Branchiootic Syndrome disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Branchiootic Syndrome

MalaCards integrated aliases for Branchiootic Syndrome:

Name: Branchiootic Syndrome ¹¹ ¹⁹ ⁵⁸ ⁴³ ¹⁴

Branchiootic Dysplasia ¹¹ ¹⁹

Bo Syndrome ¹¹ ⁵³

Branchiootic Syndrome 1 ⁷¹

Bo Syndrome 1 ¹⁹

Bos1 ¹⁹

Bor ¹¹

Characteristics:

Inheritance:

Autosomal dominant ⁵⁸

Age Of Onset:

Neonatal ⁵⁸

Classifications:

MalaCards categories:
Global: Rare diseases Fetal diseases Genetic diseases
Anatomical: Ear diseases Nephrological diseases

See all MalaCards categories (disease lists)

ICD10: ³¹ ³²

Congenital malformations, deformations and chromosomal abnormalities

Other congenital malformations

Other specified congenital malformation syndromes affecting multiple systems

Congenital malformation syndromes predominantly affecting facial appearance

Orphanet: ⁵⁸

Rare otorhinolaryngological diseases

Developmental anomalies during embryogenesis

External Ids:

Disease Ontology ¹¹ DOID:0060232

MeSH ⁴³ C537104

ICD10 ³¹ Q87.0

ICD10 via Orphanet ³² Q87.0

Orphanet ⁵⁸ ORPHA52429

SNOMED-CT via HPO ⁶⁹ 15253005 193093009 1955003 more

UMLS ⁷¹ C1865143

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Summaries for Branchiootic Syndrome

GARD: ¹⁹ Branchiootic syndrome is a rare, genetic multiple congenital anomalies syndrome characterized by second branchial arch anomalies (branchial cysts and fistulae), malformations of the outer, middle and inner ear associated with sensorineural, mixed or conductive hearing loss, and the absence of renal abnormalities. Typical ear findings consist of malformed auricles (e.g. lop or cupped ears), preauricular pits and/or tags, and middle and/or inner ear dysplasias (inculding cochlear, vestibular and semicircular channel hypoplasia, malformation of the ossicles and of middle ear space).

MalaCards based summary: Branchiootic Syndrome, also known as branchiootic dysplasia, is related to branchiootic syndrome 1 and branchiootorenal syndrome. An important gene associated with Branchiootic Syndrome is EYA1 (EYA Transcriptional Coactivator And Phosphatase 1), and among its related pathways/superpathways are DNA Double Strand Break Response and Development of ureteric collection system. Affiliated tissues include skin, lung and bone marrow, and related phenotypes are preauricular pit and sensorineural hearing impairment

Orphanet: ⁵⁸ Branchiootic syndrome is a rare, genetic multiple congenital anomalies syndrome characterized by second branchial arch anomalies (branchial cysts and fistulae), malformations of the outer, middle and inner ear associated with sensorineural, mixed or conductive hearing loss, and the absence of renal abnormalities. Typical ear findings consist of malformed auricles (e.g. lop or cupped ears), preauricular pits and/or tags, and middle and/or inner ear dysplasias (inculding cochlear, vestibular and semicircular channel hypoplasia, malformation of the ossicles and of middle ear space).

Disease Ontology: ¹¹ A syndrome characterized by malformations of the outer, middle and inner ear and branchial and renal malformations. Mutations of the EYA1, SIX1 and SIX5 genes are associated with the syndrome.

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Related Diseases for Branchiootic Syndrome

Diseases in the Branchiootic Syndrome family:

Branchiootic Syndrome 2	Branchiootic Syndrome 1
Branchiootic Syndrome 3

Diseases related to Branchiootic Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 93)

#	Related Disease	Score	Top Affiliating Genes
1	branchiootic syndrome 1	32.9	SIX1 EYA1
2	branchiootorenal syndrome	31.5	SIX6 SIX5 SIX4 SIX2 SIX1 SALL1
3	renal hypoplasia	30.3	SIX5 SIX2 SIX1 SALL1 EYA1
4	renal agenesis, bilateral	30.1	GREB1L EYA1
5	renal hypodysplasia/aplasia 1	30.1	SIX5 SIX2 SIX1 SALL1 GREB1L EYA1
6	branchiootorenal syndrome 1	30.0	SIX1 EYA1
7	branchiooculofacial syndrome	30.0	SALL1 MSX1 EYA1
8	oligomeganephronia	30.0	SALL1 EYA1
9	craniofacial microsomia	29.7	ZYG11B YPEL1 XXYLT1 SALL1 MSX1
10	branchiootic syndrome 3	11.6
11	branchiootic syndrome 2	11.3
12	chromosome 8q12.1-q21.2 deletion syndrome	11.2
13	branchiootorenal syndrome 2	11.0
14	eustachian tube disease	10.3	SIX5 EYA1
15	rare genetic deafness	10.3
16	patulous eustachian tube	10.3	SIX5 SIX1 EYA1
17	bilateral renal aplasia	10.3	GREB1L EYA1
18	superior semicircular canal dehiscence	10.2	GREB1L EYA4
19	lacrimal duct obstruction	10.2	SIX5 EYA1
20	bardet-biedl syndrome 8	10.2	SIX6 SIX4
21	preauricular fistulae, congenital	10.2
22	branchiootorenal spectrum disorder	10.2
23	autosomal dominant nonsyndromic deafness	10.2	SIX1 GREB1L EYA4 EYA1
24	wilms tumor 1	10.1	SIX2 SIX1 SALL1 EYA1
25	deafness, autosomal recessive 4, with enlarged vestibular aqueduct	10.1	SIX5 FOXI1 EYA1
26	papillorenal syndrome	10.1	SIX5 SIX2 SIX1 SALL1 EYA1
27	kidney disease	10.1
28	townes-brocks syndrome	10.1	SIX5 SIX2 SIX1 SALL1 EYA1
29	duane retraction syndrome 1	10.1
30	fraser syndrome 1	10.1
31	duane retraction syndrome	10.1
32	branchial arch defects	10.0
33	contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a	10.0
34	vesicoureteral reflux	10.0	SIX5 SIX2 SIX1 SALL1 GREB1L EYA1
35	congenital anomalies of kidney and urinary tract 2	10.0	SIX5 EYA1
36	coloboma of macula	10.0	SIX6 SIX1 SALL1 MSX1 EYA1
37	deafness, autosomal dominant 10	10.0	SIX5 SIX1 EYA4 EYA3 EYA2 EYA1
38	cakut	10.0	SIX5 SIX2 SIX1 SALL1 GREB1L EYA1
39	microphthalmia	10.0	SIX6 SALL1 EYA3 EYA2 EYA1
40	hydrocephalus, autosomal dominant	10.0
41	ear malformation	10.0
42	oculodentodigital dysplasia	10.0
43	parkinson disease, late-onset	10.0
44	cervical cancer	10.0
45	sensorineural hearing loss	10.0
46	hydrocephalus	10.0
47	bell's palsy	10.0
48	personality disorder	10.0
49	trichorhinophalangeal syndrome, type ii	9.9
50	treacher collins syndrome 1	9.9

Graphical network of the top 20 diseases related to Branchiootic Syndrome:

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Symptoms & Phenotypes for Branchiootic Syndrome

Human phenotypes related to Branchiootic Syndrome:

⁵⁸ ³⁰ (show all 16)

#	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	preauricular pit ⁵⁸ ³⁰	Hallmark (90%)	Very frequent (99-80%)	HP:0004467
2	sensorineural hearing impairment ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0000407
3	conductive hearing impairment ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0000405
4	abnormality of the inner ear ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0000359
5	atresia of the external auditory canal ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0000413
6	branchial fistula ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0009795
7	morphological abnormality of the middle ear ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0008609
8	facial palsy ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0010628
9	cleft palate ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0000175
10	micrognathia ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0000347
11	facial asymmetry ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0000324
12	preauricular skin tag ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0000384
13	lip pit ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0100267
14	abnormal nasolacrimal system morphology ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0000614
15	hearing impairment ⁵⁸		Very frequent (99-80%)
16	abnormality of the outer ear ⁵⁸		Frequent (79-30%)

MGI Mouse Phenotypes related to Branchiootic Syndrome:

⁴⁵

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	growth/size/body region	MP:0005378	10.18	EYA1 EYA2 EYA3 EYA4 GREB1L MSX1
2	hearing/vestibular/ear	MP:0005377	10.06	EYA1 EYA2 EYA3 EYA4 FOXI1 MSX1
3	renal/urinary system	MP:0005367	10.03	EYA1 EYA3 FOXI1 GREB1L SALL1 SIX1
4	embryo	MP:0005380	9.97	EYA1 EYA4 GREB1L MSX1 SALL1 SIX1
5	digestive/alimentary	MP:0005381	9.86	EYA1 EYA4 GREB1L MSX1 SALL1 SIX1
6	behavior/neurological	MP:0005386	9.77	EYA1 EYA2 EYA3 FOXI1 MSX1 SALL1
7	craniofacial	MP:0005382	9.7	EYA1 EYA4 FOXI1 MSX1 SIX1 SIX2
8	vision/eye	MP:0005391	9.32	EYA1 EYA3 MSX1 SIX1 SIX4 SIX5

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Drugs & Therapeutics for Branchiootic Syndrome

Search Clinical Trials, NIH Clinical Center for Branchiootic Syndrome

Cochrane evidence based reviews: branchiootic syndrome

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Genetic Tests for Branchiootic Syndrome

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Anatomical Context for Branchiootic Syndrome

Organs/tissues related to Branchiootic Syndrome:

MalaCards : Skin, Lung, Bone Marrow, Kidney, Bone

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Publications for Branchiootic Syndrome

Articles related to Branchiootic Syndrome:

(show top 50) (show all 102)

#	Title	Authors	PMID	Year
1	A novel splice site mutation in the EYA1 gene in a Korean family with branchio-oto (BO) syndrome. ⁵³ ⁶²	Kwon MJ...Hong SH	18763178	2009
2	A novel nonsense mutation in the EYA1 gene associated with branchio-oto-renal/branchiootic syndrome in an Afrikaner kindred. ⁵³ ⁶²	Clarke JC...Brophy PD	16813606	2006
3	A family affected by branchio-oto syndrome with EYA1 mutations. ⁵³ ⁶²	Fukuda S...Inuyama Y	11683347	2001
4	Eya1-deficient mice lack ears and kidneys and show abnormal apoptosis of organ primordia. ⁵³ ⁶²	Xu PX...Maas R	10471511	1999
5	BOR and BO syndromes are allelic defects of EYA1. ⁵³ ⁶²	Vincent C...Petit C	9359046	1997
6	Assessment of genotyping array performance for genome-wide association studies and imputation in African cattle. ⁶²	Riggio V...Morrison LJ	36057548	2022
7	Ectopic expression of BOTRYTIS SUSCEPTIBLE1 reveals its function as a positive regulator of wound-induced cell death and plant susceptibility to Botrytis. ⁶²	Cui F...Overmyer K	35946779	2022
8	A monoallelic variant in EYA1 is associated with Branchio-Otic syndrome in a Malian family. ⁶²	Yalcouye A...Wonkam A	35698919	2022
9	[Genetic analysis of a Chinese pedigree affected with branchiootic syndrome due to a nonsense variant of EYA1 gene]. ⁶²	Han R...Ding J	35446969	2022
10	Fungicide resistance characterized across seven modes of action in Botrytis cinerea isolated from Australian vineyards. ⁶²	Harper LA...Lopez-Ruiz FJ	34854539	2022
11	Preliminary Study of Resistance Mechanism of Botrytis cinerea to SYAUP-CN-26. ⁶²	Wang K...Qi Z	35164201	2022
12	Machine Learning Analysis Reveals Biomarkers for the Detection of Neurological Diseases. ⁶²	Lam S...Mardinoglu A	35711735	2022
13	Combined Abiotic Stresses Repress Defense and Cell Wall Metabolic Genes and Render Plants More Susceptible to Pathogen Infection. ⁶²	Sewelam N...Maurino VG	34579478	2021
14	[Identification and genetic analysis of new mutations in EYA1 gene of BOS syndrome]. ⁶²	Ma J...Ruan B	34666446	2021
15	Otological manifestations in branchiootorenal spectrum disorder: A systematic review and meta-analysis. ⁶²	Chen A...He C	33624842	2021
16	A mutation of EYA1 gene in a Chinese Han family with Branchio-Oto syndrome. ⁶²	Han R...La X	34160378	2021
17	Identification and Characterization of Fungicide Resistance in Botrytis Populations from Small Fruit Fields in the Mid-Atlantic United States. ⁶²	Cosseboom SD...Hu M	33719541	2021
18	Burnout syndrome in medical oncologists during the COVID-19 pandemic: Argentinian national survey. ⁶²	Guercovich A...Angel M	33912238	2021
19	Characterization of the Field Fludioxonil Resistance and Its Molecular Basis in Botrytis cinerea from Shanghai Province in China. ⁶²	Wang W...Liu X	33525426	2021
20	Biological Characteristics and Molecular Mechanism of Fludioxonil Resistance in Botrytis cinerea From Henan Province of China. ⁶²	Zhou F...Li CW	31999220	2020
21	Identification of a Novel CNV at 8q13 in a Family With Branchio-Oto-Renal Syndrome and Epilepsy. ⁶²	Men M...Li JD	30908667	2020
22	Comparative quantitative proteomics of osmotic signal transduction mutants in Botrytis cinerea explain mutant phenotypes and highlight interaction with cAMP and Ca2+ signalling pathways. ⁶²	Kilani J...Fillinger S	31733416	2020
23	Cell death regulation but not abscisic acid signaling is required for enhanced immunity to Botrytis in Arabidopsis cuticle-permeable mutants. ⁶²	Cui F...Overmyer K	31328223	2019
24	EYA1 mutations leads to Branchio-Oto syndrome in two Chinese Han deaf families. ⁶²	Chen P...Yang T	31102969	2019
25	Crucial and Overlapping Roles of Six1 and Six2 in Craniofacial Development. ⁶²	Liu Z...Jiang R	30905259	2019
26	New rhodamine B-based chromo-fluorogenic probes for highly selective detection of aluminium(iii) ions and their application in living cell imaging. ⁶²	Leng X...Yang B	35517253	2019
27	Identification of ANLN as a new likely pathogenic gene of branchio-otic syndrome in a three-generation Chinese family. ⁶²	Deng L...Ma Z	30548429	2019
28	Familial Interstitial 6q23.2 Deletion Including Eya4 Associated With Otofaciocervical Syndrome. ⁶²	Gana S...Bertini V	31379922	2019
29	Genetic mutation of familial dilated cardiomyopathy based on next‑generation semiconductor sequencing. ⁶²	Lin XF...Lin X	30221713	2018
30	Sensitivity of Botrytis cinerea Isolates from Conventional and Organic Strawberry Fields in Brazil to Azoxystrobin, Iprodione, Pyrimethanil, and Thiophanate-Methyl. ⁶²	Baggio JS...Amorim L	30125196	2018
31	Chemical Composition of Myrtle (Myrtus communis L.) Berries Essential Oils as Observed in a Collection of Genotypes. ⁶²	Usai M...Mulas M	30274291	2018
32	Detection and Molecular Characterization of Resistance to the Dicarboximide and Benzamide Fungicides in Botrytis cinerea From Tomato in Hubei Province, China. ⁶²	Adnan M...Luo CX	30673571	2018
33	Characterization of Botrytis cinerea isolates collected on pepper in Southern Turkey by using molecular markers, fungicide resistance genes and virulence assay. ⁶²	Polat I...Carimi F	29505818	2018
34	Whole exome sequencing identifies a mutation in EYA1 and GLI3 in a patient with branchio‑otic syndrome and esophageal atresia: Coincidence or a digenic mode of inheritance? ⁶²	Kause F...Zhang R	29257230	2018
35	Functional assays for the assessment of the pathogenicity of variants of GOSR2, an ER-to-Golgi SNARE involved in progressive myoclonus epilepsies. ⁶²	Volker JM...Schwake M	28982678	2017
36	Botrytis fragariae, a New Species Causing Gray Mold on Strawberries, Shows High Frequencies of Specific and Efflux-Based Fungicide Resistance. ⁶²	Rupp S...Hahn M	28235878	2017
37	A gapless genome sequence of the fungus Botrytis cinerea. ⁶²	Van Kan JA...Scalliet G	26913498	2017
38	Characterization of Resistance to Six Chemical Classes of Site-Specific Fungicides Registered for Gray Mold Control on Strawberry in Spain. ⁶²	Fernandez-Ortuno D...de Vicente A	30682911	2016
39	Molecular and Biochemical Characterization of Laboratory and Field Mutants of Botrytis cinerea Resistant to Fludioxonil. ⁶²	Ren W...Chen C	30686204	2016
40	Overexpression of native Saccharomyces cerevisiae ER-to-Golgi SNARE genes increased heterologous cellulase secretion. ⁶²	Van Zyl JH...Van Zyl WH	26450509	2016
41	A Botrytis cinerea Population from a Single Strawberry Field in Germany has a Complex Fungicide Resistance Pattern. ⁶²	Grabke A...Stammler G	30695938	2015
42	Germinal mosaicism in a family with BO syndrome. ⁶²	Miyagawa M...Usami S	25780253	2015
43	Independent Emergence of Resistance to Seven Chemical Classes of Fungicides in Botrytis cinerea. ⁶²	Fernandez-Ortuno D...Schnabel G	25317841	2015
44	Biopsy-verified bronchiolitis obliterans and other noninfectious lung pathologies after allogeneic hematopoietic stem cell transplantation. ⁶²	Uhlving HH...Muller KG	25498923	2015
45	Novel partial duplication of EYA1 causes branchiootic syndrome in a large Brazilian family. ⁶²	Dantas VG...Mingroni-Netto RC	25926005	2015
46	SIX1 gene: absence of mutations in children with isolated congenital anomalies of kidney and urinary tract. ⁶²	Negrisolo S...Artifoni L	24899122	2014
47	De novo donor HLA-specific antibodies predict development of bronchiolitis obliterans syndrome after lung transplantation. ⁶²	Safavi S...Smith JD	25130554	2014
48	Development of a two-step high-resolution melting (HRM) analysis for screening sequence variants associated with resistance to the QoIs, benzimidazoles and dicarboximides in airborne inoculum of Botrytis cinerea. ⁶²	Chatzidimopoulos M...Pappas AC	25196894	2014
49	Are we near to an effective drug treatment for bronchiolitis obliterans? ⁶²	Verleden GM...Verleden SE	25154562	2014
50	A true branchial fistula in the context of branchiootic syndrome: challenges of diagnosis and management. ⁶²	Jovic TH...Ahmad T	24933236	2014

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Genes for Branchiootic Syndrome

Genes related to Branchiootic Syndrome (3 elite genes):

(show all 30)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	EYA1	EYA Transcriptional Coactivator And Phosphatase 1	Protein Coding	396.79	Causative germline mutation ⁵⁸ DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Disorders Publications Summaries (show sections)	9359046 23840632 11683347 (more) 18763178 16813606 10471511
2	SIX1	SIX Homeobox 1	Protein Coding	374.92	Causative germline mutation ⁵⁸ DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Summaries (show sections)	15141091
3	BOS2	Branchiootic Syndrome 2	Genetic Locus	58.22	MalaCards inferred ³⁹ GeneCards inferred via : Gene name (show sections)
4	SIX5	SIX Homeobox 5	Protein Coding	7.62	DISEASES inferred ¹⁴
5	SIX4	SIX Homeobox 4	Protein Coding	6.56	DISEASES inferred ¹⁴
6	SIX2	SIX Homeobox 2	Protein Coding	6.3	DISEASES inferred ¹⁴
7	EYA4	EYA Transcriptional Coactivator And Phosphatase 4	Protein Coding	6.11	DISEASES inferred ¹⁴
8	SALL1	Spalt Like Transcription Factor 1	Protein Coding	5.68	DISEASES inferred ¹⁴
9	EYA2	EYA Transcriptional Coactivator And Phosphatase 2	Protein Coding	5.61	DISEASES inferred ¹⁴
10	GREB1L	GREB1 Like Retinoic Acid Receptor Coactivator	Protein Coding	5.59	DISEASES inferred ¹⁴
11	SIX6	SIX Homeobox 6	Protein Coding	5.47	DISEASES inferred ¹⁴
12	YPEL1	Yippee Like 1	Protein Coding	5.44	DISEASES inferred ¹⁴
13	ZNF462	Zinc Finger Protein 462	Protein Coding	5.38	DISEASES inferred ¹⁴
14	EYA3	EYA Transcriptional Coactivator And Phosphatase 3	Protein Coding	5.38	DISEASES inferred ¹⁴
15	XXYLT1	Xyloside Xylosyltransferase 1	Protein Coding	5.37	DISEASES inferred ¹⁴
16	ZYG11B	Zyg-11 Family Member B, Cell Cycle Regulator	Protein Coding	5.24	DISEASES inferred ¹⁴
17	LINC01312	Long Intergenic Non-Protein Coding RNA 1312	RNA Gene	5.21	DISEASES inferred ¹⁴
18	FOXI1	Forkhead Box I1	Protein Coding	5.14	DISEASES inferred ¹⁴
19	MSX1	Msh Homeobox 1	Protein Coding	5.09	DISEASES inferred ¹⁴
20	ZNF597	Zinc Finger Protein 597	Protein Coding	4.91	DISEASES inferred ¹⁴
21	CHD7	Chromodomain Helicase DNA Binding Protein 7	Protein Coding	4.89	DISEASES inferred ¹⁴
22	TCOF1	Treacle Ribosome Biogenesis Factor 1	Protein Coding	4.88	DISEASES inferred ¹⁴
23	OTX2	Orthodenticle Homeobox 2	Protein Coding	4.86	DISEASES inferred ¹⁴
24	PAX1	Paired Box 1	Protein Coding	4.83	DISEASES inferred ¹⁴
25	RIPPLY3	Ripply Transcriptional Repressor 3	Protein Coding	4.8	DISEASES inferred ¹⁴
26	DLX5	Distal-Less Homeobox 5	Protein Coding	4.8	DISEASES inferred ¹⁴
27	SNORD101	Small Nucleolar RNA, C/D Box 101	RNA Gene	4.77	DISEASES inferred ¹⁴
28	LINC00326	Long Intergenic Non-Protein Coding RNA 326	RNA Gene	4.73	DISEASES inferred ¹⁴
29	MIR548AJ1	MicroRNA 548aj-1	RNA Gene	4.73	DISEASES inferred ¹⁴
30	MIR194-2	MicroRNA 194-2	RNA Gene	4.72	DISEASES inferred ¹⁴

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Variations for Branchiootic Syndrome

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Expression for Branchiootic Syndrome

Search GEO for disease gene expression data for Branchiootic Syndrome.

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Pathways for Branchiootic Syndrome

Pathways related to Branchiootic Syndrome according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	DNA Double Strand Break Response ⁶⁶ Show member pathways Nonhomologous End-Joining (NHEJ) ⁶⁶ Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks ⁶⁶ Sensing of DNA Double Strand Breaks ⁶⁶	11.62	EYA4 EYA3 EYA2 EYA1
2	Development of ureteric collection system ⁷⁴	10.67	SIX2 SIX1 SALL1 GREB1L EYA1
3	GDNF/RET signaling axis ⁷⁴	10.39	SALL1 EYA1

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GO Terms for Branchiootic Syndrome

Cellular components related to Branchiootic Syndrome according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	transcription regulator complex	GO:0005667	9.47	SIX6 SIX5 SIX4 SIX2 SIX1 MSX1

Biological processes related to Branchiootic Syndrome according to GeneCards Suite gene sharing:

(show all 36)

#	Name	GO ID	Score	Top Affiliating Genes
1	regulation of transcription by RNA polymerase II	GO:0006357	10.62	ZNF597 SIX6 SIX5 SIX4 SIX2 SIX1
2	positive regulation of transcription by RNA polymerase II	GO:0045944	10.46	EYA1 FOXI1 MSX1 SALL1 SIX1 SIX2
3	chromatin organization	GO:0006325	10.34	ZNF462 EYA4 EYA3 EYA2 EYA1
4	regulation of DNA-templated transcription	GO:0006355	10.29	FOXI1 MSX1 SIX1 SIX2 SIX4 SIX5
5	kidney development	GO:0001822	10.22	SIX2 SIX1 SALL1 GREB1L
6	protein localization to nucleus	GO:0034504	10.1	SIX4 SIX1 MSX1
7	embryonic cranial skeleton morphogenesis	GO:0048701	10.02	SIX1 SIX2 SIX4
8	inner ear morphogenesis	GO:0042472	10.02	SIX4 SIX1 FOXI1 EYA1
9	branching involved in ureteric bud morphogenesis	GO:0001658	10.01	EYA1 GREB1L SALL1 SIX1
10	ureteric bud development	GO:0001657	10	SIX1 SALL1 EYA1
11	aorta morphogenesis	GO:0035909	9.97	SIX1 EYA1
12	pharyngeal system development	GO:0060037	9.97	SIX4 SIX1 EYA1
13	positive regulation of DNA repair	GO:0045739	9.97	EYA4 EYA3 EYA2 EYA1
14	generation of neurons	GO:0048699	9.96	SIX4 SIX1
15	myoblast migration	GO:0051451	9.96	SIX1 SIX4
16	metanephros development	GO:0001656	9.96	SIX2 GREB1L EYA1
17	metanephric mesenchyme development	GO:0072075	9.95	SIX4 SIX1
18	mesenchymal to epithelial transition involved in metanephros morphogenesis	GO:0003337	9.95	SIX2 SALL1
19	anatomical structure morphogenesis	GO:0009653	9.93	EYA1 EYA3 EYA4 FOXI1 SIX2 SIX4
20	negative regulation of extrinsic apoptotic signaling pathway in absence of ligand	GO:2001240	9.92	EYA4 EYA3 EYA2 EYA1
21	regulation of synaptic assembly at neuromuscular junction	GO:0008582	9.91	SIX1 SIX4
22	striated muscle tissue development	GO:0014706	9.91	EYA1 EYA2
23	embryonic skeletal system morphogenesis	GO:0048704	9.91	SIX4 SIX2 SIX1 EYA1
24	positive regulation of secondary heart field cardioblast proliferation	GO:0072513	9.89	SIX1 EYA1
25	positive regulation of ureteric bud formation	GO:0072107	9.88	SIX4 SIX1
26	trigeminal ganglion development	GO:0061551	9.88	SIX4 SIX1
27	myotome development	GO:0061055	9.87	SIX4 SIX1
28	regulation of branch elongation involved in ureteric bud branching	GO:0072095	9.84	SIX4 SIX1
29	tongue development	GO:0043586	9.83	SIX4 SIX1
30	olfactory placode formation	GO:0030910	9.83	SIX4 SIX1
31	histone modification	GO:0016570	9.82	EYA3 EYA2 EYA1
32	fungiform papilla morphogenesis	GO:0061197	9.81	SIX4 SIX1
33	otic vesicle development	GO:0071599	9.8	SIX1 EYA1
34	mesodermal cell fate specification	GO:0007501	9.73	SIX2 EYA2 EYA1
35	middle ear morphogenesis	GO:0042474	9.56	SIX2 SIX1 MSX1 EYA1
36	anatomical structure development	GO:0048856	9.32	SIX4 SIX1 EYA4 EYA3 EYA2 EYA1

Molecular functions related to Branchiootic Syndrome according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	DNA-binding transcription factor activity, RNA polymerase II-specific	GO:0000981	10.36	SIX6 SIX5 SIX4 SIX2 SIX1 SALL1
2	RNA polymerase II cis-regulatory region sequence-specific DNA binding	GO:0000978	10.34	FOXI1 SALL1 SIX1 SIX2 SIX4 SIX5
3	DNA binding	GO:0003677	10.18	ZNF597 ZNF462 SIX6 SIX5 SIX4 SIX2
4	sequence-specific double-stranded DNA binding	GO:1990837	10	FOXI1 MSX1 SIX1 SIX2 SIX4 SIX6
5	protein tyrosine phosphatase activity	GO:0004725	9.97	EYA1 EYA2 EYA3 EYA4
6	sequence-specific DNA binding	GO:0043565	9.86	SIX5 SIX4 SIX2 SIX1 MSX1 FOXI1
7	DNA-binding transcription activator activity, RNA polymerase II-specific	GO:0001228	9.8	ZNF597 SIX5 SIX4 SIX2 SIX1 MSX1
8	phosphoprotein phosphatase activity	GO:0004721	9.62	EYA4 EYA3 EYA2 EYA1
9	histone H2Y142 phosphatase activity	GO:0140793	9.1	EYA3 EYA2 EYA1

Sources

Sources for Branchiootic Syndrome

¹ BitterDB

² CDC

³ Cell Signaling Technology

⁴ ClinicalTrials

⁵ ClinVar

⁶ CNVD

⁷ Cochrane Library

⁸ Cosmic

⁹ dbSNP

¹⁰ DGIdb

¹¹ Disease Ontology

¹² diseasecard

¹³ DiseaseEnhancer

¹⁴ DISEASES

¹⁵ DrugBank

¹⁶ EFO

¹⁷ ExPASy

¹⁸ FMA

¹⁹ GARD

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ GenomeRNAi

²⁶ GEO DataSets

²⁷ GO

²⁸ GTR

²⁹ HMDB

³⁰ HPO

³¹ ICD10

³² ICD10 via Orphanet

³³ ICD11

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ LifeMap

³⁷ LncRNADisease

³⁸ LOVD

³⁹ MalaCards

⁴⁰ MedGen

⁴¹ MedlinePlus

⁴² MedlinePlus Genetics

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NINDS

⁵³ Novoseek

⁵⁴ Novus Biologicals

⁵⁵ ODiseA

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 08-Dec-2022)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubChem

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ WikiPathways

⁷⁵ Wikipedia

BOR MCID: BRN042 MIFTS: 43	Branchiootic Syndrome (BOR) Categories: Ear diseases, Fetal diseases, Genetic diseases, Nephrological diseases, Rare diseases	Data Licensing For inquiries, contact: [email protected]
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Branchiootic Syndrome (BOR)

Aliases & Classifications for Branchiootic Syndrome

MalaCards integrated aliases for Branchiootic Syndrome:

Characteristics:

Inheritance:

Age Of Onset:

Classifications:

External Ids:

Summaries for Branchiootic Syndrome

Related Diseases for Branchiootic Syndrome

Diseases in the Branchiootic Syndrome family:

Diseases related to Branchiootic Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

Graphical network of the top 20 diseases related to Branchiootic Syndrome:

Symptoms & Phenotypes for Branchiootic Syndrome

Human phenotypes related to Branchiootic Syndrome:

MGI Mouse Phenotypes related to Branchiootic Syndrome:

Drugs & Therapeutics for Branchiootic Syndrome

Cochrane evidence based reviews: branchiootic syndrome

Genetic Tests for Branchiootic Syndrome

Anatomical Context for Branchiootic Syndrome

Organs/tissues related to Branchiootic Syndrome:

Publications for Branchiootic Syndrome

Articles related to Branchiootic Syndrome:

Genes for Branchiootic Syndrome

Genes related to Branchiootic Syndrome (3 elite genes):

Variations for Branchiootic Syndrome

Expression for Branchiootic Syndrome

Pathways for Branchiootic Syndrome

Pathways related to Branchiootic Syndrome according to GeneCards Suite gene sharing:

GO Terms for Branchiootic Syndrome

Cellular components related to Branchiootic Syndrome according to GeneCards Suite gene sharing:

Biological processes related to Branchiootic Syndrome according to GeneCards Suite gene sharing:

Molecular functions related to Branchiootic Syndrome according to GeneCards Suite gene sharing:

Sources for Branchiootic Syndrome