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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

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

Disease Browser
Parent Node: Branchio-Oto-Renal Syndrome (D019280)
..Starting node ..Branchiootic Syndrome 3 (C564248)
Child Nodes:
Sister Nodes:
..Bor-Duane hydrocephalus contiguous gene syndrome (C536574)
..Branchiootic syndrome (C537104)
..Branchiootic Syndrome 2 (C565171)
..Branchiootic Syndrome 3 (C564248)
..Otofaciocervical Syndrome (C563481)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

1467

Name:

Branchiootic Syndrome 3

Definition:

Alternative IDs:

OMIM:608389

ParentIDs:

MESH:D019280

TreeNumbers:

C16.131.077.208/C564248 |C16.131.260.090/C564248 |C16.320.180.090/C564248

Synonyms:

BOS3 |BO Syndrome 3

Slim Mappings:

Congenital abnormality|Genetic disease (inborn)

Reference:

MedGen: C564248
MeSH: C564248
OMIM: 608389;

Genes: SIX1;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0009796	Branchial cyst
3	HP:0002710	Commissural lip pit
4	HP:0007678	Lacrimal duct stenosis
5	HP:0004467	Preauricular pit
6	HP:0000384	Preauricular skin tag
7	HP:0000407	Sensorineural hearing impairment

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_005982.3(SIX1):c.560+1G>C	6495	SIX1	Likely pathogenic	863223330	RCV000201277;	N	MedGen:C1842124,OMIM:608389	14	61115347	61115347	NM_005982.3:c.560+1G>C		NC_000014.8:g.61115347C>G	-	C1842124 608389 Branchiootic syndrome 3
NM_005982.3(SIX1):c.397_399delGAG (p.Glu133del)	6495	SIX1	Pathogenic	80356460	RCV000020636; RCV000008808;	N	MedGen:C1842124,OMIM:608389; MedGen:C1854594,OMIM:605192	14	61115509	61115511	NM_005982.3:c.397_399delGAG	NP_005973.1:p.Glu133del	NC_000014.8:g.61115509_61115511delCTC	OMIM Allelic Variant:601205.0003	C1842124 608389 Branchiootic syndrome 3; C1854594 605192 Deafness, autosomal dominant 23
NM_005982.3(SIX1):c.386A>G (p.Tyr129Cys)	6495	SIX1	Pathogenic	104894478	RCV000055925; RCV000008806;	N	MedGen:C0265234,OMIM:113650,ORPHA:107,SNOMED CT:290006; MedGen:C1842124,OMIM:608389	14	61115522	61115522	NM_005982.3:c.386A>G	NP_005973.1:p.Tyr129Cys	NC_000014.8:g.61115522T>C	OMIM Allelic Variant:601205.0001	C1842124 608389 Branchiootic syndrome 3; C0265234 113650 Melnick-Fraser syndrome
NM_005982.3(SIX1):c.364T>A (p.Trp122Arg)	6495	SIX1	Pathogenic	121909770	RCV000008809;	N	MedGen:C1842124,OMIM:608389	14	61115544	61115544	NM_005982.3:c.364T>A	NP_005973.1:p.Trp122Arg	NC_000014.8:g.61115544A>T	OMIM Allelic Variant:601205.0004	C1842124 608389 Branchiootic syndrome 3
NM_005982.3(SIX1):c.328C>T (p.Arg110Trp)	6495	SIX1	Pathogenic	80356459	RCV000008807;	N	MedGen:C1842124,OMIM:608389	14	61115580	61115580	NM_005982.3:c.328C>T	NP_005973.1:p.Arg110Trp	NC_000014.8:g.61115580G>A	OMIM Allelic Variant:601205.0002	C1842124 608389 Branchiootic syndrome 3