Branchiootorenal Syndrome 1 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

BOR1 MCID: BRN131 MIFTS: 45	Branchiootorenal Syndrome 1 (BOR1) Categories: Ear diseases, Fetal diseases, Genetic diseases, Nephrological diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Expand all tables

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Aliases & Classifications for Branchiootorenal Syndrome 1

MalaCards integrated aliases for Branchiootorenal Syndrome 1:

Name: Branchiootorenal Syndrome 1 ⁵⁷ ¹² ⁷³ ²⁹ ⁶ ¹⁵

Melnick-Fraser Syndrome ⁵⁷ ⁷³ ²⁹

Bor1 ⁵⁷ ¹² ⁷³

Branchiootorenal Syndrome, with/without Cataract, Type 1 ³⁹

Branchiootorenal Syndrome 1, with or Without Cataracts ⁵⁷

Branchio-Oto-Renal Syndrome Type 1 ⁷³

Branchio-Oto-Renal Dysplasia 1 ⁷³

Branchiootorenal Dysplasia 1 ⁷³

Branchio-Oto-Renal Syndrome ⁷¹

Branchiootorenal Dysplasia ⁵⁷

Bor Syndrome 1 ⁷³

Characteristics:

OMIM®:

⁵⁷ (Updated 05-Mar-2021)

Miscellaneous:
variable expressivity
incomplete penetrance
genetic heterogeneity (bor2, )
onset of hearing loss ranges from childhood to young adulthood
prevalence of 1 in 40,000
allelic disorder to branchiootic syndrome (bos1, ) and otofaciocervical syndrome

Inheritance:
autosomal dominant

HPO:

³¹

branchiootorenal syndrome 1:
Inheritance autosomal dominant inheritance heterogeneous
Onset and clinical course variable expressivity incomplete penetrance

Classifications:

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

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹² DOID:0111423

OMIM® ⁵⁷ 113650

MeSH ⁴⁴ D019280

MedGen ⁴¹ C2936782 C4551702

UMLS ⁷¹ C0265234

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Summaries for Branchiootorenal Syndrome 1

OMIM® : ⁵⁷ Branchiootorenal syndrome is an autosomal dominant disorder characterized by sensorineural, conductive, or mixed hearing loss, structural defects of the outer, middle, and inner ear, branchial fistulas or cysts, and renal abnormalities ranging from mild hypoplasia to complete absence. Reduced penetrance and variable expressivity has been observed (Fraser et al., 1978). (113650) (Updated 05-Mar-2021)

MalaCards based summary : Branchiootorenal Syndrome 1, also known as melnick-fraser syndrome, is related to branchiootorenal syndrome and branchiootorenal syndrome 2. An important gene associated with Branchiootorenal Syndrome 1 is EYA1 (EYA Transcriptional Coactivator And Phosphatase 1). Affiliated tissues include kidney, and related phenotypes are facial palsy and microtia

Disease Ontology : ¹² A branchiootorenal syndrome that has material basis in heterozygous mutation in EYA1 on chromosome 8q13.3.

UniProtKB/Swiss-Prot : ⁷³ Branchiootorenal syndrome 1: A syndrome characterized by branchial cleft fistulas or cysts, sensorineural and/or conductive hearing loss, pre-auricular pits, structural defects of the outer, middle or inner ear, and renal malformations.

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Related Diseases for Branchiootorenal Syndrome 1

Diseases in the Branchiootorenal Syndrome family:

Branchiootorenal Syndrome 1	Branchiootorenal Syndrome 2
Branchiootorenal Spectrum Disorder

Diseases related to Branchiootorenal Syndrome 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 28)

#	Related Disease	Score	Top Affiliating Genes
1	branchiootorenal syndrome	30.6	VTA1 SLC4A5 SLC4A4 SIX5 SIX4 SIX1
2	branchiootorenal syndrome 2	30.4	SIX5 SIX1 EYA1
3	branchiootorenal/branchiootic syndrome	11.1
4	branchiootic syndrome 1	11.0
5	fraser syndrome 1	10.5
6	lacrimal duct obstruction	10.3	SIX5 EYA1
7	eustachian tube disease	10.3	SIX1 EYA1
8	branchiootorenal spectrum disorder	10.3	SIX5 SIX1 EYA1
9	patulous eustachian tube	10.3	SIX1 EYA1
10	intestinal impaction	10.3	SLC4A5 SLC4A4
11	papillorenal syndrome	10.3	SIX5 SIX1 EYA1
12	townes-brocks syndrome	10.3	SIX5 SIX1 EYA1
13	vesicoureteral reflux 1	10.3	SIX5 SIX1 EYA1
14	cakut	10.3	SIX5 SIX1 EYA1
15	autosomal dominant nonsyndromic deafness	10.2	SIX1 EYA4 EYA1
16	cataract 14, multiple types	10.2	SLC4A8 SLC4A5
17	corneal dystrophy, band-shaped	10.2	SLC4A8 SLC4A5 SLC4A4
18	complex partial epilepsy	10.2	SLC4A8 SLC4A5
19	malignant peripheral nerve sheath tumor	10.2	SIX1 EYA4 EYA3 EYA1
20	renal hypodysplasia/aplasia 1	10.2	SIX5 SIX1 EYA1
21	congenital anomalies of kidney and urinary tract 2	10.2	SIX5 EYA1
22	kidney disease	10.1
23	deafness, autosomal dominant 10	10.1	SIX5 SIX1 EYA4 EYA3 EYA1
24	corneal dystrophy and perceptive deafness	10.1	SLC4A8 SLC4A4
25	cardiomyopathy, dilated, 1j	10.1	RIPPLY3 EYA4 EYA3 EYA1
26	hereditary hearing loss and deafness	10.0	EYA4 EYA1
27	generalized epilepsy with febrile seizures plus	9.9
28	branchiootic syndrome	9.9	SIX5 SIX4 SIX1 NIP7 EYA4 EYA3

Graphical network of the top 20 diseases related to Branchiootorenal Syndrome 1:

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Symptoms & Phenotypes for Branchiootorenal Syndrome 1

Human phenotypes related to Branchiootorenal Syndrome 1:

³¹ (show all 34)

#	Description	HPO Frequency	HPO Source Accession
1	facial palsy ³¹	very rare (1%)	HP:0010628
2	microtia ³¹	very rare (1%)	HP:0008551
3	stenosis of the external auditory canal ³¹	very rare (1%)	HP:0000402
4	preauricular pit ³¹	very rare (1%)	HP:0004467
5	cupped ear ³¹	very rare (1%)	HP:0000378
6	mixed hearing impairment ³¹	very rare (1%)	HP:0000410
7	lacrimal duct aplasia ³¹	very rare (1%)	HP:0007925
8	lacrimal duct stenosis ³¹	very rare (1%)	HP:0007678
9	high palate ³¹		HP:0000218
10	microdontia ³¹		HP:0000691
11	congenital hip dislocation ³¹		HP:0001374
12	narrow face ³¹		HP:0000275
13	vesicoureteral reflux ³¹		HP:0000076
14	preauricular skin tag ³¹		HP:0000384
15	lacrimation abnormality ³¹		HP:0000632
16	long face ³¹		HP:0000276
17	polycystic kidney dysplasia ³¹		HP:0000113
18	intestinal malrotation ³¹		HP:0002566
19	hypoplasia of the cochlea ³¹		HP:0008586
20	branchial cyst ³¹		HP:0009796
21	branchial fistula ³¹		HP:0009795
22	bifid uvula ³¹		HP:0000193
23	renal agenesis ³¹		HP:0000104
24	renal malrotation ³¹		HP:0004712
25	renal dysplasia ³¹		HP:0000110
26	dilatated internal auditory canal ³¹		HP:0004458
27	renal steatosis ³¹		HP:0000799
28	abnormal cerebral morphology ³¹		HP:0002060
29	euthyroid goiter ³¹		HP:0009798
30	overbite ³¹		HP:0011094
31	cholesteatoma ³¹		HP:0009797
32	incomplete partition of the cochlea type ii ³¹		HP:0000376
33	abnormal renal collecting system morphology ³¹		HP:0004742
34	gustatory lacrimation ³¹		HP:0100274

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 05-Mar-2021)

Head And Neck Mouth:
cleft palate
bifid uvula
overbite
gustatory lacrimation
high, arched palate

Head And Neck Face:
long, narrow face
facial nerve paralysis (10% of patients)

Head And Neck Neck:
branchial cleft fistulas or cysts, usually bilateral (50 to 60% of patients)

Genitourinary Ureters:
vesicoureteric reflux

Head And Neck Ears:
cochlear malformation
hearing loss (95% of patients)
sensorineural hearing loss (20% of patients)
conductive hearing loss (30% of patients)
mixed hearing loss (50% of patients)
more

Head And Neck Eyes:
lacrimal duct aplasia or stenosis (25% of patients)

Genitourinary Kidneys:
renal anomalies (67% of patients)
renal dysplasia/aplasia
renal collecting system anomalies
polycystic kidneys
abnormal rotation of the kidneys

Clinical features from OMIM®:

113650 (Updated 05-Mar-2021)

MGI Mouse Phenotypes related to Branchiootorenal Syndrome 1:

⁴⁶

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	hearing/vestibular/ear	MP:0005377	9.1	EYA1 EYA3 EYA4 SCAMP2 SIX1 SIX4

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Drugs & Therapeutics for Branchiootorenal Syndrome 1

Search Clinical Trials , NIH Clinical Center for Branchiootorenal Syndrome 1

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Genetic Tests for Branchiootorenal Syndrome 1

Genetic tests related to Branchiootorenal Syndrome 1:

#	Genetic test	Affiliating Genes
1	Branchiootorenal Syndrome 1 ²⁹	EYA1 SIX1
2	Melnick-Fraser Syndrome ²⁹

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Anatomical Context for Branchiootorenal Syndrome 1

MalaCards organs/tissues related to Branchiootorenal Syndrome 1:

⁴⁰

Kidney

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Publications for Branchiootorenal Syndrome 1

Articles related to Branchiootorenal Syndrome 1:

(show top 50) (show all 94)

#	Title	Authors	PMID	Year
1	A recurrent EYA1 mutation causing alternative RNA splicing in branchio-oto-renal syndrome: implications for molecular diagnostics and disease mechanism. ⁵⁷ ⁶	Stockley TL...Papsin BC	19206155	2009
2	Stickler and branchio-oto-renal syndromes in a patient with mutations in EYA1 and COL2A1 genes. ⁵⁷ ⁶	Olavarrieta L...Moreno-Pelayo MA	18177466	2008
3	Importance of clinical evaluation and molecular testing in the branchio-oto-renal (BOR) syndrome and overlapping phenotypes. ⁶ ⁵⁷	Rickard S...Bitner-Glindzicz M	10991693	2000
4	A human homologue of the Drosophila eyes absent gene underlies branchio-oto-renal (BOR) syndrome and identifies a novel gene family. ⁵⁷ ⁶	Abdelhak S...Petit C	9020840	1997
5	HERV-mediated genomic rearrangement of EYA1 in an individual with branchio-oto-renal syndrome. ⁵⁷	Sanchez-Valle A...Lalani SR	20979191	2010
6	Branchio-oto-renal syndrome (BOR): novel mutations in the EYA1 gene, and a review of the mutational genetics of BOR. ⁵⁷	Orten DJ...Kimberling WJ	18220287	2008
7	Identification of a novel EYA1 mutation presenting in a newborn with laryngomalacia, glossoptosis, retrognathia, and pectus excavatum. ⁶	Spruijt L...de Die-Smulders CE	16691597	2006
8	Branchio-oto-renal syndrome: the mutation spectrum in EYA1 and its phenotypic consequences. ⁵⁷	Chang EH...Smith RJ	15146463	2004
9	Ear and kidney syndromes: molecular versus clinical approach. ⁵⁷	Izzedine H...Deray G	14717907	2004
10	Genomic rearrangements of EYA1 account for a large fraction of families with BOR syndrome. ⁵⁷	Vervoort VS...Schwartz CE	12404110	2002
11	Congenital cholesteatoma and malformations of the facial nerve: rare manifestations of the BOR syndrome. ⁵⁷	Graham GE...Allanson JE	10440824	1999
12	Identification of three novel mutations in human EYA1 protein associated with branchio-oto-renal syndrome. ⁶	Kumar S...Cremers CW	9603436	1998
13	Clustering of mutations responsible for branchio-oto-renal (BOR) syndrome in the eyes absent homologous region (eyaHR) of EYA1. ⁶	Abdelhak S...Weil D	9361030	1997
14	Branchio-oto-renal syndrome: identification of novel mutations, molecular characterization, mutation distribution, and prospects for genetic testing. ⁶	Kumar S...Kimberling WJ	10464653	1997
15	Narrowing the genetic interval and yeast artificial chromosome map in the branchio-oto-renal region on chromosome 8q. ⁵⁷	Kumar S...Cremers CW	8808282	1996
16	Phenotypic manifestations of branchio-oto-renal syndrome. ⁵⁷	Chen A...Pembrey M	8533848	1995
17	A proposed new contiguous gene syndrome on 8q consists of Branchio-Oto-Renal (BOR) syndrome, Duane syndrome, a dominant form of hydrocephalus and trapeze aplasia; implications for the mapping of the BOR gene. ⁵⁷	Vincent C...Lacombe D	7849713	1994
18	Refined localization of the branchiootorenal syndrome gene by linkage and haplotype analysis. ⁵⁷	Ni L...Smith RJ	8092199	1994
19	Localization of branchio-oto-renal (BOR) syndrome to a 3 Mb region of chromosome 8q. ⁵⁷	Wang Y...Schwartz CE	8092198	1994
20	Localization of the gene for branchiootorenal syndrome to chromosome 8q. ⁵⁷	Smith RJ...Kimberling WJ	1478663	1992
21	Autosomal dominant branchio-oto-renal syndrome--localization of a disease gene to chromosome 8q by linkage in a Dutch family. ⁵⁷	Kumar S...Cremers CW	1307249	1992
22	A second-generation linkage map of the human genome. ⁵⁷	Weissenbach J...Lathrop M	1436057	1992
23	Branchio-oto-renal syndrome: further delineation of an underdiagnosed syndrome. ⁵⁷	Chitayat D...Sando I	1415348	1992
24	Branchio-oculo-facial and branchio-oto-renal syndromes are distinct entities. ⁵⁷	Lin AE...Lea D	1576761	1992
25	Dominant branchial cleft syndrome with characteristics of both branchio-oto-renal and branchio-oculo-facial syndrome. ⁵⁷	Legius E...Van den Berghe H	2354548	1990
26	Branchio-oto-renal syndrome: reduced penetrance and variable expressivity in four generations of a large kindred. ⁵⁷	Heimler A...Lieber E	3799714	1986
27	Branchio-oto-renal dysplasia in three families. ⁵⁷	Gimsing S...Dyrmose J	3740720	1986
28	Gustatory lacrimation in association with the branchio-oto-renal syndrome. ⁵⁷	Preisch JW...Ellis FD	4006277	1985
29	The branchio-oto-renal (BOR) syndrome: report of bilateral renal agenesis in three sibs. ⁵⁷	Carmi R...Bar-Ziv J	6846397	1983
30	Autosomal dominant duplication of the renal collecting system, hearing loss, and external ear anomalies: a new syndrome? ⁵⁷	Fraser FC...Sproule J	6859100	1983
31	Otological aspects of the earpit-deafness syndrome. ⁵⁷	Cremers CW...Marres EH	6973119	1981
32	The earpits-deafness syndrome. Clinical and genetic aspects. ⁵⁷	Cremers CW...Fikkers-Van Noord M	6964893	1980
33	Frequency of the branchio-oto-renal (BOR) syndrome in children with profound hearing loss. ⁵⁷	Fraser FC...Halal F	7468659	1980
34	Branchio-oto-renal dysplasia and branchio-oto dysplasia: two distinct autosomal dominant disorders. ⁵⁷	Melnick M...Sweeney A	657583	1978
35	Genetic aspects of the BOR syndrome--branchial fistulas, ear pits, hearing loss, and renal anomalies. ⁵⁷	Fraser FC...Nogrady B	263442	1978
36	Severe renal dysgenesis produced by a dominant gene. ⁵⁷	Fitch N...Srolovitz H	998578	1976
37	Familial branchio-oto-renal dysplasia: a new addition to the branchial arch syndromes. ⁵⁷	Melnick M...Yune H	1248162	1976
38	Familial hearing loss associated with branchial fistulas. ⁶	Rowley PT	5365063	1969
39	GNOM-dependent endocytosis maintains polar localisation of the borate exporter BOR1 in Arabidopsis. ⁶¹	Yoshinari A...Takano J	33443774	2021
40	Involvement of boron transporter BOR1 in growth under low boron and high nitrate conditions in Arabidopsis thaliana. ⁶¹	Wang Q...Fujiwara T	33090485	2020
41	Durvalumab activity in previously treated patients who stopped durvalumab without disease progression. ⁶¹	Sheth S...Soria JC	32847985	2020
42	Analysis of Endocytosis and Intracellular Trafficking of Boric Acid/Borate Transport Proteins in Arabidopsis. ⁶¹	Yoshinari A...Takano J	32632800	2020
43	Boron demanding tissues of Brassica napus express specific sets of functional Nodulin26-like Intrinsic Proteins and BOR1 transporters. ⁶¹	Diehn TA...Bienert GP	31148338	2019
44	Polar Localization of the Borate Exporter BOR1 Requires AP2-Dependent Endocytosis. ⁶¹	Yoshinari A...Takano J	30710051	2019
45	Two Pathways for Trafficking the Borate Receptor BOR1. ⁶¹	Larson ER	30940737	2019
46	Genetic mutation of familial dilated cardiomyopathy based on next‑generation semiconductor sequencing. ⁶¹	Lin XF...Lin X	30221713	2018
47	Boron-Dependent Translational Suppression of the Borate Exporter BOR1 Contributes to the Avoidance of Boron Toxicity. ⁶¹	Aibara I...Miwa K	29728453	2018
48	Adjusting Boron Transport by Two-Step Tuning of Levels of the Efflux Transporter BOR1. ⁶¹	Julkowska MM	29899052	2018
49	Preparing thin cross sections of Arabidopsis roots without embedding. ⁶¹	Sotta N...Fujiwara T	29235975	2017
50	The boron transporter BnaC4.BOR1;1c is critical for inflorescence development and fertility under boron limitation in Brassica napus. ⁶¹	Zhang Q...Xu F	28545156	2017

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Genes for Branchiootorenal Syndrome 1

Genes related to Branchiootorenal Syndrome 1 (2 elite genes):

(show all 28)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	EYA1	EYA Transcriptional Coactivator And Phosphatase 1	Protein Coding	1350.95	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative variation ⁷³ Genetic Tests ²⁹ Likely pathogenic ⁶ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Variants (show sections)	9020840
2	SIX1	SIX Homeobox 1	Protein Coding	514.17	Pathogenic ⁶ Genetic Tests ²⁹ DISEASES inferred ¹⁵ GeneCards inferred via : Variants (show sections)
3	SIX5	SIX Homeobox 5	Protein Coding	6.56	DISEASES inferred ¹⁵
4	ASIC4	Acid Sensing Ion Channel Subunit Family Member 4	Protein Coding	6.55	DISEASES inferred ¹⁵
5	SCAMP1	Secretory Carrier Membrane Protein 1	Protein Coding	6.29	DISEASES inferred ¹⁵
6	EYA3	EYA Transcriptional Coactivator And Phosphatase 3	Protein Coding	6.21	DISEASES inferred ¹⁵
7	C19orf44	Chromosome 19 Open Reading Frame 44	Protein Coding	5.98	DISEASES inferred ¹⁵
8	VTA1	Vesicle Trafficking 1	Protein Coding	5.81	DISEASES inferred ¹⁵
9	NIP7	Nucleolar Pre-RRNA Processing Protein NIP7	Protein Coding	5.77	DISEASES inferred ¹⁵
10	SLC4A5	Solute Carrier Family 4 Member 5	Protein Coding	5.72	DISEASES inferred ¹⁵
11	EYA4	EYA Transcriptional Coactivator And Phosphatase 4	Protein Coding	5.71	DISEASES inferred ¹⁵
12	SLC4A4	Solute Carrier Family 4 Member 4	Protein Coding	5.71	DISEASES inferred ¹⁵
13	OR51G1	Olfactory Receptor Family 51 Subfamily G Member 1	Protein Coding	5.62	DISEASES inferred ¹⁵
14	SCAMP2	Secretory Carrier Membrane Protein 2	Protein Coding	5.56	DISEASES inferred ¹⁵
15	SIX4	SIX Homeobox 4	Protein Coding	5.54	DISEASES inferred ¹⁵
16	SLC4A8	Solute Carrier Family 4 Member 8	Protein Coding	5.51	DISEASES inferred ¹⁵
17	NUP54	Nucleoporin 54	Protein Coding	5.5	DISEASES inferred ¹⁵
18	OR4N5	Olfactory Receptor Family 4 Subfamily N Member 5	Protein Coding	5.49	DISEASES inferred ¹⁵
19	RIPPLY3	Ripply Transcriptional Repressor 3	Protein Coding	5.48	DISEASES inferred ¹⁵
20	TBC1D31	TBC1 Domain Family Member 31	Protein Coding	5.43	DISEASES inferred ¹⁵
21	SNX1	Sorting Nexin 1	Protein Coding	5.38	DISEASES inferred ¹⁵
22	TUBGCP2	Tubulin Gamma Complex Associated Protein 2	Protein Coding	5.34	DISEASES inferred ¹⁵
23	AP1M2	Adaptor Related Protein Complex 1 Subunit Mu 2	Protein Coding	5.31	DISEASES inferred ¹⁵
24	FBLN7	Fibulin 7	Protein Coding	5.3	DISEASES inferred ¹⁵
25	EYA2	EYA Transcriptional Coactivator And Phosphatase 2	Protein Coding	5.3	DISEASES inferred ¹⁵
26	SLC4A1	Solute Carrier Family 4 Member 1 (Diego Blood Group)	Protein Coding	5.29	DISEASES inferred ¹⁵
27	CCDC138	Coiled-Coil Domain Containing 138	Protein Coding	5.25	DISEASES inferred ¹⁵
28	NUP85	Nucleoporin 85	Protein Coding	5.23	DISEASES inferred ¹⁵

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Variations for Branchiootorenal Syndrome 1

ClinVar genetic disease variations for Branchiootorenal Syndrome 1:

⁶ (show top 50) (show all 73)

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	EYA1	NM_000503.6(EYA1):c.922C>T (p.Arg308Ter)	SNV	Pathogenic	7929	rs121909195	8:72184037-72184037	8:71271802-71271802
2	EYA1	EYA1, 1-BP DEL AND 2-BP INS, 1251T-CC	Indel	Pathogenic	7930
3	EYA1	EYA1, ALU INS, EX10	Insertion	Pathogenic	7933
4	EYA1	NM_000503.6(EYA1):c.1695_1698del (p.Lys565fs)	Deletion	Pathogenic	7934	rs606231355	8:72123391-72123394	8:71211156-71211159
5	EYA1	NM_000503.6(EYA1):c.1319G>A (p.Arg440Gln)	SNV	Pathogenic	7935	rs121909196	8:72128968-72128968	8:71216733-71216733
6	EYA1	EYA1, 1-BP INS, 387T	Insertion	Pathogenic	7939
7	EYA1	NM_000503.6(EYA1):c.1459T>C (p.Ser487Pro)	SNV	Pathogenic	7940	rs121909200	8:72127865-72127865	8:71215630-71215630
8	EYA1	NM_000503.6(EYA1):c.1514T>G (p.Leu505Arg)	SNV	Pathogenic	7941	rs121909201	8:72127705-72127705	8:71215470-71215470
9	EYA1	NM_000503.6(EYA1):c.1081C>T (p.Arg361Ter)	SNV	Pathogenic	7943	rs121909202	8:72156897-72156897	8:71244662-71244662
10	EYA1	NM_000503.6(EYA1):c.966+5G>A	SNV	Pathogenic	7945	rs606231357	8:72183988-72183988	8:71271753-71271753
11	SIX1	NM_005982.4(SIX1):c.317T>G (p.Val106Gly)	SNV	Pathogenic	65696	rs397515560	14:61115591-61115591	14:60648873-60648873
12	SIX1	NM_005982.4(SIX1):c.334C>T (p.Arg112Cys)	SNV	Pathogenic	65697	rs397515561	14:61115574-61115574	14:60648856-60648856
13	SIX1	NM_005982.4(SIX1):c.386A>G (p.Tyr129Cys)	SNV	Pathogenic	8308	rs104894478	14:61115522-61115522	14:60648804-60648804
14	SIX1	NM_005982.4(SIX1):c.50T>A (p.Val17Glu)	SNV	Pathogenic	65698	rs397515562	14:61115858-61115858	14:60649140-60649140
15	EYA1	NM_000503.6(EYA1):c.640-15_698del	Deletion	Pathogenic	459256	rs1554541834	8:72211410-72211483	8:71299175-71299248
16	EYA1	NM_000503.6(EYA1):c.229C>T (p.Arg77Ter)	SNV	Pathogenic	459254	rs200164773	8:72234477-72234477	8:71322242-71322242
17	EYA1	NM_000503.6(EYA1):c.1327_1328GA[1] (p.Glu443fs)	Microsatellite	Pathogenic	528876	rs1554596461	8:72128957-72128958	8:71216722-71216723
18	EYA1	NM_000503.6(EYA1):c.532del (p.Ala178fs)	Deletion	Pathogenic	528877	rs1554548840	8:72229811-72229811	8:71317576-71317576
19	EYA1	NC_000008.11:g.(?_71244583)_(71322288_?)del	Deletion	Pathogenic	528878		8:72156818-72234523	8:71244583-71322288
20	EYA1	NM_000503.6(EYA1):c.682C>T (p.Gln228Ter)	SNV	Pathogenic	567492	rs1563422304	8:72211426-72211426	8:71299191-71299191
21	EYA1	NM_000503.6(EYA1):c.889C>T (p.Arg297Ter)	SNV	Pathogenic	429912	rs1131691667	8:72184070-72184070	8:71271835-71271835
22	EYA1	NM_000503.6(EYA1):c.1200-1G>A	SNV	Pathogenic	578749	rs1563634200	8:72129088-72129088	8:71216853-71216853
23	EYA1	NC_000008.11:g.(?_71199320)_(71356506_?)del	Deletion	Pathogenic	584228		8:72111555-72268741	8:71199320-71356506
24	EYA1	NM_000503.6(EYA1):c.1354_1355del (p.Val452fs)	Deletion	Pathogenic	653122	rs1585817892	8:72128932-72128933	8:71216697-71216698
25	EYA1	NM_000503.6(EYA1):c.1418_1421del (p.Ala473fs)	Deletion	Pathogenic	657022	rs1585812463	8:72127903-72127906	8:71215668-71215671
26	EYA1	NM_000503.6(EYA1):c.678C>A (p.Tyr226Ter)	SNV	Pathogenic	807414	rs529483320	8:72211430-72211430	8:71299195-71299195
27	EYA1	NC_000008.11:g.(?_71269720)_(71269843_?)del	Deletion	Pathogenic	831168		8:72181955-72182078
28	EYA1	NC_000008.11:g.(?_71244583)_(71244712_?)del	Deletion	Pathogenic	831405		8:72156818-72156947
29	EYA1	NC_000008.11:g.(?_71269720)_(71271917_?)del	Deletion	Pathogenic	832783		8:72181955-72184152
30	EYA1	NM_000503.6(EYA1):c.880C>T (p.Arg294Ter)	SNV	Pathogenic	834788		8:72184079-72184079	8:71271844-71271844
31	EYA1	NM_000503.6(EYA1):c.1598-2A>G	SNV	Pathogenic	837632		8:72123493-72123493	8:71211258-71211258
32	EYA1	NM_000503.6(EYA1):c.470C>A (p.Ser157Ter)	SNV	Pathogenic	844683		8:72229873-72229873	8:71317638-71317638
33	EYA1	NM_000503.6(EYA1):c.1186G>T (p.Gly396Ter)	SNV	Pathogenic	854280		8:72129213-72129213	8:71216978-71216978
34	EYA1	NM_000503.6(EYA1):c.1050+1G>T	SNV	Pathogenic	854287		8:72181974-72181974	8:71269739-71269739
35	EYA1	NM_000503.6(EYA1):c.806del (p.Ala269fs)	Deletion	Pathogenic	856463		8:72211302-72211302	8:71299067-71299067
36	EYA1	NM_000503.6(EYA1):c.1635del (p.Phe545fs)	Deletion	Pathogenic	945460		8:72123454-72123454	8:71211219-71211219
37	EYA1	NM_000503.6(EYA1):c.1140+1G>T	SNV	Pathogenic	952495		8:72156837-72156837	8:71244602-71244602
38	EYA1	NM_000503.6(EYA1):c.466C>T (p.Gln156Ter)	SNV	Pathogenic	957517		8:72229877-72229877	8:71317642-71317642
39	EYA1	NM_000503.6(EYA1):c.929del (p.Asn310fs)	Deletion	Pathogenic	974520		8:72184030-72184030	8:71271795-71271795
40	SIX1	NM_005982.4(SIX1):c.386A>G (p.Tyr129Cys)	SNV	Pathogenic	8308	rs104894478	14:61115522-61115522	14:60648804-60648804
41	EYA1	NM_000503.6(EYA1):c.1013_1016del (p.Ser338fs)	Deletion	Pathogenic	528874	rs1554615536	8:72182009-72182012	8:71269774-71269777
42	EYA1	NM_000503.6(EYA1):c.1684C>T (p.Gln562Ter)	SNV	Pathogenic	459253	rs1481254965	8:72123405-72123405	8:71211170-71211170
43	EYA1	NM_000503.6(EYA1):c.1044T>G (p.Tyr348Ter)	SNV	Pathogenic	522400	rs1554615511	8:72181981-72181981	8:71269746-71269746
44	EYA1	NM_000503.6(EYA1):c.1259del (p.Leu420fs)	Deletion	Pathogenic	975072		8:72129028-72129028	8:71216793-71216793
45	EYA1	NM_000503.6(EYA1):c.1433G>A (p.Trp478Ter)	SNV	Pathogenic	957904		8:72127891-72127891	8:71215656-71215656
46	EYA1	NM_000503.6(EYA1):c.1460C>A (p.Ser487Ter)	SNV	Likely pathogenic	812585	rs139717960	8:72127864-72127864	8:71215629-71215629
47	EYA1	NM_000503.6(EYA1):c.1615G>T (p.Glu539Ter)	SNV	Likely pathogenic	417930	rs1060499603	8:72123474-72123474	8:71211239-71211239
48	EYA1	NM_000503.6(EYA1):c.749_750insGTGT (p.Ser251fs)	Insertion	Likely pathogenic	830006	rs1586244371	8:72211358-72211359	8:71299123-71299124
49	EYA1	NM_000503.6(EYA1):c.1748T>C (p.Leu583Pro)	SNV	Likely pathogenic	48106	rs397517920	8:72111606-72111606	8:71199371-71199371
50	EYA1	NM_000503.6(EYA1):c.1739T>G (p.Leu580Arg)	SNV	Likely pathogenic	644606	rs1585717154	8:72111615-72111615	8:71199380-71199380

UniProtKB/Swiss-Prot genetic disease variations for Branchiootorenal Syndrome 1:

⁷³ (show all 12)

#	Symbol	AA change	Variation ID	SNP ID
1	EYA1	p.Ser487Pro	VAR_005203	rs121909200
2	EYA1	p.Leu505Arg	VAR_005204	rs121909201
3	EYA1	p.Gly426Ser	VAR_016865	rs121909199
4	EYA1	p.Asp429Gly	VAR_016866
5	EYA1	p.Arg440Gln	VAR_016867	rs121909196
6	EYA1	p.Leu583Pro	VAR_016869	rs397517920
7	EYA1	p.Pro95Ser	VAR_064942
8	EYA1	p.Gly140Ser	VAR_064943
9	EYA1	p.Glu363Val	VAR_064944
10	EYA1	p.Leu514Pro	VAR_064945	rs112340154
11	EYA1	p.Tyr527Cys	VAR_064946
12	EYA1	p.Met569Thr	VAR_064947

Sources

Expression for Branchiootorenal Syndrome 1

Search GEO for disease gene expression data for Branchiootorenal Syndrome 1.

Sources

Pathways for Branchiootorenal Syndrome 1

Sources

GO Terms for Branchiootorenal Syndrome 1

Cellular components related to Branchiootorenal Syndrome 1 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	transcription factor complex	GO:0005667	8.92	SIX5 SIX4 SIX1 EYA3

Biological processes related to Branchiootorenal Syndrome 1 according to GeneCards Suite gene sharing:

(show all 38)

#	Name	GO ID	Score	Top Affiliating Genes
1	multicellular organism development	GO:0007275	10.16	SIX5 SIX4 SIX1 RIPPLY3 EYA4 EYA3
2	anatomical structure morphogenesis	GO:0009653	9.86	SIX4 EYA4 EYA3 EYA1
3	sensory perception of sound	GO:0007605	9.85	SIX1 EYA4 EYA1
4	sodium ion transport	GO:0006814	9.85	SLC4A8 SLC4A5 SLC4A4 ASIC4
5	peptidyl-tyrosine dephosphorylation	GO:0035335	9.82	EYA4 EYA3 EYA1
6	inner ear morphogenesis	GO:0042472	9.78	SIX4 SIX1 EYA1
7	embryonic skeletal system morphogenesis	GO:0048704	9.77	SIX4 SIX1 EYA1
8	bicarbonate transport	GO:0015701	9.76	SLC4A8 SLC4A5 SLC4A4
9	negative regulation of extrinsic apoptotic signaling pathway in absence of ligand	GO:2001240	9.71	EYA4 EYA3 EYA1
10	sodium ion transmembrane transport	GO:0035725	9.71	SLC4A8 SLC4A5 SLC4A4 ASIC4
11	inorganic anion transport	GO:0015698	9.68	SLC4A5 SLC4A4
12	cochlea morphogenesis	GO:0090103	9.67	SIX1 EYA1
13	middle ear morphogenesis	GO:0042474	9.67	SIX1 EYA1
14	post-Golgi vesicle-mediated transport	GO:0006892	9.66	SCAMP2 SCAMP1
15	positive regulation of branching involved in ureteric bud morphogenesis	GO:0090190	9.66	SIX4 SIX1
16	neuron fate specification	GO:0048665	9.65	SIX1 EYA1
17	aorta morphogenesis	GO:0035909	9.65	SIX1 EYA1
18	positive regulation of DNA repair	GO:0045739	9.65	EYA4 EYA3 EYA1
19	regulation of epithelial cell proliferation	GO:0050678	9.64	SIX4 SIX1
20	generation of neurons	GO:0048699	9.64	SIX4 SIX1
21	tongue development	GO:0043586	9.63	SIX4 SIX1
22	myoblast migration	GO:0051451	9.63	SIX4 SIX1
23	regulation of intracellular pH	GO:0051453	9.63	SLC4A8 SLC4A5 SLC4A4
24	metanephric mesenchyme development	GO:0072075	9.62	SIX4 SIX1
25	otic vesicle development	GO:0071599	9.61	SIX1 EYA1
26	anion transport	GO:0006820	9.61	SLC4A8 SLC4A5 SLC4A4
27	regulation of synaptic growth at neuromuscular junction	GO:0008582	9.59	SIX4 SIX1
28	positive regulation of ureteric bud formation	GO:0072107	9.58	SIX4 SIX1
29	trigeminal ganglion development	GO:0061551	9.57	SIX4 SIX1
30	positive regulation of secondary heart field cardioblast proliferation	GO:0072513	9.52	SIX1 EYA1
31	myotome development	GO:0061055	9.51	SIX4 SIX1
32	olfactory placode formation	GO:0030910	9.49	SIX4 SIX1
33	ion homeostasis	GO:0050801	9.43	SLC4A8 SLC4A5 SLC4A4
34	regulation of branch elongation involved in ureteric bud branching	GO:0072095	9.37	SIX4 SIX1
35	histone dephosphorylation	GO:0016576	9.33	EYA4 EYA3 EYA1
36	fungiform papilla morphogenesis	GO:0061197	9.32	SIX4 SIX1
37	pharyngeal system development	GO:0060037	9.26	SIX4 SIX1 RIPPLY3 EYA1
38	anatomical structure development	GO:0048856	9.02	SIX4 SIX1 EYA4 EYA3 EYA1

Molecular functions related to Branchiootorenal Syndrome 1 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	phosphoprotein phosphatase activity	GO:0004721	9.58	EYA4 EYA3 EYA1
2	protein tyrosine phosphatase activity	GO:0004725	9.5	EYA4 EYA3 EYA1
3	anion:anion antiporter activity	GO:0015301	9.37	SLC4A8 SLC4A5
4	anion transmembrane transporter activity	GO:0008509	9.33	SLC4A8 SLC4A5 SLC4A4
5	sodium ion transmembrane transporter activity	GO:0015081	9.26	SLC4A8 ASIC4
6	inorganic anion exchanger activity	GO:0005452	9.13	SLC4A8 SLC4A5 SLC4A4
7	sodium:bicarbonate symporter activity	GO:0008510	8.8	SLC4A8 SLC4A5 SLC4A4

Sources

Sources for Branchiootorenal Syndrome 1

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

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²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

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²⁷ GEO DataSets

²⁸ GO

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³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

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³⁸ LncRNADisease

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⁴⁰ MalaCards

⁴¹ MedGen

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⁴⁴ MeSH

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⁴⁸ NCBI Bookshelf

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⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 05-Mar-2021)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

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⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ TGDB

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia

Branchiootorenal Syndrome 1 (BOR1)

Aliases & Classifications for Branchiootorenal Syndrome 1

MalaCards integrated aliases for Branchiootorenal Syndrome 1:

Characteristics:

OMIM®:

HPO:

Classifications:

External Ids:

Summaries for Branchiootorenal Syndrome 1

Related Diseases for Branchiootorenal Syndrome 1

Diseases in the Branchiootorenal Syndrome family:

Diseases related to Branchiootorenal Syndrome 1 via text searches within MalaCards or GeneCards Suite gene sharing:

Graphical network of the top 20 diseases related to Branchiootorenal Syndrome 1:

Symptoms & Phenotypes for Branchiootorenal Syndrome 1

Human phenotypes related to Branchiootorenal Syndrome 1:

Symptoms via clinical synopsis from OMIM®:

Clinical features from OMIM®:

MGI Mouse Phenotypes related to Branchiootorenal Syndrome 1:

Drugs & Therapeutics for Branchiootorenal Syndrome 1

Genetic Tests for Branchiootorenal Syndrome 1

Genetic tests related to Branchiootorenal Syndrome 1:

Anatomical Context for Branchiootorenal Syndrome 1

MalaCards organs/tissues related to Branchiootorenal Syndrome 1:

Publications for Branchiootorenal Syndrome 1

Articles related to Branchiootorenal Syndrome 1:

Genes for Branchiootorenal Syndrome 1

Genes related to Branchiootorenal Syndrome 1 (2 elite genes):

Variations for Branchiootorenal Syndrome 1

ClinVar genetic disease variations for Branchiootorenal Syndrome 1:

UniProtKB/Swiss-Prot genetic disease variations for Branchiootorenal Syndrome 1:

Expression for Branchiootorenal Syndrome 1

Pathways for Branchiootorenal Syndrome 1

GO Terms for Branchiootorenal Syndrome 1

Cellular components related to Branchiootorenal Syndrome 1 according to GeneCards Suite gene sharing:

Biological processes related to Branchiootorenal Syndrome 1 according to GeneCards Suite gene sharing:

Molecular functions related to Branchiootorenal Syndrome 1 according to GeneCards Suite gene sharing:

Sources for Branchiootorenal Syndrome 1