MCID: SPR097
MIFTS: 12

Sporadic Hyperekplexia

Categories: Genetic diseases, Mental diseases, Metabolic diseases, Muscle diseases, Neuronal diseases, Rare diseases, Respiratory diseases

Aliases & Classifications for Sporadic Hyperekplexia

MalaCards integrated aliases for Sporadic Hyperekplexia:

Name: Sporadic Hyperekplexia 58

Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

ICD10 via Orphanet 33 G25.8
Orphanet 58 ORPHA306776

Summaries for Sporadic Hyperekplexia

MalaCards based summary : Sporadic Hyperekplexia is related to hyperekplexia and hyperekplexia 1. An important gene associated with Sporadic Hyperekplexia is GLRA1 (Glycine Receptor Alpha 1).

Related Diseases for Sporadic Hyperekplexia

Diseases in the Hyperekplexia family:

Hyperekplexia 1 Hyperekplexia 3
Hyperekplexia 2 Hyperekplexia 4
Sporadic Hyperekplexia

Diseases related to Sporadic Hyperekplexia via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 12)
# Related Disease Score Top Affiliating Genes
1 hyperekplexia 10.4
2 hyperekplexia 1 10.1
3 hypertonia 10.1
4 jumping frenchmen of maine 9.9
5 schwartz-jampel syndrome, type 1 9.9
6 ataxia and polyneuropathy, adult-onset 9.9
7 pontocerebellar hypoplasia 9.9
8 early myoclonic encephalopathy 9.9
9 encephalitis 9.9
10 spastic paraparesis 9.9
11 encephalopathy 9.9
12 rare movement disorder 9.9

Graphical network of the top 20 diseases related to Sporadic Hyperekplexia:



Diseases related to Sporadic Hyperekplexia

Symptoms & Phenotypes for Sporadic Hyperekplexia

Drugs & Therapeutics for Sporadic Hyperekplexia

Search Clinical Trials , NIH Clinical Center for Sporadic Hyperekplexia

Genetic Tests for Sporadic Hyperekplexia

Anatomical Context for Sporadic Hyperekplexia

Publications for Sporadic Hyperekplexia

Articles related to Sporadic Hyperekplexia:

(show all 14)
# Title Authors PMID Year
1
Sporadic Hyperekplexia Plus Syndrome. 61
28553377 2017
2
Sporadic hyperekplexia due to self-limiting brainstem encephalopathy. 61
29062233 2017
3
Sporadic hyperekplexia presenting with an ataxic gait. 61
24054400 2014
4
Pontine hyperperfusion in sporadic hyperekplexia. 61
17702784 2007
5
Mutations in the gene encoding GlyT2 (SLC6A5) define a presynaptic component of human startle disease. 61
16751771 2006
6
Frontal lobe dysfunction in sporadic hyperekplexia--case study and literature review. 61
14999495 2004
7
A novel mutation (R218Q) at the boundary between the N-terminal and the first transmembrane domain of the glycine receptor in a case of sporadic hyperekplexia. 61
12746425 2003
8
Hyperekplexia in a girl with posterior fossa malformations. 61
11952078 2002
9
Compound heterozygosity and nonsense mutations in the alpha(1)-subunit of the inhibitory glycine receptor in hyperekplexia. 61
11702206 2001
10
Beneficial effect of fluoxetine in a case of sporadic hyperekplexia. 61
10895400 2000
11
Hyperekplexia in a patient with a brainstem vascular anomaly. 61
10225359 1999
12
Neonatal sporadic hyperekplexia: a rare and often unrecognized entity. 61
9134197 1997
13
Analysis of GLRA1 in hereditary and sporadic hyperekplexia: a novel mutation in a family cosegregating for hyperekplexia and spastic paraparesis. 61
8733061 1996
14
Mutational analysis of familial and sporadic hyperekplexia. 61
7611730 1995

Variations for Sporadic Hyperekplexia

Expression for Sporadic Hyperekplexia

Search GEO for disease gene expression data for Sporadic Hyperekplexia.

Pathways for Sporadic Hyperekplexia

GO Terms for Sporadic Hyperekplexia

Sources for Sporadic Hyperekplexia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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