HKPX2
MCID: HYP510
MIFTS: 21

Hyperekplexia 2 (HKPX2)

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

Aliases & Classifications for Hyperekplexia 2

MalaCards integrated aliases for Hyperekplexia 2:

Name: Hyperekplexia 2 57 12 75 29 6 73
Hkpx2 57 12 75
Hyperekplexia 2, Autosomal Recessive 13
Autosomal Recessive Hyperekplexia 2 75
Hyperekplexia, Type 2 40

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
hyperekplexia 2:
Onset and clinical course infantile onset
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 614619
Disease Ontology 12 DOID:0060697
ICD10 33 G25.8
MedGen 42 C3553291
MeSH 44 D000071017
UMLS 73 C3553291

Summaries for Hyperekplexia 2

UniProtKB/Swiss-Prot : 75 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). Affiliated tissues include testes, and related phenotypes are hyperreflexia and hypertonia

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

Description from OMIM: 614619

Related Diseases for Hyperekplexia 2

Symptoms & Phenotypes for Hyperekplexia 2

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Hyperekplexia 2:

32 (show all 8)
# Description HPO Frequency HPO Source Accession
1 hyperreflexia 32 HP:0001347
2 hypertonia 32 HP:0001276
3 myoclonus 32 HP:0001336
4 myopia 32 HP:0000545
5 astigmatism 32 HP:0000483
6 esotropia 32 very rare (1%) HP:0000565
7 exaggerated startle response 32 HP:0002267
8 glabellar reflex 32 HP:0030904

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

MalaCards organs/tissues related to Hyperekplexia 2:

41
Testes

Publications for Hyperekplexia 2

Variations for Hyperekplexia 2

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

75
# 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

ClinVar genetic disease variations for Hyperekplexia 2:

6 (show all 22)
# Gene Variation Type Significance SNP ID Assembly Location
1 GLRB NM_000824.4(GLRB): c.752G> A (p.Gly251Asp) single nucleotide variant Pathogenic rs121909749 GRCh38 Chromosome 4, 157143807: 157143807
2 GLRB NM_000824.4(GLRB): c.610+5G> A single nucleotide variant Pathogenic rs281864922 GRCh37 Chromosome 4, 158058043: 158058043
3 GLRB NM_000824.4(GLRB): c.752G> A (p.Gly251Asp) single nucleotide variant Pathogenic rs121909749 GRCh37 Chromosome 4, 158064959: 158064959
4 GLRB NM_000824.4(GLRB): c.610+5G> A single nucleotide variant Pathogenic rs281864922 GRCh38 Chromosome 4, 157136891: 157136891
5 GLRB NM_000824.4(GLRB): c.596T> G (p.Met199Arg) single nucleotide variant Pathogenic rs398122856 GRCh37 Chromosome 4, 158058024: 158058024
6 GLRB NM_000824.4(GLRB): c.596T> G (p.Met199Arg) single nucleotide variant Pathogenic rs398122856 GRCh38 Chromosome 4, 157136872: 157136872
7 GLRB NM_000824.4(GLRB): c.1368_1370delCAA (p.Asn456del) deletion Conflicting interpretations of pathogenicity rs886059187 GRCh37 Chromosome 4, 158091754: 158091756
8 GLRB NM_000824.4(GLRB): c.1368_1370delCAA (p.Asn456del) deletion Conflicting interpretations of pathogenicity rs886059187 GRCh38 Chromosome 4, 157170602: 157170604
9 GLRB NM_000824.4(GLRB): c.527+7T> C single nucleotide variant Likely benign rs138020195 GRCh37 Chromosome 4, 158057857: 158057857
10 GLRB NM_000824.4(GLRB): c.527+7T> C single nucleotide variant Likely benign rs138020195 GRCh38 Chromosome 4, 157136705: 157136705
11 GLRB NM_000824.4(GLRB): c.798_800delCGGinsGATGATGGGGGT (p.Gly267delinsMetMetGlyVal) indel Uncertain significance GRCh38 Chromosome 4, 157143853: 157143855
12 GLRB NM_000824.4(GLRB): c.798_800delCGGinsGATGATGGGGGT (p.Gly267delinsMetMetGlyVal) indel Uncertain significance GRCh37 Chromosome 4, 158065005: 158065007
13 GLRB NM_000824.4(GLRB): c.798C> T (p.Val266=) single nucleotide variant Likely benign rs148773767 GRCh37 Chromosome 4, 158065005: 158065005
14 GLRB NM_000824.4(GLRB): c.798C> T (p.Val266=) single nucleotide variant Likely benign rs148773767 GRCh38 Chromosome 4, 157143853: 157143853
15 GLRB NM_000824.4(GLRB): c.1221dup (p.Val408Serfs) duplication Uncertain significance GRCh38 Chromosome 4, 157170455: 157170455
16 GLRB NM_000824.4(GLRB): c.1221dup (p.Val408Serfs) duplication Uncertain significance GRCh37 Chromosome 4, 158091607: 158091607
17 GLRB NM_000824.4(GLRB): c.123-2A> G single nucleotide variant Pathogenic GRCh38 Chromosome 4, 157120554: 157120554
18 GLRB NM_000824.4(GLRB): c.123-2A> G single nucleotide variant Pathogenic GRCh37 Chromosome 4, 158041706: 158041706
19 GLRB NM_000824.4(GLRB): c.448dup (p.Ser150Lysfs) duplication Pathogenic GRCh38 Chromosome 4, 157136619: 157136619
20 GLRB NM_000824.4(GLRB): c.448dup (p.Ser150Lysfs) duplication Pathogenic GRCh37 Chromosome 4, 158057771: 158057771
21 GLRB NM_000824.4(GLRB): c.472delC (p.Gln158Argfs) deletion Pathogenic GRCh38 Chromosome 4, 157136643: 157136643
22 GLRB NM_000824.4(GLRB): c.472delC (p.Gln158Argfs) deletion Pathogenic GRCh37 Chromosome 4, 158057795: 158057795

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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
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62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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