Disease browser and phenotype portal

About
MSeqDR-LSDB
Tools
- Quick-Mitome for WES
- Quick-Mitome
- Quick-Mitome Report
- mtDNA Tool:
- mvTool
- Phy-Mer
- MToolBox
- mvTool for Haplogroup
- mvTool with HmtDB
- MitoMaster
- MitoTIP tRNA Scoring
- MSeq-OpenCGA
- Variant Tool:
- VariantOneStop
- HBCR Exome (Retired)
- POLG Patho. Server
- Data - Awsomics GeEx
- Expert Panel
- Panel Tool:
- Gene Panel Examiner
- Transgenomic_NuclearMitome
- Pedigree Maker
- json2table
Phenome-Disease
Collaboration
- Genesis (GEM.App)
- LeighMap
- Expert Panel
- Collaboration Zone
Submission
- Submit_Interpret_Variant
- Instructions

Hello! Guest! Please Login or Register! Clinician Mode

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

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

Disease Browser
Parent Node: Seizures, Febrile (D003294)
..Starting node ..Febrile Convulsions, Familial, 4 (C565788)
Child Nodes:
Sister Nodes:
..Febrile Convulsions, Familial, 1 (C565162)
..Febrile Convulsions, Familial, 10 (C567218)
..Febrile Convulsions, Familial, 2 (C566541)
..Febrile Convulsions, Familial, 3a (C567820)
..Febrile Convulsions, Familial, 3b (C567821)
..Febrile Convulsions, Familial, 4 (C565788)
..Febrile Convulsions, Familial, 5 (C563762)
..Febrile Convulsions, Familial, 6 (C563764)
..Febrile Convulsions, Familial, 7 (C566929)
..Febrile Convulsions, Familial, 8 (C566975)
..Febrile Convulsions, Familial, 9 (C566901)
..Febrile Seizures Associated with Afebrile Seizures (C565813)
..Generalized Epilepsy with Febrile Seizures Plus (C565808)
..Generalized Epilepsy With Febrile Seizures Plus, 7 (C567827)
..Generalized Epilepsy With Febrile Seizures Plus, Type 1 (C565809)
..Generalized Epilepsy With Febrile Seizures Plus, Type 2 (C565810)
..Generalized Epilepsy With Febrile Seizures Plus, Type 3 (C565811)
..Generalized Epilepsy With Febrile Seizures Plus, Type 4 (C565227)
..Generalized Epilepsy With Febrile Seizures Plus, Type 5 (C565812)
..Generalized Epilepsy With Febrile Seizures Plus, Type 6 (C567371)
..GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 8 (OMIM:613828)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

4214

Name:

Febrile Convulsions, Familial, 4

Definition:

Alternative IDs:

OMIM:604352

ParentIDs:

MESH:D003294

TreeNumbers:

C10.228.140.490.650/C565788

Synonyms:

Convulsions, Familial Febrile, 4 |FEB4 |FEBRILE SEIZURES, FAMILIAL, 4 |Seizures, Familial Febrile, 4

Slim Mappings:

Nervous system disease

Reference:

MedGen: C565788
MeSH: C565788
OMIM: 604352;

Genes: ADGRV1;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0011463	Childhood onset
3	HP:0003593	Infantile onset
4	HP:0010819	Atonic seizure
5	HP:0002069	Bilateral tonic-clonic seizure
6	HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)
7	HP:0010818	Generalized tonic seizure
8	HP:0001425	Heterogeneous

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_032119.3(ADGRV1):c.1855T>G (p.Leu619Val)	84059	ADGRV1	Likely benign;Uncertain significance	202064612	RCV000146074; RCV000155099;	N	MedGen:C1858493,OMIM:604352; MedGen:CN169374	5	89930946	89930946	NM_032119.3:c.1855T>G	NP_115495.3:p.Leu619Val	NC_000005.9:g.89930946T>G	-	C1858493 604352 Febrile seizures, familial, 4; CN169374 not specified
NM_032119.3(ADGRV1):c.2456G>A (p.Ser819Asn)	84059	ADGRV1	Uncertain significance	182395524	RCV000146075; RCV000174607;	N	MedGen:C1858493,OMIM:604352; MedGen:CN221809	5	89938761	89938761	NM_032119.3:c.2456G>A	NP_115495.3:p.Ser819Asn	NC_000005.9:g.89938761G>A	-	C1858493 604352 Febrile seizures, familial, 4; CN221809 not provided
NM_032119.3(ADGRV1):c.3151G>T (p.Asp1051Tyr)	84059	ADGRV1	Likely benign;Uncertain significance	145556097	RCV000146076; RCV000039567;	N	MedGen:C1858493,OMIM:604352; MedGen:CN169374	5	89943443	89943443	NM_032119.3:c.3151G>T	NP_115495.3:p.Asp1051Tyr	NC_000005.9:g.89943443G>T	-	C1858493 604352 Febrile seizures, familial, 4; CN169374 not specified
NM_032119.3(ADGRV1):c.3191A>C (p.Glu1064Ala)	84059	ADGRV1	Likely benign;Uncertain significance	190922596	RCV000146077; RCV000039568;	N	MedGen:C1858493,OMIM:604352; MedGen:CN169374	5	89943483	89943483	NM_032119.3:c.3191A>C	NP_115495.3:p.Glu1064Ala	NC_000005.9:g.89943483A>C	-	C1858493 604352 Febrile seizures, familial, 4; CN169374 not specified
NM_032119.3(ADGRV1):c.6133G>A (p.Gly2045Arg)	84059	ADGRV1	Benign;Uncertain significance	41308846	RCV000146082; RCV000039604;	N	MedGen:C1858493,OMIM:604352; MedGen:CN169374	5	89979871	89979871	NM_032119.3:c.6133G>A	NP_115495.3:p.Gly2045Arg	NC_000005.9:g.89979871G>A	-	C1858493 604352 Febrile seizures, familial, 4; CN169374 not specified
NM_032119.3(ADGRV1):c.8495C>A (p.Ser2832Ter)	84059	ADGRV1	Pathogenic	121909761	RCV000007199;	N	MedGen:C1858493,OMIM:604352	5	90001325	90001325	NM_032119.3:c.8495C>A	NP_115495.3:p.Ser2832Ter	NC_000005.9:g.90001325C>A	OMIM Allelic Variant:602851.0001	C1858493 604352 Febrile seizures, familial, 4
NM_032119.3(ADGRV1):c.11338C>T (p.Arg3780Cys)	84059	ADGRV1	Uncertain significance	201742794	RCV000146067;	N	MedGen:C1858493,OMIM:604352	5	90049607	90049607	NM_032119.3:c.11338C>T	NP_115495.3:p.Arg3780Cys	NC_000005.9:g.90049607C>T	-	C1858493 604352 Febrile seizures, familial, 4
NM_032119.3(ADGRV1):c.12032G>T (p.Gly4011Val)	84059	ADGRV1	Uncertain significance	369044000	RCV000146069;	N	MedGen:C1858493,OMIM:604352	5	90055317	90055317	NM_032119.3:c.12032G>T	NP_115495.3:p.Gly4011Val	NC_000005.9:g.90055317G>T	-	C1858493 604352 Febrile seizures, familial, 4
NM_032119.3(ADGRV1):c.18273A>G (p.Ala6091=)	84059	ADGRV1	Benign;Uncertain significance	137853918	RCV000146072; RCV000086994; RCV000155120;	N	MedGen:C1858493,OMIM:604352; MedGen:CN169374; MedGen:CN221809	5	90368384	90368384	NM_032119.3:c.18273A>G	NP_115495.3:p.Ala6091=	NC_000005.9:g.90368384A>G	-	C1858493 604352 Febrile seizures, familial, 4; CN221809 not provided; CN169374 not specified