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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

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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, 5 (OMIM:613477)
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:

3907

Name:

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5

Definition:

Alternative IDs:

ParentIDs:

MESH:D012640

TreeNumbers:

C10.228.140.490.631/613477 |C10.597.742/613477 |C23.888.592.742/613477

Synonyms:

EIEE5

Slim Mappings:

Nervous system disease|Signs and symptoms

Reference:

MedGen: 613477
MeSH: 613477
OMIM: 613477;

Genes: SPTAN1;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0003593	Infantile onset
3	HP:0007366	Atrophy/Degeneration affecting the brainstem
4	HP:0001272	Cerebellar atrophy
5	HP:0002059	Cerebral atrophy
6	HP:0003429	CNS hypomyelination
7	HP:0200134	Epileptic encephalopathy
8	HP:0001290	Generalized hypotonia
9	HP:0001347	Hyperreflexia
10	HP:0002079	Hypoplasia of the corpus callosum
11	HP:0002521	Hypsarrhythmia
12	HP:0002187	Intellectual disability, profound
13	HP:0010864	Intellectual disability, severe
14	HP:0000253	Progressive microcephaly	HP:0040282
15	HP:0001250	Seizure
16	HP:0002510	Spastic tetraplegia
17	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_001130438.2(SPTAN1):c.1330G>A (p.Val444Ile)	6709	SPTAN1	Benign;Uncertain significance	77358650	RCV000147605; RCV000128230;	N	MedGen:C3150731,OMIM:613477; MedGen:CN169374	9	131343207	131343207	NM_001130438.2:c.1330G>A	NP_001123910.1:p.Val444Ile	NC_000009.11:g.131343207G>A	-	C3150731 613477 Early infantile epileptic encephalopathy 5; CN169374 not specified
NM_001130438.2(SPTAN1):c.1389C>T (p.Tyr463=)	6709	SPTAN1	Uncertain significance	587784431	RCV000147606;	N	MedGen:C3150731,OMIM:613477	9	131343266	131343266	NM_001130438.2:c.1389C>T	NP_001123910.1:p.Tyr463=	NC_000009.11:g.131343266C>T	-	C3150731 613477 Early infantile epileptic encephalopathy 5
NM_001130438.2(SPTAN1):c.1603C>A (p.Gln535Lys)	6709	SPTAN1	Uncertain significance	79650677	RCV000147608;	N	MedGen:C3150731,OMIM:613477	9	131344788	131344788	NM_001130438.2:c.1603C>A	NP_001123910.1:p.Gln535Lys	NC_000009.11:g.131344788C>A	-	C3150731 613477 Early infantile epileptic encephalopathy 5
NM_001130438.2(SPTAN1):c.1677C>G (p.His559Gln)	6709	SPTAN1	Uncertain significance	587784432	RCV000147609;	N	MedGen:C3150731,OMIM:613477	9	131344999	131344999	NM_001130438.2:c.1677C>G	NP_001123910.1:p.His559Gln	NC_000009.11:g.131344999C>G	-	C3150731 613477 Early infantile epileptic encephalopathy 5
NM_001130438.2(SPTAN1):c.1697G>A (p.Arg566Gln)	6709	SPTAN1	Uncertain significance	370304886	RCV000147610;	N	MedGen:C3150731,OMIM:613477	9	131345019	131345019	NM_001130438.2:c.1697G>A	NP_001123910.1:p.Arg566Gln	NC_000009.11:g.131345019G>A,NC_000009.11:g.131345019G>C	-	C3150731 613477 Early infantile epileptic encephalopathy 5
NM_001130438.2(SPTAN1):c.1710C>T (p.Ala570=)	6709	SPTAN1	Benign;Uncertain significance	115428827	RCV000147611; RCV000128232;	N	MedGen:C3150731,OMIM:613477; MedGen:CN169374	9	131345032	131345032	NM_001130438.2:c.1710C>T	NP_001123910.1:p.Ala570=	NC_000009.11:g.131345032C>T	-	C3150731 613477 Early infantile epileptic encephalopathy 5; CN169374 not specified
NM_001130438.2(SPTAN1):c.2064G>A (p.Glu688=)	6709	SPTAN1	Uncertain significance	587784433	RCV000147613;	N	MedGen:C3150731,OMIM:613477	9	131346119	131346119	NM_001130438.2:c.2064G>A	NP_001123910.1:p.Glu688=	NC_000009.11:g.131346119G>A	-	C3150731 613477 Early infantile epileptic encephalopathy 5
NM_001130438.2(SPTAN1):c.2438-13T>G	6709	SPTAN1	Uncertain significance	587784434	RCV000147615;	N	MedGen:C3150731,OMIM:613477	9	131346987	131346987	NM_001130438.2:c.2438-13T>G		NC_000009.11:g.131346987T>G	-	C3150731 613477 Early infantile epileptic encephalopathy 5
NM_001130438.2(SPTAN1):c.2674G>T (p.Ala892Ser)	6709	SPTAN1	Uncertain significance	587784435	RCV000147618;	N	MedGen:C3150731,OMIM:613477	9	131348140	131348140	NM_001130438.2:c.2674G>T	NP_001123910.1:p.Ala892Ser	NC_000009.11:g.131348140G>T	-	C3150731 613477 Early infantile epileptic encephalopathy 5
NM_001130438.2(SPTAN1):c.2889G>A (p.Thr963=)	6709	SPTAN1	Likely benign;Uncertain significance	34654141	RCV000147620; RCV000176174; RCV000189445;	N	MedGen:C3150731,OMIM:613477; MedGen:CN169374; MedGen:CN221809	9	131351105	131351105	NM_001130438.2:c.2889G>A	NP_001123910.1:p.Thr963=	NC_000009.11:g.131351105G>A	-	C3150731 613477 Early infantile epileptic encephalopathy 5; CN221809 not provided; CN169374 not specified
NM_001130438.2(SPTAN1):c.3193C>T (p.Arg1065Cys)	6709	SPTAN1	Uncertain significance	587784436	RCV000147622;	N	MedGen:C3150731,OMIM:613477	9	131355299	131355299	NM_001130438.2:c.3193C>T	NP_001123910.1:p.Arg1065Cys	NC_000009.11:g.131355299C>T	-	C3150731 613477 Early infantile epileptic encephalopathy 5
NM_001130438.2(SPTAN1):c.3415-9G>T	6709	SPTAN1	Uncertain significance	199802986	RCV000147624;	N	MedGen:C3150731,OMIM:613477	9	131360670	131360670	NM_001130438.2:c.3415-9G>T		NC_000009.11:g.131360670G>T	-	C3150731 613477 Early infantile epileptic encephalopathy 5
NM_001130438.2(SPTAN1):c.3899T>C (p.Ile1300Thr)	6709	SPTAN1	Uncertain significance	1048236	RCV000147629;	N	MedGen:C3150731,OMIM:613477	9	131367609	131367609	NM_001130438.2:c.3899T>C	NP_001123910.1:p.Ile1300Thr	NC_000009.11:g.131367609T>C	-	C3150731 613477 Early infantile epileptic encephalopathy 5
NM_001130438.2(SPTAN1):c.4199A>T (p.Gln1400Leu)	6709	SPTAN1	Likely benign;Uncertain significance	143108250	RCV000147630; RCV000189508;	N	MedGen:C3150731,OMIM:613477; MedGen:CN169374	9	131370183	131370183	NM_001130438.2:c.4199A>T	NP_001123910.1:p.Gln1400Leu	NC_000009.11:g.131370183A>T	-	C3150731 613477 Early infantile epileptic encephalopathy 5; CN169374 not specified
NM_001130438.2(SPTAN1):c.4410C>T (p.Thr1470=)	6709	SPTAN1	Benign;Uncertain significance	2228951	RCV000147631; RCV000128251;	N	MedGen:C3150731,OMIM:613477; MedGen:CN169374	9	131370474	131370474	NM_001130438.2:c.4410C>T	NP_001123910.1:p.Thr1470=	NC_000009.11:g.131370474C>T	-	C3150731 613477 Early infantile epileptic encephalopathy 5; CN169374 not specified
NM_001130438.2(SPTAN1):c.5023T>A (p.Phe1675Ile)	6709	SPTAN1	Uncertain significance	1129924	RCV000147633;	N	MedGen:C3150731,OMIM:613477	9	131374505	131374505	NM_001130438.2:c.5023T>A	NP_001123910.1:p.Phe1675Ile	NC_000009.11:g.131374505T>A	-	C3150731 613477 Early infantile epileptic encephalopathy 5
NM_001130438.2(SPTAN1):c.5149-10C>T	6709	SPTAN1	Benign;Uncertain significance	587784437	RCV000147634; RCV000189467;	N	MedGen:C3150731,OMIM:613477; MedGen:CN169374	9	131377901	131377901	NM_001130438.2:c.5149-10C>T		NC_000009.11:g.131377901C>T	-	C3150731 613477 Early infantile epileptic encephalopathy 5; CN169374 not specified
NM_001130438.2(SPTAN1):c.5478+12G>A	6709	SPTAN1	Benign;Uncertain significance	41275900	RCV000147638; RCV000128261;	N	MedGen:C3150731,OMIM:613477; MedGen:CN169374	9	131380051	131380051	NM_001130438.2:c.5478+12G>A		NC_000009.11:g.131380051G>A	-	C3150731 613477 Early infantile epileptic encephalopathy 5; CN169374 not specified
NM_001130438.2(SPTAN1):c.5552C>T (p.Ala1851Val)	6709	SPTAN1	Benign;Uncertain significance	11543347	RCV000147641; RCV000128263;	N	MedGen:C3150731,OMIM:613477; MedGen:CN169374	9	131380339	131380339	NM_001130438.2:c.5552C>T	NP_001123910.1:p.Ala1851Val	NC_000009.11:g.131380339C>T	-	C3150731 613477 Early infantile epileptic encephalopathy 5; CN169374 not specified
NM_001130438.2(SPTAN1):c.5981A>G (p.Glu1994Gly)	6709	SPTAN1	Uncertain significance	11543346	RCV000147643;	N	MedGen:C3150731,OMIM:613477	9	131386755	131386755	NM_001130438.2:c.5981A>G	NP_001123910.1:p.Glu1994Gly	NC_000009.11:g.131386755A>G	-	C3150731 613477 Early infantile epileptic encephalopathy 5
NM_001130438.2(SPTAN1):c.6498C>T (p.Arg2166=)	6709	SPTAN1	Benign;Uncertain significance	72758823	RCV000147647; RCV000128270;	N	MedGen:C3150731,OMIM:613477; MedGen:CN169374	9	131388888	131388888	NM_001130438.2:c.6498C>T	NP_001123910.1:p.Arg2166=	NC_000009.11:g.131388888C>A,NC_000009.11:g.131388888C>T	-	C3150731 613477 Early infantile epileptic encephalopathy 5; CN169374 not specified
NM_001130438.2(SPTAN1):c.6498C>A (p.Arg2166=)	6709	SPTAN1	Uncertain significance	72758823	RCV000147646;	N	MedGen:C3150731,OMIM:613477	9	131388888	131388888	NM_001130438.2:c.6498C>A	NP_001123910.1:p.Arg2166=	NC_000009.11:g.131388888C>A,NC_000009.11:g.131388888C>T	-	C3150731 613477 Early infantile epileptic encephalopathy 5
NM_001130438.2(SPTAN1):c.6605_6607delAGC (p.Gln2202del)	6709	SPTAN1	Pathogenic	398122865	RCV000029155;	N	MedGen:C3150731,OMIM:613477	9	131389693	131389695	NM_001130438.2:c.6605_6607delAGC	NP_001123910.1:p.Gln2202del	NC_000009.11:g.131389693_131389695delAGC	OMIM Allelic Variant:182810.0003	C3150731 613477 Early infantile epileptic encephalopathy 5
NM_001130438.2(SPTAN1):c.6619_6621delGAG (p.Glu2207del)	6709	SPTAN1	Pathogenic	587784438	RCV000147650; RCV000189543;	N	MedGen:C3150731,OMIM:613477; MedGen:CN221809	9	131389707	131389709	NM_001130438.2:c.6619_6621delGAG	NP_001123910.1:p.Glu2207del	NC_000009.11:g.131389707_131389709delGAG	-	C3150731 613477 Early infantile epileptic encephalopathy 5; CN221809 not provided
NM_001130438.2(SPTAN1):c.6763-7C>T	6709	SPTAN1	Uncertain significance	587784439	RCV000147654;	N	MedGen:C3150731,OMIM:613477	9	131394399	131394399	NM_001130438.2:c.6763-7C>T		NC_000009.11:g.131394399C>T	-	C3150731 613477 Early infantile epileptic encephalopathy 5
NM_001130438.2(SPTAN1):c.6908_6916dupACCAGCTGG (p.Leu2305_Gly2306insAspGlnLeu)	6709	SPTAN1	Pathogenic	587784440	RCV000147656; RCV000189556;	N	MedGen:C3150731,OMIM:613477; MedGen:CN221809	9	131394551	131394559	NM_001130438.2:c.6908_6916dupACCAGCTGG	NP_001123910.1:p.Leu2305_Gly2306insAspGlnLeu	NC_000009.11:g.131394551_131394559dupACCAGCTGG	-	C3150731 613477 Early infantile epileptic encephalopathy 5; CN221809 not provided
NM_001130438.2(SPTAN1):c.7161-9C>T	6709	SPTAN1	Benign;Uncertain significance	187613754	RCV000147658; RCV000128277;	N	MedGen:C3150731,OMIM:613477; MedGen:CN169374	9	131395078	131395078	NM_001130438.2:c.7161-9C>T		NC_000009.11:g.131395078C>T	-	C3150731 613477 Early infantile epileptic encephalopathy 5; CN169374 not specified
NM_001130438.2(SPTAN1):c.7309-15T>C	6709	SPTAN1	Uncertain significance	370705867	RCV000147659;	N	MedGen:C3150731,OMIM:613477	9	131395473	131395473	NM_001130438.2:c.7309-15T>C		NC_000009.11:g.131395473T>C	-	C3150731 613477 Early infantile epileptic encephalopathy 5