MCID: HYP539
MIFTS: 44

Hyperekplexia, Hereditary 1, Autosomal Dominant or Recessive malady

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Summaries for Hyperekplexia, Hereditary 1, Autosomal Dominant or Recessive

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MalaCards based summary: Hyperekplexia, Hereditary 1, Autosomal Dominant or Recessive, also known as hereditary hyperekplexia, is related to molybdenum cofactor deficiency and stiff-person syndrome, and has symptoms including gastroesophageal reflux/pyrosis/esophagitis/hiatal hernia/gastroparesia, ataxia/incoordination/trouble of the equilibrium and movement disorder. An important gene associated with Hyperekplexia, Hereditary 1, Autosomal Dominant or Recessive is GLRA1 (glycine receptor, alpha 1), and among its related pathways are Ion channel transport and Ligand-gated ion channel transport. The compounds strychnine and cyanotriphenylborate have been mentioned in the context of this disorder. Related mouse phenotypes are muscle and behavior/neurological.

Descriptions from OMIM:46 149400,614618,614619

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

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Sources:
46OMIM, 48Orphanet, 62UMLS, 26ICD10 via Orphanet
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Hyperekplexia, Hereditary 1, Autosomal Dominant or Recessive, Aliases & Descriptions:

Name: Hyperekplexia, Hereditary 1, Autosomal Dominant or Recessive 46
Hereditary Hyperekplexia 48 62
Hyperekplexia 48 62
Kok Disease 48 62
Congenital Stiff-Man Syndrome 62
 
Congenital Stiff Man Syndrome 48
Familial Startle Disease 48
Hereditary Hyperexplexia 48
Hyperexplexia Hereditary 62
Stiff Baby Syndrome 48


Classifications:



Characteristics (Orphanet epidemiological data):

48
hereditary hyperekplexia:
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: <1/1000000; Age of onset: Neonatal/infancy


External Ids:

ICD10 via Orphanet26 G25.8

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

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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 for Hyperekplexia, Hereditary 1, Autosomal Dominant or Recessive

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Symptoms by clinical synopsis from OMIM:

149400

Clinical features from OMIM:

149400,614618,614619

Symptoms:

48 (show all 18)
  • gastroesophageal reflux/pyrosis/esophagitis/hiatal hernia/gastroparesia
  • ataxia/incoordination/trouble of the equilibrium
  • movement disorder
  • myoclonus/fasciculations
  • hypertonia/spasticity/rigidity/stiffness
  • hypereflexia
  • restricted joint mobility/joint stiffness/ankylosis
  • autosomal dominant inheritance
  • autosomal recessive inheritance
  • inguinal/inguinoscrotal/crural hernia
  • umbilical hernia
  • abnormal gait
  • sleep and vigilance disorders
  • death in infancy
  • seizures/epilepsy/absences/spasms/status epilepticus
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • joint dislocation/subluxation
  • hip dislocation/dysplasia/coxa valga/coxa vara/coxa plana

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

(show all 26)
id Description Frequency HPO Source Accession
1 hypertonia hallmark (90%) HP:0001276
2 hyperreflexia hallmark (90%) HP:0001347
3 limitation of joint mobility hallmark (90%) HP:0001376
4 incoordination hallmark (90%) HP:0002311
5 involuntary movements hallmark (90%) HP:0004305
6 gait disturbance typical (50%) HP:0001288
7 umbilical hernia typical (50%) HP:0001537
8 sleep disturbance typical (50%) HP:0002360
9 seizures occasional (7.5%) HP:0001250
10 joint dislocation occasional (7.5%) HP:0001373
11 abnormality of the hip bone occasional (7.5%) HP:0003272
12 cognitive impairment occasional (7.5%) HP:0100543
13 autosomal dominant inheritance HP:0000006
14 autosomal recessive inheritance HP:0000007
15 inguinal hernia HP:0000023
16 seizures HP:0001250
17 hypertonia HP:0001276
18 myoclonus HP:0001336
19 umbilical hernia HP:0001537
20 apnea HP:0002104
21 exaggerated startle response HP:0002267
22 frequent falls HP:0002359
23 hypokinesia HP:0002375
24 hip dislocation HP:0002827
25 aspiration HP:0002835
26 infantile onset HP:0003593

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

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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

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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:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053698.5SLC6A5, GLRA1, GLRB
2MP:00053868.0SLC6A5, GLRA1, GLRB, GPHN
3MP:00036317.9GPHN, GLRB, GLRA1, SLC6A5
4MP:00107687.7SLC6A5, GLRA1, GLRB, 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:

64
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 40)
id Gene Name Type Significance SNP ID Assembly Location
1GLRBNM_000824.4(GLRB): c.752G> A (p.Gly251Asp)single nucleotide variantPathogenicrs121909749GRCh37Chr 4, 158064959: 158064959
2GLRBNM_000824.4(GLRB): c.610+5G> Asingle nucleotide variantPathogenicrs281864922GRCh37Chr 4, 158058043: 158058043
3GLRA1NM_001146040.1(GLRA1): c.896G> T (p.Arg299Leu)single nucleotide variantPathogenicrs121918408GRCh37Chr 5, 151230967: 151230967
4GLRA1NM_001146040.1(GLRA1): c.896G> A (p.Arg299Gln)single nucleotide variantPathogenicrs121918408GRCh37Chr 5, 151230967: 151230967
5GLRA1NM_001146040.1(GLRA1): c.815T> A (p.Ile272Asn)single nucleotide variantPathogenicrs121918409GRCh37Chr 5, 151231048: 151231048
6GLRA1NM_001146040.1(GLRA1): c.920A> G (p.Tyr307Cys)single nucleotide variantPathogenicrs121918410GRCh37Chr 5, 151208621: 151208621
7GLRA1NM_001146040.1(GLRA1): c.882G> C (p.Gln294His)single nucleotide variantPathogenicrs121918411GRCh37Chr 5, 151230981: 151230981
8GLRA1NM_001146040.1(GLRA1): c.910A> G (p.Lys304Glu)single nucleotide variantPathogenicrs121918412GRCh37Chr 5, 151230953: 151230953
9GLRA1NM_001146040.1(GLRA1): c.832C> A (p.Pro278Thr)single nucleotide variantPathogenicrs121918413GRCh37Chr 5, 151231031: 151231031
10GLRA1NM_001146040.1(GLRA1): c.298delC (p.Arg100Alafs)deletionPathogenicrs281864915GRCh37Chr 5, 151239524: 151239524
11GLRA1NM_001146040.1(GLRA1): c.523A> G (p.Met175Val)single nucleotide variantPathogenicrs121918414GRCh37Chr 5, 151235898: 151235898
12GLRA1NM_001146040.1(GLRA1): c.690C> A (p.Tyr230Ter)single nucleotide variantPathogenicrs121918415GRCh37Chr 5, 151234608: 151234608
13GLRA1NM_001146040.1(GLRA1): c.862G> A (p.Val288Met)single nucleotide variantPathogenicrs121918416GRCh37Chr 5, 151231001: 151231001
14GLRA1NM_001146040.1(GLRA1): c.777C> G (p.Ser259Arg)single nucleotide variantPathogenicrs121918417GRCh37Chr 5, 151231086: 151231086
15GLRA1NM_001146040.1: c.(?_-287)_c.912+?deldeletionPathogenic
16GLRA1NM_001146040.1(GLRA1): c.971C> A (p.Ser324Ter)single nucleotide variantPathogenicrs121918418GRCh37Chr 5, 151208570: 151208570
17GLRA1NM_001146040.1(GLRA1): c.884G> A (p.Ser295Asn)single nucleotide variantPathogenicrs267606848GRCh37Chr 5, 151230979: 151230979
18GLRBNM_000824.4(GLRB): c.596T> G (p.Met199Arg)single nucleotide variantPathogenicrs398122856GRCh37Chr 4, 158058024: 158058024
19SLC6A5NM_004211.3(SLC6A5): c.1530T> G (p.Ser510Arg)single nucleotide variantPathogenicrs281864926GRCh37Chr 11, 20652267: 20652267
20GLRA1NM_001146040.1(GLRA1): c.1132G> A (p.Gly378Ser)single nucleotide variantPathogenicrs116474260GRCh37Chr 5, 151202476: 151202476
21GLRA1NM_001146040.1(GLRA1): c.299G> A (p.Arg100His)single nucleotide variantPathogenicrs281864914GRCh37Chr 5, 151239523: 151239523
22GLRA1NM_001146040.1(GLRA1): c.737G> A (p.Arg246Gln)single nucleotide variantPathogenicrs281864916GRCh37Chr 5, 151231126: 151231126
23GLRA1NM_001146040.1(GLRA1): c.801G> C (p.Trp267Cys)single nucleotide variantPathogenicrs281864917GRCh37Chr 5, 151231062: 151231062
24GLRA1NM_001146040.1(GLRA1): c.892T> A (p.Ser298Thr)single nucleotide variantPathogenicrs281864920GRCh37Chr 5, 151230971: 151230971
25GLRA1NM_001146040.1(GLRA1): c.920A> C (p.Tyr307Ser)single nucleotide variantPathogenicrs121918410GRCh37Chr 5, 151208621: 151208621
26GLRA1NM_001146040.1(GLRA1): c.921delT (p.Tyr307Terfs)deletionPathogenicrs281864921GRCh37Chr 5, 151208620: 151208620
27GLRA1NM_001146040.1(GLRA1): c.1030C> T (p.Arg344Ter)single nucleotide variantPathogenicrs281864913GRCh37Chr 5, 151208511: 151208511
28GLRA1NM_001146040.1(GLRA1): c.298delC (p.Arg100Alafs)deletionPathogenicrs281864915GRCh37Chr 5, 151239524: 151239524
29GLRA1NM_001146040.1(GLRA1): c.1283G> A (p.Arg428His)single nucleotide variantPathogenicrs281864919GRCh37Chr 5, 151202325: 151202325
30SLC6A5NM_004211.3(SLC6A5): c.1444T> C (p.Trp482Arg)single nucleotide variantPathogenicrs281864925GRCh37Chr 11, 20649574: 20649574
31SLC6A5NM_004211.3(SLC6A5): c.323delC (p.Pro108Leufs)deletionPathogenicrs281864923GRCh37Chr 11, 20622994: 20622994
32GLRA1NM_000171.3: c.(?_-287)_697+?deldeletionPathogenic
33SLC6A5NM_004211.3(SLC6A5): c.1131C> A (p.Tyr377Ter)single nucleotide variantPathogenicrs121908493GRCh37Chr 11, 20639301: 20639301
34SLC6A5NM_004211.3(SLC6A5): c.1294delGinsTT (p.Val432Phefs)indelPathogenicrs281864924GRCh37Chr 11, 20648287: 20648287
35SLC6A5NM_004211.3(SLC6A5): c.1472A> G (p.Tyr491Cys)single nucleotide variantPathogenicrs121908494GRCh37Chr 11, 20649602: 20649602
36SLC6A5NM_004211.3(SLC6A5): c.1888C> T (p.Gln630Ter)single nucleotide variantPathogenicrs121908495GRCh37Chr 11, 20660023: 20660023
37SLC6A5NM_004211.3(SLC6A5): c.916C> G (p.Leu306Val)single nucleotide variantPathogenicrs121908496GRCh37Chr 11, 20629129: 20629129
38SLC6A5NM_004211.3(SLC6A5): c.1526A> G (p.Asn509Ser)single nucleotide variantPathogenicrs121908497GRCh37Chr 11, 20652263: 20652263
39SLC6A5NM_004211.3(SLC6A5): c.1274C> T (p.Thr425Met)single nucleotide variantPathogenicrs121908498GRCh37Chr 11, 20648267: 20648267
40GPHNNM_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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Expression patterns in normal tissues for genes affiliated with Hyperekplexia, Hereditary 1, Autosomal Dominant or Recessive

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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Pathways related to Hyperekplexia, Hereditary 1, Autosomal Dominant or Recessive according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.1GLRA1, GLRB
2
Show member pathways
9.1GLRA1, GLRB
3
Show member pathways
9.1GLRA1, GLRB
4
Show member pathways
8.5SLC6A5, GLRA1, GLRB

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

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Compounds related to Hyperekplexia, Hereditary 1, Autosomal Dominant or Recessive according to GeneCards/GeneDecks:

(show all 22)
idCompoundScoreTop Affiliating Genes
1strychnine44 2 2811.7GPHN, GLRA1
2cyanotriphenylborate289.5GLRB, GLRA1
3bilobalide289.5GLRB, GLRA1
4ginkgolide x289.5GLRB, GLRA1
5picrotin289.5GLRA1, GLRB
6pregnenolone sulphate289.4GLRB, GLRA1
7ginkgolide b28 44 6111.4GLRA1, GLRB
8tropisetron28 4410.4GLRA1, GLRB
9hypotaurine61 44 2411.4GLRB, GLRA1
10lindane44 1110.4GLRA1, GLRB
11picrotoxinin2 44 2811.4GLRA1, GLRB
12zn2+289.4GLRA1, GLRB
13gaba449.3SLC6A5, GPHN
14l-serine61 28 24 1112.3GLRA1, GLRB
15l-alanine61 28 24 1112.3GLRA1, GLRB
16beta-alanine44 61 28 24 1113.2GLRB, GLRA1
17picrotoxin44 28 1111.2GLRA1, GLRB
18taurine44 61 2411.1GLRA1, GLRB
19chlorine44 2410.0GLRB, GLRA1
20glycine28 24 1110.9SLC6A5, GLRA1, GLRB
21nifedipine44 28 50 1111.8GLRA1, GLRB
22nmda44 289.7GPHN, GLRB, SLC6A5

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/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1chloride channel complexGO:0347078.8GLRB, GLRA1
2postsynaptic membraneGO:0452118.6GLRA1, GLRB, GPHN
3cell junctionGO:0300548.5GLRA1, GLRB, GPHN
4plasma membraneGO:0058868.0SLC6A5, GLRA1, GLRB, GPHN

Biological processes related to Hyperekplexia, Hereditary 1, Autosomal Dominant or Recessive according to GeneCards/GeneDecks:

(show all 13)
idNameGO IDScoreTop Affiliating Genes
1synaptic transmission, glycinergicGO:0600129.4GLRA1, GLRB
2righting reflexGO:0600139.4GLRA1, GLRB
3startle responseGO:0019649.4GLRA1, GLRB
4acrosome reactionGO:0073409.4GLRB, GLRA1
5adult walking behaviorGO:0076289.3GLRA1, GLRB
6chloride transmembrane transportGO:19024769.3GLRA1, GLRB
7regulation of membrane potentialGO:0423919.2GLRA1, GLRB
8neuropeptide signaling pathwayGO:0072189.2GLRA1, GLRB
9ion transportGO:0068119.1GLRB, GLRA1
10ion transmembrane transportGO:0342209.0GLRA1, GLRB
11synaptic transmissionGO:0072689.0SLC6A5, GLRB
12visual perceptionGO:0076018.8GLRA1, GLRB
13transmembrane transportGO:0550858.7GLRB, GLRA1, SLC6A5

Molecular functions related to Hyperekplexia, Hereditary 1, Autosomal Dominant or Recessive according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1glycine bindingGO:0165949.1GLRA1, GLRB
2extracellular-glycine-gated chloride channel activityGO:0169348.8GLRA1, GLRB

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

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Sources for Hyperekplexia, Hereditary 1, Autosomal Dominant or Recessive

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet