IHHS
MCID: IDP067
MIFTS: 18

Idiopathic Hemiconvulsion-Hemiplegia Syndrome (IHHS)

Categories: Neuronal diseases, Rare diseases

Aliases & Classifications for Idiopathic Hemiconvulsion-Hemiplegia Syndrome

MalaCards integrated aliases for Idiopathic Hemiconvulsion-Hemiplegia Syndrome:

Name: Idiopathic Hemiconvulsion-Hemiplegia Syndrome 58
Hemiconvulsion-Hemiplegia-Epilepsy Syndrome 58 36
Hemiplegia-Hemiconvulsion-Epilepsy Syndrome 6 71
Hhe Syndrome 58
Ihhs 58

Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

KEGG 36 H01808
ICD10 via Orphanet 33 G40.4
UMLS via Orphanet 72 C0549118
Orphanet 58 ORPHA86908
UMLS 71 C0549118

Summaries for Idiopathic Hemiconvulsion-Hemiplegia Syndrome

KEGG : 36 Hemiconvulsion-hemiplegia-epilepsy (HHE) syndrome is a rare condition involving sudden and prolonged unilateral seizures in infancy and early childhood, followed by hemiplegia. The prolonged focal motor seizure usually occurs during the course of a febrile illness and is followed by hemiplegia ipsilateral to the side of convulsions. Although hemiplegia is usually permanent, it may disappear in about 20% of cases. Some patients with familial hemiplegic migraine and manifesting the S218L mutation in CACNA1A were reported to experience severe attacks with unilateral cerebral edema after trivial head trauma. It has shown that CACNA1A associate with HHE and familial hemiplegic migraine, and suggested that similar pathogenic mechanisms may underlie these two disorders.

MalaCards based summary : Idiopathic Hemiconvulsion-Hemiplegia Syndrome, also known as hemiconvulsion-hemiplegia-epilepsy syndrome, is related to hypogonadotropic hypogonadism 7 with or without anosmia and brachydactyly, type a1. Affiliated tissues include brain, lung and temporal lobe.

Related Diseases for Idiopathic Hemiconvulsion-Hemiplegia Syndrome

Diseases related to Idiopathic Hemiconvulsion-Hemiplegia Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 100)
# Related Disease Score Top Affiliating Genes
1 hypogonadotropic hypogonadism 7 with or without anosmia 12.1
2 brachydactyly, type a1 11.5
3 hypogonadotropic hypogonadism 11.4
4 acrocapitofemoral dysplasia 11.4
5 hypogonadotropic hypogonadism 9 with or without anosmia 11.4
6 hypogonadotropic hypogonadism 2 with or without anosmia 11.1
7 hypogonadotropic hypogonadism 3 with or without anosmia 11.1
8 hypogonadotropic hypogonadism 1 with or without anosmia 11.1
9 hypogonadotropic hypogonadism 4 with or without anosmia 11.1
10 hypogonadotropic hypogonadism 5 with or without anosmia 11.1
11 hypogonadotropic hypogonadism 6 with or without anosmia 11.1
12 hypogonadotropic hypogonadism 8 with or without anosmia 11.1
13 hypogonadotropic hypogonadism 10 with or without anosmia 11.1
14 hypogonadotropic hypogonadism 11 with or without anosmia 11.1
15 hypogonadotropic hypogonadism 12 with or without anosmia 11.1
16 hypogonadotropic hypogonadism 13 with or without anosmia 11.1
17 hypogonadotropic hypogonadism 14 with or without anosmia 11.1
18 hypogonadotropic hypogonadism 15 with or without anosmia 11.1
19 hypogonadotropic hypogonadism 16 with or without anosmia 11.1
20 hypogonadotropic hypogonadism 17 with or without anosmia 11.1
21 hypogonadotropic hypogonadism 18 with or without anosmia 11.1
22 hypogonadotropic hypogonadism 19 with or without anosmia 11.1
23 hypogonadotropic hypogonadism 20 with or without anosmia 11.1
24 hypogonadotropic hypogonadism 21 with or without anosmia 11.1
25 hypogonadotropic hypogonadism 22 with or without anosmia 11.1
26 visual epilepsy 10.6
27 seizure disorder 10.6
28 febrile seizures 10.6
29 brachydactyly 10.6
30 hydrops, lactic acidosis, and sideroblastic anemia 10.5
31 focal epilepsy 10.5
32 encephalopathy 10.5
33 hypogonadism 10.4
34 craniosynostosis 10.4
35 hypogonadotropism 10.4
36 migraine with or without aura 1 10.3
37 thrombophilia due to thrombin defect 10.3
38 lipoid congenital adrenal hyperplasia 10.3
39 l-2-hydroxyglutaric aciduria 10.3
40 ocular motor apraxia 10.3
41 polydactyly 10.3
42 epileptic encephalopathy, early infantile, 6 10.3
43 alacrima, achalasia, and mental retardation syndrome 10.3
44 west syndrome 10.3
45 2-hydroxyglutaric aciduria 10.3
46 aphasia 10.3
47 familial hemiplegic migraine 10.3
48 microcephaly 10.3
49 gastroenteritis 10.3
50 protein s deficiency 10.3

Graphical network of the top 20 diseases related to Idiopathic Hemiconvulsion-Hemiplegia Syndrome:



Diseases related to Idiopathic Hemiconvulsion-Hemiplegia Syndrome

Symptoms & Phenotypes for Idiopathic Hemiconvulsion-Hemiplegia Syndrome

Drugs & Therapeutics for Idiopathic Hemiconvulsion-Hemiplegia Syndrome

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Clinical Characteristics of Infantile Hemangioma: a Prospective Study Recruiting NCT03331744

Search NIH Clinical Center for Idiopathic Hemiconvulsion-Hemiplegia Syndrome

Genetic Tests for Idiopathic Hemiconvulsion-Hemiplegia Syndrome

Anatomical Context for Idiopathic Hemiconvulsion-Hemiplegia Syndrome

MalaCards organs/tissues related to Idiopathic Hemiconvulsion-Hemiplegia Syndrome:

40
Brain, Lung, Temporal Lobe

Publications for Idiopathic Hemiconvulsion-Hemiplegia Syndrome

Articles related to Idiopathic Hemiconvulsion-Hemiplegia Syndrome:

# Title Authors PMID Year
1
Fatal outcome in hemiconvulsion-hemiplegia syndrome. 61
23271756 2014
2
Autoimmune and inflammatory epilepsies. 61
22946722 2012
3
Acute encephalopathy with inflammation-mediated status epilepticus. 61
21163447 2011
4
A new case of idiopathic hemiplegia hemiconvulsion syndrome. 61
20464571 2010

Variations for Idiopathic Hemiconvulsion-Hemiplegia Syndrome

ClinVar genetic disease variations for Idiopathic Hemiconvulsion-Hemiplegia Syndrome:

6 ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CACNA1A NM_001127221.1(CACNA1A):c.1199A>T (p.Glu400Val)SNV not provided 684467 19:13443739-13443739 19:13332925-13332925

Expression for Idiopathic Hemiconvulsion-Hemiplegia Syndrome

Search GEO for disease gene expression data for Idiopathic Hemiconvulsion-Hemiplegia Syndrome.

Pathways for Idiopathic Hemiconvulsion-Hemiplegia Syndrome

GO Terms for Idiopathic Hemiconvulsion-Hemiplegia Syndrome

Sources for Idiopathic Hemiconvulsion-Hemiplegia Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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