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 49 11
Hyperekplexia Hereditary 1 Autosomal Dominant or Recessive 67
Congenital Stiff-Person Syndrome 67
Congenital Stiff-Man Syndrome 67
Exaggerated Startle Reaction 67
Hereditary Hyperexplexia 1 67
Familial Startle Disease 67
 
Hereditary Hyperexplexia 65
Stiff-Person Syndrome 65
Stiff-Baby Syndrome 67
Hyperekplexia 1 67
Kok Disease 67
Hkpx1 67
Sthe 67

Characteristics:

HPO:

61
hyperekplexia, hereditary 1, autosomal dominant or recessive:
Onset and clinical course: infantile onset
Inheritance: autosomal recessive inheritance, autosomal dominant inheritance


Classifications:



External Ids:

OMIM49 149400
MedGen34 C1835614
UMLS65 C1835614

Summaries for Hyperekplexia, Hereditary 1, Autosomal Dominant or Recessive

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OMIM:49 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 molybdenum cofactor deficiency, and has symptoms including aspiration, hip dislocation and hypokinesia. 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:67 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
1hyperekplexia12.1
2molybdenum cofactor deficiency10.6
3deafness, autosomal recessive 1019.7GLRA1, GPHN
4hypomyelination and congenital cataract9.7GLRA1, GPHN
5tinea profunda9.6GLRA1, GPHN
6momo syndrome9.5GLRA1, 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 aspiration HP:0002835
2 hip dislocation HP:0002827
3 hypokinesia HP:0002375
4 frequent falls HP:0002359
5 exaggerated startle response HP:0002267
6 apnea HP:0002104
7 umbilical hernia HP:0001537
8 myoclonus HP:0001336
9 hypertonia HP:0001276
10 seizures HP:0001250
11 inguinal hernia HP:0000023

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:

38
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:

67 (show all 18)
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
10GLRA1p.Arg93TrpVAR_075418
11GLRA1p.Arg100CysVAR_075419
12GLRA1p.Arg246TrpVAR_075420
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 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_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.1030C> T (p.Arg344Ter)single nucleotide variantPathogenicrs281864913GRCh37Chr 5, 151208511: 151208511
24GLRA1NM_000171.3(GLRA1): c.298delC (p.Arg100Alafs)deletionPathogenicrs281864915GRCh37Chr 5, 151239524: 151239524
25GLRA1NM_000171.3(GLRA1): c.1259G> A (p.Arg420His)single nucleotide variantPathogenicrs281864919GRCh37Chr 5, 151202325: 151202325
26GLRA1NM_000171.3(GLRA1): c.(?_-287)_697+?deldeletionPathogenicGRCh38Chr 5, 151855040: 151924836
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

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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
1dendriteGO:00304259.1GLRA1, GPHN

Sources for Hyperekplexia, Hereditary 1, Autosomal Dominant or Recessive

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet