MCID: SPR097
MIFTS: 13

Sporadic Hyperekplexia

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

Aliases & Classifications for Sporadic Hyperekplexia

MalaCards integrated aliases for Sporadic Hyperekplexia:

Name: Sporadic Hyperekplexia 60

Classifications:

Orphanet: 60  
Rare neurological diseases


External Ids:

ICD10 via Orphanet 35 G25.8
Orphanet 60 ORPHA306776

Summaries for Sporadic Hyperekplexia

MalaCards based summary : Sporadic Hyperekplexia is related to hyperekplexia and spastic paraparesis. 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:

# Related Disease Score Top Affiliating Genes
1 hyperekplexia 10.5
2 spastic paraparesis 10.0
3 encephalopathy 10.0

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:

# Title Authors Year
1
Sporadic Hyperekplexia Plus Syndrome. ( 28553377 )
2017
2
Sporadic hyperekplexia due to self-limiting brainstem encephalopathy. ( 29062233 )
2017
3
Sporadic hyperekplexia presenting with an ataxic gait. ( 24054400 )
2014
4
Pontine hyperperfusion in sporadic hyperekplexia. ( 17702784 )
2007
5
Frontal lobe dysfunction in sporadic hyperekplexia--case study and literature review. ( 14999495 )
2004
6
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. ( 12746425 )
2003
7
Beneficial effect of fluoxetine in a case of sporadic hyperekplexia. ( 10895400 )
2000
8
Neonatal sporadic hyperekplexia: a rare and often unrecognized entity. ( 9134197 )
1997
9
Analysis of GLRA1 in hereditary and sporadic hyperekplexia: a novel mutation in a family cosegregating for hyperekplexia and spastic paraparesis. ( 8733061 )
1996
10
Mutational analysis of familial and sporadic hyperekplexia. ( 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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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