Branchiootorenal/branchiootic Syndrome disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: BRN121 MIFTS: 19	Branchiootorenal/branchiootic Syndrome Categories: Nephrological diseases
Variations Tissues Related diseases Publications Expand all tables

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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:

MalaCards categories:
Anatomical: Nephrological diseases

See all MalaCards categories (disease lists)

External Ids:

UMLS ⁷⁴ C0265234 C1865143

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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.

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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
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:

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Symptoms & Phenotypes for Branchiootorenal/branchiootic Syndrome

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Drugs & Therapeutics for Branchiootorenal/branchiootic Syndrome

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

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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

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Anatomical Context for Branchiootorenal/branchiootic Syndrome

MalaCards organs/tissues related to Branchiootorenal/branchiootic Syndrome:

⁴²

Kidney, Eye, Spinal Cord, Neutrophil

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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 )	Moody SA...Pignoni F	2015

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Genes for Branchiootorenal/branchiootic Syndrome

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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

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Expression for Branchiootorenal/branchiootic Syndrome

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

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Pathways for Branchiootorenal/branchiootic Syndrome

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GO Terms for Branchiootorenal/branchiootic Syndrome

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Sources for Branchiootorenal/branchiootic Syndrome

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