BOR1
MCID: BRN131
MIFTS: 41

Branchiootorenal Syndrome 1 (BOR1)

Categories: Ear diseases, Fetal diseases, Genetic diseases, Nephrological diseases, Rare diseases

Aliases & Classifications for Branchiootorenal Syndrome 1

MalaCards integrated aliases for Branchiootorenal Syndrome 1:

Name: Branchiootorenal Syndrome 1 58 76
Melnick-Fraser Syndrome 58 76 30 6
Bor1 58 76
Branchiootorenal Syndrome, with/without Cataract, Type 1 41
Branchiootorenal Syndrome 1, with or Without Cataracts 58
Branchio-Oto-Renal Syndrome Type 1 76
Branchio-Oto-Renal Dysplasia 1 76
Branchiootorenal Dysplasia 1 76
Branchio-Oto-Renal Syndrome 74
Branchiootorenal Dysplasia 58
Bor Syndrome 1 76

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

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


HPO:

33
branchiootorenal syndrome 1:
Onset and clinical course variable expressivity incomplete penetrance
Inheritance heterogeneous autosomal dominant inheritance


Classifications:



Summaries for Branchiootorenal Syndrome 1

OMIM : 58 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 and branchiootorenal syndrome 2. An important gene associated with Branchiootorenal Syndrome 1 is EYA1 (EYA Transcriptional Coactivator And Phosphatase 1), and among its related pathways/superpathways is Transcriptional misregulation in cancer. The drug Boron has been mentioned in the context of this disorder. Affiliated tissues include kidney, skin and testes, and related phenotypes are facial palsy and microtia

UniProtKB/Swiss-Prot : 76 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 : 77 Branchio-oto-renal syndrome (BOR), also known as branchiootorenal syndrome or BOR syndrome, is an... more...

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:

# Related Disease Score Top Affiliating Genes
1 branchiootorenal syndrome 31.6 EYA1 SIX1
2 branchiootorenal syndrome 2 11.2
3 branchiootorenal/branchiootic syndrome 11.2
4 branchiootic syndrome 1 11.2
5 fraser syndrome 1 10.7
6 deafness, autosomal dominant 23 9.7 EYA1 SIX1
7 lacrimal duct obstruction 9.7 EYA1 SIX1
8 deafness, autosomal dominant 10 9.6 EYA1 SIX1
9 branchiootic syndrome 9.5 EYA1 SIX1

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



Diseases related to Branchiootorenal Syndrome 1

Symptoms & Phenotypes for Branchiootorenal Syndrome 1

Human phenotypes related to Branchiootorenal Syndrome 1:

33 (show all 35)
# Description HPO Frequency HPO Source Accession
1 facial palsy 33 very rare (1%) HP:0010628
2 microtia 33 very rare (1%) HP:0008551
3 stenosis of the external auditory canal 33 very rare (1%) HP:0000402
4 preauricular pit 33 very rare (1%) HP:0004467
5 cupped ear 33 very rare (1%) HP:0000378
6 mixed hearing impairment 33 very rare (1%) HP:0000410
7 lacrimal duct stenosis 33 very rare (1%) HP:0007678
8 lacrimal duct aplasia 33 very rare (1%) HP:0007925
9 high palate 33 HP:0000218
10 cleft palate 33 HP:0000175
11 microdontia 33 HP:0000691
12 congenital hip dislocation 33 HP:0001374
13 polycystic kidney dysplasia 33 HP:0000113
14 narrow face 33 HP:0000275
15 vesicoureteral reflux 33 HP:0000076
16 long face 33 HP:0000276
17 intestinal malrotation 33 HP:0002566
18 lacrimation abnormality 33 HP:0000632
19 preauricular skin tag 33 HP:0000384
20 hypoplasia of the cochlea 33 HP:0008586
21 branchial cyst 33 HP:0009796
22 bifid uvula 33 HP:0000193
23 branchial fistula 33 HP:0009795
24 renal agenesis 33 HP:0000104
25 renal dysplasia 33 HP:0000110
26 renal malrotation 33 HP:0004712
27 dilatated internal auditory canal 33 HP:0004458
28 euthyroid goiter 33 HP:0009798
29 renal steatosis 33 HP:0000799
30 abnormality of the cerebrum 33 HP:0002060
31 overbite 33 HP:0011094
32 gustatory lacrimation 33 HP:0100274
33 cholesteatoma 33 HP:0009797
34 incomplete partition of the cochlea type ii 33 HP:0000376
35 abnormal renal collecting system morphology 33 HP:0004742

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Mouth:
cleft palate
bifid uvula
overbite
high, arched palate
gustatory lacrimation

Head And Neck Ears:
hearing loss (95% of patients)
sensorineural hearing loss (20% of patients)
conductive hearing loss (30% of patients)
mixed hearing loss (50% of patients)
preauricular pits (70-80% of patients)
more
Head And Neck Neck:
branchial cleft fistulas or cysts, usually bilateral (50 to 60% of patients)

Genitourinary Ureters:
vesicoureteric reflux

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

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

GenomeRNAi Phenotypes related to Branchiootorenal Syndrome 1 according to GeneCards Suite gene sharing:

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased Nanog expression GR00371-A-1 8.8 EYA1 SIX1
2 Increased Nanog expression GR00371-A-5 8.8 EYA1

Drugs & Therapeutics for Branchiootorenal Syndrome 1

Drugs for Branchiootorenal Syndrome 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Boron Experimental 7440-42-8

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Relation of Blood-boron Levels With Body Mass Index Unknown status NCT01400061

Search NIH Clinical Center for Branchiootorenal Syndrome 1

Genetic Tests for Branchiootorenal Syndrome 1

Genetic tests related to Branchiootorenal Syndrome 1:

# Genetic test Affiliating Genes
1 Melnick-Fraser Syndrome 30 EYA1 SIX1

Anatomical Context for Branchiootorenal Syndrome 1

MalaCards organs/tissues related to Branchiootorenal Syndrome 1:

42
Kidney, Skin, Testes, Eye

Publications for Branchiootorenal Syndrome 1

Articles related to Branchiootorenal Syndrome 1:

(show all 15)
# Title Authors Year
1
A recurrent EYA1 mutation causing alternative RNA splicing in branchio-oto-renal syndrome: implications for molecular diagnostics and disease mechanism. ( 19206155 )
2009
2
Quiz page April 2008: deafness, preauricular pits, and renal failure. BOR syndrome or Melnick-Fraser syndrome. ( 18371523 )
2008
3
Stickler and branchio-oto-renal syndromes in a patient with mutations in EYA1 and COL2A1 genes. ( 18177466 )
2008
4
Noncompaction in Melnick Fraser syndrome. ( 17669095 )
2007
5
Identification of a novel EYA1 mutation presenting in a newborn with laryngomalacia, glossoptosis, retrognathia, and pectus excavatum. ( 16691597 )
2006
6
Melnick-Fraser syndrome. ( 12466581 )
2002
7
Importance of clinical evaluation and molecular testing in the branchio-oto-renal (BOR) syndrome and overlapping phenotypes. ( 10991693 )
2000
8
Branchio-oto-renal syndrome (BOR syndrome, Melnick-Fraser syndrome). ( 9557405 )
1998
9
Identification of three novel mutations in human EYA1 protein associated with branchio-oto-renal syndrome. ( 9603436 )
1998
10
Branchio-oto-renal syndrome: identification of novel mutations, molecular characterization, mutation distribution, and prospects for genetic testing. ( 10464653 )
1997
11
Clustering of mutations responsible for branchio-oto-renal (BOR) syndrome in the eyes absent homologous region (eyaHR) of EYA1. ( 9361030 )
1997
12
A human homologue of the Drosophila eyes absent gene underlies branchio-oto-renal (BOR) syndrome and identifies a novel gene family. ( 9020840 )
1997
13
Melnick-Fraser syndrome. ( 8003778 )
1994
14
Sonographic features of a dysplastic kidney in Melnick-Fraser syndrome. ( 8010234 )
1994
15
Familial hearing loss associated with branchial fistulas. ( 5365063 )
1969

Variations for Branchiootorenal Syndrome 1

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

76 (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

ClinVar genetic disease variations for Branchiootorenal Syndrome 1:

6 (show top 50) (show all 97)
# Gene Variation Type Significance SNP ID Assembly Location
1 EYA1 NM_000503.5(EYA1): c.966+5G> A single nucleotide variant Pathogenic rs606231357 GRCh38 Chromosome 8, 71271753: 71271753
2 EYA1 NM_000503.5(EYA1): c.966+5G> A single nucleotide variant Pathogenic rs606231357 GRCh37 Chromosome 8, 72183988: 72183988
3 EYA1 NM_000503.5(EYA1): c.1122delA (p.Leu374Phefs) deletion Pathogenic rs397517916 GRCh37 Chromosome 8, 72156856: 72156856
4 EYA1 NM_000503.5(EYA1): c.1122delA (p.Leu374Phefs) deletion Pathogenic rs397517916 GRCh38 Chromosome 8, 71244621: 71244621
5 EYA1 NM_000503.5(EYA1): c.1361-1G> T single nucleotide variant Pathogenic rs397517917 GRCh37 Chromosome 8, 72127964: 72127964
6 EYA1 NM_000503.5(EYA1): c.1361-1G> T single nucleotide variant Pathogenic rs397517917 GRCh38 Chromosome 8, 71215729: 71215729
7 EYA1 NM_000503.5(EYA1): c.1579T> A (p.Tyr527Asn) single nucleotide variant Likely pathogenic rs397517918 GRCh37 Chromosome 8, 72127640: 72127640
8 EYA1 NM_000503.5(EYA1): c.1579T> A (p.Tyr527Asn) single nucleotide variant Likely pathogenic rs397517918 GRCh38 Chromosome 8, 71215405: 71215405
9 EYA1 NM_000503.5(EYA1): c.1697_1698insT (p.Lys566Asnfs) insertion Pathogenic rs397517919 GRCh37 Chromosome 8, 72123391: 72123392
10 EYA1 NM_000503.5(EYA1): c.1697_1698insT (p.Lys566Asnfs) insertion Pathogenic rs397517919 GRCh38 Chromosome 8, 71211156: 71211157
11 EYA1 NM_000503.5(EYA1): c.1748T> C (p.Leu583Pro) single nucleotide variant Likely pathogenic rs397517920 GRCh37 Chromosome 8, 72111606: 72111606
12 EYA1 NM_000503.5(EYA1): c.1748T> C (p.Leu583Pro) single nucleotide variant Likely pathogenic rs397517920 GRCh38 Chromosome 8, 71199371: 71199371
13 SIX1 NM_005982.3(SIX1): c.317T> G (p.Val106Gly) single nucleotide variant Pathogenic rs397515560 GRCh37 Chromosome 14, 61115591: 61115591
14 SIX1 NM_005982.3(SIX1): c.317T> G (p.Val106Gly) single nucleotide variant Pathogenic rs397515560 GRCh38 Chromosome 14, 60648873: 60648873
15 SIX1 NM_005982.3(SIX1): c.334C> T (p.Arg112Cys) single nucleotide variant Pathogenic rs397515561 GRCh37 Chromosome 14, 61115574: 61115574
16 SIX1 NM_005982.3(SIX1): c.334C> T (p.Arg112Cys) single nucleotide variant Pathogenic rs397515561 GRCh38 Chromosome 14, 60648856: 60648856
17 SIX1 NM_005982.3(SIX1): c.50T> A (p.Val17Glu) single nucleotide variant Pathogenic rs397515562 GRCh37 Chromosome 14, 61115858: 61115858
18 SIX1 NM_005982.3(SIX1): c.50T> A (p.Val17Glu) single nucleotide variant Pathogenic rs397515562 GRCh38 Chromosome 14, 60649140: 60649140
19 EYA1 NM_000503.5(EYA1): c.1475+1G> C single nucleotide variant Pathogenic rs727503042 GRCh37 Chromosome 8, 72127848: 72127848
20 EYA1 NM_000503.5(EYA1): c.1475+1G> C single nucleotide variant Pathogenic rs727503042 GRCh38 Chromosome 8, 71215613: 71215613
21 EYA1 NM_000503.5(EYA1): c.840C> A (p.Ile280=) single nucleotide variant Benign/Likely benign rs55972891 GRCh37 Chromosome 8, 72184119: 72184119
22 EYA1 NM_000503.5(EYA1): c.840C> A (p.Ile280=) single nucleotide variant Benign/Likely benign rs55972891 GRCh38 Chromosome 8, 71271884: 71271884
23 EYA1 NM_172058.3(EYA1): c.(?_1598)-56_*(1968_?)del deletion Pathogenic GRCh37 Chromosome 8, 72109607: 72123547
24 EYA1 NM_172058.3(EYA1): c.(?_1598)-56_*(1968_?)del deletion Pathogenic GRCh38 Chromosome 8, 71197372: 71211312
25 EYA1 NM_000503.5(EYA1): c.1090G> T (p.Glu364Ter) single nucleotide variant Pathogenic rs876657689 GRCh38 Chromosome 8, 71244653: 71244653
26 EYA1 NM_000503.5(EYA1): c.1090G> T (p.Glu364Ter) single nucleotide variant Pathogenic rs876657689 GRCh37 Chromosome 8, 72156888: 72156888
27 EYA1 NM_000503.5(EYA1): c.896C> A (p.Ser299Ter) single nucleotide variant Pathogenic rs876657691 GRCh37 Chromosome 8, 72184063: 72184063
28 EYA1 NM_000503.5(EYA1): c.896C> A (p.Ser299Ter) single nucleotide variant Pathogenic rs876657691 GRCh38 Chromosome 8, 71271828: 71271828
29 EYA1 NM_000503.5(EYA1): c.396_406delGCCGTACGGCA (p.Gln132Hisfs) deletion Pathogenic rs876657690 GRCh38 Chromosome 8, 71321746: 71321756
30 EYA1 NM_000503.5(EYA1): c.396_406delGCCGTACGGCA (p.Gln132Hisfs) deletion Pathogenic rs876657690 GRCh37 Chromosome 8, 72233981: 72233991
31 EYA1 NM_000503.5(EYA1): c.241C> T (p.Gln81Ter) single nucleotide variant Pathogenic rs1554550637 GRCh37 Chromosome 8, 72234465: 72234465
32 EYA1 NM_000503.5(EYA1): c.241C> T (p.Gln81Ter) single nucleotide variant Pathogenic rs1554550637 GRCh38 Chromosome 8, 71322230: 71322230
33 EYA1 NM_000503.5(EYA1): c.532delG (p.Ala178Hisfs) deletion Pathogenic rs1554548840 GRCh37 Chromosome 8, 72229811: 72229811
34 EYA1 NM_000503.5(EYA1): c.532delG (p.Ala178Hisfs) deletion Pathogenic rs1554548840 GRCh38 Chromosome 8, 71317576: 71317576
35 EYA1 NM_000503.5(EYA1): c.1329_1330delGA (p.Glu443Aspfs) deletion Pathogenic rs1554596461 GRCh38 Chromosome 8, 71216722: 71216723
36 EYA1 NM_000503.5(EYA1): c.1329_1330delGA (p.Glu443Aspfs) deletion Pathogenic rs1554596461 GRCh37 Chromosome 8, 72128957: 72128958
37 EYA1 NM_000503.5(EYA1): c.1013_1016delCCTT (p.Ser338Cysfs) deletion Pathogenic rs1554615536 GRCh37 Chromosome 8, 72182009: 72182012
38 EYA1 NM_000503.5(EYA1): c.1013_1016delCCTT (p.Ser338Cysfs) deletion Pathogenic rs1554615536 GRCh38 Chromosome 8, 71269774: 71269777
39 EYA1 NM_000503.5(EYA1): c.1044T> G (p.Tyr348Ter) single nucleotide variant Pathogenic rs1554615511 GRCh38 Chromosome 8, 71269746: 71269746
40 EYA1 NM_000503.5(EYA1): c.1044T> G (p.Tyr348Ter) single nucleotide variant Pathogenic rs1554615511 GRCh37 Chromosome 8, 72181981: 72181981
41 EYA1 NM_000503.5(EYA1): c.418+3G> C single nucleotide variant Uncertain significance rs1554550269 GRCh38 Chromosome 8, 71321731: 71321731
42 EYA1 NM_000503.5(EYA1): c.418+3G> C single nucleotide variant Uncertain significance rs1554550269 GRCh37 Chromosome 8, 72233966: 72233966
43 EYA1 NM_000503.5(EYA1): c.640-15_698del deletion Pathogenic rs1554541834 GRCh38 Chromosome 8, 71299175: 71299248
44 EYA1 NM_000503.5(EYA1): c.640-15_698del deletion Pathogenic rs1554541834 GRCh37 Chromosome 8, 72211410: 72211483
45 EYA1 NM_000503.5(EYA1): c.229C> T (p.Arg77Ter) single nucleotide variant Pathogenic rs200164773 GRCh37 Chromosome 8, 72234477: 72234477
46 EYA1 NM_000503.5(EYA1): c.229C> T (p.Arg77Ter) single nucleotide variant Pathogenic rs200164773 GRCh38 Chromosome 8, 71322242: 71322242
47 EYA1 NM_000503.5(EYA1): c.1140+4_1140+7delAGTT deletion Uncertain significance rs1554605968 GRCh38 Chromosome 8, 71244596: 71244599
48 EYA1 NM_000503.5(EYA1): c.1140+4_1140+7delAGTT deletion Uncertain significance rs1554605968 GRCh37 Chromosome 8, 72156831: 72156834
49 EYA1 NM_000503.5(EYA1): c.1684C> T (p.Gln562Ter) single nucleotide variant Pathogenic rs1481254965 GRCh38 Chromosome 8, 71211170: 71211170
50 EYA1 NM_000503.5(EYA1): c.1684C> T (p.Gln562Ter) single nucleotide variant Pathogenic rs1481254965 GRCh37 Chromosome 8, 72123405: 72123405

Expression for Branchiootorenal Syndrome 1

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

Pathways for Branchiootorenal Syndrome 1

Pathways related to Branchiootorenal Syndrome 1 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.89 EYA1 SIX1

GO Terms for Branchiootorenal Syndrome 1

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

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription, DNA-templated GO:0045893 9.57 EYA1 SIX1
2 sensory perception of sound GO:0007605 9.56 EYA1 SIX1
3 pattern specification process GO:0007389 9.55 EYA1 SIX1
4 inner ear morphogenesis GO:0042472 9.54 EYA1 SIX1
5 embryonic skeletal system morphogenesis GO:0048704 9.52 EYA1 SIX1
6 outflow tract morphogenesis GO:0003151 9.51 EYA1 SIX1
7 branching involved in ureteric bud morphogenesis GO:0001658 9.49 EYA1 SIX1
8 ureteric bud development GO:0001657 9.48 EYA1 SIX1
9 regulation of neuron differentiation GO:0045664 9.46 EYA1 SIX1
10 anatomical structure development GO:0048856 9.43 EYA1 SIX1
11 cochlea morphogenesis GO:0090103 9.4 EYA1 SIX1
12 middle ear morphogenesis GO:0042474 9.37 EYA1 SIX1
13 pharyngeal system development GO:0060037 9.32 EYA1 SIX1
14 neuron fate specification GO:0048665 9.26 EYA1 SIX1
15 aorta morphogenesis GO:0035909 9.16 EYA1 SIX1
16 otic vesicle development GO:0071599 8.96 EYA1 SIX1
17 positive regulation of secondary heart field cardioblast proliferation GO:0072513 8.62 EYA1 SIX1

Sources for Branchiootorenal Syndrome 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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