MCID: BRN107
MIFTS: 44

Branchiootorenal Syndrome 1, with or Without Cataracts malady

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

Aliases & Classifications for Branchiootorenal Syndrome 1, with or Without Cataracts

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Sources:
11Disease Ontology, 12diseasecard, 13DISEASES, 27GTR, 31ICD10 via Orphanet, 37MedGen, 39MeSH, 40MESH via Orphanet, 45NCIt, 48NIH Rare Diseases, 50Novoseek, 52OMIM, 54Orphanet, 62SNOMED-CT, 64The Human Phenotype Ontology, 68UMLS, 69UMLS via Orphanet, 70UniProtKB/Swiss-Prot
See all MalaCards sources

Aliases & Descriptions for Branchiootorenal Syndrome 1, with or Without Cataracts:

Name: Branchiootorenal Syndrome 1, with or Without Cataracts 52
Branchiootorenal Syndrome 11 48 54 13
Melnick-Fraser Syndrome 11 48 70 27
Anterior Segment Anomalies with or Without Cataract 52 27 12
Branchio-Oto-Renal Syndrome 11 39 68
Bor Syndrome 48 54 50
Branchiootorenal Dysplasia 11 48
Branchio-Oto-Renal Syndrome Type 1 70
 
Branchio-Oto-Renal Dysplasia 1 70
Branchiootorenal Dysplasia 1 70
Branchio-Otorenal Dysplasia 11
Branchio Oto Renal Syndrome 48
Branchiootorenal Syndrome 1 70
Bor Syndrome 1 70
Bor1 70

Characteristics:

Orphanet epidemiological data:

54
branchiootorenal syndrome:
Inheritance: Autosomal dominant; Prevalence: 1-9/100000 (Canada); Age of onset: All ages; Age of death: normal life expectancy

HPO:

64
branchiootorenal syndrome 1, with or without cataracts:
Inheritance: autosomal dominant inheritance, heterogeneous
Onset and clinical course: variable expressivity, incomplete penetrance

Classifications:



External Ids:

OMIM52 113650
Disease Ontology11 DOID:14702
MeSH39 D019280
NCIt45 C98983
Orphanet54 ORPHA107
SNOMED-CT62 205806009, 290006
MESH via Orphanet40 D019280
ICD10 via Orphanet31 Q87.8
UMLS via Orphanet69 C0265234
MedGen37 C2936782

Summaries for Branchiootorenal Syndrome 1, with or Without Cataracts

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OMIM:52 Branchiootorenal syndrome is an autosomal dominant disorder characterized by sensorineural, conductive, or mixed... (113650) more...

MalaCards based summary: Branchiootorenal Syndrome 1, with or Without Cataracts, also known as branchiootorenal syndrome, is related to branchiootic syndrome 1 and branchiootorenal syndrome 2, and has symptoms including hearing impairment, preauricular pit and mixed hearing impairment. An important gene associated with Branchiootorenal Syndrome 1, with or Without Cataracts is EYA1 (EYA Transcriptional Coactivator And Phosphatase 1). Affiliated tissues include kidney and skin, and related mouse phenotypes are renal/urinary system and respiratory system.

NIH Rare Diseases:48 Branchiootorenal syndrome is characterized by birth defects or anomalies of tissues in the neck, malformations of the external ear, hearing loss, and kidney malformations. Symptom and symptom severity can vary greatly from person to person. It can be caused by mutations in the EYA1, SIX1, or SIX5 genes. It is passed through families in an autosomal dominant fashion. Treatment may include surgery to remove the anomalies of the neck (i.e., branchial fistulae or cysts), careful assessment and management of hearing loss, and follow-up by a kidney specialist (nephrologist). In some cases dialysis or kidney transplant may be required. Last updated: 2/28/2011

UniProtKB/Swiss-Prot:70 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.

Related Diseases for Branchiootorenal Syndrome 1, with or Without Cataracts

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Graphical network of diseases related to Branchiootorenal Syndrome 1, with or Without Cataracts:



Diseases related to branchiootorenal syndrome 1, with or without cataracts

Symptoms & Phenotypes for Branchiootorenal Syndrome 1, with or Without Cataracts

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Symptoms by clinical synopsis from OMIM:

113650

Clinical features from OMIM:

113650

Human phenotypes related to Branchiootorenal Syndrome 1, with or Without Cataracts:

 64 54 (show all 50)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hearing impairment64 54 hallmark (90%) Very frequent (99-80%) HP:0000365
2 preauricular pit64 common (75%) HP:0004467
3 mixed hearing impairment64 typical (50%) HP:0000410
4 abnormality of the inner ear64 typical (50%) HP:0000359
5 abnormality of the middle ear64 typical (50%) HP:0000370
6 preauricular skin tag64 54 typical (50%) Frequent (79-30%) HP:0000384
7 external ear malformation64 54 typical (50%) Frequent (79-30%) HP:0008572
8 renal hypoplasia/aplasia64 54 typical (50%) Frequent (79-30%) HP:0008678
9 cupped ear64 45% HP:0000378
10 microtia64 45% HP:0008551
11 stenosis of the external auditory canal64 54 30% Frequent (79-30%) HP:0000402
12 lacrimal duct stenosis64 25% HP:0007678
13 lacrimal duct aplasia64 25% HP:0007925
14 facial palsy64 54 10% Occasional (29-5%) HP:0010628
15 multicystic kidney dysplasia64 54 occasional (7.5%) Occasional (29-5%) HP:0000003
16 vesicoureteral reflux64 54 occasional (7.5%) Occasional (29-5%) HP:0000076
17 renal insufficiency64 54 occasional (7.5%) Occasional (29-5%) HP:0000083
18 cleft palate64 54 occasional (7.5%) Occasional (29-5%) HP:0000175
19 micrognathia64 occasional (7.5%) HP:0000347
20 atresia of the external auditory canal64 54 occasional (7.5%) Frequent (79-30%) HP:0000413
21 lacrimation abnormality64 occasional (7.5%) HP:0000632
22 renal agenesis64 HP:0000104
23 renal dysplasia64 HP:0000110
24 polycystic kidney dysplasia64 HP:0000113
25 bifid uvula64 HP:0000193
26 high palate64 HP:0000218
27 narrow face64 HP:0000275
28 long face64 HP:0000276
29 incomplete partition of the cochlea type ii64 HP:0000376
30 microdontia64 HP:0000691
31 renal steatosis64 HP:0000799
32 congenital hip dislocation64 HP:0001374
33 abnormality of the cerebrum64 HP:0002060
34 intestinal malrotation64 HP:0002566
35 dilatated internal auditory canal64 HP:0004458
36 renal malrotation64 HP:0004712
37 abnormality of the renal collecting system64 HP:0004742
38 hypoplasia of the cochlea64 54 Frequent (79-30%) HP:0008586
39 branchial fistula64 HP:0009795
40 branchial cyst64 54 Frequent (79-30%) HP:0009796
41 cholesteatoma64 HP:0009797
42 euthyroid goiter64 HP:0009798
43 overbite64 HP:0011094
44 gustatory lacrimation64 HP:0100274
45 ureteropelvic junction obstruction54 Occasional (29-5%)
46 retrognathia54 Occasional (29-5%)
47 enlarged cochlear aqueduct54 Frequent (79-30%)
48 hydronephrosis54 Occasional (29-5%)
49 abnormality of the middle ear ossicles54 Frequent (79-30%)
50 abnormality of the lacrimal duct54 Occasional (29-5%)

MGI Mouse Phenotypes related to Branchiootorenal Syndrome 1, with or Without Cataracts according to GeneCards Suite gene sharing:

41 (show all 12)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053679.6EYA1, FRAS1, PAX2, SALL1, SIX1
2MP:00053889.3DACH1, EYA1, FRAS1, HOXA2, SIX1
3MP:00053859.2EYA1, FRAS1, HOXA2, PAX2, SALL1, SIX1
4MP:00053829.1EYA1, EYA4, FRAS1, HOXA2, SIX1
5MP:00053798.9DACH1, EYA1, PAX2, SIX1, SIX5, SIX6
6MP:00053908.9DACH1, EYA1, FRAS1, HOXA2, SALL1, SIX1
7MP:00053778.7EYA1, EYA4, HOXA2, PAX2, SALL1, SIX1
8MP:00053818.7EYA1, EYA4, FRAS1, HOXA2, SALL1, SIX1
9MP:00053848.6DACH1, EYA1, FRAS1, HOXA2, PAX2, SALL1
10MP:00053918.2EYA1, FRAS1, PAX2, SIX1, SIX5, SIX6
11MP:00036317.8DACH1, EYA1, HOXA2, PAX2, SALL1, SIX1
12MP:00107687.3DACH1, EYA1, EYA4, FRAS1, HOXA2, PAX2

Drugs & Therapeutics for Branchiootorenal Syndrome 1, with or Without Cataracts

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Branchiootorenal Syndrome 1, with or Without Cataracts


Cochrane evidence based reviews: branchio-oto-renal syndrome

Genetic Tests for Branchiootorenal Syndrome 1, with or Without Cataracts

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Genetic tests related to Branchiootorenal Syndrome 1, with or Without Cataracts:

id Genetic test Affiliating Genes
1 Melnick-Fraser Syndrome27
2 Anterior Segment Anomalies with or Without Cataract27

Anatomical Context for Branchiootorenal Syndrome 1, with or Without Cataracts

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MalaCards organs/tissues related to Branchiootorenal Syndrome 1, with or Without Cataracts:

36
Kidney, Skin

Publications for Branchiootorenal Syndrome 1, with or Without Cataracts

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Variations for Branchiootorenal Syndrome 1, with or Without Cataracts

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UniProtKB/Swiss-Prot genetic disease variations for Branchiootorenal Syndrome 1, with or Without Cataracts:

70 (show all 12)
id Symbol AA change Variation ID SNP ID
1EYA1p.Ser487ProVAR_005203rs121909200
2EYA1p.Leu505ArgVAR_005204rs121909201
3EYA1p.Gly426SerVAR_016865rs121909199
4EYA1p.Asp429GlyVAR_016866
5EYA1p.Arg440GlnVAR_016867rs121909196
6EYA1p.Leu583ProVAR_016869rs397517920
7EYA1p.Pro95SerVAR_064942
8EYA1p.Gly140SerVAR_064943
9EYA1p.Glu363ValVAR_064944
10EYA1p.Leu514ProVAR_064945rs112340154
11EYA1p.Tyr527CysVAR_064946
12EYA1p.Met569ThrVAR_064947

Clinvar genetic disease variations for Branchiootorenal Syndrome 1, with or Without Cataracts:

5 (show all 26)
id Gene Variation Type Significance SNP ID Assembly Location
1EYA1NC_000008.11: g.(?_71199264)_(71356523_?)deldeletionPathogenicGRCh37Chr 8, 72111499: 72268758
2EYA1NM_000503.5(EYA1): c.1475+1G> CSNVPathogenicrs727503042GRCh37Chr 8, 72127848: 72127848
3EYA1NM_000503.5(EYA1): c.428G> A (p.Trp143Ter)SNVPathogenicrs727504494GRCh37Chr 8, 72229915: 72229915
4EYA1NM_172058.3(EYA1): c.(?_1598)-56_*(1968_?)deldeletionPathogenicGRCh37Chr 8, 72109607: 72123547
5EYA1NM_000503.5(EYA1): c.1090G> T (p.Glu364Ter)SNVPathogenicrs876657689GRCh38Chr 8, 71244653: 71244653
6EYA1NM_000503.5(EYA1): c.396_406delGCCGTACGGCA (p.Gln132Hisfs)deletionPathogenicrs876657690GRCh38Chr 8, 71321746: 71321756
7EYA1NM_000503.5(EYA1): c.896C> A (p.Ser299Ter)SNVPathogenicrs876657691GRCh38Chr 8, 71271828: 71271828
8EYA1NM_000503.5(EYA1): c.1122delA (p.Leu374Phefs)deletionPathogenicrs397517916GRCh37Chr 8, 72156856: 72156856
9EYA1NM_000503.5(EYA1): c.1361-1G> TSNVPathogenicrs397517917GRCh37Chr 8, 72127964: 72127964
10EYA1NM_000503.5(EYA1): c.1579T> A (p.Tyr527Asn)SNVLikely pathogenicrs397517918GRCh37Chr 8, 72127640: 72127640
11EYA1NM_000503.5(EYA1): c.1697_1698insT (p.Lys566Asnfs)insertionPathogenicrs397517919GRCh37Chr 8, 72123391: 72123392
12EYA1NM_000503.5(EYA1): c.1748T> C (p.Leu583Pro)SNVLikely pathogenicrs397517920GRCh37Chr 8, 72111606: 72111606
13SIX1NM_005982.3(SIX1): c.317T> G (p.Val106Gly)SNVPathogenicrs397515560GRCh37Chr 14, 61115591: 61115591
14SIX1NM_005982.3(SIX1): c.334C> T (p.Arg112Cys)SNVPathogenicrs397515561GRCh37Chr 14, 61115574: 61115574
15SIX1NM_005982.3(SIX1): c.50T> A (p.Val17Glu)SNVPathogenicrs397515562GRCh37Chr 14, 61115858: 61115858
16EYA1NM_000503.5(EYA1): c.922C> T (p.Arg308Ter)SNVPathogenicrs121909195GRCh37Chr 8, 72184037: 72184037
17EYA1EYA1, 1-BP DEL AND 2-BP INS, 1251T-CCindelPathogenicChr na, -1: -1
18EYA1EYA1, ALU INS, EX10insertionPathogenicChr na, -1: -1
19EYA1NM_000503.5(EYA1): c.1695_1698delAAAG (p.Lys565Asnfs)deletionPathogenicrs606231355GRCh38Chr 8, 71211156: 71211159
20EYA1NM_000503.5(EYA1): c.1319G> A (p.Arg440Gln)SNVPathogenicrs121909196GRCh37Chr 8, 72128968: 72128968
21EYA1EYA1, 1-BP INS, 387TinsertionPathogenicChr na, -1: -1
22EYA1NM_000503.5(EYA1): c.1459T> C (p.Ser487Pro)SNVPathogenicrs121909200GRCh37Chr 8, 72127865: 72127865
23EYA1NM_000503.5(EYA1): c.1514T> G (p.Leu505Arg)SNVPathogenicrs121909201GRCh37Chr 8, 72127705: 72127705
24EYA1NM_000503.5(EYA1): c.1081C> T (p.Arg361Ter)SNVPathogenicrs121909202GRCh37Chr 8, 72156897: 72156897
25EYA1NM_172060.3(EYA1): c.867+5G> ASNVPathogenicrs606231357GRCh38Chr 8, 71271753: 71271753
26SIX1NM_005982.3(SIX1): c.386A> G (p.Tyr129Cys)SNVPathogenicrs104894478GRCh37Chr 14, 61115522: 61115522

Copy number variations for Branchiootorenal Syndrome 1, with or Without Cataracts from CNVD:

6
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
124244387230567972332204DeletionEYA1Branchiootorenal syndrome

Expression for genes affiliated with Branchiootorenal Syndrome 1, with or Without Cataracts

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Search GEO for disease gene expression data for Branchiootorenal Syndrome 1, with or Without Cataracts.

Pathways for genes affiliated with Branchiootorenal Syndrome 1, with or Without Cataracts

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GO Terms for genes affiliated with Branchiootorenal Syndrome 1, with or Without Cataracts

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Cellular components related to Branchiootorenal Syndrome 1, with or Without Cataracts according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1protein-DNA complexGO:00329939.8EYA1, PAX2
2nucleusGO:00056346.8DACH1, EYA1, EYA4, HOXA2, PAX2, SALL1

Biological processes related to Branchiootorenal Syndrome 1, with or Without Cataracts according to GeneCards Suite gene sharing:

(show all 30)
idNameGO IDScoreTop Affiliating Genes
1anatomical structure developmentGO:004885610.7EYA1, SIX1
2aorta morphogenesisGO:003590910.7EYA1, SIX1
3neuron fate specificationGO:004866510.7EYA1, SIX1
4otic vesicle developmentGO:007159910.7EYA1, SIX1
5outflow tract morphogenesisGO:000315110.7EYA1, SIX1
6pharyngeal system developmentGO:006003710.7EYA1, SIX1
7positive regulation of secondary heart field cardioblast proliferationGO:007251310.7EYA1, SIX1
8regulation of neuron differentiationGO:004566410.7EYA1, SIX1
9mesodermal cell fate specificationGO:000750110.6EYA1, PAX2
10metanephric mesenchyme developmentGO:007207510.6PAX2, SIX1
11positive regulation of branching involved in ureteric bud morphogenesisGO:009019010.6PAX2, SIX1
12outer ear morphogenesisGO:004247310.6EYA1, SALL1
13neurogenesisGO:002200810.6SALL1, SIX1
14mesenchymal to epithelial transition involved in metanephros morphogenesisGO:000333710.5PAX2, SALL1
15cell fate determinationGO:000170910.5HOXA2, PAX2
16cochlea morphogenesisGO:009010310.3EYA1, PAX2, SIX1
17inner ear morphogenesisGO:004247210.3EYA1, PAX2, SIX1
18embryonic skeletal system morphogenesisGO:004870410.2EYA1, HOXA2, SIX1
19middle ear morphogenesisGO:004247410.2EYA1, HOXA2, SIX1
20pattern specification processGO:000738910.2EYA1, HOXA2, SIX1
21inner ear developmentGO:004883910.2EYA4, SIX1
22ureteric bud developmentGO:000165710.1EYA1, SALL1, SIX1
23branching involved in ureteric bud morphogenesisGO:00016589.9EYA1, PAX2, SALL1, SIX1
24positive regulation of transcription, DNA-templatedGO:00458939.9EYA1, PAX2, SALL1, SIX1
25sensory perception of soundGO:00076059.8EYA1, EYA4, SIX1
26negative regulation of transcription, DNA-templatedGO:00458929.7DACH1, PAX2, SALL1, SIX5
27negative regulation of transcription from RNA polymerase II promoterGO:00001229.6DACH1, HOXA2, SALL1, SIX1
28visual perceptionGO:00076018.7EYA4, PAX2, SIX6
29positive regulation of transcription from RNA polymerase II promoterGO:00459448.5EYA1, HOXA2, PAX2, SALL1, SIX1, SIX5
30transcription, DNA-templatedGO:00063518.4EYA1, EYA4, HOXA2, PAX2, SALL1, SIX5

Molecular functions related to Branchiootorenal Syndrome 1, with or Without Cataracts according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1transcription regulatory region DNA bindingGO:004421210.0PAX2, SALL1, SIX1
2RNA polymerase II core promoter proximal region sequence-specific DNA bindingGO:00009789.7HOXA2, SALL1, SIX1, SIX5
3sequence-specific DNA bindingGO:00435659.6HOXA2, SALL1, SIX1, SIX5
4transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific bindingGO:00010789.1DACH1, HOXA2, SALL1
5DNA bindingGO:00036778.7DACH1, PAX2, SALL1, SIX1, SIX5, SIX6

Sources for Branchiootorenal Syndrome 1, with or Without Cataracts

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet