BOR
MCID: BRN121
MIFTS: 25

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 72
Branchio-Otorenal Dysplasia 25
Branchiootorenal Dysplasia 25
Branchio-Otorenal Syndrome 25
Branchiootorenal Syndrome 25
Melnick-Fraser Syndrome 25
Branchiootic Syndrome 1 72
Branchiootic Syndrome 25
Bor Syndrome 25
Bo Syndrome 25
Bos 25
Bor 25

Classifications:



External Ids:

UMLS 72 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 drug Azithromycin has been mentioned in the context of this disorder. Affiliated tissues include skin, bone and kidney.

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 270)
# 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 11.6
8 branchiootic syndrome 3 11.6
9 thrombocytopenia 11.6
10 bronchiolitis obliterans 11.5
11 branchiootorenal syndrome 1 11.5
12 branchiootorenal syndrome 11.5
13 branchiootorenal syndrome 2 11.3
14 thrombocytopenic purpura, autoimmune 11.3
15 pulmonary embolism 11.3
16 microtia-anotia 11.2
17 melorheostosis, isolated 11.1
18 pulmonary fibrosis, idiopathic 11.1
19 osteopetrosis, autosomal dominant 3 11.1
20 thrombotic thrombocytopenic purpura 11.1
21 stachybotrys chartarum 11.1
22 fraser syndrome 1 10.7
23 branchial cleft anomalies 10.6
24 bronchiolitis 10.6
25 branchiooculofacial syndrome 10.5
26 end stage renal failure 10.5
27 brucellosis 10.5
28 tick infestation 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 10.3
36 48,xyyy 10.3
37 polycystic kidney disease 10.3
38 branchiootic syndrome 1 10.3
39 kidney disease 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 townes-brocks syndrome 10.3
50 spastic diplegia 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

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:

41
Skin, Bone, Kidney, Tonsil

Publications for Branchiootorenal/branchiootic Syndrome

Articles related to Branchiootorenal/branchiootic Syndrome:

# Title Authors PMID Year
1
Branchiootorenal Spectrum Disorder 71
20301554 1999
2
Familial Interstitial 6q23.2 Deletion Including Eya4 Associated With Otofaciocervical Syndrome. 38
31379922 2019
3
Using Xenopus to discover new genes involved in branchiootorenal spectrum disorders. 38
26117063 2015

Variations for Branchiootorenal/branchiootic Syndrome

ClinVar genetic disease variations for Branchiootorenal/branchiootic Syndrome:

6 (show top 50) (show all 114)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 EYA1 NM_000503.6(EYA1): c.1276G> A (p.Gly426Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs121909199 8:72129011-72129011 8:71216776-71216776
2 EYA1 NM_000503.6(EYA1): c.164C> T (p.Thr55Met) single nucleotide variant Conflicting interpretations of pathogenicity rs201434219 8:72246370-72246370 8:71334135-71334135
3 EYA1 NM_000503.6(EYA1): c.1699-8T> C single nucleotide variant Conflicting interpretations of pathogenicity rs201537030 8:72111663-72111663 8:71199428-71199428
4 EYA1 NM_000503.6(EYA1): c.1460C> T (p.Ser487Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs139717960 8:72127864-72127864 8:71215629-71215629
5 EYA1 NM_000503.6(EYA1): c.890G> A (p.Arg297Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs148647933 8:72184069-72184069 8:71271834-71271834
6 EYA1 NM_000503.6(EYA1): c.783G> A (p.Pro261=) single nucleotide variant Uncertain significance rs146648560 8:72211325-72211325 8:71299090-71299090
7 EYA1 NM_000503.6(EYA1): c.*545C> T single nucleotide variant Uncertain significance rs886063086 8:72111030-72111030 8:71198795-71198795
8 EYA1 NM_000503.6(EYA1): c.*117G> A single nucleotide variant Uncertain significance rs886063087 8:72111458-72111458 8:71199223-71199223
9 EYA1 NM_000503.6(EYA1): c.-75G> C single nucleotide variant Uncertain significance rs558296770 8:72273902-72273902 8:71361667-71361667
10 EYA1 NM_000503.6(EYA1): c.-155G> A single nucleotide variant Uncertain significance rs886063090 8:72273982-72273982 8:71361747-71361747
11 EYA1 NM_000503.6(EYA1): c.-173G> T single nucleotide variant Uncertain significance rs886063091 8:72274000-72274000 8:71361765-71361765
12 EYA1 NM_000503.6(EYA1): c.-192G> A single nucleotide variant Uncertain significance rs886063092 8:72274019-72274019 8:71361784-71361784
13 EYA1 NM_000503.5(EYA1): c.-563_-562delGA deletion Uncertain significance rs886063096 8:72274389-72274390 8:71362154-71362155
14 EYA1 NM_000503.5(EYA1): c.-565_-564delAA deletion Uncertain significance rs35320129 8:72274391-72274392 8:71362156-71362157
15 EYA1 NM_000503.5(EYA1): c.-590C> A single nucleotide variant Uncertain significance rs886063100 8:72274417-72274417 8:71362182-71362182
16 EYA1 NM_000503.6(EYA1): c.557-12A> G single nucleotide variant Uncertain significance rs373445545 8:72211967-72211967 8:71299732-71299732
17 EYA1 NM_000503.6(EYA1): c.*1672T> A single nucleotide variant Uncertain significance rs777991930 8:72109903-72109903 8:71197668-71197668
18 EYA1 NM_000503.6(EYA1): c.*1598A> C single nucleotide variant Uncertain significance rs886063084 8:72109977-72109977 8:71197742-71197742
19 EYA1 NM_000503.6(EYA1): c.*442G> A single nucleotide variant Uncertain significance rs767388665 8:72111133-72111133 8:71198898-71198898
20 EYA1 NM_000503.6(EYA1): c.203-15G> T single nucleotide variant Uncertain significance rs772006212 8:72234518-72234518 8:71322283-71322283
21 EYA1 NM_000503.6(EYA1): c.196G> T (p.Gly66Cys) single nucleotide variant Uncertain significance rs886063089 8:72246338-72246338 8:71334103-71334103
22 EYA1 NM_000503.6(EYA1): c.159T> C (p.Ala53=) single nucleotide variant Uncertain significance rs768443449 8:72246375-72246375 8:71334140-71334140
23 EYA1 NM_000503.6(EYA1): c.-47C> A single nucleotide variant Uncertain significance rs760164698 8:72268739-72268739 8:71356504-71356504
24 EYA1 NM_000503.6(EYA1): c.-326G> T single nucleotide variant Uncertain significance rs551597748 8:72274153-72274153 8:71361918-71361918
25 EYA1 NM_000503.6(EYA1): c.*1372_*1375dup duplication Uncertain significance rs142792208 8:72110200-72110203 8:71197965-71197968
26 EYA1 NM_000503.6(EYA1): c.*848G> A single nucleotide variant Uncertain significance rs775498240 8:72110727-72110727 8:71198492-71198492
27 EYA1 NM_000503.6(EYA1): c.630T> C (p.Ser210=) single nucleotide variant Uncertain significance rs373102227 8:72211882-72211882 8:71299647-71299647
28 EYA1 NM_000503.6(EYA1): c.325T> C (p.Tyr109His) single nucleotide variant Uncertain significance rs141779040 8:72234062-72234062 8:71321827-71321827
29 EYA1 NM_000503.6(EYA1): c.*1135_*1138dup duplication Uncertain significance rs886063085 8:72110437-72110440 8:71198202-71198205
30 EYA1 NM_000503.6(EYA1): c.*901dup duplication Uncertain significance rs570995924 8:72110674-72110674 8:71198439-71198439
31 EYA1 NM_000503.6(EYA1): c.*770_*773dup duplication Uncertain significance rs371488223 8:72110802-72110805 8:71198567-71198570
32 EYA1 NM_000503.6(EYA1): c.556+5G> C single nucleotide variant Uncertain significance rs886063088 8:72229782-72229782 8:71317547-71317547
33 EYA1 NM_000503.6(EYA1): c.-242T> G single nucleotide variant Uncertain significance rs886063093 8:72274069-72274069 8:71361834-71361834
34 EYA1 NM_000503.6(EYA1): c.-263C> T single nucleotide variant Uncertain significance rs146081509 8:72274090-72274090 8:71361855-71361855
35 EYA1 NM_000503.6(EYA1): c.-429G> A single nucleotide variant Uncertain significance rs886063094 8:72274256-72274256 8:71362021-71362021
36 EYA1 NM_000503.5(EYA1): c.-508A> G single nucleotide variant Uncertain significance rs886063095 8:72274335-72274335 8:71362100-71362100
37 EYA1 NM_000503.5(EYA1): c.-565_-564dupAA duplication Uncertain significance rs35320129 8:72274391-72274392 8:71362156-71362157
38 EYA1 NM_000503.5(EYA1): c.-589C> A single nucleotide variant Uncertain significance rs886063099 8:72274416-72274416 8:71362181-71362181
39 EYA1 NM_000503.6(EYA1): c.299C> A (p.Thr100Asn) single nucleotide variant Uncertain significance rs373501480 8:72234088-72234088 8:71321853-71321853
40 EYA1 NM_000503.6(EYA1): c.1701C> T (p.His567=) single nucleotide variant Uncertain significance rs763080811 8:72111653-72111653 8:71199418-71199418
41 SIX1 NM_005982.4(SIX1): c.*755T> G single nucleotide variant Uncertain significance rs868568764 14:61112246-61112246 14:60645528-60645528
42 SIX1 NM_005982.4(SIX1): c.*268_*271CAAA[2] short repeat Uncertain significance rs886050570 14:61112722-61112725 14:60646004-60646007
43 SIX1 NM_005982.4(SIX1): c.*161C> A single nucleotide variant Uncertain significance rs886050571 14:61112840-61112840 14:60646122-60646122
44 SIX1 NM_005982.4(SIX1): c.-14G> T single nucleotide variant Uncertain significance rs374228886 14:61115921-61115921 14:60649203-60649203
45 SIX1 NM_005982.4(SIX1): c.-184A> C single nucleotide variant Uncertain significance rs187402923 14:61116091-61116091 14:60649373-60649373
46 SIX1 NM_005982.4(SIX1): c.-213C> G single nucleotide variant Uncertain significance rs771815597 14:61116120-61116120 14:60649402-60649402
47 SIX1 NM_005982.4(SIX1): c.*1571T> C single nucleotide variant Uncertain significance rs886050567 14:61111430-61111430 14:60644712-60644712
48 SIX1 NM_005982.4(SIX1): c.-161G> C single nucleotide variant Uncertain significance rs886050573 14:61116068-61116068 14:60649350-60649350
49 SIX1 NM_005982.4(SIX1): c.-185T> C single nucleotide variant Uncertain significance rs745791461 14:61116092-61116092 14:60649374-60649374
50 SIX1 NM_005982.4(SIX1): c.*736T> G single nucleotide variant Uncertain significance rs768828257 14:61112265-61112265 14:60645547-60645547

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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