HKPX1
MCID: HYP539
MIFTS: 33

Hyperekplexia, Hereditary 1, Autosomal Dominant or Recessive (HKPX1) malady

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

Aliases & Classifications for Hyperekplexia, Hereditary 1, Autosomal Dominant or Recessive

Aliases & Descriptions for Hyperekplexia, Hereditary 1, Autosomal Dominant or Recessive:

Name: Hyperekplexia, Hereditary 1, Autosomal Dominant or Recessive 54 13
Hyperekplexia Hereditary 1 Autosomal Dominant or Recessive 66
Congenital Stiff-Person Syndrome 66
Congenital Stiff-Man Syndrome 66
Exaggerated Startle Reaction 66
Hereditary Hyperexplexia 1 66
Familial Startle Disease 66
Hereditary Hyperexplexia 69
Stiff-Person Syndrome 69
Stiff-Baby Syndrome 66
Hyperekplexia 1 66
Kok Disease 66
Hkpx1 66
Sthe 66

Characteristics:

HPO:

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


Classifications:



External Ids:

OMIM 54 149400
MedGen 40 C1835614

Summaries for Hyperekplexia, Hereditary 1, Autosomal Dominant or Recessive

OMIM : 54 Hyperekplexia is an early-onset neurologic disorder characterized by an exaggerated startle response to sudden,... (149400) more...

MalaCards based summary : Hyperekplexia, Hereditary 1, Autosomal Dominant or Recessive, also known as hyperekplexia hereditary 1 autosomal dominant or recessive, is related to hyperekplexia 1 and hyperekplexia, and has symptoms including seizures, myoclonus and inguinal hernia. An important gene associated with Hyperekplexia, Hereditary 1, Autosomal Dominant or Recessive is GLRA1 (Glycine Receptor Alpha 1), and among its related pathways/superpathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Ion channel transport. Related phenotypes are behavior/neurological and muscle

UniProtKB/Swiss-Prot : 66 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, Hereditary 1, Autosomal Dominant or Recessive

Graphical network of the top 20 diseases related to Hyperekplexia, Hereditary 1, Autosomal Dominant or Recessive:



Diseases related to Hyperekplexia, Hereditary 1, Autosomal Dominant or Recessive

Symptoms & Phenotypes for Hyperekplexia, Hereditary 1, Autosomal Dominant or Recessive

Symptoms by clinical synopsis from OMIM:

149400

Clinical features from OMIM:

149400

Human phenotypes related to Hyperekplexia, Hereditary 1, Autosomal Dominant or Recessive:

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

UMLS symptoms related to Hyperekplexia, Hereditary 1, Autosomal Dominant or Recessive:


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

MGI Mouse Phenotypes related to Hyperekplexia, Hereditary 1, Autosomal Dominant or Recessive:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.63 ARHGEF9 GARS GLRA1 GLRB GPHN SLC6A5
2 muscle MP:0005369 9.26 GLRA1 GLRB SLC6A5 GARS
3 nervous system MP:0003631 9.1 ARHGEF9 GARS GLRA1 GLRB GPHN SLC6A5

Drugs & Therapeutics for Hyperekplexia, Hereditary 1, Autosomal Dominant or Recessive

Search Clinical Trials , NIH Clinical Center for Hyperekplexia, Hereditary 1, Autosomal Dominant or Recessive

Genetic Tests for Hyperekplexia, Hereditary 1, Autosomal Dominant or Recessive

Anatomical Context for Hyperekplexia, Hereditary 1, Autosomal Dominant or Recessive

Publications for Hyperekplexia, Hereditary 1, Autosomal Dominant or Recessive

Variations for Hyperekplexia, Hereditary 1, Autosomal Dominant or Recessive

UniProtKB/Swiss-Prot genetic disease variations for Hyperekplexia, Hereditary 1, Autosomal Dominant or Recessive:

66 (show all 18)
id 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, Hereditary 1, Autosomal Dominant or Recessive:

6 (show all 22)
id 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> A (p.Arg299Gln) single nucleotide variant Pathogenic rs121918408 GRCh37 Chromosome 5, 151230967: 151230967
3 GLRA1 NM_001146040.1(GLRA1): c.815T> A (p.Ile272Asn) single nucleotide variant Pathogenic rs121918409 GRCh37 Chromosome 5, 151231048: 151231048
4 GLRA1 NM_001146040.1(GLRA1): c.920A> G (p.Tyr307Cys) single nucleotide variant Pathogenic rs121918410 GRCh37 Chromosome 5, 151208621: 151208621
5 GLRA1 NM_001146040.1(GLRA1): c.882G> C (p.Gln294His) single nucleotide variant Pathogenic rs121918411 GRCh37 Chromosome 5, 151230981: 151230981
6 GLRA1 NM_001146040.1(GLRA1): c.910A> G (p.Lys304Glu) single nucleotide variant Pathogenic rs121918412 GRCh37 Chromosome 5, 151230953: 151230953
7 GLRA1 NM_001146040.1(GLRA1): c.832C> A (p.Pro278Thr) single nucleotide variant Pathogenic rs121918413 GRCh37 Chromosome 5, 151231031: 151231031
8 GLRA1 NM_000171.3(GLRA1): c.298delC (p.Arg100Alafs) deletion Pathogenic rs281864915 GRCh37 Chromosome 5, 151239524: 151239524
9 GLRA1 NM_001146040.1(GLRA1): c.690C> A (p.Tyr230Ter) single nucleotide variant Pathogenic rs121918415 GRCh37 Chromosome 5, 151234608: 151234608
10 GLRA1 NM_001146040.1(GLRA1): c.862G> A (p.Val288Met) single nucleotide variant Pathogenic rs121918416 GRCh37 Chromosome 5, 151231001: 151231001
11 GLRA1 NM_001146040.1(GLRA1): c.777C> G (p.Ser259Arg) single nucleotide variant Pathogenic rs121918417 GRCh37 Chromosome 5, 151231086: 151231086
12 GLRA1 NM_001146040.1(GLRA1): c.(?_-287)_(912+?)del deletion Pathogenic
13 GLRA1 NM_001146040.1(GLRA1): c.971C> A (p.Ser324Ter) single nucleotide variant Pathogenic rs121918418 GRCh37 Chromosome 5, 151208570: 151208570
14 GLRA1 NM_001146040.1(GLRA1): c.884G> A (p.Ser295Asn) single nucleotide variant Pathogenic rs267606848 GRCh37 Chromosome 5, 151230979: 151230979
15 GLRA1 NM_001146040.1(GLRA1): c.299G> A (p.Arg100His) single nucleotide variant Pathogenic rs281864914 GRCh37 Chromosome 5, 151239523: 151239523
16 GLRA1 NM_001146040.1(GLRA1): c.737G> A (p.Arg246Gln) single nucleotide variant Pathogenic rs281864916 GRCh37 Chromosome 5, 151231126: 151231126
17 GLRA1 NM_001146040.1(GLRA1): c.801G> C (p.Trp267Cys) single nucleotide variant Pathogenic rs281864917 GRCh37 Chromosome 5, 151231062: 151231062
18 GLRA1 NM_001146040.1(GLRA1): c.892T> A (p.Ser298Thr) single nucleotide variant Pathogenic rs281864920 GRCh37 Chromosome 5, 151230971: 151230971
19 GLRA1 NM_001146040.1(GLRA1): c.920A> C (p.Tyr307Ser) single nucleotide variant Pathogenic rs121918410 GRCh37 Chromosome 5, 151208621: 151208621
20 GLRA1 NM_001146040.1(GLRA1): c.921delT (p.Tyr307Terfs) deletion Pathogenic rs281864921 GRCh37 Chromosome 5, 151208620: 151208620
21 GLRA1 NM_000171.3(GLRA1): c.1259G> A (p.Arg420His) single nucleotide variant Pathogenic rs281864919 GRCh37 Chromosome 5, 151202325: 151202325
22 GLRA1 NM_000171.3(GLRA1): c.(?_-287)_697+?del deletion Pathogenic GRCh38 Chromosome 5, 151855040: 151924836

Expression for Hyperekplexia, Hereditary 1, Autosomal Dominant or Recessive

Search GEO for disease gene expression data for Hyperekplexia, Hereditary 1, Autosomal Dominant or Recessive.

Pathways for Hyperekplexia, Hereditary 1, Autosomal Dominant or Recessive

GO Terms for Hyperekplexia, Hereditary 1, Autosomal Dominant or Recessive

Cellular components related to Hyperekplexia, Hereditary 1, Autosomal Dominant or Recessive according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 cell junction GO:0030054 9.54 GLRA1 GLRB GPHN
2 synapse GO:0045202 9.5 GLRA1 GLRB GPHN
3 dendrite GO:0030425 9.43 GLRA1 GLRB GPHN
4 cell projection GO:0042995 9.26 GARS GLRA1 GLRB GPHN
5 chloride channel complex GO:0034707 9.16 GLRA1 GLRB
6 postsynaptic membrane GO:0045211 8.8 GLRA1 GLRB GPHN

Biological processes related to Hyperekplexia, Hereditary 1, Autosomal Dominant or Recessive according to GeneCards Suite gene sharing:

(show all 15)
id Name GO ID Score Top Affiliating Genes
1 ion transmembrane transport GO:0034220 9.63 ARHGEF9 GLRA1 GLRB
2 chemical synaptic transmission GO:0007268 9.58 GLRA1 GLRB SLC6A5
3 neuropeptide signaling pathway GO:0007218 9.55 GLRA1 GLRB
4 chloride transmembrane transport GO:1902476 9.54 GLRA1 GLRB
5 chloride transport GO:0006821 9.52 GLRA1 GLRB
6 regulation of membrane potential GO:0042391 9.51 GLRA1 GLRB
7 excitatory postsynaptic potential GO:0060079 9.49 GLRA1 GLRB
8 protein heterooligomerization GO:0051291 9.48 GLRA1 GLRB
9 adult walking behavior GO:0007628 9.43 GLRA1 GLRB
10 neuromuscular process GO:0050905 9.37 GLRA1 GLRB
11 acrosome reaction GO:0007340 9.32 GLRA1 GLRB
12 startle response GO:0001964 9.26 GLRA1 GLRB
13 righting reflex GO:0060013 9.16 GLRA1 GLRB
14 gamma-aminobutyric acid receptor clustering GO:0097112 8.96 GLRB GPHN
15 synaptic transmission, glycinergic GO:0060012 8.8 GLRA1 GLRB SLC6A5

Molecular functions related to Hyperekplexia, Hereditary 1, Autosomal Dominant or Recessive according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 chloride channel activity GO:0005254 9.32 GLRA1 GLRB
2 extracellular ligand-gated ion channel activity GO:0005230 9.26 GLRA1 GLRB
3 glycine binding GO:0016594 9.16 GLRA1 GLRB
4 extracellular-glycine-gated chloride channel activity GO:0016934 8.96 GLRA1 GLRB
5 extracellular-glycine-gated ion channel activity GO:0016933 8.62 GLRA1 GLRB

Sources for Hyperekplexia, Hereditary 1, Autosomal Dominant or Recessive

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
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33 ICD10
34 ICD10 via Orphanet
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36 IUPHAR
37 KEGG
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42 MeSH
43 MESH via Orphanet
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48 NDF-RT
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59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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