HKPX1
MCID: HYP539
MIFTS: 33

Hyperekplexia, Hereditary 1, Autosomal Dominant or Recessive (HKPX1) malady

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

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

About this section

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

Name: Hyperekplexia, Hereditary 1, Autosomal Dominant or Recessive 52 12
Hyperekplexia Hereditary 1 Autosomal Dominant or Recessive 70
Congenital Stiff-Person Syndrome 70
Congenital Stiff-Man Syndrome 70
Exaggerated Startle Reaction 70
Hereditary Hyperexplexia 1 70
Familial Startle Disease 70
 
Hereditary Hyperexplexia 68
Stiff-Person Syndrome 68
Stiff-Baby Syndrome 70
Hyperekplexia 1 70
Kok Disease 70
Hkpx1 70
Sthe 70

Characteristics:

HPO:

64
hyperekplexia, hereditary 1, autosomal dominant or recessive:
Inheritance: autosomal dominant inheritance, autosomal recessive inheritance
Onset and clinical course: infantile onset

Classifications:



External Ids:

OMIM52 149400
MedGen37 C1835614

Summaries for Hyperekplexia, Hereditary 1, Autosomal Dominant or Recessive

About this section
OMIM:52 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 1 and hyperekplexia, and has symptoms including fever, muscle rigidity and opisthotonus. An important gene associated with Hyperekplexia, Hereditary 1, Autosomal Dominant or Recessive is GLRA1 (Glycine Receptor Alpha 1), and among its related pathways are Ligand-gated ion channel transport and Ion channel transport. Related mouse phenotypes are muscle and behavior/neurological.

UniProtKB/Swiss-Prot:70 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

About this section

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



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

Symptoms & Phenotypes for Hyperekplexia, Hereditary 1, Autosomal Dominant or Recessive

About this section

Symptoms by clinical synopsis from OMIM:

149400

Clinical features from OMIM:

149400

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

 64 (show all 11)
id Description HPO Frequency HPO Source Accession
1 inguinal hernia64 HP:0000023
2 seizures64 HP:0001250
3 hypertonia64 HP:0001276
4 myoclonus64 HP:0001336
5 umbilical hernia64 HP:0001537
6 apnea64 HP:0002104
7 exaggerated startle response64 HP:0002267
8 frequent falls64 HP:0002359
9 hypokinesia64 HP:0002375
10 hip dislocation64 HP:0002827
11 aspiration64 HP:0002835

UMLS symptoms related to Hyperekplexia, Hereditary 1, Autosomal Dominant or Recessive:


fever, muscle rigidity, opisthotonus, hyperexplexia, increased sweating, myoclonus

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

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053698.9GARS, GLRA1, GLRB, SLC6A5
2MP:00053867.9ARHGEF9, GARS, GLRA1, GLRB, GPHN, SLC6A5
3MP:00036317.1ARHGEF9, GARS, GLRA1, GLRB, GPHN, SLC6A5

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

About this section

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

About this section

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

About this section

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:

70 (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 22)
id Gene Variation Type Significance SNP ID Assembly Location
1GLRA1NM_ 001146040.1(GLRA1): c.896G> T (p.Arg299Leu)SNVPathogenicrs121918408GRCh37Chr 5, 151230967: 151230967
2GLRA1NM_ 001146040.1(GLRA1): c.896G> A (p.Arg299Gln)SNVPathogenicrs121918408GRCh37Chr 5, 151230967: 151230967
3GLRA1NM_ 001146040.1(GLRA1): c.815T> A (p.Ile272Asn)SNVPathogenicrs121918409GRCh37Chr 5, 151231048: 151231048
4GLRA1NM_ 001146040.1(GLRA1): c.920A> G (p.Tyr307Cys)SNVPathogenicrs121918410GRCh37Chr 5, 151208621: 151208621
5GLRA1NM_ 001146040.1(GLRA1): c.882G> C (p.Gln294His)SNVPathogenicrs121918411GRCh37Chr 5, 151230981: 151230981
6GLRA1NM_ 001146040.1(GLRA1): c.910A> G (p.Lys304Glu)SNVPathogenicrs121918412GRCh37Chr 5, 151230953: 151230953
7GLRA1NM_ 001146040.1(GLRA1): c.832C> A (p.Pro278Thr)SNVPathogenicrs121918413GRCh37Chr 5, 151231031: 151231031
8GLRA1NM_ 001146040.1(GLRA1): c.690C> A (p.Tyr230Ter)SNVPathogenicrs121918415GRCh37Chr 5, 151234608: 151234608
9GLRA1NM_ 001146040.1(GLRA1): c.862G> A (p.Val288Met)SNVPathogenicrs121918416GRCh37Chr 5, 151231001: 151231001
10GLRA1NM_ 001146040.1(GLRA1): c.777C> G (p.Ser259Arg)SNVPathogenicrs121918417GRCh37Chr 5, 151231086: 151231086
11GLRA1NM_ 001146040.1(GLRA1): c.(?_ -287)_ (912+?)deldeletionPathogenic
12GLRA1NM_ 001146040.1(GLRA1): c.971C> A (p.Ser324Ter)SNVPathogenicrs121918418GRCh37Chr 5, 151208570: 151208570
13GLRA1NM_ 001146040.1(GLRA1): c.884G> A (p.Ser295Asn)SNVPathogenicrs267606848GRCh37Chr 5, 151230979: 151230979
14GLRA1NM_ 000171.3(GLRA1): c.1259G> A (p.Arg420His)SNVPathogenicrs281864919GRCh37Chr 5, 151202325: 151202325
15GLRA1NM_ 001146040.1(GLRA1): c.299G> A (p.Arg100His)SNVPathogenicrs281864914GRCh37Chr 5, 151239523: 151239523
16GLRA1NM_ 001146040.1(GLRA1): c.737G> A (p.Arg246Gln)SNVPathogenicrs281864916GRCh37Chr 5, 151231126: 151231126
17GLRA1NM_ 001146040.1(GLRA1): c.801G> C (p.Trp267Cys)SNVPathogenicrs281864917GRCh37Chr 5, 151231062: 151231062
18GLRA1NM_ 001146040.1(GLRA1): c.892T> A (p.Ser298Thr)SNVPathogenicrs281864920GRCh37Chr 5, 151230971: 151230971
19GLRA1NM_ 001146040.1(GLRA1): c.920A> C (p.Tyr307Ser)SNVPathogenicrs121918410GRCh37Chr 5, 151208621: 151208621
20GLRA1NM_ 001146040.1(GLRA1): c.921delT (p.Tyr307Terfs)deletionPathogenicrs281864921GRCh37Chr 5, 151208620: 151208620
21GLRA1NM_ 000171.3(GLRA1): c.298delC (p.Arg100Alafs)deletion, CompoundHeterozygotePathogenicrs281864915GRCh37Chr 5, 151239524: 151239524
22GLRA1NM_ 000171.3(GLRA1): c.(?_ -287)_ 697+?deldeletionPathogenicGRCh38Chr 5, 151855040: 151924836

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

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
1chloride channel complexGO:003470710.1GLRA1, GLRB
2cell junctionGO:00300549.7GLRA1, GLRB, GPHN
3dendriteGO:00304259.6GLRA1, GLRB, GPHN
4postsynaptic membraneGO:00452119.6GLRA1, GLRB, GPHN
5cell projectionGO:00429959.2GARS, GLRA1, GLRB, GPHN
6synapseGO:00452028.9GLRA1, GLRB, GPHN

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

(show all 15)
idNameGO IDScoreTop Affiliating Genes
1acrosome reactionGO:000734010.1GLRA1, GLRB
2adult walking behaviorGO:000762810.1GLRA1, GLRB
3chloride transmembrane transportGO:190247610.1GLRA1, GLRB
4chloride transportGO:000682110.1GLRA1, GLRB
5excitatory postsynaptic potentialGO:006007910.1GLRA1, GLRB
6neuromuscular processGO:005090510.1GLRA1, GLRB
7neuropeptide signaling pathwayGO:000721810.0GLRA1, GLRB
8gamma-aminobutyric acid receptor clusteringGO:009711210.0GLRB, GPHN
9protein heterooligomerizationGO:005129110.0GLRA1, GLRB
10regulation of membrane potentialGO:00423919.8GLRA1, GLRB
11righting reflexGO:00600139.8GLRA1, GLRB
12startle responseGO:00019649.6GLRA1, GLRB
13ion transmembrane transportGO:00342209.5ARHGEF9, GLRA1, GLRB
14chemical synaptic transmissionGO:00072689.3GLRA1, GLRB, SLC6A5
15synaptic transmission, glycinergicGO:00600128.6GLRA1, GLRB, SLC6A5

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

idNameGO IDScoreTop Affiliating Genes
1chloride channel activityGO:00052549.9GLRA1, GLRB
2extracellular ligand-gated ion channel activityGO:00052309.8GLRA1, GLRB
3extracellular-glycine-gated chloride channel activityGO:00169349.8GLRA1, GLRB
4extracellular-glycine-gated ion channel activityGO:00169339.7GLRA1, GLRB
5glycine bindingGO:00165949.4GLRA1, GLRB

Sources for Hyperekplexia, Hereditary 1, Autosomal Dominant or Recessive

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet