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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, 7 (OMIM:613720)
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:

3908

Name:

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7

Definition:

Alternative IDs:

ParentIDs:

MESH:D012640

TreeNumbers:

C10.228.140.490.631/613720 |C10.597.742/613720 |C23.888.592.742/613720

Synonyms:

EIEE7

Slim Mappings:

Nervous system disease|Signs and symptoms

Reference:

MedGen: 613720
MeSH: 613720
OMIM: 613720;

Genes: KCNQ2;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0003593	Infantile onset
3	HP:0001332	Dystonia
4	HP:0200134	Epileptic encephalopathy
5	HP:0001290	Generalized hypotonia
6	HP:0001263	Global developmental delay
7	HP:0002079	Hypoplasia of the corpus callosum	HP:0040283
8	HP:0001249	Intellectual disability
9	HP:0001250	Seizure
10	HP:0001285	Spastic tetraparesis

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_172107.3(KCNQ2):c.2147C>T (p.Thr716Ile)	3785	KCNQ2	Pathogenic	864321711	RCV000203584;	N	MedGen:C3150986,OMIM:613720	20	62038469	62038469	NM_172107.3:c.2147C>T	NP_742105.1:p.Thr716Ile	NC_000020.10:g.62038469G>A	-	C3150986 613720 Early infantile epileptic encephalopathy 7
NM_172107.3(KCNQ2):c.1662G>T (p.Lys554Asn)	3785	KCNQ2	Pathogenic	267607198	RCV000007813; RCV000023180;	N	MedGen:C1852587,OMIM:121200; MedGen:C3150986,OMIM:613720	20	62044904	62044904	NM_172107.3:c.1662G>T	NP_742105.1:p.Lys554Asn		OMIM Allelic Variant:602235.0007	C1852587 121200 Benign familial neonatal seizures 1; C3150986 613720 Early infantile epileptic encephalopathy 7
NM_172107.3(KCNQ2):c.1636A>G (p.Met546Val)	3785	KCNQ2	Pathogenic	397515420	RCV000032980;	N	MedGen:C3150986,OMIM:613720	20	62044930	62044930	NM_172107.3:c.1636A>G	NP_742105.1:p.Met546Val	NC_000020.10:g.62044930T>C	OMIM Allelic Variant:602235.0013	C3150986 613720 Early infantile epileptic encephalopathy 7
NM_172107.3(KCNQ2):c.1197delT (p.Ser399Argfs)	3785	KCNQ2	Pathogenic	587780365	RCV000117334;	N	MedGen:C3150986,OMIM:613720	20	62059740	62059740	NM_172107.3:c.1197delT	NP_742105.1:p.Ser399Argfs	NC_000020.10:g.62059740delA	-	C3150986 613720 Early infantile epileptic encephalopathy 7
NM_172107.3(KCNQ2):c.943G>C (p.Gly315Arg)	3785	KCNQ2	Pathogenic	864321709	RCV000203599;	N	MedGen:C3150986,OMIM:613720	20	62070058	62070058	NM_172107.3:c.943G>C	NP_742105.1:p.Gly315Arg	NC_000020.10:g.62070058C>G	-	C3150986 613720 Early infantile epileptic encephalopathy 7
NM_172107.3(KCNQ2):c.917C>T (p.Ala306Val)	3785	KCNQ2	Pathogenic	864321707	RCV000203598;	N	MedGen:C3150986,OMIM:613720	20	62070961	62070961	NM_172107.3:c.917C>T	NP_742105.1:p.Ala306Val	NC_000020.10:g.62070961G>A	-	C3150986 613720 Early infantile epileptic encephalopathy 7
NM_172107.3(KCNQ2):c.881C>T (p.Ala294Val)	3785	KCNQ2	Pathogenic	118192211	RCV000203604; RCV000187883;	N	MedGen:C3150986,OMIM:613720; MedGen:CN221809	20	62070997	62070997	NM_172107.3:c.881C>T	NP_742105.1:p.Ala294Val		-	C3150986 613720 Early infantile epileptic encephalopathy 7; CN221809 not provided
NM_172107.3(KCNQ2):c.869G>A (p.Gly290Asp)	3785	KCNQ2	Pathogenic	397514582	RCV000032981;	N	MedGen:C3150986,OMIM:613720	20	62071009	62071009	NM_172107.3:c.869G>A	NP_742105.1:p.Gly290Asp	NC_000020.10:g.62071009C>T	OMIM Allelic Variant:602235.0014	C3150986 613720 Early infantile epileptic encephalopathy 7
NM_172107.3(KCNQ2):c.850T>G (p.Tyr284Asp)	3785	KCNQ2	Pathogenic	864321706	RCV000203589;	N	MedGen:C3150986,OMIM:613720	20	62071028	62071028	NM_172107.3:c.850T>G	NP_742105.1:p.Tyr284Asp	NC_000020.10:g.62071028A>C	-	C3150986 613720 Early infantile epileptic encephalopathy 7
NM_172107.3(KCNQ2):c.841G>T (p.Gly281Trp)	3785	KCNQ2	Pathogenic	794727813	RCV000196180;	N	MedGen:C3150986,OMIM:613720	20	62071037	62071037	NM_172107.3:c.841G>T	NP_742105.1:p.Gly281Trp		-	C3150986 613720 Early infantile epileptic encephalopathy 7
NM_172107.3(KCNQ2):c.821C>T (p.Thr274Met)	3785	KCNQ2	Pathogenic;Uncertain significance	727503974	RCV000203603; RCV000153394;	N	MedGen:C3150986,OMIM:613720; MedGen:CN221809	20	62071057	62071057	NM_172107.3:c.821C>T	NP_742105.1:p.Thr274Met		HGMD:CM120572	C3150986 613720 Early infantile epileptic encephalopathy 7; CN221809 not provided
NM_172107.3(KCNQ2):c.803T>C (p.Leu268Pro)	3785	KCNQ2	Pathogenic	864321708	RCV000203583;	N	MedGen:C3150986,OMIM:613720	20	62073772	62073772	NM_172107.3:c.803T>C	NP_742105.1:p.Leu268Pro	NC_000020.10:g.62073772A>G	-	C3150986 613720 Early infantile epileptic encephalopathy 7
NM_172107.3(KCNQ2):c.794C>T (p.Ala265Val)	3785	KCNQ2	Pathogenic	587777219	RCV000106299; RCV000187868;	N	MedGen:C3150986,OMIM:613720; MedGen:CN221809	20	62073781	62073781	NM_172107.3:c.794C>T	NP_742105.1:p.Ala265Val		OMIM Allelic Variant:602235.0015	C3150986 613720 Early infantile epileptic encephalopathy 7; CN221809 not provided
NM_172107.3(KCNQ2):c.740C>G (p.Ser247Trp)	3785	KCNQ2	Pathogenic	74315392	RCV000030675; RCV000030664;	N	MedGen:C1852587,OMIM:121200; MedGen:C3150986,OMIM:613720	20	62073835	62073835	NM_172107.3:c.740C>G	NP_742105.1:p.Ser247Trp		OMIM Allelic Variant:602235.0008	C1852587 121200 Benign familial neonatal seizures 1; C3150986 613720 Early infantile epileptic encephalopathy 7
NM_172107.3(KCNQ2):c.698_699insACC (p.Val233_Thr234insPro)	3785	KCNQ2	Likely pathogenic	794729197	RCV000184016;	N	MedGen:C3150986,OMIM:613720	20	62073876	62073877	NM_172107.3:c.698_699insACC	NP_742105.1:p.Val233_Thr234insPro	NC_000020.10:g.62073876_62073877insGGT	-	C3150986 613720 Early infantile epileptic encephalopathy 7
NM_172107.3(KCNQ2):c.638G>A (p.Arg213Gln)	3785	KCNQ2	Likely pathogenic;Pathogenic	397514581	RCV000032979; RCV000187867;	N	MedGen:C3150986,OMIM:613720; MedGen:CN221809	20	62076064	62076064	NM_172107.3:c.638G>A	NP_742105.1:p.Arg213Gln		OMIM Allelic Variant:602235.0012	C3150986 613720 Early infantile epileptic encephalopathy 7; CN221809 not provided
NM_172107.3(KCNQ2):c.637C>T (p.Arg213Trp)	3785	KCNQ2	Pathogenic	118192203	RCV000021005; RCV000178400; RCV000187866;	N	MedGen:C1852587,OMIM:121200; MedGen:C3150986,OMIM:613720; MedGen:CN221809	20	62076065	62076065	NM_172107.3:c.637C>T	NP_742105.1:p.Arg213Trp		-	C1852587 121200 Benign familial neonatal seizures 1; C3150986 613720 Early infantile epileptic encephalopathy 7; CN221809 not provided
NM_172107.3(KCNQ2):c.601C>T (p.Arg201Cys)	3785	KCNQ2	Pathogenic	796052623	RCV000203591; RCV000187858;	N	MedGen:C3150986,OMIM:613720; MedGen:CN221809	20	62076101	62076101	NM_172107.3:c.601C>T	NP_742105.1:p.Arg201Cys		-	C3150986 613720 Early infantile epileptic encephalopathy 7; CN221809 not provided
NM_172107.3(KCNQ2):c.388G>A (p.Glu130Lys)	3785	KCNQ2	Pathogenic	864321710	RCV000203592;	N	MedGen:C3150986,OMIM:613720	20	62076717	62076717	NM_172107.3:c.388G>A	NP_742105.1:p.Glu130Lys	NC_000020.10:g.62076717C>T	-	C3150986 613720 Early infantile epileptic encephalopathy 7