MCID: HYP539
MIFTS: 24

Hyperekplexia, Hereditary 1, Autosomal Dominant or Recessive malady

Genetic diseases, Rare diseases, Neuronal diseases, Metabolic diseases categories

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

About this section

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

Name: Hyperekplexia, Hereditary 1, Autosomal Dominant or Recessive 45 10
 
Hyperekplexia, Hereditary 1 45


Classifications:



External Ids:

OMIM45 149400

Summaries for Hyperekplexia, Hereditary 1, Autosomal Dominant or Recessive

About this section


OMIM:45 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, is related to molybdenum cofactor deficiency and stiff-person syndrome, and has symptoms including autosomal dominant inheritance, autosomal recessive inheritance and inguinal hernia. An important gene associated with Hyperekplexia, Hereditary 1, Autosomal Dominant or Recessive is GLRA1 (glycine receptor, alpha 1). The compounds glutamate and strychnine have been mentioned in the context of this disorder. Related mouse phenotypes are vision/eye and respiratory system.

Related Diseases for Hyperekplexia, Hereditary 1, Autosomal Dominant or Recessive

About this section

Diseases in the Hyperekplexia family:

Hyperekplexia 3 Hyperekplexia 2, Autosomal Recessive
hyperekplexia, hereditary 1, autosomal dominant or recessive Arhgef9-Related Hyperekplexia
Glra1-Related Hyperekplexia Glrb-Related Hyperekplexia
Gphn-Related Hyperekplexia Slc6a5-Related Hyperekplexia

Diseases related to Hyperekplexia, Hereditary 1, Autosomal Dominant or Recessive via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1molybdenum cofactor deficiency10.2GPHN
2stiff-person syndrome10.1GPHN
3hyperekplexia9.8GLRA1, GPHN

Symptoms for Hyperekplexia, Hereditary 1, Autosomal Dominant or Recessive

About this section

Symptoms by clinical synopsis from OMIM:

149400

Clinical features from OMIM:

149400

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

(show all 14)
id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 autosomal recessive inheritance HP:0000007
3 inguinal hernia HP:0000023
4 seizures HP:0001250
5 hypertonia HP:0001276
6 myoclonus HP:0001336
7 umbilical hernia HP:0001537
8 apnea HP:0002104
9 exaggerated startle response HP:0002267
10 frequent falls HP:0002359
11 hypokinesia HP:0002375
12 hip dislocation HP:0002827
13 aspiration HP:0002835
14 infantile onset HP:0003593

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

About this section

Drug clinical trials:

Search ClinicalTrials for Hyperekplexia, Hereditary 1, Autosomal Dominant or Recessive

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

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

About this section

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

About this section

Animal Models for Hyperekplexia, Hereditary 1, Autosomal Dominant or Recessive or affiliated genes

About this section

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

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053919.1GLRA1, GPHN
2MP:00053888.8GLRA1, GPHN

Publications for Hyperekplexia, Hereditary 1, Autosomal Dominant or Recessive

About this section

Variations for Hyperekplexia, Hereditary 1, Autosomal Dominant or Recessive

About this section

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

62
id Symbol AA change Variation ID SNP ID
1GLRA1p.Ile272AsnVAR_000296
2GLRA1p.Gln294HisVAR_000297
3GLRA1p.Arg299LeuVAR_000298
4GLRA1p.Arg299GlnVAR_000299
5GLRA1p.Lys304GluVAR_000300
6GLRA1p.Tyr307CysVAR_000301
7GLRA1p.Pro278ThrVAR_010112
8GLRA1p.Arg280HisVAR_010113
9GLRA1p.Arg428HisVAR_010114

Clinvar genetic disease variations for Hyperekplexia, Hereditary 1, Autosomal Dominant or Recessive:

6 (show all 27)
id Gene Variation Type Significance SNP ID Assembly Location
1GLRA1NM_001146040.1(GLRA1): c.896G> T (p.Arg299Leu)single nucleotide variantPathogenicrs121918408GRCh37Chr 5, 151230967: 151230967
2GLRA1NM_001146040.1(GLRA1): c.896G> A (p.Arg299Gln)single nucleotide variantPathogenicrs121918408GRCh37Chr 5, 151230967: 151230967
3GLRA1NM_001146040.1(GLRA1): c.815T> A (p.Ile272Asn)single nucleotide variantPathogenicrs121918409GRCh37Chr 5, 151231048: 151231048
4GLRA1NM_001146040.1(GLRA1): c.920A> G (p.Tyr307Cys)single nucleotide variantPathogenicrs121918410GRCh37Chr 5, 151208621: 151208621
5GLRA1NM_001146040.1(GLRA1): c.882G> C (p.Gln294His)single nucleotide variantPathogenicrs121918411GRCh37Chr 5, 151230981: 151230981
6GLRA1NM_001146040.1(GLRA1): c.910A> G (p.Lys304Glu)single nucleotide variantPathogenicrs121918412GRCh37Chr 5, 151230953: 151230953
7GLRA1NM_001146040.1(GLRA1): c.832C> A (p.Pro278Thr)single nucleotide variantPathogenicrs121918413GRCh37Chr 5, 151231031: 151231031
8GLRA1NM_001146040.1(GLRA1): c.298delC (p.Arg100Alafs)deletionPathogenicrs281864915GRCh37Chr 5, 151239524: 151239524
9GLRA1NM_001146040.1(GLRA1): c.523A> G (p.Met175Val)single nucleotide variantPathogenicrs121918414GRCh37Chr 5, 151235898: 151235898
10GLRA1NM_001146040.1(GLRA1): c.690C> A (p.Tyr230Ter)single nucleotide variantPathogenicrs121918415GRCh37Chr 5, 151234608: 151234608
11GLRA1NM_001146040.1(GLRA1): c.862G> A (p.Val288Met)single nucleotide variantPathogenicrs121918416GRCh37Chr 5, 151231001: 151231001
12GLRA1NM_001146040.1(GLRA1): c.777C> G (p.Ser259Arg)single nucleotide variantPathogenicrs121918417GRCh37Chr 5, 151231086: 151231086
13GLRA1NM_001146040.1: c.(?_-287)_c.912+?deldeletionPathogenic
14GLRA1NM_001146040.1(GLRA1): c.971C> A (p.Ser324Ter)single nucleotide variantPathogenicrs121918418GRCh37Chr 5, 151208570: 151208570
15GLRA1NM_001146040.1(GLRA1): c.884G> A (p.Ser295Asn)single nucleotide variantPathogenicrs267606848GRCh37Chr 5, 151230979: 151230979
16GLRA1NM_001146040.1(GLRA1): c.1132G> A (p.Gly378Ser)single nucleotide variantPathogenicrs116474260GRCh37Chr 5, 151202476: 151202476
17GLRA1NM_001146040.1(GLRA1): c.299G> A (p.Arg100His)single nucleotide variantPathogenicrs281864914GRCh37Chr 5, 151239523: 151239523
18GLRA1NM_001146040.1(GLRA1): c.737G> A (p.Arg246Gln)single nucleotide variantPathogenicrs281864916GRCh37Chr 5, 151231126: 151231126
19GLRA1NM_001146040.1(GLRA1): c.801G> C (p.Trp267Cys)single nucleotide variantPathogenicrs281864917GRCh37Chr 5, 151231062: 151231062
20GLRA1NM_001146040.1(GLRA1): c.892T> A (p.Ser298Thr)single nucleotide variantPathogenicrs281864920GRCh37Chr 5, 151230971: 151230971
21GLRA1NM_001146040.1(GLRA1): c.920A> C (p.Tyr307Ser)single nucleotide variantPathogenicrs121918410GRCh37Chr 5, 151208621: 151208621
22GLRA1NM_001146040.1(GLRA1): c.921delT (p.Tyr307Terfs)deletionPathogenicrs281864921GRCh37Chr 5, 151208620: 151208620
23GLRA1NM_001146040.1(GLRA1): c.1030C> T (p.Arg344Ter)single nucleotide variantPathogenicrs281864913GRCh37Chr 5, 151208511: 151208511
24GLRA1NM_001146040.1(GLRA1): c.298delC (p.Arg100Alafs)deletionPathogenicrs281864915GRCh37Chr 5, 151239524: 151239524
25GLRA1NM_001146040.1(GLRA1): c.1283G> A (p.Arg428His)single nucleotide variantPathogenicrs281864919GRCh37Chr 5, 151202325: 151202325
26GLRA1NM_000171.3: c.(?_-287)_697+?deldeletionPathogenic
27GPHNNM_020806.4(GPHN): c.28A> T (p.Asn10Tyr)single nucleotide variantPathogenicrs121908539GRCh37Chr 14, 66975273: 66975273

Expression for genes affiliated with Hyperekplexia, Hereditary 1, Autosomal Dominant or Recessive

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

Pathways for genes affiliated with Hyperekplexia, Hereditary 1, Autosomal Dominant or Recessive

About this section

Compounds for genes affiliated with Hyperekplexia, Hereditary 1, Autosomal Dominant or Recessive

About this section
Sources:
43Novoseek, 2BitterDB, 28IUPHAR
See all sources

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

idCompoundScoreTop Affiliating Genes
1glutamate439.1GLRA1, GPHN
2strychnine43 2 2810.8GLRA1, GPHN

GO Terms for genes affiliated with Hyperekplexia, Hereditary 1, Autosomal Dominant or Recessive

About this section

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

idNameGO IDScoreTop Affiliating Genes
1cell junctionGO:00300549.1GLRA1, GPHN
2postsynaptic membraneGO:00452118.8GLRA1, GPHN

Products for genes affiliated with Hyperekplexia, Hereditary 1, Autosomal Dominant or Recessive

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Hyperekplexia, Hereditary 1, Autosomal Dominant or Recessive

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet