MCID: BRN121
MIFTS: 19

Branchiootorenal/branchiootic Syndrome

Categories: Nephrological diseases

Aliases & Classifications for Branchiootorenal/branchiootic Syndrome

MalaCards integrated aliases for Branchiootorenal/branchiootic Syndrome:

Name: Branchiootorenal/branchiootic Syndrome 26
Branchiootorenal Spectrum Disorders 26 30 6
Branchio-Oto-Renal Syndrome 26 74
Branchio-Otorenal Dysplasia 26
Branchiootorenal Syndrome 30
Branchiootorenal Dysplasia 26
Branchio-Otorenal Syndrome 26
Branchiootorenal Syndrome 26
Melnick-Fraser Syndrome 26
Branchiootic Syndrome 1 74
Branchiootic Syndrome 26
Bor Syndrome 26
Bo Syndrome 26
Bos 26
Bor 26

Classifications:



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Summaries for Branchiootorenal/branchiootic Syndrome

Genetics Home Reference : 26 Branchiootorenal (BOR) syndrome is a condition that disrupts the development of tissues in the neck and causes malformations of the ears and kidneys. The signs and symptoms of this condition vary widely, even among members of the same family. Branchiootic (BO) syndrome includes many of the same features as BOR syndrome, but affected individuals do not have kidney abnormalities. The two conditions are otherwise so similar that researchers often consider them together (BOR/BO syndrome or branchiootorenal spectrum disorders).

MalaCards based summary : Branchiootorenal/branchiootic Syndrome, also known as branchiootorenal spectrum disorders, is related to buschke-ollendorff syndrome and branchiootorenal spectrum disorder. Affiliated tissues include kidney, eye and spinal cord.

Related Diseases for Branchiootorenal/branchiootic Syndrome

Diseases related to Branchiootorenal/branchiootic Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 133)
# Related Disease Score Top Affiliating Genes
1 buschke-ollendorff syndrome 12.4
2 branchiootorenal spectrum disorder 12.4
3 bohring-opitz syndrome 12.0
4 branchiootic syndrome 1 11.8
5 cow milk allergy 11.6
6 branchiootic syndrome 11.6
7 bronchiolitis obliterans 11.4
8 branchiootorenal syndrome 1 11.4
9 branchiootorenal syndrome 11.4
10 chromosome 8q12.1-q21.2 deletion syndrome 11.3
11 branchiootorenal syndrome 2 11.2
12 branchiootic syndrome 2 11.2
13 branchiootic syndrome 3 11.2
14 thrombocytopenia 11.2
15 thrombocytopenia due to platelet alloimmunization 11.2
16 pulmonary embolism 11.2
17 microtia-anotia 11.1
18 melorheostosis, isolated 11.0
19 pulmonary fibrosis, idiopathic 11.0
20 osteopetrosis, autosomal dominant 3 11.0
21 thrombotic thrombocytopenic purpura 11.0
22 stachybotrys chartarum 11.0
23 fraser syndrome 1 10.7
24 branchiooculofacial syndrome 10.4
25 hemifacial microsomia 10.4
26 bronchiolitis 10.4
27 brucellosis 10.3
28 townes-brocks syndrome 1 10.3
29 otofaciocervical syndrome 1 10.3
30 deafness, autosomal recessive 4, with enlarged vestibular aqueduct 10.3
31 deafness, autosomal dominant 10 10.3
32 orthostatic intolerance 10.3
33 deafness, autosomal dominant 23 10.3
34 sensorineural hearing loss 10.3
35 renal osteodystrophy 10.3
36 optic nerve disease 10.3
37 dermoid cyst 10.3
38 neuropathy 10.3
39 hypoaldosteronism 10.3
40 diarrhea 10.3
41 mouth disease 10.3
42 duane retraction syndrome 1 10.2
43 renal hypodysplasia/aplasia 1 10.2
44 polycystic kidney disease 10.2
45 tick infestation 10.2
46 mastitis 10.1
47 theileriasis 10.1
48 preauricular fistulae, congenital 10.1
49 hydrocephalus 10.1
50 pleuropneumonia 10.1

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



Diseases related to Branchiootorenal/branchiootic Syndrome

Symptoms & Phenotypes for Branchiootorenal/branchiootic Syndrome

Drugs & Therapeutics for Branchiootorenal/branchiootic Syndrome

Search Clinical Trials , NIH Clinical Center for Branchiootorenal/branchiootic Syndrome

Genetic Tests for Branchiootorenal/branchiootic Syndrome

Genetic tests related to Branchiootorenal/branchiootic Syndrome:

# Genetic test Affiliating Genes
1 Branchiootorenal Spectrum Disorders 30
2 Branchiootorenal (bor) Syndrome 30

Anatomical Context for Branchiootorenal/branchiootic Syndrome

MalaCards organs/tissues related to Branchiootorenal/branchiootic Syndrome:

42
Kidney, Eye, Spinal Cord, Neutrophil

Publications for Branchiootorenal/branchiootic Syndrome

Articles related to Branchiootorenal/branchiootic Syndrome:

# Title Authors Year
1
Using Xenopus to discover new genes involved in branchiootorenal spectrum disorders. ( 26117063 )
2015

Variations for Branchiootorenal/branchiootic Syndrome

ClinVar genetic disease variations for Branchiootorenal/branchiootic Syndrome:

6 (show top 50) (show all 228)
# Gene Variation Type Significance SNP ID Assembly Location
1 EYA1 NM_000503.5(EYA1): c.1276G> A (p.Gly426Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs121909199 GRCh37 Chromosome 8, 72129011: 72129011
2 EYA1 NM_000503.5(EYA1): c.1276G> A (p.Gly426Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs121909199 GRCh38 Chromosome 8, 71216776: 71216776
3 EYA1 NM_172058.3(EYA1): c.1278C> T (p.Gly426=) single nucleotide variant Benign rs4738118 GRCh37 Chromosome 8, 72129009: 72129009
4 EYA1 NM_172058.3(EYA1): c.1278C> T (p.Gly426=) single nucleotide variant Benign rs4738118 GRCh38 Chromosome 8, 71216774: 71216774
5 EYA1 NM_000503.5(EYA1): c.1699-3C> T single nucleotide variant Benign/Likely benign rs117149407 GRCh37 Chromosome 8, 72111658: 72111658
6 EYA1 NM_000503.5(EYA1): c.1699-3C> T single nucleotide variant Benign/Likely benign rs117149407 GRCh38 Chromosome 8, 71199423: 71199423
7 EYA1 NM_172058.3(EYA1): c.1755T> C (p.His585=) single nucleotide variant Benign rs10103397 GRCh37 Chromosome 8, 72111599: 72111599
8 EYA1 NM_172058.3(EYA1): c.1755T> C (p.His585=) single nucleotide variant Benign rs10103397 GRCh38 Chromosome 8, 71199364: 71199364
9 EYA1 NM_172058.3(EYA1): c.58C> G (p.Pro20Ala) single nucleotide variant Benign rs1445404 GRCh37 Chromosome 8, 72267083: 72267083
10 EYA1 NM_172058.3(EYA1): c.58C> G (p.Pro20Ala) single nucleotide variant Benign rs1445404 GRCh38 Chromosome 8, 71354848: 71354848
11 EYA1 NM_172058.3(EYA1): c.813A> G (p.Thr271=) single nucleotide variant Benign rs1445398 GRCh37 Chromosome 8, 72211295: 72211295
12 EYA1 NM_172058.3(EYA1): c.813A> G (p.Thr271=) single nucleotide variant Benign rs1445398 GRCh38 Chromosome 8, 71299060: 71299060
13 EYA1 NM_000503.5(EYA1): c.840C> A (p.Ile280=) single nucleotide variant Benign/Likely benign rs55972891 GRCh37 Chromosome 8, 72184119: 72184119
14 EYA1 NM_000503.5(EYA1): c.840C> A (p.Ile280=) single nucleotide variant Benign/Likely benign rs55972891 GRCh38 Chromosome 8, 71271884: 71271884
15 EYA1 NM_000503.5(EYA1): c.164C> T (p.Thr55Met) single nucleotide variant Conflicting interpretations of pathogenicity rs201434219 GRCh38 Chromosome 8, 71334135: 71334135
16 EYA1 NM_000503.5(EYA1): c.164C> T (p.Thr55Met) single nucleotide variant Conflicting interpretations of pathogenicity rs201434219 GRCh37 Chromosome 8, 72246370: 72246370
17 EYA1 NM_000503.5(EYA1): c.1141-15T> G single nucleotide variant Benign/Likely benign rs186249248 GRCh37 Chromosome 8, 72129273: 72129273
18 EYA1 NM_000503.5(EYA1): c.1141-15T> G single nucleotide variant Benign/Likely benign rs186249248 GRCh38 Chromosome 8, 71217038: 71217038
19 EYA1 NM_000503.5(EYA1): c.744G> A (p.Thr248=) single nucleotide variant Benign/Likely benign rs10098224 GRCh38 Chromosome 8, 71299129: 71299129
20 EYA1 NM_000503.5(EYA1): c.744G> A (p.Thr248=) single nucleotide variant Benign/Likely benign rs10098224 GRCh37 Chromosome 8, 72211364: 72211364
21 EYA1 NM_000503.5(EYA1): c.299C> A (p.Thr100Asn) single nucleotide variant Uncertain significance rs373501480 GRCh38 Chromosome 8, 71321853: 71321853
22 EYA1 NM_000503.5(EYA1): c.299C> A (p.Thr100Asn) single nucleotide variant Uncertain significance rs373501480 GRCh37 Chromosome 8, 72234088: 72234088
23 EYA1 NM_000503.5(EYA1): c.1699-8T> C single nucleotide variant Conflicting interpretations of pathogenicity rs201537030 GRCh37 Chromosome 8, 72111663: 72111663
24 EYA1 NM_000503.5(EYA1): c.1699-8T> C single nucleotide variant Conflicting interpretations of pathogenicity rs201537030 GRCh38 Chromosome 8, 71199428: 71199428
25 EYA1 NM_000503.5(EYA1): c.1460C> T (p.Ser487Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs139717960 GRCh38 Chromosome 8, 71215629: 71215629
26 EYA1 NM_000503.5(EYA1): c.1460C> T (p.Ser487Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs139717960 GRCh37 Chromosome 8, 72127864: 72127864
27 SIX1 NM_005982.3(SIX1): c.162G> A (p.Ala54=) single nucleotide variant Benign/Likely benign rs150550985 GRCh38 Chromosome 14, 60649028: 60649028
28 SIX1 NM_005982.3(SIX1): c.162G> A (p.Ala54=) single nucleotide variant Benign/Likely benign rs150550985 GRCh37 Chromosome 14, 61115746: 61115746
29 EYA1 NM_000503.5(EYA1): c.*1310G> A single nucleotide variant Likely benign rs147323889 GRCh38 Chromosome 8, 71198030: 71198030
30 EYA1 NM_000503.5(EYA1): c.*1310G> A single nucleotide variant Likely benign rs147323889 GRCh37 Chromosome 8, 72110265: 72110265
31 EYA1 NM_000503.5(EYA1): c.*23G> A single nucleotide variant Likely benign rs373876510 GRCh38 Chromosome 8, 71199317: 71199317
32 EYA1 NM_000503.5(EYA1): c.*23G> A single nucleotide variant Likely benign rs373876510 GRCh37 Chromosome 8, 72111552: 72111552
33 EYA1 NM_000503.5(EYA1): c.1475+15G> A single nucleotide variant Likely benign rs373917012 GRCh37 Chromosome 8, 72127834: 72127834
34 EYA1 NM_000503.5(EYA1): c.1475+15G> A single nucleotide variant Likely benign rs373917012 GRCh38 Chromosome 8, 71215599: 71215599
35 EYA1 NM_000503.5(EYA1): c.1258T> C (p.Leu420=) single nucleotide variant Likely benign rs200074362 GRCh37 Chromosome 8, 72129029: 72129029
36 EYA1 NM_000503.5(EYA1): c.1258T> C (p.Leu420=) single nucleotide variant Likely benign rs200074362 GRCh38 Chromosome 8, 71216794: 71216794
37 EYA1 NM_000503.5(EYA1): c.1200-11C> A single nucleotide variant Benign/Likely benign rs181457812 GRCh37 Chromosome 8, 72129098: 72129098
38 EYA1 NM_000503.5(EYA1): c.1200-11C> A single nucleotide variant Benign/Likely benign rs181457812 GRCh38 Chromosome 8, 71216863: 71216863
39 EYA1 NM_000503.5(EYA1): c.966+4C> T single nucleotide variant Benign/Likely benign rs139429307 GRCh37 Chromosome 8, 72183989: 72183989
40 EYA1 NM_000503.5(EYA1): c.966+4C> T single nucleotide variant Benign/Likely benign rs139429307 GRCh38 Chromosome 8, 71271754: 71271754
41 EYA1 NM_000503.5(EYA1): c.556+5G> C single nucleotide variant Uncertain significance rs886063088 GRCh37 Chromosome 8, 72229782: 72229782
42 EYA1 NM_000503.5(EYA1): c.556+5G> C single nucleotide variant Uncertain significance rs886063088 GRCh38 Chromosome 8, 71317547: 71317547
43 EYA1 NM_000503.5(EYA1): c.-242T> G single nucleotide variant Uncertain significance rs886063093 GRCh38 Chromosome 8, 71361834: 71361834
44 EYA1 NM_000503.5(EYA1): c.-242T> G single nucleotide variant Uncertain significance rs886063093 GRCh37 Chromosome 8, 72274069: 72274069
45 EYA1 NM_000503.5(EYA1): c.-263C> T single nucleotide variant Uncertain significance rs146081509 GRCh38 Chromosome 8, 71361855: 71361855
46 EYA1 NM_000503.5(EYA1): c.-263C> T single nucleotide variant Uncertain significance rs146081509 GRCh37 Chromosome 8, 72274090: 72274090
47 EYA1 NM_000503.5(EYA1): c.-271G> A single nucleotide variant Benign rs73684755 GRCh38 Chromosome 8, 71361863: 71361863
48 EYA1 NM_000503.5(EYA1): c.-271G> A single nucleotide variant Benign rs73684755 GRCh37 Chromosome 8, 72274098: 72274098
49 EYA1 NM_000503.5(EYA1): c.-429G> A single nucleotide variant Uncertain significance rs886063094 GRCh38 Chromosome 8, 71362021: 71362021
50 EYA1 NM_000503.5(EYA1): c.-429G> A single nucleotide variant Uncertain significance rs886063094 GRCh37 Chromosome 8, 72274256: 72274256

Expression for Branchiootorenal/branchiootic Syndrome

Search GEO for disease gene expression data for Branchiootorenal/branchiootic Syndrome.

Pathways for Branchiootorenal/branchiootic Syndrome

GO Terms for Branchiootorenal/branchiootic Syndrome

Sources for Branchiootorenal/branchiootic Syndrome

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