Hyperekplexia 2

Search GEO for disease gene expression data for Hyperekplexia 2.

Pathways for Hyperekplexia 2

GO Terms for Hyperekplexia 2

Sources for Hyperekplexia 2

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
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