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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: Epilepsy (D004827)
..Starting node ..Landau-Kleffner Syndrome (D018887)
Child Nodes:
Sister Nodes:
..AICAR Transformylase Inosine Monophosphate Cyclohydrolase Deficiency (C563876)
..Alopecia epilepsy oligophrenia syndrome of Moynahan (C537052)
..Alopecia, epilepsy, pyorrhea, mental subnormality (C537057)
..Amish Infantile Epilepsy Syndrome (C563799)
..Arthrogryposis epileptic seizures migrational brain disorder (C537442)
..Battaglia Neri syndrome (C537662)
..BETA-AMINO ACIDS, RENAL TRANSPORT OF (OMIM:109660)
..Borjeson-Forssman-Lehmann syndrome (C536575)
..Boudhina Yedes Khiari syndrome (C537939)
..CHROMOSOME 7q11.23 DELETION SYNDROME, DISTAL, 1.2-MB (OMIM:613729)
..Coffin syndrome 1 (C536435)
..Developmental Delay, Epilepsy, and Neonatal Diabetes (C565253)
..Epilepsies, Myoclonic (D004831) 26
..Epilepsies, Partial (D004828) 26
..Epilepsy occipital calcifications (C535496)
..Epilepsy telangiectasia (C535497)
..Epilepsy, Benign Neonatal (D020936) 13
..Epilepsy, Benign Neonatal, 1, And/Or Myokymia (C567743)
..Epilepsy, Female-Restricted, with Mental Retardation (C564715)
..Epilepsy, Generalized (D004829) 27
..EPILEPSY, HOT WATER, 1 (OMIM:613339)
..EPILEPSY, HOT WATER, 2 (OMIM:613340)
..Epilepsy, Photogenic, with Spastic Diplegia and Mental Retardation (C565587)
..Epilepsy, Post-Traumatic (D004834)
..Epilepsy, Reflex (D020195)
..Epilepsy, X-Linked, with Variable Learning Disabilities and Behavior Disorders (C564505)
..Fryns-Aftimos Syndrome (C565258)
..Gurrieri Sammito Bellussi syndrome (C537625)
..HETEROTOPIA, PERIVENTRICULAR, X-LINKED DOMINANT (OMIM:300049)
..Hyperekplexia and Epilepsy (C564474)
..Kifafa seizure disorder (C537708)
..Kohlschutter Tonz syndrome (C537213)
..Kuzniecky syndrome (C538091)
..Landau-Kleffner Syndrome (D018887)
..Lennox Gastaut Syndrome (D065768) 1
..MEHMO syndrome (C537451)
..MENTAL RETARDATION, AUTOSOMAL DOMINANT 20 (OMIM:613443)
..Mental Retardation, Microcephaly, Epilepsy, And Coarse Face (C563342)
..Mental Retardation, X-Linked, Syndromic, Christianson Type (C567484)
..Mental Retardation, X-Linked, with Epilepsy (C564516)
..Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy (C567020)
..Pyridoxine-dependent epilepsy (C536254)
..Ramon Syndrome (C535285)
..Retinal Degeneration and Epilepsy (C564847)
..Rud Syndrome (C535878)
..Sandhaus Ben-Ami syndrome (C537233)
..Seizures (D012640) 40
..Seizures, Febrile (D003294) 21
..Spinocerebellar Ataxia with Epilepsy (C564395)
..Status Epilepticus (D013226) 1
..Wittwer syndrome (C536737)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

6190

Name:

Landau-Kleffner Syndrome

Definition:

A syndrome characterized by the onset of isolated language dysfunction in otherwise normal children (age of onset 4-7 years) and epileptiform discharges on ELECTROENCEPHALOGRAPHY. Seizures, including atypical absence (EPILEPSY, ABSENCE), complex partial (EPILEPSY, COMPLEX PARTIAL), and other types may occur. The electroencephalographic abnormalities and seizures tend to resolve by puberty. The language disorder may also resolve although some individuals are left with severe language dysfunction, including APHASIA and auditory AGNOSIA. (From Menkes, Textbook of Child Neurology, 5th ed, pp749-50; J Child Neurol 1997 Nov;12(8):489-495)

Alternative IDs:

ParentIDs:

MESH:D004827

TreeNumbers:

C10.228.140.490.535

Synonyms:

Slim Mappings:

Nervous system disease

Reference:

MedGen: D018887
MeSH: D018887
OMIM: 245570;

Genes: GRIN2A;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0010524	Agnosia
3	HP:0002381	Aphasia
4	HP:0007018	Attention deficit hyperactivity disorder
5	HP:0000708	Behavioral abnormality
6	HP:0000750	Delayed speech and language development
7	HP:0002357	Dysphasia
8	HP:0012557	EEG with centrotemporal focal spike waves
9	HP:0001263	Global developmental delay	HP:0040283
10	HP:0003829	Incomplete penetrance
11	HP:0001249	Intellectual disability	HP:0040283
12	HP:0001250	Seizure
13	HP:0011098	Speech apraxia
14	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_000833.4(GRIN2A):c.4375A>G (p.Ser1459Gly)	2903	GRIN2A	Likely pathogenic	869312681	RCV000209878;	N	MedGen:C1832814,OMIM:245570	16	9857026	9857026	NM_000833.4:c.4375A>G	NP_000824.1:p.Ser1459Gly	NC_000016.9:g.9857026T>C	-	C1832814 245570 Focal epilepsy with speech disorder with or without mental retardation
NM_000833.4(GRIN2A):c.2829C>G (p.Tyr943Ter)	2903	GRIN2A	Pathogenic	397518467	RCV000074388;	N	MedGen:C1832814,OMIM:245570	16	9858572	9858572	NM_000833.4:c.2829C>G	NP_000824.1:p.Tyr943Ter	NC_000016.9:g.9858572G>C	OMIM Allelic Variant:138253.0012	C1832814 245570 Focal epilepsy with speech disorder with or without mental retardation
NM_000833.4(GRIN2A):c.2041C>T (p.Arg681Ter)	2903	GRIN2A	Pathogenic	397518472	RCV000074393;	N	MedGen:C1832814,OMIM:245570	16	9916248	9916248	NM_000833.4:c.2041C>T	NP_000824.1:p.Arg681Ter	NC_000016.9:g.9916248G>A	OMIM Allelic Variant:138253.0011	C1832814 245570 Focal epilepsy with speech disorder with or without mental retardation
NM_000833.4(GRIN2A):c.1954T>G (p.Phe652Val)	2903	GRIN2A	Pathogenic	397518471	RCV000074392;	N	MedGen:C1832814,OMIM:245570	16	9923333	9923333	NM_000833.4:c.1954T>G	NP_000824.1:p.Phe652Val	NC_000016.9:g.9923333A>C	OMIM Allelic Variant:138253.0010	C1832814 245570 Focal epilepsy with speech disorder with or without mental retardation
NM_000833.4(GRIN2A):c.1945C>G (p.Leu649Val)	2903	GRIN2A	Pathogenic	397514557	RCV000032866;	N	MedGen:C1832814,OMIM:245570	16	9923342	9923342	NM_000833.4:c.1945C>G	NP_000824.1:p.Leu649Val	NC_000016.9:g.9923342G>C	OMIM Allelic Variant:138253.0003	C1832814 245570 Focal epilepsy with speech disorder with or without mental retardation
NM_000833.4(GRIN2A):c.1845C>A (p.Asn615Lys)	2903	GRIN2A	Pathogenic	397518447	RCV000022585;	N	MedGen:C1832814,OMIM:245570	16	9923442	9923442	NM_000833.4:c.1845C>A	NP_000824.1:p.Asn615Lys	NC_000016.9:g.9923442G>T	OMIM Allelic Variant:138253.0002	C1832814 245570 Focal epilepsy with speech disorder with or without mental retardation
NM_000833.4(GRIN2A):c.1655C>G (p.Pro552Arg)	2903	GRIN2A	Pathogenic	397518450	RCV000032867;	N	MedGen:C1832814,OMIM:245570	16	9928084	9928084	NM_000833.4:c.1655C>G	NP_000824.1:p.Pro552Arg	NC_000016.9:g.9928084G>C	OMIM Allelic Variant:138253.0004	C1832814 245570 Focal epilepsy with speech disorder with or without mental retardation
NM_000833.4(GRIN2A):c.1592C>T (p.Thr531Met)	2903	GRIN2A	Pathogenic	397518468	RCV000074389;	N	MedGen:C1832814,OMIM:245570	16	9934563	9934563	NM_000833.4:c.1592C>T	NP_000824.1:p.Thr531Met	NC_000016.9:g.9934563G>A	OMIM Allelic Variant:138253.0007	C1832814 245570 Focal epilepsy with speech disorder with or without mental retardation
NM_000833.4(GRIN2A):c.1553G>A (p.Arg518His)	2903	GRIN2A	Pathogenic	397518470	RCV000074391;	N	MedGen:C1832814,OMIM:245570	16	9934602	9934602	NM_000833.4:c.1553G>A	NP_000824.1:p.Arg518His	NC_000016.9:g.9934602C>T	OMIM Allelic Variant:138253.0009	C1832814 245570 Focal epilepsy with speech disorder with or without mental retardation
NM_000833.4(GRIN2A):c.1123-2A>G	2903	GRIN2A	Pathogenic	397518469	RCV000074390;	N	MedGen:C1832814,OMIM:245570	16	9943820	9943820	NM_000833.4:c.1123-2A>G		NC_000016.9:g.9943820T>C	OMIM Allelic Variant:138253.0008	C1832814 245570 Focal epilepsy with speech disorder with or without mental retardation
NM_000833.4(GRIN2A):c.1007+1G>A	2903	GRIN2A	Pathogenic	397518465	RCV000074386;	N	MedGen:C1832814,OMIM:245570	16	10031815	10031815	NM_000833.4:c.1007+1G>A		NC_000016.9:g.10031815C>T	OMIM Allelic Variant:138253.0005	C1832814 245570 Focal epilepsy with speech disorder with or without mental retardation
NM_000833.4(GRIN2A):c.652C>T (p.Gln218Ter)	2903	GRIN2A	Pathogenic	387906637	RCV000022584;	N	MedGen:C1832814,OMIM:245570	16	10032171	10032171	NM_000833.4:c.652C>T	NP_000824.1:p.Gln218Ter	NC_000016.9:g.10032171G>A	OMIM Allelic Variant:138253.0001	C1832814 245570 Focal epilepsy with speech disorder with or without mental retardation
NM_000833.4(GRIN2A):c.314A>G (p.Asp105Gly)	2903	GRIN2A	Likely pathogenic	797045015	RCV000190515;	N	MedGen:C1832814,OMIM:245570	16	10273955	10273955	NM_000833.4:c.314A>G	NP_000824.1:p.Asp105Gly	NC_000016.9:g.10273955T>C	-	C1832814 245570 Focal epilepsy with speech disorder with or without mental retardation
NM_000833.4(GRIN2A):c.2T>C (p.Met1Thr)	2903	GRIN2A	Pathogenic	397518466	RCV000074387;	N	MedGen:C1832814,OMIM:245570	16	10274267	10274267	NM_000833.4:c.2T>C	NP_000824.1:p.Met1Thr	NC_000016.9:g.10274267A>G	OMIM Allelic Variant:138253.0006	C1832814 245570 Focal epilepsy with speech disorder with or without mental retardation