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 and skin, 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 SIX1 EYA1
7 lacrimal duct obstruction 9.7 SIX1 EYA1
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 euthyroid goiter 33 HP:0009798
28 renal steatosis 33 HP:0000799
29 abnormality of the cerebrum 33 HP:0002060
30 abnormality of the renal collecting system 33 HP:0004742
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 dilatated internal auditory canal 33 HP:0004458

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 Approved 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

Anatomical Context for Branchiootorenal Syndrome 1

MalaCards organs/tissues related to Branchiootorenal Syndrome 1:

42
Kidney, Skin

Publications for Branchiootorenal Syndrome 1

Articles related to Branchiootorenal Syndrome 1:

# Title Authors Year
1
Quiz page April 2008: deafness, preauricular pits, and renal failure. BOR syndrome or Melnick-Fraser syndrome. ( 18371523 )
2008
2
Noncompaction in Melnick Fraser syndrome. ( 17669095 )
2007
3
Melnick-Fraser syndrome. ( 12466581 )
2002
4
Branchio-oto-renal syndrome (BOR syndrome, Melnick-Fraser syndrome). ( 9557405 )
1998
5
Sonographic features of a dysplastic kidney in Melnick-Fraser syndrome. ( 8010234 )
1994
6
Melnick-Fraser syndrome. ( 8003778 )
1994

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_172058.2(EYA1): c.(?_-66)_(*76_?)del deletion Pathogenic GRCh37 Chromosome 8, 72111499: 72268758
2 EYA1 NM_172058.2(EYA1): c.(?_-66)_(*76_?)del deletion Pathogenic GRCh38 Chromosome 8, 71199264: 71356523
3 EYA1 NM_000503.5(EYA1): c.1475+1G> C single nucleotide variant Pathogenic rs727503042 GRCh37 Chromosome 8, 72127848: 72127848
4 EYA1 NM_000503.5(EYA1): c.1475+1G> C single nucleotide variant Pathogenic rs727503042 GRCh38 Chromosome 8, 71215613: 71215613
5 EYA1 NM_000503.5(EYA1): c.840C> A (p.Ile280=) single nucleotide variant Benign/Likely benign rs55972891 GRCh37 Chromosome 8, 72184119: 72184119
6 EYA1 NM_000503.5(EYA1): c.840C> A (p.Ile280=) single nucleotide variant Benign/Likely benign rs55972891 GRCh38 Chromosome 8, 71271884: 71271884
7 EYA1 NM_000503.5(EYA1): c.428G> A (p.Trp143Ter) single nucleotide variant Pathogenic rs727504494 GRCh38 Chromosome 8, 71317680: 71317680
8 EYA1 NM_000503.5(EYA1): c.428G> A (p.Trp143Ter) single nucleotide variant Pathogenic rs727504494 GRCh37 Chromosome 8, 72229915: 72229915
9 EYA1 NM_000503.5(EYA1): c.164C> T (p.Thr55Met) single nucleotide variant Conflicting interpretations of pathogenicity rs201434219 GRCh38 Chromosome 8, 71334135: 71334135
10 EYA1 NM_000503.5(EYA1): c.164C> T (p.Thr55Met) single nucleotide variant Conflicting interpretations of pathogenicity rs201434219 GRCh37 Chromosome 8, 72246370: 72246370
11 EYA1 NM_000503.5(EYA1): c.966+5G> A single nucleotide variant Pathogenic rs606231357 GRCh37 Chromosome 8, 72183988: 72183988
12 EYA1 NM_000503.5(EYA1): c.966+5G> A single nucleotide variant Pathogenic rs606231357 GRCh38 Chromosome 8, 71271753: 71271753
13 EYA1 NM_000503.5(EYA1): c.922C> T (p.Arg308Ter) single nucleotide variant Pathogenic rs121909195 GRCh37 Chromosome 8, 72184037: 72184037
14 EYA1 NM_000503.5(EYA1): c.922C> T (p.Arg308Ter) single nucleotide variant Pathogenic rs121909195 GRCh38 Chromosome 8, 71271802: 71271802
15 EYA1 EYA1, 1-BP DEL AND 2-BP INS, 1251T-CC indel Pathogenic
16 EYA1 EYA1, ALU INS, EX10 insertion Pathogenic
17 EYA1 NM_000503.5(EYA1): c.1695_1698delAAAG (p.Lys565Asnfs) deletion Pathogenic rs606231355 GRCh38 Chromosome 8, 71211156: 71211159
18 EYA1 NM_000503.5(EYA1): c.1695_1698delAAAG (p.Lys565Asnfs) deletion Pathogenic rs606231355 GRCh37 Chromosome 8, 72123391: 72123394
19 EYA1 NM_000503.5(EYA1): c.1319G> A (p.Arg440Gln) single nucleotide variant Pathogenic rs121909196 GRCh37 Chromosome 8, 72128968: 72128968
20 EYA1 NM_000503.5(EYA1): c.1319G> A (p.Arg440Gln) single nucleotide variant Pathogenic rs121909196 GRCh38 Chromosome 8, 71216733: 71216733
21 EYA1 NM_000503.5(EYA1): c.1276G> A (p.Gly426Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs121909199 GRCh37 Chromosome 8, 72129011: 72129011
22 EYA1 NM_000503.5(EYA1): c.1276G> A (p.Gly426Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs121909199 GRCh38 Chromosome 8, 71216776: 71216776
23 EYA1 EYA1, 1-BP INS, 387T insertion Pathogenic
24 EYA1 NM_000503.5(EYA1): c.1459T> C (p.Ser487Pro) single nucleotide variant Pathogenic rs121909200 GRCh37 Chromosome 8, 72127865: 72127865
25 EYA1 NM_000503.5(EYA1): c.1459T> C (p.Ser487Pro) single nucleotide variant Pathogenic rs121909200 GRCh38 Chromosome 8, 71215630: 71215630
26 EYA1 NM_000503.5(EYA1): c.1514T> G (p.Leu505Arg) single nucleotide variant Pathogenic rs121909201 GRCh37 Chromosome 8, 72127705: 72127705
27 EYA1 NM_000503.5(EYA1): c.1514T> G (p.Leu505Arg) single nucleotide variant Pathogenic rs121909201 GRCh38 Chromosome 8, 71215470: 71215470
28 EYA1 NM_000503.5(EYA1): c.1081C> T (p.Arg361Ter) single nucleotide variant Pathogenic rs121909202 GRCh37 Chromosome 8, 72156897: 72156897
29 EYA1 NM_000503.5(EYA1): c.1081C> T (p.Arg361Ter) single nucleotide variant Pathogenic rs121909202 GRCh38 Chromosome 8, 71244662: 71244662
30 SIX1 NM_005982.3(SIX1): c.386A> G (p.Tyr129Cys) single nucleotide variant Pathogenic rs104894478 GRCh37 Chromosome 14, 61115522: 61115522
31 SIX1 NM_005982.3(SIX1): c.386A> G (p.Tyr129Cys) single nucleotide variant Pathogenic rs104894478 GRCh38 Chromosome 14, 60648804: 60648804
32 EYA1 NM_000503.5(EYA1): c.1697_1698insT (p.Lys566Asnfs) insertion Pathogenic rs397517919 GRCh38 Chromosome 8, 71211156: 71211157
33 EYA1 NM_000503.5(EYA1): c.1697_1698insT (p.Lys566Asnfs) insertion Pathogenic rs397517919 GRCh37 Chromosome 8, 72123391: 72123392
34 EYA1 NM_000503.5(EYA1): c.1122delA (p.Leu374Phefs) deletion Pathogenic rs397517916 GRCh37 Chromosome 8, 72156856: 72156856
35 EYA1 NM_000503.5(EYA1): c.1122delA (p.Leu374Phefs) deletion Pathogenic rs397517916 GRCh38 Chromosome 8, 71244621: 71244621
36 EYA1 NM_000503.5(EYA1): c.1361-1G> T single nucleotide variant Pathogenic rs397517917 GRCh37 Chromosome 8, 72127964: 72127964
37 EYA1 NM_000503.5(EYA1): c.1361-1G> T single nucleotide variant Pathogenic rs397517917 GRCh38 Chromosome 8, 71215729: 71215729
38 EYA1 NM_000503.5(EYA1): c.1579T> A (p.Tyr527Asn) single nucleotide variant Likely pathogenic rs397517918 GRCh37 Chromosome 8, 72127640: 72127640
39 EYA1 NM_000503.5(EYA1): c.1579T> A (p.Tyr527Asn) single nucleotide variant Likely pathogenic rs397517918 GRCh38 Chromosome 8, 71215405: 71215405
40 EYA1 NM_000503.5(EYA1): c.1748T> C (p.Leu583Pro) single nucleotide variant Likely pathogenic rs397517920 GRCh37 Chromosome 8, 72111606: 72111606
41 EYA1 NM_000503.5(EYA1): c.1748T> C (p.Leu583Pro) single nucleotide variant Likely pathogenic rs397517920 GRCh38 Chromosome 8, 71199371: 71199371
42 SIX1 NM_005982.3(SIX1): c.317T> G (p.Val106Gly) single nucleotide variant Pathogenic rs397515560 GRCh37 Chromosome 14, 61115591: 61115591
43 SIX1 NM_005982.3(SIX1): c.317T> G (p.Val106Gly) single nucleotide variant Pathogenic rs397515560 GRCh38 Chromosome 14, 60648873: 60648873
44 SIX1 NM_005982.3(SIX1): c.334C> T (p.Arg112Cys) single nucleotide variant Pathogenic rs397515561 GRCh37 Chromosome 14, 61115574: 61115574
45 SIX1 NM_005982.3(SIX1): c.334C> T (p.Arg112Cys) single nucleotide variant Pathogenic rs397515561 GRCh38 Chromosome 14, 60648856: 60648856
46 SIX1 NM_005982.3(SIX1): c.50T> A (p.Val17Glu) single nucleotide variant Pathogenic rs397515562 GRCh37 Chromosome 14, 61115858: 61115858
47 SIX1 NM_005982.3(SIX1): c.50T> A (p.Val17Glu) single nucleotide variant Pathogenic rs397515562 GRCh38 Chromosome 14, 60649140: 60649140
48 EYA1 NM_000503.5(EYA1): c.671G> T (p.Gly224Val) single nucleotide variant Uncertain significance rs201509408 GRCh38 Chromosome 8, 71299202: 71299202
49 EYA1 NM_000503.5(EYA1): c.671G> T (p.Gly224Val) single nucleotide variant Uncertain significance rs201509408 GRCh37 Chromosome 8, 72211437: 72211437
50 EYA1 NM_000503.5(EYA1): c.403G> A (p.Gly135Ser) single nucleotide variant Uncertain significance rs747476629 GRCh37 Chromosome 8, 72233984: 72233984

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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