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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

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: Abnormalities, Multiple (D000015)
Parent Node: Chromosome Disorders (D025063)
..Starting node ..Branchio-Oto-Renal Syndrome (D019280)
Child Nodes:
........Bor-Duane hydrocephalus contiguous gene syndrome (C536574)
........Branchiootic syndrome (C537104)
........Branchiootic Syndrome 2 (C565171)
........Branchiootic Syndrome 3 (C564248)
........Otofaciocervical Syndrome (C563481)
Sister Nodes:
..10p Deletion Syndrome (Partial) (C538288)
..13q deletion syndrome (C535484) 1
..15q24 Microdeletion (C579849)
..16p11.2 Deletion Syndrome (C579850)
..22q11 Deletion Syndrome (D058165) 5
..6q+ Syndrome, Partial (C537810)
..7p2 monosomy syndrome (C537818)
..9q22.3 Microdeletion (C579873)
..Angelman Syndrome (D017204) 1
..Beckwith-Wiedemann Syndrome (D001506) 1
..Branchio-Oto-Renal Syndrome (D019280) 5
..Chromosome 10q duplication syndrome (C537804)
..Chromosome 13q-mosaicism (C535486)
..Chromosome 15q13.3 Microdeletion Syndrome (C567439)
..Chromosome 17p13.3 Duplication Syndrome (C567705)
..Chromosome 18 deletion syndrome (C536580)
..Chromosome 18p deletion syndrome (C538309)
..Chromosome 19q13.11 Deletion Syndrome (C567810)
..Chromosome 1p36 Deletion Syndrome (C535362)
..Chromosome 22, monosome mosaic (C536798)
..Chromosome 3 duplication syndrome (C536803)
..Chromosome 3q29 Duplication Syndrome (C567626)
..Chromosome 4, 4q Terminal Deletion Syndrome (C537641)
..Chromosome 4q- Syndrome (C537639)
..Chromosome 5p13 Duplication Syndrome (C567717)
..Chromosome 6 ring syndrome (C537763)
..Chromosome 7 ring syndrome (C537813)
..Chromosome Xp11.23-P11.22 Duplication Syndrome (C567585)
..Contiguous Abcd1/Dxs1375e Deletion Syndrome (C564508)
..Cri-du-Chat Syndrome (D003410) 6
..De Lange Syndrome (D003635) 1
..Delayed Cranial Ossification due to CBFB Haploinsufficiency (C565160)
..Deletion 13q syndrome, partial (C535449)
..Distal Trisomy 10q Syndrome (C538087)
..Down Syndrome (D004314) 6
..Duplication 4p Syndrome (C537643)
..Edinburgh Malformation Syndrome (C563051)
..Emanuel syndrome (C535733)
..Fragile Site 16p12 (C565001)
..Holoprosencephaly (D016142) 22
..Isodicentric Chromosome 15 Syndrome (C580205)
..Jacobsen Distal 11q Deletion Syndrome (D054868) 1
..Mental Retardation, Fra12a Type (C566980)
..Monosomy 7 of Bone Marrow (C565370)
..Mosaic variegated aneuploidy syndrome (C536987)
..NF1 Microduplication Syndrome (C567173)
..Otodental Dysplasia (C563482)
..Pallister Killian syndrome (C538105)
..Partial Duplication 15q Syndrome (C538036)
..Partial Trisomy 3q Syndrome (C537635)
..Patau syndrome (C536305)
..Potocki-Shaffer syndrome (C538356)
..Prader-Willi Syndrome (D011218) 2
..Recombinant chromosome 8 syndrome (C535296)
..Ring chromosome 4 syndrome (C537636)
..Rubinstein-Taybi Syndrome (D012415) 2
..Schmid-Fraccaro syndrome (C535918)
..Sex Chromosome Disorders (D025064) 32
..Silver-Russell Syndrome (D056730) 1
..Smith-Magenis Syndrome (D058496) 1
..Sotos Syndrome (D058495) 1
..Telomeric 22q13 Monosomy Syndrome (C536801)
..Thrombocytopenia chromosome breakage (C536519)
..Trisomy 18-Like Syndrome (C563382)
..Trisomy 22 mosaicism syndrome (C536796)
..WAGR Syndrome (D017624) 2
..Warburton Anyane Yeboa syndrome (C536682)
..Williams Syndrome (D018980) 1
..Wolf-Hirschhorn Syndrome (D054877)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

1468

Name:

Branchio-Oto-Renal Syndrome

Definition:

An autosomal dominant disorder manifested by various combinations of preauricular pits, branchial fistulae or cysts, lacrimal duct stenosis, hearing loss, structural defects of the outer, middle, or inner ear, and renal dysplasia. Associated defects include asthenic habitus, long narrow facies, constricted palate, deep overbite, and myopia. Hearing loss may be due to Mondini type cochlear defect and stapes fixation. (Jablonski's Dictionary of Syndromes & Eponymic Diseases, 2d ed)

Alternative IDs:

OMIM:113620|OMIM:113650|OMIM:610896

ParentIDs:

MESH:D000015|MESH:D025063

TreeNumbers:

C16.131.077.208 |C16.131.260.090 |C16.320.180.090

Synonyms:

Slim Mappings:

Congenital abnormality|Genetic disease (inborn)

Reference:

MedGen: D019280
MeSH: D019280
OMIM: 113620;

Genes: EYA1; SIX5; TFAP2A;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0000164	Abnormality of the dentition
3	HP:0002335	Agenesis of cerebellar vermis
4	HP:0000528	Anophthalmia
5	HP:0001057	Aplasia cutis congenita
6	HP:0000987	Atypical scarring of skin
7	HP:0009794	Branchial anomaly
8	HP:0000455	Broad nasal tip
9	HP:0000518	Cataract
10	HP:0000175	Cleft palate
11	HP:0000204	Cleft upper lip
12	HP:0004209	Clinodactyly of the 5th finger
13	HP:0000405	Conductive hearing impairment
14	HP:0000028	Cryptorchidism
15	HP:0005280	Depressed nasal bridge
16	HP:0004334	Dermal atrophy
17	HP:0000268	Dolichocephaly
18	HP:0005217	Duplication of internal organs
19	HP:0010517	Ectopic thymus tissue
20	HP:0002987	Elbow flexion contracture
21	HP:0005473	Fusion of middle ear ossicles
22	HP:0002020	Gastroesophageal reflux
23	HP:0010566	Hamartoma
24	HP:0003307	Hyperlordosis
25	HP:0000316	Hypertelorism
26	HP:0001804	Hypoplastic fingernail
27	HP:0008559	Hypoplastic superior helix
28	HP:0000047	Hypospadias
29	HP:0001256	Intellectual disability, mild
30	HP:0001511	Intrauterine growth retardation
31	HP:0000612	Iris coloboma
32	HP:0002808	Kyphosis
33	HP:0002162	Low posterior hairline
34	HP:0000369	Low-set ears
35	HP:0000196	Lower lip pit
36	HP:0000272	Malar flattening
37	HP:0004785	Malrotation of colon
38	HP:0000252	Microcephaly
39	HP:0000347	Micrognathia
40	HP:0000568	Microphthalmia
41	HP:0008551	Microtia
42	HP:0000545	Myopia
43	HP:0001611	Nasal speech
44	HP:0000579	Nasolacrimal duct obstruction
45	HP:0000639	Nystagmus
46	HP:0000396	Overfolded helix
47	HP:0004464	Postauricular pit
48	HP:0000358	Posteriorly rotated ears
49	HP:0008897	Postnatal growth retardation	HP:0040284
50	HP:0004467	Preauricular pit
51	HP:0001177	Preaxial hand polydactyly
52	HP:0002216	Premature graying of hair
53	HP:0009623	Proximal placement of thumb
54	HP:0000508	Ptosis
55	HP:0002021	Pyloric stenosis
56	HP:0000104	Renal agenesis
57	HP:0000107	Renal cyst
58	HP:0000480	Retinal coloboma
59	HP:0001250	Seizure
60	HP:0000407	Sensorineural hearing impairment
61	HP:0000420	Short nasal septum
62	HP:0000470	Short neck
63	HP:0009778	Short thumb
64	HP:0000954	Single transverse palmar crease
65	HP:0000350	Small forehead
66	HP:0000486	Strabismus
67	HP:0002558	Supernumerary nipple
68	HP:0008606	Supraauricular pit
69	HP:0000506	Telecanthus
70	HP:0000582	Upslanted palpebral fissure
71	HP:0002211	White forelock
72	HP:0006610	Wide intermamillary distance

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_001042425.1(TFAP2A):c.874G>A (p.Glu292Lys)	7020	TFAP2A	Pathogenic	267607108	RCV000019535;	N	MedGen:C0376524,OMIM:113620,ORPHA:1297	6	10400820	10400820	NM_001042425.1:c.874G>A	NP_001035890.1:p.Glu292Lys	NC_000006.11:g.10400820C>T	OMIM Allelic Variant:107580.0006	C0376524 113620 Branchiooculofacial syndrome
NM_001042425.1(TFAP2A):c.773G>A (p.Gly258Glu)	7020	TFAP2A	Pathogenic	121909575	RCV000019531;	N	MedGen:C0376524,OMIM:113620,ORPHA:1297	6	10402823	10402823	NM_001042425.1:c.773G>A	NP_001035890.1:p.Gly258Glu	NC_000006.11:g.10402823C>T	OMIM Allelic Variant:107580.0002	C0376524 113620 Branchiooculofacial syndrome
NM_001042425.1(TFAP2A):c.751A>G (p.Arg251Gly)	7020	TFAP2A	Pathogenic	121909574	RCV000019530;	N	MedGen:C0376524,OMIM:113620,ORPHA:1297	6	10404742	10404742	NM_001042425.1:c.751A>G	NP_001035890.1:p.Arg251Gly	NC_000006.11:g.10404742T>C	OMIM Allelic Variant:107580.0001	C0376524 113620 Branchiooculofacial syndrome
NM_001042425.1(TFAP2A):c.698G>A (p.Arg233Gln)	7020	TFAP2A	Pathogenic	151344525	RCV000019536;	N	MedGen:C0376524,OMIM:113620,ORPHA:1297	6	10404795	10404795	NM_001042425.1:c.698G>A	NP_001035890.1:p.Arg233Gln	NC_000006.11:g.10404795C>T	OMIM Allelic Variant:107580.0007	C0376524 113620 Branchiooculofacial syndrome
NM_001042425.1(TFAP2A):c.637C>A (p.Arg213Ser)	7020	TFAP2A	Pathogenic	793888540	RCV000172980;	N	MedGen:C0376524,OMIM:113620,ORPHA:1297	6	10404856	10404856	NM_001042425.1:c.637C>A	NP_001035890.1:p.Arg213Ser	NC_000006.11:g.10404856G>T	-	C0376524 113620 Branchiooculofacial syndrome
NM_001042425.1(TFAP2A):c.629T>A (p.Val210Asp)	7020	TFAP2A	Pathogenic	793888541	RCV000172981;	N	MedGen:C0376524,OMIM:113620,ORPHA:1297	6	10404864	10404864	NM_001042425.1:c.629T>A	NP_001035890.1:p.Val210Asp	NC_000006.11:g.10404864A>T	-	C0376524 113620 Branchiooculofacial syndrome