MCID: SPR097
MIFTS: 13

Sporadic Hyperekplexia

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

Aliases & Classifications for Sporadic Hyperekplexia

MalaCards integrated aliases for Sporadic Hyperekplexia:

Name: Sporadic Hyperekplexia 59

Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

Orphanet 59 ORPHA306776
ICD10 via Orphanet 34 G25.8

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 10.4
2 spastic paraparesis 9.9
3 encephalopathy 9.9
4 spasticity 9.9

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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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