BOR1
MCID: BRN131
MIFTS: 39

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 57 75
Melnick-Fraser Syndrome 57 75 29 6
Bor1 57 75
Branchiootorenal Syndrome, with/without Cataract, Type 1 40
Branchiootorenal Syndrome 1, with or Without Cataracts 57
Branchio-Oto-Renal Syndrome Type 1 75
Branchio-Oto-Renal Dysplasia 1 75
Branchiootorenal Dysplasia 1 75
Branchio-Oto-Renal Syndrome 73
Branchiootorenal Dysplasia 57
Bor Syndrome 1 75

Characteristics:

OMIM:

57
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:

32
branchiootorenal syndrome 1:
Onset and clinical course variable expressivity incomplete penetrance
Inheritance heterogeneous autosomal dominant inheritance


Classifications:



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)

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 high palate and facial palsy

UniProtKB/Swiss-Prot : 75 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 : 76 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 31.7 SIX1 EYA1
2 branchiootorenal syndrome 2 11.2
3 branchiootorenal/branchiootic syndrome 11.2
4 branchiootic syndrome 1 11.1
5 fraser syndrome 1 10.7
6 deafness, autosomal dominant 23 9.8 SIX1 EYA1
7 lacrimal duct obstruction 9.8 SIX1 EYA1
8 deafness, autosomal dominant 10 9.8 SIX1 EYA1
9 branchiootic syndrome 9.7 SIX1 EYA1

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



Diseases related to Branchiootorenal Syndrome 1

Symptoms & Phenotypes for Branchiootorenal Syndrome 1

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Branchiootorenal Syndrome 1:

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

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

26
# 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 29 EYA1 SIX1

Anatomical Context for Branchiootorenal Syndrome 1

MalaCards organs/tissues related to Branchiootorenal Syndrome 1:

41
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:

75 (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.922C> T (p.Arg308Ter) single nucleotide variant Pathogenic rs121909195 GRCh37 Chromosome 8, 72184037: 72184037
2 EYA1 NM_000503.5(EYA1): c.922C> T (p.Arg308Ter) single nucleotide variant Pathogenic rs121909195 GRCh38 Chromosome 8, 71271802: 71271802
3 EYA1 EYA1, 1-BP DEL AND 2-BP INS, 1251T-CC indel Pathogenic
4 EYA1 EYA1, ALU INS, EX10 insertion Pathogenic
5 EYA1 NM_000503.5(EYA1): c.1695_1698delAAAG (p.Lys565Asnfs) deletion Pathogenic rs606231355 GRCh38 Chromosome 8, 71211156: 71211159
6 EYA1 NM_000503.5(EYA1): c.1695_1698delAAAG (p.Lys565Asnfs) deletion Pathogenic rs606231355 GRCh37 Chromosome 8, 72123391: 72123394
7 EYA1 NM_000503.5(EYA1): c.1319G> A (p.Arg440Gln) single nucleotide variant Pathogenic rs121909196 GRCh37 Chromosome 8, 72128968: 72128968
8 EYA1 NM_000503.5(EYA1): c.1319G> A (p.Arg440Gln) single nucleotide variant Pathogenic rs121909196 GRCh38 Chromosome 8, 71216733: 71216733
9 EYA1 NM_000503.5(EYA1): c.1276G> A (p.Gly426Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs121909199 GRCh37 Chromosome 8, 72129011: 72129011
10 EYA1 NM_000503.5(EYA1): c.1276G> A (p.Gly426Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs121909199 GRCh38 Chromosome 8, 71216776: 71216776
11 EYA1 EYA1, 1-BP INS, 387T insertion Pathogenic
12 EYA1 NM_000503.5(EYA1): c.1459T> C (p.Ser487Pro) single nucleotide variant Pathogenic rs121909200 GRCh37 Chromosome 8, 72127865: 72127865
13 EYA1 NM_000503.5(EYA1): c.1459T> C (p.Ser487Pro) single nucleotide variant Pathogenic rs121909200 GRCh38 Chromosome 8, 71215630: 71215630
14 EYA1 NM_000503.5(EYA1): c.1514T> G (p.Leu505Arg) single nucleotide variant Pathogenic rs121909201 GRCh37 Chromosome 8, 72127705: 72127705
15 EYA1 NM_000503.5(EYA1): c.1514T> G (p.Leu505Arg) single nucleotide variant Pathogenic rs121909201 GRCh38 Chromosome 8, 71215470: 71215470
16 EYA1 NM_000503.5(EYA1): c.1081C> T (p.Arg361Ter) single nucleotide variant Pathogenic rs121909202 GRCh37 Chromosome 8, 72156897: 72156897
17 EYA1 NM_000503.5(EYA1): c.1081C> T (p.Arg361Ter) single nucleotide variant Pathogenic rs121909202 GRCh38 Chromosome 8, 71244662: 71244662
18 EYA1 NM_000503.5(EYA1): c.966+5G> A single nucleotide variant Pathogenic rs606231357 GRCh38 Chromosome 8, 71271753: 71271753
19 EYA1 NM_000503.5(EYA1): c.966+5G> A single nucleotide variant Pathogenic rs606231357 GRCh37 Chromosome 8, 72183988: 72183988
20 EYA1 NM_000503.5(EYA1): c.229C> T (p.Arg77Ter) single nucleotide variant Pathogenic rs200164773 GRCh38 Chromosome 8, 71322242: 71322242
21 EYA1 NM_000503.5(EYA1): c.229C> T (p.Arg77Ter) single nucleotide variant Pathogenic rs200164773 GRCh37 Chromosome 8, 72234477: 72234477
22 EYA1 NM_000503.5(EYA1): c.1044T> G (p.Tyr348Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 8, 72181981: 72181981
23 EYA1 NM_000503.5(EYA1): c.1044T> G (p.Tyr348Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 8, 71269746: 71269746
24 EYA1 NM_000503.5(EYA1): c.1523C> T (p.Ala508Val) single nucleotide variant Uncertain significance rs754901033 GRCh38 Chromosome 8, 71215461: 71215461
25 EYA1 NM_000503.5(EYA1): c.1523C> T (p.Ala508Val) single nucleotide variant Uncertain significance rs754901033 GRCh37 Chromosome 8, 72127696: 72127696
26 EYA1 NM_000503.5(EYA1): c.1609T> C (p.Cys537Arg) single nucleotide variant Uncertain significance GRCh38 Chromosome 8, 71211245: 71211245
27 EYA1 NM_000503.5(EYA1): c.1609T> C (p.Cys537Arg) single nucleotide variant Uncertain significance GRCh37 Chromosome 8, 72123480: 72123480
28 EYA1 NC_000008.11: g.(?_71244583)_(71322288_?)del deletion Pathogenic GRCh37 Chromosome 8, 72156818: 72234523
29 EYA1 NC_000008.11: g.(?_71244583)_(71322288_?)del deletion Pathogenic GRCh38 Chromosome 8, 71244583: 71322288
30 EYA1 NM_000503.5(EYA1): c.241C> T (p.Gln81Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 8, 71322230: 71322230
31 EYA1 NM_000503.5(EYA1): c.241C> T (p.Gln81Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 8, 72234465: 72234465
32 EYA1 NM_000503.5(EYA1): c.418+3G> C single nucleotide variant Uncertain significance GRCh38 Chromosome 8, 71321731: 71321731
33 EYA1 NM_000503.5(EYA1): c.418+3G> C single nucleotide variant Uncertain significance GRCh37 Chromosome 8, 72233966: 72233966
34 EYA1 NM_000503.5(EYA1): c.640-15_698del deletion Pathogenic GRCh38 Chromosome 8, 71299175: 71299248
35 EYA1 NM_000503.5(EYA1): c.640-15_698del deletion Pathogenic GRCh37 Chromosome 8, 72211410: 72211483
36 EYA1 NM_000503.5(EYA1): c.1684C> T (p.Gln562Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 8, 71211170: 71211170
37 EYA1 NM_000503.5(EYA1): c.1684C> T (p.Gln562Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 8, 72123405: 72123405
38 EYA1 NM_000503.5(EYA1): c.1140+4_1140+7delAGTT deletion Uncertain significance GRCh38 Chromosome 8, 71244596: 71244599
39 EYA1 NM_000503.5(EYA1): c.1140+4_1140+7delAGTT deletion Uncertain significance GRCh37 Chromosome 8, 72156831: 72156834
40 EYA1 NM_000503.5(EYA1): c.889C> T (p.Arg297Ter) single nucleotide variant Pathogenic rs1131691667 GRCh38 Chromosome 8, 71271835: 71271835
41 EYA1 NM_000503.5(EYA1): c.889C> T (p.Arg297Ter) single nucleotide variant Pathogenic rs1131691667 GRCh37 Chromosome 8, 72184070: 72184070
42 EYA1 NM_000503.5(EYA1): c.1615G> T (p.Glu539Ter) single nucleotide variant Likely pathogenic rs1060499603 GRCh38 Chromosome 8, 71211239: 71211239
43 EYA1 NM_000503.5(EYA1): c.1615G> T (p.Glu539Ter) single nucleotide variant Likely pathogenic rs1060499603 GRCh37 Chromosome 8, 72123474: 72123474
44 EYA1 NM_000503.5(EYA1): c.396_406delGCCGTACGGCA (p.Gln132Hisfs) deletion Pathogenic rs876657690 GRCh37 Chromosome 8, 72233981: 72233991
45 EYA1 NM_000503.5(EYA1): c.396_406delGCCGTACGGCA (p.Gln132Hisfs) deletion Pathogenic rs876657690 GRCh38 Chromosome 8, 71321746: 71321756
46 EYA1 NM_000503.5(EYA1): c.896C> A (p.Ser299Ter) single nucleotide variant Pathogenic rs876657691 GRCh38 Chromosome 8, 71271828: 71271828
47 EYA1 NM_000503.5(EYA1): c.896C> A (p.Ser299Ter) single nucleotide variant Pathogenic rs876657691 GRCh37 Chromosome 8, 72184063: 72184063
48 EYA1 NM_000503.5(EYA1): c.1090G> T (p.Glu364Ter) single nucleotide variant Pathogenic rs876657689 GRCh37 Chromosome 8, 72156888: 72156888
49 EYA1 NM_000503.5(EYA1): c.1090G> T (p.Glu364Ter) single nucleotide variant Pathogenic rs876657689 GRCh38 Chromosome 8, 71244653: 71244653
50 EYA1 NM_172058.3(EYA1): c.(?_1598)-56_*(1968_?)del deletion Pathogenic GRCh38 Chromosome 8, 71197372: 71211312

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 ExPASy
19 FMA
28 GO
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30 HGMD
31 HMDB
32 HPO
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34 ICD10 via Orphanet
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62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
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74 UMLS via Orphanet
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