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: Abnormalities, Multiple (D000015)
Parent Node: Cleft Lip (D002971)
Parent Node: Cleft Palate (D002972)
Parent Node: Cysts (D003560)
..Starting node ..Van der Woude syndrome (C536528)
Child Nodes:
........VAN DER WOUDE SYNDROME 1, MODIFIER OF (OMIM:604547)
Sister Nodes:
..Aplasia Cutis Congenita, Congenital Heart Defect, And Frontonasal Cysts (C566997)
..Arachnoid Cysts (D016080) 6
..Bone Cysts (D001845) 11
..Branchioma (D001935)
..Breast Cyst (D047688) 1
..Bronchogenic Cyst (D001994)
..Chalazion (D017043)
..Choledochal Cyst (D015529) 2
..Colloid Cysts (D056364) 1
..Cystic medial necrosis of aorta (C536230)
..Dermoid Cyst (D003884) 5
..Ectodermal dysplasia adrenal cyst (C538015)
..Epidermal Cyst (D004814) 2
..Esophageal Cyst (D004934)
..Follicular Cyst (D005497) 2
..Ganglion Cysts (D045888)
..Leukoencephalopathy, Cystic, Without Megalencephaly (C567845)
..Lymphocele (D008210) 1
..Mediastinal Cyst (D008476)
..Megalencephalic leukoencephalopathy with subcortical cysts (C536141)
..Mesenteric Cyst (D008639)
..Microphthalmia associated with colobomatous cyst (C537463)
..Mucocele (D009078)
..Ovarian Cysts (D010048) 5
..Pancreatic Cyst (D010181) 2
..Parovarian Cyst (D010310)
..Pilonidal Sinus (D010864)
..Polycystic liver disease (C536330)
..Ranula (D011900)
..Sener syndrome (C537579)
..Spermatocele (D013088)
..Synovial Cyst (D013581) 1
..Tarlov Cysts (D052958)
..Thyroglossal Cyst (D013955) 1
..Urachal Cyst (D014496) 1
..Van der Woude syndrome (C536528) 1
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

11515

Name:

Van der Woude syndrome

Definition:

Alternative IDs:

OMIM:119300

ParentIDs:

MESH:D000015|MESH:D002971|MESH:D002972|MESH:D003560

TreeNumbers:

C04.182/C536528 |C05.500.460.185/C536528 |C05.660.207.540.460.185/C536528 |C07.320.440.185/C536528 |C07.465.409.225/C536528 |C07.465.525.164/C536528 |C07.465.525.185/C536528 |C07.650.500.460.185/C536528 |C07.650.525.164/C536528 |C07.650.525.185/C536528 |C16.131.07

Synonyms:

Slim Mappings:

Cancer|Congenital abnormality|Mouth disease|Musculoskeletal disease|Pathology (anatomical condition)

Reference:

MedGen: C536528
MeSH: C536528
OMIM: 119300;

Genes: IRF6;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0000193	Bifid uvula
3	HP:0000175	Cleft palate
4	HP:0000204	Cleft upper lip
5	HP:0000668	Hypodontia
6	HP:0000196	Lower lip pit

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_006147.3(IRF6):c.1210G>A (p.Glu404Lys)	3664	IRF6	Pathogenic	769068305	RCV000201948;	N	MedGen:C0175697,OMIM:119300,ORPHA:888,SNOMED CT:79261008	1	209961959	209961959	NM_006147.3:c.1210G>A	NP_006138.1:p.Glu404Lys	NC_000001.10:g.209961959C>T	-	C0175697 119300 Van der Woude syndrome
NM_006147.3(IRF6):c.1199G>A (p.Arg400Gln)	3664	IRF6	Pathogenic	200166664	RCV000087748;	N	MedGen:C0175697,OMIM:119300,ORPHA:888,SNOMED CT:79261008	1	209961970	209961970	NM_006147.3:c.1199G>A	NP_006138.1:p.Arg400Gln	NC_000001.10:g.209961970C>T	OMIM Allelic Variant:607199.0018	C0175697 119300 Van der Woude syndrome
NM_006147.3(IRF6):c.1198C>T (p.Arg400Trp)	3664	IRF6	Pathogenic	28942095	RCV000003588;	N	MedGen:C0175697,OMIM:119300,ORPHA:888,SNOMED CT:79261008	1	209961971	209961971	NM_006147.3:c.1198C>T	NP_006138.1:p.Arg400Trp	NC_000001.10:g.209961971G>A	OMIM Allelic Variant:607199.0009	C0175697 119300 Van der Woude syndrome
NM_006147.3(IRF6):c.1186C>T (p.Pro396Ser)	3664	IRF6	Pathogenic	121434230	RCV000003591;	N	MedGen:C0175697,OMIM:119300,ORPHA:888,SNOMED CT:79261008	1	209961983	209961983	NM_006147.3:c.1186C>T	NP_006138.1:p.Pro396Ser	NC_000001.10:g.209961983G>A	OMIM Allelic Variant:607199.0012	C0175697 119300 Van der Woude syndrome
NM_006147.3(IRF6):c.1137G>A (p.Trp379Ter)	3664	IRF6	Pathogenic	121434228	RCV000003587;	N	MedGen:C0175697,OMIM:119300,ORPHA:888,SNOMED CT:79261008	1	209963054	209963054	NM_006147.3:c.1137G>A	NP_006138.1:p.Trp379Ter	NC_000001.10:g.209963054C>T	OMIM Allelic Variant:607199.0008	C0175697 119300 Van der Woude syndrome
NM_006147.3(IRF6):c.1016G>T (p.Arg339Ile)	3664	IRF6	Pathogenic	121434231	RCV000003592; RCV000023627;	N	MedGen:C0175697,OMIM:119300,ORPHA:888,SNOMED CT:79261008; MedGen:C0265259,OMIM:119500,ORPHA:294963,SNOMED CT:66783006	1	209963884	209963884	NM_006147.3:c.1016G>T	NP_006138.1:p.Arg339Ile	NC_000001.10:g.209963884C>A	OMIM Allelic Variant:607199.0013	C0265259 119500 Popliteal pterygium syndrome; C0175697 119300 Van der Woude syndrome
NM_006147.3(IRF6):c.870_888del19insA (p.Phe290_Asp296delinsLeu)	3664	IRF6	Pathogenic	587776569	RCV000003581;	N	MedGen:C0175697,OMIM:119300,ORPHA:888,SNOMED CT:79261008	1	209964012	209964030	NM_006147.3:c.870_888del19insA	NP_006138.1:p.Phe290_Asp296delinsLeu		OMIM Allelic Variant:607199.0002	C0175697 119300 Van der Woude syndrome
NM_006147.3(IRF6):c.274G>T (p.Glu92Ter)	3664	IRF6	Pathogenic	121434224	RCV000003580;	N	MedGen:C0175697,OMIM:119300,ORPHA:888,SNOMED CT:79261008	1	209969798	209969798	NM_006147.3:c.274G>T	NP_006138.1:p.Glu92Ter	NC_000001.10:g.209969798C>A	OMIM Allelic Variant:607199.0001	C0175697 119300 Van der Woude syndrome
NM_006147.3(IRF6):c.145C>T (p.Gln49Ter)	3664	IRF6	Pathogenic	397515434	RCV000033164;	N	MedGen:C0175697,OMIM:119300,ORPHA:888,SNOMED CT:79261008	1	209974614	209974614	NM_006147.3:c.145C>T	NP_006138.1:p.Gln49Ter	NC_000001.10:g.209974614G>A	OMIM Allelic Variant:607199.0017	C0175697 119300 Van der Woude syndrome
NM_006147.3(IRF6):c.134G>A (p.Arg45Gln)	3664	IRF6	Pathogenic	121434229	RCV000003590;	N	MedGen:C0175697,OMIM:119300,ORPHA:888,SNOMED CT:79261008	1	209974625	209974625	NM_006147.3:c.134G>A	NP_006138.1:p.Arg45Gln	NC_000001.10:g.209974625C>T	OMIM Allelic Variant:607199.0011	C0175697 119300 Van der Woude syndrome
NM_006147.3(IRF6):c.65T>C (p.Leu22Pro)	3664	IRF6	Pathogenic	387906967	RCV000023628; RCV000023629;	N	MedGen:C0175697,OMIM:119300,ORPHA:888,SNOMED CT:79261008; MedGen:C0265259,OMIM:119500,ORPHA:294963,SNOMED CT:66783006	1	209974694	209974694	NM_006147.3:c.65T>C	NP_006138.1:p.Leu22Pro	NC_000001.10:g.209974694A>G	OMIM Allelic Variant:607199.0014	C0265259 119500 Popliteal pterygium syndrome; C0175697 119300 Van der Woude syndrome
NM_006147.3(IRF6):c.16C>T (p.Arg6Cys)	3664	IRF6	Pathogenic	28942094	RCV000003586;	N	MedGen:C0175697,OMIM:119300,ORPHA:888,SNOMED CT:79261008	1	209974743	209974743	NM_006147.3:c.16C>T	NP_006138.1:p.Arg6Cys	NC_000001.10:g.209974743G>A	OMIM Allelic Variant:607199.0007	C0175697 119300 Van der Woude syndrome
NM_006147.3(IRF6):c.5C>T (p.Ala2Val)	3664	IRF6	Pathogenic	28942093	RCV000003585;	N	MedGen:C0175697,OMIM:119300,ORPHA:888,SNOMED CT:79261008	1	209974754	209974754	NM_006147.3:c.5C>T	NP_006138.1:p.Ala2Val	NC_000001.10:g.209974754G>A	OMIM Allelic Variant:607199.0006	C0175697 119300 Van der Woude syndrome