MCID: BRN108
MIFTS: 37

Branchiootic Syndrome 1

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

Aliases & Classifications for Branchiootic Syndrome 1

MalaCards integrated aliases for Branchiootic Syndrome 1:

Name: Branchiootic Syndrome 1 57 75 13 73
Anterior Segment Anomalies with or Without Cataract 57 75 29 13
Bo Syndrome 1 57 75
Deafness 44 40
Bos1 57 75
Branchiootic Syndrome, Type 1 40
Branchio-Otic Dysplasia 1 75
Branchio-Otic Syndrome 1 75
Branchiootic Dysplasia 57
Asa 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
variable expressivity
incomplete penetrance
onset of hearing loss ranges from childhood to young adulthood
genetic heterogeneity, see bos2 and bos3
allelic disorder to branchiootorenal syndrome (bor, ) and otofaciocervical syndrome


HPO:

32
branchiootic syndrome 1:
Onset and clinical course variable expressivity incomplete penetrance
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Branchiootic Syndrome 1

UniProtKB/Swiss-Prot : 75 Anterior segment anomalies with or without cataract: A disease characterized by various types of developmental eye anomalies, in the absence of other abnormalities. The phenotypic spectrum of anterior segment anomalies include central corneal opacity, Peters anomaly, and bilateral persistence of the pupillary membrane. Some patients have cataract. Branchiootic syndrome 1: A syndrome characterized by usually bilateral branchial cleft fistulas or cysts, sensorineural and/or conductive hearing loss, pre-auricular pits, and structural defects of the outer, middle or inner ear. Otic defects include malformed and hypoplastic pinnae, a narrowed external ear canal, bulbous internal auditory canal, stapes fixation, malformed and hypoplastic cochlea. Branchial and otic anomalies overlap with those seen in individuals with the branchiootorenal syndrome. However renal anomalies are absent in branchiootic syndrome patients.

MalaCards based summary : Branchiootic Syndrome 1, also known as anterior segment anomalies with or without cataract, is related to autosomal dominant nonsyndromic deafness and nonsyndromic deafness. An important gene associated with Branchiootic Syndrome 1 is EYA1 (EYA Transcriptional Coactivator And Phosphatase 1). The drugs Buprenorphine and Hydrocortisone have been mentioned in the context of this disorder. Affiliated tissues include eye, and related phenotypes are retrognathia and low-set ears

OMIM : 57 Individuals with the BO syndrome are affected by the same branchial and otic anomalies as those seen in individuals with the branchiootorenal syndrome (see BOR1, 113650), but lack renal anomalies (Vincent et al., 1997). Although Melnick et al. (1978) maintained that the BO syndrome is distinct from the BOR syndrome because of the lack of renal anomalies and variable presence of deafness in the former, Cremers and Fikkers-van Noord (1980) suggested that the 2 syndromes represent a single entity. See 113600 for a discussion of branchial cleft anomalies, which may be related. (602588)

Related Diseases for Branchiootic Syndrome 1

Diseases in the Branchiootic Syndrome family:

Branchiootic Syndrome 2 Branchiootic Syndrome 1
Branchiootic Syndrome 3

Diseases related to Branchiootic Syndrome 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 738)
# Related Disease Score Top Affiliating Genes
1 autosomal dominant nonsyndromic deafness 32.2 EYA1 GJB2
2 nonsyndromic deafness 31.6 GJB2 LOXHD1
3 autosomal recessive non-syndromic sensorineural deafness type dfnb 31.5 GJB2 LOXHD1
4 non-syndromic genetic deafness 31.5 GJB2 LOXHD1
5 deafness, autosomal recessive 31.2 GJB2 LOXHD1
6 deafness, x-linked 2 12.2
7 keratoderma, palmoplantar, with deafness 12.2
8 diabetes and deafness, maternally inherited 12.1
9 cerebellar ataxia, deafness, and narcolepsy, autosomal dominant 12.1
10 keratitis-ichthyosis-deafness syndrome, autosomal dominant 12.1
11 deafness-infertility syndrome 12.1
12 deafness, autosomal recessive 1a 12.1
13 deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures syndrome 12.1
14 hypoparathyroidism, sensorineural deafness, and renal disease 12.1
15 seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance 12.1
16 3-methylglutaconic aciduria with deafness, encephalopathy, and leigh-like syndrome 12.1
17 deafness, congenital, with inner ear agenesis, microtia, and microdontia 12.1
18 tietz albinism-deafness syndrome 12.1
19 deafness and myopia 12.1
20 corneal dystrophy and perceptive deafness 12.1
21 craniofacial-deafness-hand syndrome 12.1
22 deafness, autosomal recessive 4, with enlarged vestibular aqueduct 12.1
23 renal tubular acidosis, distal, with progressive nerve deafness 12.1
24 deafness, autosomal recessive 8 12.0
25 albinism-deafness syndrome 12.0
26 albinism, ocular, with late-onset sensorineural deafness 12.0
27 deafness, autosomal dominant 6 12.0
28 yemenite deaf-blind hypopigmentation syndrome 12.0
29 mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome 12.0
30 deafness, autosomal recessive 15 12.0
31 deafness, autosomal dominant 22 12.0
32 deafness, autosomal dominant 9 12.0
33 deafness, congenital, with onychodystrophy, autosomal dominant 12.0
34 cortical deafness 12.0
35 deafness, autosomal recessive 84a 12.0
36 deafness, autosomal recessive 36, with or without vestibular involvement 12.0
37 deafness, autosomal recessive 2 12.0
38 deafness, autosomal recessive 6 12.0
39 deafness, autosomal recessive 7 12.0
40 deafness, autosomal dominant 12 12.0
41 albinism, ocular, with sensorineural deafness 12.0
42 deafness, autosomal recessive 9 12.0
43 deafness, autosomal recessive 12 12.0
44 deafness, autosomal recessive 93 12.0
45 deafness, autosomal dominant 1 12.0
46 deafness, autosomal dominant 4a 12.0
47 deafness, autosomal dominant 20 12.0
48 deafness, autosomal recessive 1b 12.0
49 deafness, autosomal dominant 25 12.0
50 deafness, autosomal dominant 36 12.0

Graphical network of the top 20 diseases related to Branchiootic Syndrome 1:



Diseases related to Branchiootic Syndrome 1

Symptoms & Phenotypes for Branchiootic Syndrome 1

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Ears:
low-set ears
microtia
conductive hearing loss
preauricular pits
sensorineural hearing loss
more
Head And Neck Neck:
branchial cleft fistulas or cysts, usually bilateral

Head And Neck Face:
retrognathia


Clinical features from OMIM:

602588

Human phenotypes related to Branchiootic Syndrome 1:

32 (show all 11)
# Description HPO Frequency HPO Source Accession
1 retrognathia 32 HP:0000278
2 low-set ears 32 HP:0000369
3 cupped ear 32 HP:0000378
4 sensorineural hearing impairment 32 HP:0000407
5 mixed hearing impairment 32 HP:0000410
6 dilatated internal auditory canal 32 HP:0004458
7 preauricular pit 32 HP:0004467
8 microtia 32 HP:0008551
9 cochlear malformation 32 HP:0008554
10 hypoplasia of the cochlea 32 HP:0008586
11 branchial fistula 32 HP:0009795

Drugs & Therapeutics for Branchiootic Syndrome 1

Drugs for Branchiootic Syndrome 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 25)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Buprenorphine Approved, Illicit, Investigational, Vet_approved Phase 1 52485-79-7 40400 644073
2
Hydrocortisone Approved, Vet_approved Phase 1 50-23-7 5754
3
Morphine Approved, Investigational Phase 1 57-27-2 5288826
4
Naloxone Approved, Vet_approved Phase 1 465-65-6 5284596
5
Yohimbine Approved, Investigational, Vet_approved Phase 1 146-48-5 8969
6
Butyric Acid Experimental, Investigational Phase 1 107-92-6 264
7 Adrenergic Agents Phase 1
8 Adrenergic alpha-Antagonists Phase 1
9 Adrenergic Antagonists Phase 1
10 Analgesics Phase 1
11 Analgesics, Opioid Phase 1
12 Anti-Inflammatory Agents Phase 1
13 Autonomic Agents Phase 1
14 Buprenorphine, Naloxone Drug Combination Phase 1
15 Central Nervous System Depressants Phase 1
16 Cortisol succinate Phase 1
17 Hydrocortisone 17-butyrate 21-propionate Phase 1
18 Hydrocortisone acetate Phase 1
19 Hydrocortisone-17-butyrate Phase 1
20 Mydriatics Phase 1
21 Narcotic Antagonists Phase 1
22 Narcotics Phase 1
23 Neurotransmitter Agents Phase 1
24 Peripheral Nervous System Agents Phase 1
25 Yohimbe Nutraceutical Phase 1

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Effects of Buprenorphine/Naloxone Dose on Experimental Stress Reactivity and Opioid Abstinence Recruiting NCT03015246 Phase 1 Buprenorphine-Naloxone;Morphine;Yohimbine;Hydrocortisone;Matching Placebo for Yohimbine;Matching Placebo for Hydrocortisone
2 Microparticles and Bronchiolitis Obliterans Syndrome Recruiting NCT02458274

Search NIH Clinical Center for Branchiootic Syndrome 1

Cochrane evidence based reviews: deafness

Genetic Tests for Branchiootic Syndrome 1

Genetic tests related to Branchiootic Syndrome 1:

# Genetic test Affiliating Genes
1 Anterior Segment Anomalies with or Without Cataract 29

Anatomical Context for Branchiootic Syndrome 1

MalaCards organs/tissues related to Branchiootic Syndrome 1:

41
Eye

Publications for Branchiootic Syndrome 1

Variations for Branchiootic Syndrome 1

UniProtKB/Swiss-Prot genetic disease variations for Branchiootic Syndrome 1:

75
# Symbol AA change Variation ID SNP ID
1 EYA1 p.Glu363Lys VAR_016864 rs121909198
2 EYA1 p.Arg547Gly VAR_016868 rs121909197
3 EYA1 p.Ser242Gly VAR_044452 rs191838840

ClinVar genetic disease variations for Branchiootic Syndrome 1:

6
(show all 20)
# Gene Variation Type Significance SNP ID Assembly Location
1 EYA1 EYA1, 2-BP INS, 870GT insertion Pathogenic
2 EYA1 EYA1, 8-BP DEL, NT297 deletion Pathogenic
3 EYA1 NM_000503.5(EYA1): c.1081C> T (p.Arg361Ter) single nucleotide variant Pathogenic rs121909202 GRCh37 Chromosome 8, 72156897: 72156897
4 EYA1 NM_000503.5(EYA1): c.1081C> T (p.Arg361Ter) single nucleotide variant Pathogenic rs121909202 GRCh38 Chromosome 8, 71244662: 71244662
5 EYA1 NM_000503.5(EYA1): c.1501_1507delACAACTA (p.Thr501Leufs) deletion Pathogenic rs606231356 GRCh38 Chromosome 8, 71215477: 71215483
6 EYA1 NM_000503.5(EYA1): c.1501_1507delACAACTA (p.Thr501Leufs) deletion Pathogenic rs606231356 GRCh37 Chromosome 8, 72127712: 72127718
7 GJB2 NM_004004.5(GJB2): c.35delG (p.Gly12Valfs) deletion Pathogenic rs80338939 GRCh37 Chromosome 13, 20763686: 20763686
8 GJB2 NM_004004.5(GJB2): c.35delG (p.Gly12Valfs) deletion Pathogenic rs80338939 GRCh38 Chromosome 13, 20189547: 20189547
9 TRIOBP NM_001039141.2(TRIOBP): c.4031G> A (p.Arg1344Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs34066624 GRCh37 Chromosome 22, 38129388: 38129388
10 TRIOBP NM_001039141.2(TRIOBP): c.4031G> A (p.Arg1344Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs34066624 GRCh38 Chromosome 22, 37733381: 37733381
11 EPS8 NM_004447.5(EPS8): c.1330T> C (p.Phe444Leu) single nucleotide variant Uncertain significance rs139258361 GRCh38 Chromosome 12, 15650927: 15650927
12 EPS8 NM_004447.5(EPS8): c.1330T> C (p.Phe444Leu) single nucleotide variant Uncertain significance rs139258361 GRCh37 Chromosome 12, 15803861: 15803861
13 EYA1 NM_000503.5(EYA1): c.1615G> T (p.Glu539Ter) single nucleotide variant Likely pathogenic rs1060499603 GRCh37 Chromosome 8, 72123474: 72123474
14 EYA1 NM_000503.5(EYA1): c.1615G> T (p.Glu539Ter) single nucleotide variant Likely pathogenic rs1060499603 GRCh38 Chromosome 8, 71211239: 71211239
15 KARS NM_005548.2(KARS): c.1513C> T (p.Pro505Ser) single nucleotide variant no interpretation for the single variant GRCh38 Chromosome 16, 75629453: 75629453
16 KARS NM_005548.2(KARS): c.1513C> T (p.Pro505Ser) single nucleotide variant no interpretation for the single variant GRCh37 Chromosome 16, 75663351: 75663351
17 KARS NM_005548.2(KARS): c.1430G> A (p.Arg477His) single nucleotide variant no interpretation for the single variant rs778748895 GRCh38 Chromosome 16, 75629536: 75629536
18 KARS NM_005548.2(KARS): c.1430G> A (p.Arg477His) single nucleotide variant no interpretation for the single variant rs778748895 GRCh37 Chromosome 16, 75663434: 75663434
19 LOXHD1 NM_144612.6(LOXHD1): c.746G> A (p.Trp249Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 18, 44190752: 44190752
20 LOXHD1 NM_144612.6(LOXHD1): c.746G> A (p.Trp249Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 18, 46610789: 46610789

Copy number variations for Branchiootic Syndrome 1 from CNVD:

7 (show all 12)
# CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 101483 16 3862993 3941884 Deletion Deafness
2 118035 17 75300000 81195210 Gain or loss ACTG1 Deafness
3 118037 17 75300000 81195210 Gain or loss FSCN2 Deafness
4 163890 22 32200000 37600000 Gain or loss MYH9 Deafness
5 195551 5 152100000 155600000 Deletion AK124699 Deafness
6 195556 5 152100000 155600000 Deletion C5ORF21 Deafness
7 195561 5 152100000 155600000 Deletion C5ORF3 Deafness
8 195566 5 152100000 155600000 Deletion GALNT10 Deafness
9 195571 5 152100000 155600000 Deletion HAND1 Deafness
10 195576 5 152100000 155600000 Deletion MFAP3 Deafness
11 195581 5 152100000 155600000 Deletion NR2F1 Deafness
12 195586 5 152100000 155600000 Deletion SAP30L Deafness

Expression for Branchiootic Syndrome 1

Search GEO for disease gene expression data for Branchiootic Syndrome 1.

Pathways for Branchiootic Syndrome 1

GO Terms for Branchiootic Syndrome 1

Biological processes related to Branchiootic Syndrome 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 sensory perception of sound GO:0007605 8.8 EYA1 GJB2 LOXHD1

Sources for Branchiootic Syndrome 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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