MCID: HYP539
MIFTS: 43

Hyperekplexia, Hereditary 1, Autosomal Dominant or Recessive malady

Genetic diseases, Neuronal diseases, Rare diseases categories

Summaries for Hyperekplexia, Hereditary 1, Autosomal Dominant or Recessive

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48OMIM, 34MalaCards
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MalaCards: Hyperekplexia, Hereditary 1, Autosomal Dominant or Recessive, also known as congenital stiff man syndrome, is related to hyperekplexia and stiff-person syndrome, and has symptoms including gastroesophageal reflux/pyrosis/esophagitis/hiatal hernia/gastroparesia, joint dislocation/subluxation and intellectual deficit/mental/psychomotor retardation/learning disability. 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.

Description from OMIM:48 149400,614618,614619

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

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50Orphanet, 48OMIM, 27ICD10 via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Neuronal diseases


Characteristics (Orphanet epidemiological data):

50
congenital stiff man syndrome:
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: <1/1000000; Age of onset: Neonatal/infancy


Aliases & Descriptions:

hyperekplexia, hereditary 1, autosomal dominant or recessive 48
congenital stiff man syndrome 50
hereditary hyperekplexia 50
familial startle disease 50
hereditary hyperexplexia 50
stiff baby syndrome 50
hyperekplexia 50
kok disease 50


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ICD10 via Orphanet27 G25.8

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

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18GeneCards, 19GeneDecks
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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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48OMIM, 50Orphanet
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Symptoms by clinical synopsis from OMIM:

149400

Clinical features from OMIM:

149400,614618,614619

Symptoms:

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

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

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

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

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

Search CenterWatch 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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38MGI
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MGI Mouse Phenotypes related to Hyperekplexia, Hereditary 1, Autosomal Dominant or Recessive:

38
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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65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Hyperekplexia, Hereditary 1, Autosomal Dominant or Recessive:

65
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:

1 (show all 27)
id Gene Name 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 variantPathogenic, Uncertain significancers121908539GRCh37Chr 14, 66975273: 66975273

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

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2BioGPS, 16Gene Expression Omnibus DataSets
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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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Sources:
51PathCards, 56Reactome, 61Thomson Reuters
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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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Sources:
46Novoseek, 3BitterDB, 30IUPHAR, 62Tocris Bioscience, 25HMDB, 12DrugBank, 52PharmGKB
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Compounds related to Hyperekplexia, Hereditary 1, Autosomal Dominant or Recessive according to GeneCards/GeneDecks:

(show all 22)
idCompoundScoreTop Affiliating Genes
1strychnine46 3 3011.7GPHN, GLRA1
2cyanotriphenylborate309.5GLRB, GLRA1
3bilobalide309.5GLRB, GLRA1
4ginkgolide x309.5GLRB, GLRA1
5picrotin309.5GLRA1, GLRB
6pregnenolone sulphate309.4GLRB, GLRA1
7ginkgolide b30 46 6211.4GLRA1, GLRB
8tropisetron30 4610.4GLRA1, GLRB
9hypotaurine62 46 2511.4GLRB, GLRA1
10lindane46 1210.4GLRA1, GLRB
11picrotoxinin3 46 3011.4GLRA1, GLRB
12zn2+309.4GLRA1, GLRB
13gaba469.3SLC6A5, GPHN
14l-serine62 30 25 1212.3GLRA1, GLRB
15l-alanine62 30 25 1212.3GLRA1, GLRB
16beta-alanine46 62 30 25 1213.2GLRB, GLRA1
17picrotoxin46 30 1211.2GLRA1, GLRB
18taurine46 62 2511.1GLRA1, GLRB
19chlorine46 2510.0GLRB, GLRA1
20glycine30 25 1210.9SLC6A5, GLRA1, GLRB
21nifedipine46 30 52 1211.8GLRA1, GLRB
22nmda46 309.7GPHN, GLRB, SLC6A5

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

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17Gene Ontology
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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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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Hyperekplexia, Hereditary 1, Autosomal Dominant or Recessive

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet