BOR
MCID: BRN121
MIFTS: 24

Branchiootorenal/branchiootic Syndrome (BOR)

Categories: Nephrological diseases

Aliases & Classifications for Branchiootorenal/branchiootic Syndrome

MalaCards integrated aliases for Branchiootorenal/branchiootic Syndrome:

Name: Branchiootorenal/branchiootic Syndrome 25
Branchiootorenal Spectrum Disorders 25 29 6
Branchio-Oto-Renal Syndrome 25 71
Branchio-Otorenal Dysplasia 25
Branchiootorenal Dysplasia 25
Branchio-Otorenal Syndrome 25
Branchiootorenal Syndrome 25
Melnick-Fraser Syndrome 25
Branchiootic Syndrome 1 71
Branchiootic Syndrome 25
Bor Syndrome 25
Bo Syndrome 25
Bos 25
Bor 25

Classifications:



External Ids:

UMLS 71 C0265234 C1865143

Summaries for Branchiootorenal/branchiootic Syndrome

Genetics Home Reference : 25 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). "Branchio-" refers to the second branchial arch, which is a structure in the developing embryo that gives rise to tissues in the front and side of the neck. In people with BOR/BO syndrome, abnormal development of the second branchial arch can result in the formation of masses in the neck called branchial cleft cysts. Some affected people have abnormal holes or pits called fistulae in the side of the neck just above the collarbone. Fistulae can form tunnels into the neck, exiting in the mouth near the tonsil. Branchial cleft cysts and fistulae can cause health problems if they become infected, so they are often removed surgically. "Oto-" and "-otic" refer to the ear; most people with BOR/BO syndrome have hearing loss and other ear abnormalities. The hearing loss can be sensorineural, meaning it is caused by abnormalities in the inner ear; conductive, meaning it results from changes in the small bones in the middle ear; or mixed, meaning it is caused by a combination of inner ear and middle ear abnormalities. Some affected people have tiny holes in the skin or extra bits of tissue just in front of the ear. These are called preauricular pits and preauricular tags, respectively. "Renal" refers to the kidneys; BOR syndrome (but not BO syndrome) causes abnormalities of kidney structure and function. These abnormalities range from mild to severe and can affect one or both kidneys. In some cases, end-stage renal disease (ESRD) develops later in life. This serious condition occurs when the kidneys become unable to filter fluids and waste products from the body effectively.

MalaCards based summary : Branchiootorenal/branchiootic Syndrome, also known as branchiootorenal spectrum disorders, is related to buschke-ollendorff syndrome and bohring-opitz syndrome. The drugs Azithromycin and Anti-Bacterial Agents have been mentioned in the context of this disorder. Affiliated tissues include bone, kidney and skin.

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 272)
# Related Disease Score Top Affiliating Genes
1 buschke-ollendorff syndrome 12.2
2 bohring-opitz syndrome 12.1
3 chromosome 8q12.1-q21.2 deletion syndrome 11.8
4 cow milk allergy 11.8
5 branchiootic syndrome 11.7
6 cakut 11.7
7 branchiootic syndrome 2 11.7
8 branchiootic syndrome 3 11.6
9 thrombocytopenia 11.6
10 branchiootorenal syndrome 1 11.5
11 branchiootorenal syndrome 11.5
12 branchiootorenal syndrome 2 11.3
13 thrombocytopenic purpura, autoimmune 11.3
14 pulmonary embolism 11.3
15 microtia-anotia 11.2
16 melorheostosis, isolated 11.1
17 pulmonary fibrosis, idiopathic 11.1
18 osteopetrosis, autosomal dominant 3 11.1
19 thrombotic thrombocytopenic purpura 11.1
20 stachybotrys chartarum 11.1
21 fraser syndrome 1 10.7
22 branchial cleft anomalies 10.6
23 bronchiolitis obliterans 10.6
24 bronchiolitis 10.6
25 branchiooculofacial syndrome 10.5
26 end stage renal disease 10.5
27 tick infestation 10.5
28 brucellosis 10.5
29 cleft palate, isolated 10.4
30 hemifacial microsomia 10.4
31 theileriasis 10.4
32 mastitis 10.4
33 diarrhea 10.4
34 mouth disease 10.4
35 branchiootorenal spectrum disorder 10.4
36 polycystic kidney disease 10.3
37 branchiootic syndrome 1 10.3
38 kidney disease 10.3
39 48,xyyy 10.3
40 townes-brocks syndrome 1 10.3
41 stickler syndrome, type i 10.3
42 commissural lip pits 10.3
43 otitis media 10.3
44 deafness, autosomal recessive 4, with enlarged vestibular aqueduct 10.3
45 deafness, autosomal dominant 10 10.3
46 orthostatic intolerance 10.3
47 deafness, autosomal dominant 23 10.3
48 patent ductus arteriosus 1 10.3
49 joint laxity, short stature, and myopia 10.3
50 townes-brocks syndrome 10.3

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

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


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Azithromycin Approved Phase 3 83905-01-5 447043 55185
2 Anti-Bacterial Agents Phase 3
3 Anti-Infective Agents Phase 3

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Evaluation of the Efficacy of Azithromycin to Prevent Bronchiolitis Obliterans Syndrome After Allogeneic Hematopoietic Stem Cell Transplantation Active, not recruiting NCT01959100 Phase 3 Azithromycin;Placebo

Search 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 29

Anatomical Context for Branchiootorenal/branchiootic Syndrome

MalaCards organs/tissues related to Branchiootorenal/branchiootic Syndrome:

40
Bone, Kidney, Skin, Tonsil

Publications for Branchiootorenal/branchiootic Syndrome

Articles related to Branchiootorenal/branchiootic Syndrome:

# Title Authors PMID Year
1
Branchiootorenal Spectrum Disorder 6
20301554 1999
2
Familial Interstitial 6q23.2 Deletion Including Eya4 Associated With Otofaciocervical Syndrome. 61
31379922 2019
3
Using Xenopus to discover new genes involved in branchiootorenal spectrum disorders. 61
26117063 2015

Variations for Branchiootorenal/branchiootic Syndrome

ClinVar genetic disease variations for Branchiootorenal/branchiootic Syndrome:

6 (show all 24) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 EYA1 NM_172059.5(EYA1):c.34-5589A>GSNV Uncertain significance 363679 rs886063095 8:72274335-72274335 8:71362100-71362100
2 EYA1 NM_172059.5(EYA1):c.34-5669_34-5668dupduplication Uncertain significance 363682 rs35320129 8:72274390-72274391 8:71362155-71362156
3 EYA1 NM_172059.5(EYA1):c.34-5670C>ASNV Uncertain significance 363683 rs886063099 8:72274416-72274416 8:71362181-71362181
4 EYA1 NM_000503.6(EYA1):c.*1135_*1138dupduplication Uncertain significance 363633 rs886063085 8:72110436-72110437 8:71198201-71198202
5 EYA1 NM_000503.6(EYA1):c.*901dupduplication Uncertain significance 363634 rs570995924 8:72110673-72110674 8:71198438-71198439
6 EYA1 NM_000503.6(EYA1):c.*770_*773dupduplication Uncertain significance 363638 rs371488223 8:72110801-72110802 8:71198566-71198567
7 EYA1 NM_172059.5(EYA1):c.34-5644_34-5643deldeletion Uncertain significance 363680 rs886063096 8:72274389-72274390 8:71362154-71362155
8 EYA1 NM_172059.5(EYA1):c.34-5646_34-5645deldeletion Uncertain significance 363681 rs35320129 8:72274391-72274392 8:71362156-71362157
9 EYA1 NM_172059.5(EYA1):c.34-5671C>ASNV Uncertain significance 363684 rs886063100 8:72274417-72274417 8:71362182-71362182
10 EYA1 NM_000503.6(EYA1):c.*1372_*1375dupduplication Uncertain significance 363626 rs142792208 8:72110199-72110200 8:71197964-71197965
11 SIX1 NM_005982.4(SIX1):c.*268_*271CAAA[2]short repeat Uncertain significance 313461 rs886050570 14:61112722-61112725 14:60646004-60646007
12 SIX1 NM_005982.4(SIX1):c.*1571T>CSNV Uncertain significance 313441 rs886050567 14:61111430-61111430 14:60644712-60644712
13 SIX1 NM_005982.4(SIX1):c.*1268_*1269AT[1]short repeat Uncertain significance 313443 rs3832952 14:61111730-61111731 14:60645012-60645013
14 SIX1 NM_005982.4(SIX1):c.*765_*766deldeletion Uncertain significance 313451 rs33943216 14:61112235-61112236 14:60645517-60645518
15 SIX1 NM_005982.4(SIX1):c.*578_*581deldeletion Likely benign 313455 rs556041829 14:61112420-61112423 14:60645702-60645705
16 SIX1 NM_005982.4(SIX1):c.-255G>TSNV Likely benign 369075 rs79926530 14:61116162-61116162 14:60649444-60649444
17 EYA1 NM_000503.5(EYA1):c.*1914T>GSNV Likely benign 369614 rs112480709 8:72109661-72109661 8:71197426-71197426
18 SIX1 NM_005982.4(SIX1):c.*1008deldeletion Likely benign 313446 rs148821608 14:61111993-61111993 14:60645275-60645275
19 SIX1 NM_005982.4(SIX1):c.*883_*889CTAGTTT[1]short repeat Likely benign 313448 rs561797428 14:61112105-61112111 14:60645387-60645393
20 EYA1 NM_000503.6(EYA1):c.*1217_*1219TTA[1]short repeat Likely benign 363631 rs574723016 8:72110353-72110355 8:71198118-71198120
21 EYA1 NM_000503.6(EYA1):c.*1561_*1564ATCA[3]short repeat Likely benign 363625 rs553875263 8:72110006-72110007 8:71197771-71197772
22 EYA1 NM_000503.6(EYA1):c.*509_*512deldeletion Benign 363641 rs146202037 8:72111063-72111066 8:71198828-71198831
23 SIX1 NM_005982.4(SIX1):c.*265deldeletion Benign 313462 rs112733948 14:61112736-61112736 14:60646018-60646018
24 SIX1 NM_005982.4(SIX1):c.*766deldeletion Benign 313450 rs33943216 14:61112235-61112235 14:60645517-60645517

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
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35 IUPHAR
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43 MeSH
44 MESH via Orphanet
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48 NCI
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50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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