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

BOR1 MCID: BRN131 MIFTS: 44	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 ⁵⁶ ¹² ⁷³ ¹⁵

Melnick-Fraser Syndrome ⁵⁶ ⁷³ ²⁹ ⁶

Bor1 ⁵⁶ ¹² ⁷³

Branchiootorenal Syndrome, with/without Cataract, Type 1 ³⁹

Branchiootorenal Syndrome 1, with or Without Cataracts ⁵⁶

Branchio-Oto-Renal Syndrome Type 1 ⁷³

Branchio-Oto-Renal Dysplasia 1 ⁷³

Branchiootorenal Dysplasia 1 ⁷³

Branchio-Oto-Renal Syndrome ⁷¹

Branchiootorenal Dysplasia ⁵⁶

Bor Syndrome 1 ⁷³

Characteristics:

OMIM:

⁵⁶

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 ⁵⁶ 113650

MeSH ⁴³ D019280

MedGen ⁴¹ C2936782 C4551702

UMLS ⁷¹ C0265234

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Summaries for Branchiootorenal Syndrome 1

OMIM : ⁵⁶ 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)

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

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.

Wikipedia : ⁷⁴ Branchio-oto-renal syndrome (BOR) , is an autosomal dominant genetic disorder involving the kidneys,... more...

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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 22)

#	Related Disease	Score	Top Affiliating Genes
1	branchiootorenal syndrome 2	32.5	SIX5 SIX1 EYA1
2	branchiootorenal syndrome	30.8	VTA1 SLC4A5 SIX5 SIX1 SCAMP1 NMUR2
3	branchiootorenal/branchiootic syndrome	11.3
4	branchiootic syndrome 1	11.3
5	fraser syndrome 1	10.7
6	branchiootorenal spectrum disorder	10.4	SIX5 SIX1 EYA1
7	papillorenal syndrome	10.3	SIX5 SIX1 EYA1
8	townes-brocks syndrome	10.3	SIX5 SIX1 EYA1
9	cakut	10.3	SIX5 SIX1 EYA1
10	kidney disease	10.3
11	vesicoureteral reflux 1	10.3	SIX5 SIX1 EYA1
12	intestinal impaction	10.3	SLC4A5 SLC4A4
13	nonsyndromic hearing loss	10.2	SIX1 GPSM2 EYA4
14	autosomal dominant nonsyndromic deafness	10.2	SIX1 EYA4 EYA1
15	deafness, autosomal dominant 10	10.2	SIX1 EYA4 EYA3 EYA1
16	corneal dystrophy, band-shaped	10.2	SLC4A5 SLC4A4
17	rare genetic deafness	10.1	GPSM2 EYA4 EYA1
18	cardiomyopathy, dilated, 1j	10.1	RIPPLY3 EYA4 EYA3 EYA1
19	cataract 14, multiple types	10.1	SLC4A5 SLC4A4
20	branchiootic syndrome	10.1	SIX5 SIX1 EYA4 EYA3 EYA1
21	malignant peripheral nerve sheath tumor	10.0	EYA4 EYA3 EYA1
22	hereditary hearing loss and deafness	10.0	EYA4 EYA1

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	microtia ³¹	very rare (1%)	HP:0008551
2	facial palsy ³¹	very rare (1%)	HP:0010628
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	microdontia ³¹		HP:0000691
10	high palate ³¹		HP:0000218
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:

⁵⁶

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

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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	Melnick-Fraser Syndrome ²⁹	EYA1 SIX1

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Anatomical Context for Branchiootorenal Syndrome 1

MalaCards organs/tissues related to Branchiootorenal Syndrome 1:

⁴⁰

Kidney, Skin, Eye, Testes

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Publications for Branchiootorenal Syndrome 1

Articles related to Branchiootorenal Syndrome 1:

(show top 50) (show all 51)

#	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. ⁵⁶ ⁶	Stockley TL...Papsin BC	19206155	2009
2	Stickler and branchio-oto-renal syndromes in a patient with mutations in EYA1 and COL2A1 genes. ⁶ ⁵⁶	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. ⁵⁶ ⁶	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. ⁵⁶ ⁶	Abdelhak S...Petit C	9020840	1997
5	HERV-mediated genomic rearrangement of EYA1 in an individual with branchio-oto-renal syndrome. ⁵⁶	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. ⁵⁶	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. ⁵⁶	Chang EH...Smith RJ	15146463	2004
9	Ear and kidney syndromes: molecular versus clinical approach. ⁵⁶	Izzedine H...Deray G	14717907	2004
10	Genomic rearrangements of EYA1 account for a large fraction of families with BOR syndrome. ⁵⁶	Vervoort VS...Schwartz CE	12404110	2002
11	Congenital cholesteatoma and malformations of the facial nerve: rare manifestations of the BOR syndrome. ⁵⁶	Graham GE...Allanson JE	10440824	1999
12	Branchiootorenal Spectrum Disorder ⁶	Smith RJH	20301554	1999
13	Identification of three novel mutations in human EYA1 protein associated with branchio-oto-renal syndrome. ⁶	Kumar S...Cremers CW	9603436	1998
14	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
15	Branchio-oto-renal syndrome: identification of novel mutations, molecular characterization, mutation distribution, and prospects for genetic testing. ⁶	Kumar S...Kimberling WJ	10464653	1997
16	Narrowing the genetic interval and yeast artificial chromosome map in the branchio-oto-renal region on chromosome 8q. ⁵⁶	Kumar S...Cremers CW	8808282	1996
17	Phenotypic manifestations of branchio-oto-renal syndrome. ⁵⁶	Chen A...Pembrey M	8533848	1995
18	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. ⁵⁶	Vincent C...Lacombe D	7849713	1994
19	Localization of branchio-oto-renal (BOR) syndrome to a 3 Mb region of chromosome 8q. ⁵⁶	Wang Y...Schwartz CE	8092198	1994
20	Refined localization of the branchiootorenal syndrome gene by linkage and haplotype analysis. ⁵⁶	Ni L...Smith RJ	8092199	1994
21	Localization of the gene for branchiootorenal syndrome to chromosome 8q. ⁵⁶	Smith RJ...Kimberling WJ	1478663	1992
22	A second-generation linkage map of the human genome. ⁵⁶	Weissenbach J...Lathrop M	1436057	1992
23	Autosomal dominant branchio-oto-renal syndrome--localization of a disease gene to chromosome 8q by linkage in a Dutch family. ⁵⁶	Kumar S...Cremers CW	1307249	1992
24	Branchio-oto-renal syndrome: further delineation of an underdiagnosed syndrome. ⁵⁶	Chitayat D...Sando I	1415348	1992
25	Branchio-oculo-facial and branchio-oto-renal syndromes are distinct entities. ⁵⁶	Lin AE...Lea D	1576761	1992
26	Dominant branchial cleft syndrome with characteristics of both branchio-oto-renal and branchio-oculo-facial syndrome. ⁵⁶	Legius E...Van den Berghe H	2354548	1990
27	Branchio-oto-renal syndrome: reduced penetrance and variable expressivity in four generations of a large kindred. ⁵⁶	Heimler A...Lieber E	3799714	1986
28	Branchio-oto-renal dysplasia in three families. ⁵⁶	Gimsing S...Dyrmose J	3740720	1986
29	Gustatory lacrimation in association with the branchio-oto-renal syndrome. ⁵⁶	Preisch JW...Ellis FD	4006277	1985
30	The branchio-oto-renal (BOR) syndrome: report of bilateral renal agenesis in three sibs. ⁵⁶	Carmi R...Bar-Ziv J	6846397	1983
31	Autosomal dominant duplication of the renal collecting system, hearing loss, and external ear anomalies: a new syndrome? ⁵⁶	Fraser FC...Sproule J	6859100	1983
32	Otological aspects of the earpit-deafness syndrome. ⁵⁶	Cremers CW...Marres EH	6973119	1981
33	The earpits-deafness syndrome. Clinical and genetic aspects. ⁵⁶	Cremers CW...Fikkers-Van Noord M	6964893	1980
34	Frequency of the branchio-oto-renal (BOR) syndrome in children with profound hearing loss. ⁵⁶	Fraser FC...Halal F	7468659	1980
35	Branchio-oto-renal dysplasia and branchio-oto dysplasia: two distinct autosomal dominant disorders. ⁵⁶	Melnick M...Sweeney A	657583	1978
36	Genetic aspects of the BOR syndrome--branchial fistulas, ear pits, hearing loss, and renal anomalies. ⁵⁶	Fraser FC...Nogrady B	263442	1978
37	Severe renal dysgenesis produced by a dominant gene. ⁵⁶	Fitch N...Srolovitz H	998578	1976
38	Familial branchio-oto-renal dysplasia: a new addition to the branchial arch syndromes. ⁵⁶	Melnick M...Yune H	1248162	1976
39	Familial hearing loss associated with branchial fistulas. ⁶	Rowley PT	5365063	1969
40	Genetic mutation of familial dilated cardiomyopathy based on next‑generation semiconductor sequencing. ⁶¹	Lin XF...Lin X	30221713	2018
41	Branchio-oto-renal syndrome. ⁶¹	Jalil J...Shafique M	24848399	2014
42	Branchio-oto-renal syndrome. ⁶¹	Garg A...Kumar A	19263692	2008
43	Quiz page April 2008: deafness, preauricular pits, and renal failure. BOR syndrome or Melnick-Fraser syndrome. ⁶¹	Zar T...Ranga KV	18371523	2008
44	Cochlear implantation in branchio-oto-renal syndrome - A surgical challenge. ⁶¹	Kameswaran M...Karthikeyan K	23120453	2007
45	Noncompaction in Melnick Fraser syndrome. ⁶¹	Stollberger C...Finsterer J	17669095	2007
46	Bradycardia with sevoflurane in siblings with Branchio-oto-renal syndrome. ⁶¹	Taylor MH...Wilton NC	17184439	2007
47	Melnick-Fraser syndrome. ⁶¹	Jayshree A...Matthai J	12466581	2002
48	Description of a large kindred with autosomal dominant inheritance of branchial arch anomalies, hearing loss, and ear pits, and exclusion of the branchio-oto-renal (BOR) syndrome gene locus (chromosome 8q13.3). ⁶¹	Stratakis CA...Rennert OM	9788564	1998
49	Branchio-oto-renal syndrome (BOR syndrome, Melnick-Fraser syndrome). ⁶¹	Olney AH...Kolodziej P	9557405	1998
50	Sonographic features of a dysplastic kidney in Melnick-Fraser syndrome. ⁶¹	Barzilai M...Ish-Shalom N	8010234	1994

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Genes for Branchiootorenal Syndrome 1

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

(show all 29)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	EYA1	EYA Transcriptional Coactivator And Phosphatase 1	Protein Coding	1324.86	Molecular basis known ⁵⁶ Pathogenic ⁶ Causative variation ⁷³ Genetic Tests ²⁹ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Variants (show sections)	10464653 10991693 9603436 (more) 20301554 9361030 9020840 18177466 16691597 5365063 19206155
2	SIX1	SIX Homeobox 1	Protein Coding	506.32	Pathogenic ⁶ Genetic Tests ²⁹ DISEASES inferred ¹⁵	20301554
3	NMUR2	Neuromedin U Receptor 2	Protein Coding	7.25	DISEASES inferred ¹⁵
4	ASIC4	Acid Sensing Ion Channel Subunit Family Member 4	Protein Coding	6.49	DISEASES inferred ¹⁵
5	SCAMP1	Secretory Carrier Membrane Protein 1	Protein Coding	6.24	DISEASES inferred ¹⁵
6	EYA3	EYA Transcriptional Coactivator And Phosphatase 3	Protein Coding	6.17	DISEASES inferred ¹⁵
7	GPSM2	G Protein Signaling Modulator 2	Protein Coding	6.11	DISEASES inferred ¹⁵
8	SIX5	SIX Homeobox 5	Protein Coding	6.06	DISEASES inferred ¹⁵
9	C19orf44	Chromosome 19 Open Reading Frame 44	Protein Coding	5.9	DISEASES inferred ¹⁵
10	NIP7	Nucleolar Pre-RRNA Processing Protein NIP7	Protein Coding	5.73	DISEASES inferred ¹⁵
11	VTA1	Vesicle Trafficking 1	Protein Coding	5.72	DISEASES inferred ¹⁵
12	EYA4	EYA Transcriptional Coactivator And Phosphatase 4	Protein Coding	5.67	DISEASES inferred ¹⁵
13	SLC4A5	Solute Carrier Family 4 Member 5	Protein Coding	5.66	DISEASES inferred ¹⁵
14	OR51G1	Olfactory Receptor Family 51 Subfamily G Member 1	Protein Coding	5.59	DISEASES inferred ¹⁵
15	SCAMP2	Secretory Carrier Membrane Protein 2	Protein Coding	5.48	DISEASES inferred ¹⁵
16	OR4N5	Olfactory Receptor Family 4 Subfamily N Member 5	Protein Coding	5.47	DISEASES inferred ¹⁵
17	NUP54	Nucleoporin 54	Protein Coding	5.45	DISEASES inferred ¹⁵
18	RIPPLY3	Ripply Transcriptional Repressor 3	Protein Coding	5.44	DISEASES inferred ¹⁵
19	SLC4A4	Solute Carrier Family 4 Member 4	Protein Coding	5.44	DISEASES inferred ¹⁵
20	TBC1D31	TBC1 Domain Family Member 31	Protein Coding	5.38	DISEASES inferred ¹⁵
21	SNX1	Sorting Nexin 1	Protein Coding	5.33	DISEASES inferred ¹⁵
22	TUBGCP2	Tubulin Gamma Complex Associated Protein 2	Protein Coding	5.31	DISEASES inferred ¹⁵
23	AP1M2	Adaptor Related Protein Complex 1 Subunit Mu 2	Protein Coding	5.26	DISEASES inferred ¹⁵
24	FUT3	Fucosyltransferase 3 (Lewis Blood Group)	Protein Coding	5.19	DISEASES inferred ¹⁵
25	CCDC138	Coiled-Coil Domain Containing 138	Protein Coding	5.18	DISEASES inferred ¹⁵
26	STK25	Serine/Threonine Kinase 25	Protein Coding	5.18	DISEASES inferred ¹⁵
27	NUP85	Nucleoporin 85	Protein Coding	5.18	DISEASES inferred ¹⁵
28	PROSER3	Proline And Serine Rich 3	Protein Coding	5.17	DISEASES inferred ¹⁵
29	SLC4A11	Solute Carrier Family 4 Member 11	Protein Coding	5.14	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 66) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	EYA1	NM_000503.6(EYA1):c.1684C>T (p.Gln562Ter)	SNV	Pathogenic	459253	rs1481254965	8:72123405-72123405	8:71211170-71211170
2	EYA1	NM_000503.6(EYA1):c.229C>T (p.Arg77Ter)	SNV	Pathogenic	459254	rs200164773	8:72234477-72234477	8:71322242-71322242
3	EYA1	NM_000503.6(EYA1):c.1044T>G (p.Tyr348Ter)	SNV	Pathogenic	522400	rs1554615511	8:72181981-72181981	8:71269746-71269746
4	EYA1	NM_000503.6(EYA1):c.682C>T (p.Gln228Ter)	SNV	Pathogenic	567492	rs1563422304	8:72211426-72211426	8:71299191-71299191
5	EYA1	NM_000503.6(EYA1):c.678C>A (p.Tyr226Ter)	SNV	Pathogenic	807414		8:72211430-72211430	8:71299195-71299195
6	EYA1	NC_000008.11:g.(?_71244583)_(71244712_?)del	deletion	Pathogenic	831405		8:72156818-72156947
7	EYA1	NC_000008.11:g.(?_71269720)_(71269843_?)del	deletion	Pathogenic	831168		8:72181955-72182078
8	EYA1	NC_000008.11:g.(?_71269720)_(71271917_?)del	deletion	Pathogenic	832783		8:72181955-72184152
9	EYA1	NM_000503.6(EYA1):c.1598-2A>G	SNV	Pathogenic	837632		8:72123493-72123493	8:71211258-71211258
10	EYA1	NM_000503.6(EYA1):c.1050+1G>T	SNV	Pathogenic	854287		8:72181974-72181974	8:71269739-71269739
11	EYA1	NM_000503.6(EYA1):c.966+5G>A	SNV	Pathogenic	7945	rs606231357	8:72183988-72183988	8:71271753-71271753
12	SIX1	NM_005982.4(SIX1):c.386A>G (p.Tyr129Cys)	SNV	Pathogenic	8308	rs104894478	14:61115522-61115522	14:60648804-60648804
13	SIX1	NM_005982.4(SIX1):c.317T>G (p.Val106Gly)	SNV	Pathogenic	65696	rs397515560	14:61115591-61115591	14:60648873-60648873
14	SIX1	NM_005982.4(SIX1):c.334C>T (p.Arg112Cys)	SNV	Pathogenic	65697	rs397515561	14:61115574-61115574	14:60648856-60648856
15	SIX1	NM_005982.4(SIX1):c.50T>A (p.Val17Glu)	SNV	Pathogenic	65698	rs397515562	14:61115858-61115858	14:60649140-60649140
16	EYA1	NM_000503.6(EYA1):c.1081C>T (p.Arg361Ter)	SNV	Pathogenic	7943	rs121909202	8:72156897-72156897	8:71244662-71244662
17	EYA1	NM_000503.6(EYA1):c.1514T>G (p.Leu505Arg)	SNV	Pathogenic	7941	rs121909201	8:72127705-72127705	8:71215470-71215470
18	EYA1	NM_000503.6(EYA1):c.1459T>C (p.Ser487Pro)	SNV	Pathogenic	7940	rs121909200	8:72127865-72127865	8:71215630-71215630
19	EYA1	EYA1, 1-BP INS, 387T	insertion	Pathogenic	7939
20	EYA1	NM_000503.6(EYA1):c.1319G>A (p.Arg440Gln)	SNV	Pathogenic	7935	rs121909196	8:72128968-72128968	8:71216733-71216733
21	EYA1	NM_000503.6(EYA1):c.1695_1698del (p.Lys565fs)	deletion	Pathogenic	7934	rs606231355	8:72123391-72123394	8:71211156-71211159
22	EYA1	EYA1, ALU INS, EX10	insertion	Pathogenic	7933
23	EYA1	EYA1, 1-BP DEL AND 2-BP INS, 1251T-CC	indel	Pathogenic	7930
24	EYA1	NM_000503.6(EYA1):c.922C>T (p.Arg308Ter)	SNV	Pathogenic	7929	rs121909195	8:72184037-72184037	8:71271802-71271802
25	EYA1	NM_000503.6(EYA1):c.470C>A (p.Ser157Ter)	SNV	Pathogenic	844683		8:72229873-72229873	8:71317638-71317638
26	EYA1	NM_000503.6(EYA1):c.806del (p.Ala269fs)	deletion	Pathogenic	856463		8:72211302-72211302	8:71299067-71299067
27	EYA1	NM_000503.6(EYA1):c.880C>T (p.Arg294Ter)	SNV	Pathogenic	834788		8:72184079-72184079	8:71271844-71271844
28	EYA1	NM_000503.6(EYA1):c.1186G>T (p.Gly396Ter)	SNV	Pathogenic	854280		8:72129213-72129213	8:71216978-71216978
29	EYA1	NM_000503.6(EYA1):c.1354_1355del (p.Val452fs)	deletion	Pathogenic	653122		8:72128932-72128933	8:71216697-71216698
30	EYA1	NM_000503.6(EYA1):c.1418_1421del (p.Ala473fs)	deletion	Pathogenic	657022		8:72127903-72127906	8:71215668-71215671
31	EYA1	NM_000503.6(EYA1):c.1200-1G>A	SNV	Pathogenic	578749	rs1563634200	8:72129088-72129088	8:71216853-71216853
32	EYA1	NC_000008.11:g.(?_71199320)_(71356506_?)del	deletion	Pathogenic	584228		8:72111555-72268741	8:71199320-71356506
33	EYA1	NM_000503.6(EYA1):c.532del (p.Ala178fs)	deletion	Pathogenic	528877	rs1554548840	8:72229811-72229811	8:71317576-71317576
34	EYA1	NM_000503.6(EYA1):c.1327_1328GA[1] (p.Glu443fs)	short repeat	Pathogenic	528876	rs1554596461	8:72128957-72128958	8:71216722-71216723
35	EYA1	NM_000503.6(EYA1):c.1013_1016del (p.Ser338fs)	deletion	Pathogenic	528874	rs1554615536	8:72182009-72182012	8:71269774-71269777
36	EYA1	NC_000008.11:g.(?_71244583)_(71322288_?)del	deletion	Pathogenic	528878		8:72156818-72234523	8:71244583-71322288
37	EYA1	NM_000503.6(EYA1):c.640-15_698del	deletion	Pathogenic	459256	rs1554541834	8:72211410-72211483	8:71299175-71299248
38	EYA1	NM_000503.6(EYA1):c.889C>T (p.Arg297Ter)	SNV	Pathogenic	429912	rs1131691667	8:72184070-72184070	8:71271835-71271835
39	EYA1	NM_000503.6(EYA1):c.1739T>G (p.Leu580Arg)	SNV	Likely pathogenic	644606		8:72111615-72111615	8:71199380-71199380
40	EYA1	NM_000503.6(EYA1):c.1748T>C (p.Leu583Pro)	SNV	Likely pathogenic	48106	rs397517920	8:72111606-72111606	8:71199371-71199371
41	EYA1	NM_000503.6(EYA1):c.1460C>A (p.Ser487Ter)	SNV	Likely pathogenic	812585		8:72127864-72127864	8:71215629-71215629
42	EYA1	NM_000503.6(EYA1):c.1615G>T (p.Glu539Ter)	SNV	Likely pathogenic	417930	rs1060499603	8:72123474-72123474	8:71211239-71211239
43	EYA1	NM_000503.6(EYA1):c.749_750insGTGT (p.Ser251fs)	insertion	Likely pathogenic	830006		8:72211358-72211359	8:71299123-71299124
44	EYA1	NM_000503.6(EYA1):c.1276G>A (p.Gly426Ser)	SNV	Conflicting interpretations of pathogenicity	7938	rs121909199	8:72129011-72129011	8:71216776-71216776
45	EYA1	NM_000503.6(EYA1):c.1699-8T>C	SNV	Conflicting interpretations of pathogenicity	194813	rs201537030	8:72111663-72111663	8:71199428-71199428
46	EYA1	NM_000503.6(EYA1):c.671G>T (p.Gly224Val)	SNV	Conflicting interpretations of pathogenicity	225350	rs201509408	8:72211437-72211437	8:71299202-71299202
47	EYA1	NM_000503.6(EYA1):c.403G>A (p.Gly135Ser)	SNV	Conflicting interpretations of pathogenicity	225351	rs747476629	8:72233984-72233984	8:71321749-71321749
48	EYA1	NM_000503.6(EYA1):c.121G>C (p.Glu41Gln)	SNV	Conflicting interpretations of pathogenicity	242914	rs561111097	8:72267020-72267020	8:71354785-71354785
49	EYA1	NM_000503.6(EYA1):c.164C>T (p.Thr55Met)	SNV	Conflicting interpretations of pathogenicity	178689	rs201434219	8:72246370-72246370	8:71334135-71334135
50	EYA1	NM_000503.6(EYA1):c.890G>A (p.Arg297Gln)	SNV	Conflicting interpretations of pathogenicity	363653	rs148647933	8:72184069-72184069	8:71271834-71271834

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

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Expression for Branchiootorenal Syndrome 1

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

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Pathways for Branchiootorenal Syndrome 1

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GO Terms for Branchiootorenal Syndrome 1

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

(show all 21)

#	Name	GO ID	Score	Top Affiliating Genes
1	multicellular organism development	GO:0007275	10.04	SIX5 SIX1 RIPPLY3 EYA4 EYA3 EYA1
2	sensory perception of sound	GO:0007605	9.75	SIX1 EYA4 EYA1
3	anatomical structure morphogenesis	GO:0009653	9.72	EYA4 EYA3 EYA1
4	sodium ion transport	GO:0006814	9.71	SLC4A5 SLC4A4 ASIC4
5	peptidyl-tyrosine dephosphorylation	GO:0035335	9.65	EYA4 EYA3 EYA1
6	sodium ion transmembrane transport	GO:0035725	9.61	SLC4A5 SLC4A4 ASIC4
7	inorganic anion transport	GO:0015698	9.6	SLC4A5 SLC4A4
8	anion transport	GO:0006820	9.59	SLC4A5 SLC4A4
9	regulation of intracellular pH	GO:0051453	9.58	SLC4A5 SLC4A4
10	cochlea morphogenesis	GO:0090103	9.56	SIX1 EYA1
11	negative regulation of extrinsic apoptotic signaling pathway in absence of ligand	GO:2001240	9.54	EYA4 EYA3 EYA1
12	middle ear morphogenesis	GO:0042474	9.52	SIX1 EYA1
13	post-Golgi vesicle-mediated transport	GO:0006892	9.51	SCAMP2 SCAMP1
14	neuron fate specification	GO:0048665	9.49	SIX1 EYA1
15	aorta morphogenesis	GO:0035909	9.46	SIX1 EYA1
16	positive regulation of DNA repair	GO:0045739	9.43	EYA4 EYA3 EYA1
17	otic vesicle development	GO:0071599	9.4	SIX1 EYA1
18	pharyngeal system development	GO:0060037	9.33	SIX1 RIPPLY3 EYA1
19	positive regulation of secondary heart field cardioblast proliferation	GO:0072513	9.32	SIX1 EYA1
20	histone dephosphorylation	GO:0016576	9.13	EYA4 EYA3 EYA1
21	anatomical structure development	GO:0048856	9.02	SIX5 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	9.5	EYA4 EYA3 EYA1
2	protein tyrosine phosphatase activity	GO:0004725	9.43	EYA4 EYA3 EYA1
3	anion transmembrane transporter activity	GO:0008509	9.16	SLC4A5 SLC4A4
4	inorganic anion exchanger activity	GO:0005452	8.96	SLC4A5 SLC4A4
5	sodium:bicarbonate symporter activity	GO:0008510	8.62	SLC4A5 SLC4A4

Sources

Sources for Branchiootorenal Syndrome 1

¹ BioSystems

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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:

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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

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