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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

Hearing Loss Disease Portal

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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes

Disease Browser
Parent Node: Seizures (D012640)
..Starting node ..EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11 (OMIM:613721)
Child Nodes:
Sister Nodes:
..Adams Nance syndrome (C538224)
..Alcohol Withdrawal Seizures (D020270)
..Alopecia-Mental Retardation Syndrome with Convulsions and Hypergonadotropic Hypogonadism (C563370)
..Baraitser Rodeck Garner syndrome (C537906)
..Cerebroretinal Microangiopathy with Calcifications and Cysts (C567401)
..Chromosome 15q13.3 Microdeletion Syndrome (C567439)
..Convulsive Disorder, Familial, with Prenatal or Early Onset (C565678)
..Copper deficiency, familial benign (C535468)
..Cryohydrocytosis, Stomatin-Deficient, with Mental Retardation, Seizures, Cataracts, and Massive Hepatosplenomegaly (C563840)
..Dysmyelination With Jaundice (C565610)
..EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11 (OMIM:613721)
..EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 12 (OMIM:613722)
..EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5 (OMIM:613477)
..EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7 (OMIM:613720)
..Hyper-Beta-Alaninemia (C562684)
..Hyperleucine-Isoleucinemia (C562674)
..Hyperphosphatemia, Polyuria, and Seizures (C565494)
..Hypoparathyroidism-retardation-dysmorphism syndrome (C537157)
..Hypotonia, Seizures, And Precocious Puberty (C567566)
..Infantile convulsions and paroxysmal choreoathetosis, familial (C535522)
..Mental retardation, keratoconus, febrile seizures, and sinoatrial block (C537452)
..Mental retardation, X-linked, syndromic 5 (C535773)
..Methionine Malabsorption Syndrome (C562682)
..Microcephaly seizures genital hypoplasia (C537540)
..Microcephaly seizures mental retardation heart disorders (C537544)
..Microcephaly sparse hair mental retardation seizures (C537545)
..MICROCEPHALY, POSTNATAL PROGRESSIVE, WITH SEIZURES AND BRAIN ATROPHY (OMIM:613668)
..MICROCEPHALY, SEIZURES, AND DEVELOPMENTAL DELAY (OMIM:613402)
..Muller Barth Menger syndrome (C537370)
..PACHYGYRIA WITH MENTAL RETARDATION, SEIZURES, AND ARACHNOID CYSTS (OMIM:600176)
..Partington X-linked mental retardation syndrome (C536300)
..Perniola Krajewska Carnevale syndrome (C536660)
..Phosphoglycerate Dehydrogenase Deficiency (C566618)
..Phosphoserine Aminotransferase Deficiency (C567032)
..Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency (C566449)
..Qazi Markouizos syndrome (C536259)
..SeSAME syndrome (C557674)
..Tranebjaerg Svejgaard syndrome (C536978)
..Warman Mulliken Hayward syndrome (C536684)
..X-linked mental retardation Gustavson type (C536759)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

3902

Name:

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11

Definition:

Alternative IDs:

ParentIDs:

MESH:D012640

TreeNumbers:

C10.228.140.490.631/613721 |C10.597.742/613721 |C23.888.592.742/613721

Synonyms:

EIEE11

Slim Mappings:

Nervous system disease|Signs and symptoms

Reference:

MedGen: 613721
MeSH: 613721
OMIM: 613721;

Genes: SCN2A;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0003593	Infantile onset
3	HP:0002069	Bilateral tonic-clonic seizure
4	HP:0200134	Epileptic encephalopathy
5	HP:0001263	Global developmental delay
6	HP:0002510	Spastic tetraplegia
7	HP:0002133	Status epilepticus
8	HP:0003828	Variable expressivity

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
NM_001040142.1(SCN2A):c.304C>T (p.Arg102Ter)	6326	SCN2A	Pathogenic	387906683	RCV000022766;	N	MedGen:C3150987,OMIM:613721	2	166153563	166153563	NM_001040142.1:c.304C>T	NP_001035232.1:p.Arg102Ter	NC_000002.11:g.166153563C>T	OMIM Allelic Variant:182390.0008	C3150987 613721 Early infantile epileptic encephalopathy 11
NM_021007.2(SCN2A):c.788C>T (p.Ala263Val)	6326	SCN2A	Pathogenic	387906686	RCV000118251; RCV000022769; RCV000189193;	N	MedGen:C1843140,OMIM:607745,ORPHA:140927; MedGen:C3150987,OMIM:613721; MedGen:CN221809	2	166166923	166166923	NM_021007.2:c.788C>T	NP_066287.2:p.Ala263Val	NC_000002.11:g.166166923C>T	OMIM Allelic Variant:182390.0011	C1843140 607745 Benign familial neonatal-infantile seizures; C3150987 613721 Early infantile epileptic encephalopathy 11; CN221809 not provided
NM_021007.2(SCN2A):c.1267G>C (p.Val423Leu)	6326	SCN2A	Likely pathogenic	796053180	RCV000190517; RCV000189206;	N	MedGen:C3150987,OMIM:613721; MedGen:CN221809	2	166170502	166170502	NM_021007.2:c.1267G>C	NP_066287.2:p.Val423Leu	NC_000002.11:g.166170502G>C	-	C3150987 613721 Early infantile epileptic encephalopathy 11; CN221809 not provided
NM_021007.2(SCN2A):c.1785T>C (p.Asp595=)	6326	SCN2A	Benign	141815642	RCV000118253; RCV000204044;	N	MedGen:C1843140,OMIM:607745,ORPHA:140927; MedGen:C3150987,OMIM:613721; MedGen:CN169374	2	166179779	166179779	NM_021007.2:c.1785T>C	NP_066287.2:p.Asp595=	NC_000002.11:g.166179779T>C	-	C1843140 607745 Benign familial neonatal-infantile seizures; C3150987 613721 Early infantile epileptic encephalopathy 11; CN169374 not specified
NM_021007.2(SCN2A):c.2558G>A (p.Arg853Gln)	6326	SCN2A	Likely pathogenic;Pathogenic	794727152	RCV000197677; RCV000174944;	N	MedGen:C3150987,OMIM:613721; MedGen:CN221809	2	166198975	166198975	NM_021007.2:c.2558G>A	NP_066287.2:p.Arg853Gln	NC_000002.11:g.166198975G>A	-	C3150987 613721 Early infantile epileptic encephalopathy 11; CN221809 not provided
NM_021007.2(SCN2A):c.2723A>G (p.Lys908Arg)	6326	SCN2A	Benign	2228980	RCV000118255; RCV000205639;	N	MedGen:C1843140,OMIM:607745,ORPHA:140927; MedGen:C3150987,OMIM:613721; MedGen:CN169374	2	166201225	166201225	NM_021007.2:c.2723A>G	NP_066287.2:p.Lys908Arg	NC_000002.11:g.166201225A>G	-	C1843140 607745 Benign familial neonatal-infantile seizures; C3150987 613721 Early infantile epileptic encephalopathy 11; CN169374 not specified
NM_021007.2(SCN2A):c.2960G>T (p.Ser987Ile)	6326	SCN2A	Likely pathogenic;Pathogenic	796053124	RCV000195526; RCV000189127;	N	MedGen:C3150987,OMIM:613721; MedGen:CN221809	2	166210742	166210742	NM_021007.2:c.2960G>T	NP_066287.2:p.Ser987Ile	NC_000002.11:g.166210742G>T	-	C3150987 613721 Early infantile epileptic encephalopathy 11; CN221809 not provided
NM_021007.2(SCN2A):c.3631G>A (p.Glu1211Lys)	6326	SCN2A	Likely pathogenic;Pathogenic	387906684	RCV000118248; RCV000022767; RCV000189138;	N	MedGen:C1843140,OMIM:607745,ORPHA:140927; MedGen:C3150987,OMIM:613721; MedGen:CN221809	2	166223837	166223837	NM_021007.2:c.3631G>A	NP_066287.2:p.Glu1211Lys	NC_000002.11:g.166223837G>A	OMIM Allelic Variant:182390.0009	C1843140 607745 Benign familial neonatal-infantile seizures; C3150987 613721 Early infantile epileptic encephalopathy 11; CN221809 not provided
NM_001040142.1(SCN2A):c.4419A>G (p.Ile1473Met)	6326	SCN2A	Pathogenic	387906685	RCV000022768;	N	MedGen:C3150987,OMIM:613721	2	166237212	166237212	NM_001040142.1:c.4419A>G	NP_001035232.1:p.Ile1473Met	NC_000002.11:g.166237212A>G	OMIM Allelic Variant:182390.0010	C3150987 613721 Early infantile epileptic encephalopathy 11
NM_001040142.1(SCN2A):c.4468A>G (p.Met1490Val)	6326	SCN2A	Pathogenic	869312663	RCV000209898;	N	MedGen:C3150987,OMIM:613721	2	166237624	166237624	NM_001040142.1:c.4468A>G	NP_001035232.1:p.Met1490Val	NC_000002.11:g.166237624A>G	-	C3150987 613721 Early infantile epileptic encephalopathy 11
NM_001040142.1(SCN2A):c.4726G>A (p.Gly1576Arg)	6326	SCN2A	Pathogenic	869312664	RCV000209946;	N	MedGen:C3150987,OMIM:613721	2	166243430	166243430	NM_001040142.1:c.4726G>A	NP_001035232.1:p.Gly1576Arg	NC_000002.11:g.166243430G>A	-	C3150987 613721 Early infantile epileptic encephalopathy 11
NM_021007.2(SCN2A):c.5326C>T (p.Leu1776=)	6326	SCN2A	Benign	138123155	RCV000127930; RCV000204687;	N	MedGen:C1843140,OMIM:607745,ORPHA:140927; MedGen:C3150987,OMIM:613721; MedGen:CN169374	2	166245642	166245642	NM_021007.2:c.5326C>T	NP_066287.2:p.Leu1776=	NC_000002.11:g.166245642C>T	-	C1843140 607745 Benign familial neonatal-infantile seizures; C3150987 613721 Early infantile epileptic encephalopathy 11; CN169374 not specified
NM_021007.2(SCN2A):c.5645G>A (p.Arg1882Gln)	6326	SCN2A	Likely pathogenic;Pathogenic	794727444	RCV000176762; RCV000176763; RCV000189181;	N	MedGen:C1843140,OMIM:607745,ORPHA:140927; MedGen:C3150987,OMIM:613721; MedGen:CN221809	2	166245961	166245961	NM_021007.2:c.5645G>A	NP_066287.2:p.Arg1882Gln	NC_000002.11:g.166245961G>A,NC_000002.11:g.166245961G>T	-	C1843140 607745 Benign familial neonatal-infantile seizures; C3150987 613721 Early infantile epileptic encephalopathy 11; CN221809 not provided