MCID: HYP510
MIFTS: 20

Hyperekplexia 2

Categories: Genetic diseases, Neuronal diseases, Rare diseases, Metabolic 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:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 614619
Disease Ontology 12 DOID:0060697
ICD10 33 G25.8
MeSH 44 D013216
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 hypertonia and esotropia

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
Head And Neck Eyes:
esotropia (1 family)
myopia (1 family)
astigmatism (1 family)

Neurologic Behavioral Psychiatric Manifestations:
phobias

Neurologic Central Nervous System:
generalized stiffness at birth
exaggerated startle response
intermittent tonic stiffening
hyperreflexia
hyperreactivity
more
Prenatal Manifestations Movement:
increased fetal movements


Clinical features from OMIM:

614619

Human phenotypes related to Hyperekplexia 2:

32
# Description HPO Frequency HPO Source Accession
1 hypertonia 32 HP:0001276
2 esotropia 32 very rare (1%) HP:0000565
3 exaggerated startle response 32 HP:0002267

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 16)
# Gene Variation Type Significance SNP ID Assembly Location
1 GLRB NM_000824.4(GLRB): c.752G> A (p.Gly251Asp) single nucleotide variant Pathogenic rs121909749 GRCh37 Chromosome 4, 158064959: 158064959
2 GLRB NM_000824.4(GLRB): c.752G> A (p.Gly251Asp) single nucleotide variant Pathogenic rs121909749 GRCh38 Chromosome 4, 157143807: 157143807
3 GLRB NM_000824.4(GLRB): c.610+5G> A single nucleotide variant Pathogenic rs281864922 GRCh37 Chromosome 4, 158058043: 158058043
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 GRCh37 Chromosome 4, 158065005: 158065007
12 GLRB NM_000824.4(GLRB): c.798_800delCGGinsGATGATGGGGGT (p.Gly267delinsMetMetGlyVal) indel Uncertain significance GRCh38 Chromosome 4, 157143853: 157143855
13 GLRB NM_000824.4(GLRB): c.798C> T (p.Val266=) single nucleotide variant Likely benign rs148773767 GRCh38 Chromosome 4, 157143853: 157143853
14 GLRB NM_000824.4(GLRB): c.798C> T (p.Val266=) single nucleotide variant Likely benign rs148773767 GRCh37 Chromosome 4, 158065005: 158065005
15 GLRB NM_000824.4(GLRB): c.1221dup (p.Val408Serfs) duplication Uncertain significance GRCh37 Chromosome 4, 158091607: 158091607
16 GLRB NM_000824.4(GLRB): c.1221dup (p.Val408Serfs) duplication Uncertain significance GRCh38 Chromosome 4, 157170455: 157170455

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
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
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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