MCID: HYP539
MIFTS: 25

Hyperekplexia, Hereditary 1, Autosomal Dominant or Recessive malady

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

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

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

Name: Hyperekplexia, Hereditary 1, Autosomal Dominant or Recessive 50 12
Hyperekplexia Hereditary 1 Autosomal Dominant or Recessive 68
Congenital Stiff-Person Syndrome 68
Congenital Stiff-Man Syndrome 68
Exaggerated Startle Reaction 68
Hereditary Hyperexplexia 1 68
 
Familial Startle Disease 68
Stiff-Baby Syndrome 68
Hyperekplexia 1 68
Kok Disease 68
Hkpx1 68
Sthe 68

Characteristics:

HPO:

62
hyperekplexia, hereditary 1, autosomal dominant or recessive:
Inheritance: autosomal dominant inheritance, autosomal recessive inheritance
Onset and clinical course: infantile onset


Classifications:



External Ids:

OMIM50 149400
MedGen35 C1835614

Summaries for Hyperekplexia, Hereditary 1, Autosomal Dominant or Recessive

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OMIM:50 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 and stiff-person syndrome, and has symptoms including inguinal hernia, seizures and hypertonia. An important gene associated with Hyperekplexia, Hereditary 1, Autosomal Dominant or Recessive is GLRA1 (Glycine Receptor Alpha 1). Related mouse phenotype respiratory system.

UniProtKB/Swiss-Prot:68 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

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Diseases in the Hyperekplexia family:

Hyperekplexia 2, Autosomal Recessive hyperekplexia, hereditary 1, autosomal dominant or recessive
Hyperekplexia 3 Arhgef9-Related Hyperekplexia
Glra1-Related Hyperekplexia Glrb-Related Hyperekplexia
Gphn-Related Hyperekplexia Slc6a5-Related Hyperekplexia
Sporadic 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
1hyperekplexia11.4
2stiff-person syndrome10.1
3deafness, autosomal recessive 1019.5GLRA1, GPHN
4ipex syndrome9.5GLRA1, GPHN
5complement component deficiency9.4GLRA1, GPHN
6myd88 deficiency9.2GLRA1, GPHN

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



Diseases related to hyperekplexia, hereditary 1, autosomal dominant or recessive

Symptoms for Hyperekplexia, Hereditary 1, Autosomal Dominant or Recessive

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

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

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Interventional clinical trials:

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

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

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

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

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

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053889.1GLRA1, GPHN

Publications for Hyperekplexia, Hereditary 1, Autosomal Dominant or Recessive

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Variations for Hyperekplexia, Hereditary 1, Autosomal Dominant or Recessive

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

68 (show all 18)
id Symbol AA change Variation ID SNP ID
1GLRA1p.Ile272AsnVAR_000296rs121918409
2GLRA1p.Gln294HisVAR_000297rs121918411
3GLRA1p.Arg299LeuVAR_000298rs121918408
4GLRA1p.Arg299GlnVAR_000299rs121918408
5GLRA1p.Lys304GluVAR_000300rs121918412
6GLRA1p.Tyr307CysVAR_000301rs121918410
7GLRA1p.Pro278ThrVAR_010112rs121918413
8GLRA1p.Arg280HisVAR_010113rs281864918
9GLRA1p.Arg428HisVAR_010114rs281864919
10GLRA1p.Arg93TrpVAR_075418rs199547699
11GLRA1p.Arg100CysVAR_075419
12GLRA1p.Arg246TrpVAR_075420rs751659671
13GLRA1p.Gln254GluVAR_075421
14GLRA1p.Pro258SerVAR_075422
15GLRA1p.Val308MetVAR_075423
16GLRA1p.Leu319ProVAR_075424
17GLRA1p.Asp424AlaVAR_075425
18GLRA1p.Arg450HisVAR_075426rs200130685

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

5 (show all 25)
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_000171.3(GLRA1): c.298delC (p.Arg100Alafs)deletionPathogenicrs281864915GRCh37Chr 5, 151239524: 151239524
9GLRA1NM_000171.3(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(GLRA1): c.(?_-287)_(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_000171.3(GLRA1): c.298delC (p.Arg100Alafs)deletionPathogenicrs281864915GRCh37Chr 5, 151239524: 151239524
24GLRA1NM_000171.3(GLRA1): c.(?_-287)_697+?deldeletionPathogenicGRCh38Chr 5, 151855040: 151924836
25GPHNNM_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

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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

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

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

idNameGO IDScoreTop Affiliating Genes
1postsynaptic membraneGO:00452119.3GLRA1, GPHN
2dendriteGO:00304259.1GLRA1, GPHN
3cell junctionGO:00300549.0GLRA1, GPHN

Sources for Hyperekplexia, Hereditary 1, Autosomal Dominant or Recessive

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet