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

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

Disease Browser
Parent Node: Epilepsy (D004827)
Parent Node: Genetic Diseases, X-Linked (D040181)
Parent Node: Learning Disorders (D007859)
Parent Node: Mental Disorders (D001523)
..Starting node ..Epilepsy, X-Linked, with Variable Learning Disabilities and Behavior Disorders (C564505)
Child Nodes:
Sister Nodes:
..Adjustment Disorders (D000275)
..Anxiety Disorders (D001008) 15
..Chromosome 18 Pericentric Inversion (C563734)
..Delirium, Dementia, Amnestic, Cognitive Disorders (D019965) 100
..Dissociative Disorders (D004213) 1
..Eating Disorders (D001068) 6
..Epilepsy, X-Linked, with Variable Learning Disabilities and Behavior Disorders (C564505)
..Factitious Disorders (D005162) 3
..Fragile Site 16p12 (C565001)
..Hydrocephalus, Skeletal Anomalies, and Mental Disturbance (C563413)
..Impulse Control Disorders (D007174) 4
..Mental Disorders Diagnosed in Childhood (D019952) 693
..Mood Disorders (D019964) 23
..Myoclonic Epilepsy, Congenital Deafness, Macular Dystrophy, and Psychiatric Disorders (C565786)
..Neurotic Disorders (D009497)
..Personality Disorders (D010554) 12
..Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Mental Retardation, And Distinctive Facies (C566918)
..Schizophrenia and Disorders with Psychotic Features (D019967) 15
..Sexual and Gender Disorders (D019968) 123
..Sleep Disorders (D012893) 41
..Somatoform Disorders (D013001) 4
..Spongiform Encephalopathy with Neuropsychiatric Features (C564678)
..Substance-Related Disorders (D019966) 38
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

3900

Name:

Epilepsy, X-Linked, with Variable Learning Disabilities and Behavior Disorders

Definition:

Alternative IDs:

OMIM:300491

ParentIDs:

MESH:D001523|MESH:D004827|MESH:D007859|MESH:D040181

TreeNumbers:

C10.228.140.490/C564505 |C10.597.606.150.550/C564505 |C16.320.322/C564505 |C23.888.592.604.150.550/C564505 |F03.550.350.500/C564505 |F03.550.450/C564505 |F03/C564505

Synonyms:

Slim Mappings:

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

Reference:

MedGen: C564505
MeSH: C564505
OMIM: 300491;

Genes: SYN1;

Phenotypes

1	HP:0001423	X-linked dominant inheritance
2	HP:0001419	X-linked recessive inheritance
3	HP:0007359	Focal-onset seizure
4	HP:0000718	Aggressive behavior
5	HP:0000729	Autistic behavior
6	HP:0000256	Macrocephaly	HP:0040283
7	HP:0001328	Specific learning disability

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_133499.2(SYN1):c.1699A>G (p.Thr567Ala)	6853	SYN1	Benign;Pathogenic;Uncertain significance	200533370	RCV000034817; RCV000174415;	N	MedGen:C1845343,OMIM:300491,ORPHA:85294; MedGen:CN169374	X	47433684	47433684	NM_133499.2:c.1699A>G	NP_598006.1:p.Thr567Ala	NC_000023.10:g.47433684T>C	OMIM Allelic Variant:313440.0004	C1845343 300491 Epilepsy, X-linked, with variable learning disabilities and behavior disorders; CN169374 not specified
NM_006950.3(SYN1):c.1663C>T (p.Gln555Ter)	6853	SYN1	Pathogenic	397514679	RCV000034815;	N	MedGen:C1845343,OMIM:300491,ORPHA:85294	X	47433720	47433720	NM_006950.3:c.1663C>T	NP_008881.2:p.Gln555Ter	NC_000023.10:g.47433720G>A	OMIM Allelic Variant:313440.0002	C1845343 300491 Epilepsy, X-linked, with variable learning disabilities and behavior disorders
NM_006950.3(SYN1):c.1648G>A (p.Ala550Thr)	6853	SYN1	Pathogenic	397514680	RCV000034816;	N	MedGen:C1845343,OMIM:300491,ORPHA:85294	X	47433735	47433735	NM_006950.3:c.1648G>A	NP_008881.2:p.Ala550Thr	NC_000023.10:g.47433735C>T	OMIM Allelic Variant:313440.0003	C1845343 300491 Epilepsy, X-linked, with variable learning disabilities and behavior disorders
NM_006950.3(SYN1):c.1067G>A (p.Trp356Ter)	6853	SYN1	Pathogenic	137852560	RCV000010542;	N	MedGen:C1845343,OMIM:300491,ORPHA:85294	X	47435621	47435621	NM_006950.3:c.1067G>A	NP_008881.2:p.Trp356Ter	NC_000023.10:g.47435621C>T	OMIM Allelic Variant:313440.0001	C1845343 300491 Epilepsy, X-linked, with variable learning disabilities and behavior disorders