Disease browser and phenotype portal

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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Disease Browser
Parent Node: Epilepsy (D004827)
Parent Node: Genetic Diseases, X-Linked (D040181)
Parent Node: Reflex, Abnormal (D012021)
..Starting node ..Hyperekplexia and Epilepsy (C564474)
Child Nodes:
Sister Nodes:
..Bahemuka Brown syndrome (C537797)
..CAPOS syndrome (C535351)
..External Ophthalmoplegia, Synergistic Divergence, Jaw Winking, and Oculocutaneous Hypopigmentation (C566509)
..Hyperekplexia and Epilepsy (C564474)
..Marcus Gunn phenomenon (C535908)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

5366

Name:

Hyperekplexia and Epilepsy

Definition:

Alternative IDs:

OMIM:300607

ParentIDs:

MESH:D004827|MESH:D012021|MESH:D040181

TreeNumbers:

C10.228.140.490/C564474 |C10.597.704/C564474 |C16.320.322/C564474 |C23.888.592.717/C564474

Synonyms:

EIEE8 |EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 8 |HYPEREKPLEXIA AND EPILEPSY

Slim Mappings:

Genetic disease (inborn)|Nervous system disease|Signs and symptoms

Reference:

MedGen: C564474
MeSH: C564474
OMIM: 300607;

Genes: ARHGEF9;

Phenotypes

1	HP:0001419	X-linked recessive inheritance
2	HP:0003577	Congenital onset
3	HP:0200134	Epileptic encephalopathy
4	HP:0002267	Exaggerated startle response
5	HP:0001276	Hypertonia
6	HP:0006887	Intellectual disability, progressive
7	HP:0010864	Intellectual disability, severe
8	HP:0001250	Seizure

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_c	HGVS_p	HGVS_g	OtherIDs	Disease_ClinVar	Disease_hgmd
NM_015185.2(ARHGEF9):c.164G>C (p.Gly55Ala)	23229	ARHGEF9	Pathogenic	121918361	RCV000011796;	N	MedGen:C1845102,OMIM:300607,ORPHA:163985	X	62944437	62944437	NM_015185.2:c.164G>C	NP_056000.1:p.Gly55Ala	NC_000023.10:g.62944437C>G	OMIM Allelic Variant:300429.0001	C1845102 300607 Early infantile epileptic encephalopathy 8
NM_001173479.1(ARHGEF9):c.4C>T (p.Gln2Ter)	23229	ARHGEF9	Pathogenic	397514460	RCV000022860;	N	MedGen:C1845102,OMIM:300607,ORPHA:163985	X	63005022	63005022	NM_001173479.1:c.4C>T	NP_001166950.1:p.Gln2Ter	NC_000023.10:g.63005022G>A	OMIM Allelic Variant:300429.0002	C1845102 300607 Early infantile epileptic encephalopathy 8