MCID: BRN042
MIFTS: 39

Branchiootic Syndrome malady

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

Aliases & Classifications for Branchiootic Syndrome

About this section
Sources:
11Disease Ontology, 13DISEASES, 27GTR, 30ICD10, 31ICD10 via Orphanet, 48NIH Rare Diseases, 50Novoseek, 54Orphanet, 68UMLS
See all MalaCards sources

Aliases & Descriptions for Branchiootic Syndrome:

Name: Branchiootic Syndrome 11 48 13
Branchio-Otic Syndrome 54 27
Branchiootic Dysplasia 11 48
Bo Syndrome 11 50
 
Branchiootic Syndrome 1 68
Bo Syndrome 1 48
Bos1 48
Bor 11

Classifications:



External Ids:

Disease Ontology11 DOID:0060232
ICD1030 Q87.0
Orphanet54 ORPHA52429
ICD10 via Orphanet31 Q87.0

Summaries for Branchiootic Syndrome

About this section
Disease Ontology:11 A syndrome characterized by malformations of the outer, middle and inner ear and branchial and renal malformations. Mutations of the EYA1, SIX1 and SIX5 genes are associated with the syndrome.

MalaCards based summary: Branchiootic Syndrome, also known as branchio-otic syndrome, is related to branchiootic syndrome 1 and bor-duane hydrocephalus contiguous gene syndrome, and has symptoms including sacrococcygeal pilonidal abnormality, conductive hearing impairment and sensorineural hearing impairment. An important gene associated with Branchiootic Syndrome is EYA1 (EYA Transcriptional Coactivator And Phosphatase 1). Affiliated tissues include skin, and related mouse phenotype vision/eye.

Related Diseases for Branchiootic Syndrome

About this section

Graphical network of diseases related to Branchiootic Syndrome:



Diseases related to branchiootic syndrome

Symptoms & Phenotypes for Branchiootic Syndrome

About this section

Human phenotypes related to Branchiootic Syndrome:

 64 54 (show all 19)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 sacrococcygeal pilonidal abnormality64 hallmark (90%) HP:0010767
2 conductive hearing impairment64 54 typical (50%) Frequent (79-30%) HP:0000405
3 sensorineural hearing impairment64 54 typical (50%) Frequent (79-30%) HP:0000407
4 atresia of the external auditory canal64 54 typical (50%) Frequent (79-30%) HP:0000413
5 external ear malformation64 typical (50%) HP:0008572
6 branchial fistula64 54 typical (50%) Frequent (79-30%) HP:0009795
7 cleft palate64 54 occasional (7.5%) Occasional (29-5%) HP:0000175
8 facial asymmetry64 54 occasional (7.5%) Occasional (29-5%) HP:0000324
9 micrognathia64 54 occasional (7.5%) Occasional (29-5%) HP:0000347
10 preauricular skin tag64 54 occasional (7.5%) Occasional (29-5%) HP:0000384
11 lacrimation abnormality64 occasional (7.5%) HP:0000632
12 facial palsy64 54 occasional (7.5%) Occasional (29-5%) HP:0010628
13 lip pit64 54 occasional (7.5%) Occasional (29-5%) HP:0100267
14 abnormality of the outer ear54 Frequent (79-30%)
15 abnormality of the inner ear54 Frequent (79-30%)
16 preauricular pit54 Very frequent (99-80%)
17 morphological abnormality of the middle ear54 Frequent (79-30%)
18 hearing impairment54 Very frequent (99-80%)
19 abnormality of the nasolacrimal system54 Occasional (29-5%)

MGI Mouse Phenotypes related to Branchiootic Syndrome according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053918.5ERCC6, EYA1, SHARPIN, SIX1, SIX5, SIX6

Drugs & Therapeutics for Branchiootic Syndrome

About this section

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

(show all 25)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Morphineapproved, investigationalPhase 196057-27-25288826
Synonyms:
(-)(5.alpha.,6.alpha.)-7,8-Didehydro-4,5-epoxy-17-methylmorphinan-3,6-diol
(-)-Heroin hydrochloride
(-)-Morphine
(-)Morphine sulfate
(5R,6S,9R,13S,14R)-4,5-Epoxy-N-methyl-7-morphinen-3,6-diol
(5R,6S,9R,13S,14R)-4,5-epoxy-N-methyl-7-morphinen-3,6-diol
(5alpha,6alpha)-17-methyl-7,8-didehydro-4,5-epoxymorphinan-3,6-diol
(5alpha,6alpha)-7,8-Didehydro-4,5-epoxy-17-methylmorphinan-3,6-diol
(5alpha,6alpha)-Didehydro-4,5-epoxy-17-methylmorphinan-3,6-diol
(5alpha,6alpha)-didehydro-4,5-epoxy-17-methylmorphinan-3,6-diol
(5α,6α)-17-methyl-7,8-didehydro-4,5-epoxymorphinan-3,6-diol
(5α,6α)-didehydro-4,5-epoxy-17-methylmorphinan-3,6-diol
(7R,7AS,12BS)-3-METHYL-2,3,4,4A,7,7A-HEXAHYDRO-1H-4,12-METHANO[1]BENZOFURO[3,2-E]ISOQUINOLINE-7,9-DIOL
(7R,7AS,12bs)-3-methyl-2,3,4,4a,7,7a-hexahydro-1H-4,12-methano[1]benzofuro[3,2-e]isoquinoline-7,9-diol
(−)-morphine
17-methyl-7,8-didehydro-4,5alpha-epoxymorphinan-3,6alpha-diol
4,5alpha-Epoxy-17-methyl-7-morphinen-3,6alpha-diol
4-methyl-(13R,14S)-12-oxa-4-azapentacyclo[9.6.1.01,13.05,17.07,18]octadeca-7(18),8,10,15-tetraene-10,14-diol
47106-99-0
57-27-2
6211-15-0 (sulfate (2:1) (salt) pentahydrate)
64-31-3
64-31-3 (sulfate (2:1) (salt) anhydrous)
7,8-Didehydro-4,5-epoxy-17-methyl-morphinan-3,6-diol
7,8-Didehydro-4,5-epoxy-17-methylmorphinan-3,6-diol
8053-16-5
85201-37-2
Apokyn
Astramorph PF
Avinza
BIDD:GT0147
C01516
CCRIS 5762
CHEBI:17303
CHEMBL70
CID5288826
Cube juice
D-(-)-Morphine
DB00295
DEA No. 9300
DepoDur
Depodur
Diacetylmorphine hydrochloride
Diamorphine hydrochloride
Dolcontin
Dreamer
Dulcontin
Duramorph PF
Duromorph
EINECS 200-320-2
Epimorph
HSDB 2134
Hard stuff
Heroin hydrochloride
Heroine hydrochloride
Hocus
 
Infumorph
Kadian
LS-91748
M-Eslon
M.O.S
MOI
MORPHINE SULFATE
MORPHINE, (5A,6A)-7,8-DIDEHYDRO-4,5-EPOXY-17-METHYLMORPHINIAN-3,6-DIOL, MORPHIUM, MORPHIA, DOLCONTIN, DUROMORPH, MORPHINA, NEPENTHE
MS Contin
MS/L
MS/S
MSIR
Meconium
MolPort-003-849-273
Morfina
Morfina [Italian]
Morphia
Morphin
Morphin [German]
Morphina
Morphina [Italian]
Morphine Extra-Forte
Morphine Forte
Morphine H.P
Morphine Sulfate
Morphine [BAN]
Morphinism
Morphinum
Morphitec
Morphium
Morpho
Moscontin
Ms Contin
Ms Emma
NSC11441
Nepenthe
O,O'-Diacetylmorphine hydrochloride
OMS Concentrate
Oramorph SR
Ospalivina
RMS
RMS Uniserts
Rescudose
Roxanol
Roxanol 100
Roxanol UD
SDZ 202-250
SDZ202-250
Statex
Statex Drops
Statex SR
UNII-76I7G6D29C
Unkie
l-Morphine
morfina
morphine
nchembio.317-comp1
nchembio.64-comp1
2
Naloxoneapproved, vet_approvedPhase 1243465-65-65284596
Synonyms:
(-)-N-allyl-14-hydroxynordihydroxymorphinan-6-one
(-)-Naloxone
(5alpha)-3,14-dihydroxy-17-prop-2-en-1-yl-4,5-epoxymorphinan-6-one
(5alpha)-4,5-Epoxy-3,14-dihydroxy-17-(2-propenyl)morphinan-6-one
1-N-Allyl-14-hydroxynordihydromorphinone
1-N-Allyl-7,8-dihydro-14-hydroxynormorphinone
12-Allyl-7,7a,8,9-tetrahydro-3,7a-dihydroxy-4aH-8,9c-iminoethanophenanthro(4,5-bcd)furanone
12-Allyl-7,7a,8,9-tetrahydro-3,7a-dihydroxy-4aH-8,9c-iminoethanophenanthro[4,5-bcd]furan-5(6H)-one
17-Allyl-3,14-dihydroxy-4,5alpha-epoxymorphinan-6-one
17-Allyl-4,5-alpha-epoxy-3,14-dihydroxymorphinan-6-one
17-Allyl-4,5alpha-epoxy-3,14-dihydroxymorphinan-6-one
17-allyl-3,14-dihydroxy-4,5alpha-epoxymorphinan-6-one
3,14-dihydroxy-17-(prop-2-en-1-yl)-4,5alpha-epoxymorphinan-6-one
357-08-4 (hydrochloride)
465-65-6
BIDD:GT0110
BPBio1_000136
BRD-K67511046-003-03-7
BRN 1089071
BSPBio_000122
C07252
CHEBI:7459
CHEMBL80
CID5284596
D08249
DB01183
DBL Naloxone
DBL Naloxone (TN)
EINECS 207-365-7
EN 1530 Base
EN 1530 base
HMS2090F20
HSDB 3279
L-Naloxone
LS-187184
LS-92141
 
MolPort-002-536-640
Morphinan-6-one, 17-allyl-4,5alpha-epoxy-3,14-dihydroxy- (8CI)
Morphinan-6-one, 4,5-epoxy-3,14-dihydroxy-17-(2-propenyl)-, (5alpha)- (9CI)
N-Allyl-4,5alpha-epoxy-3,14-dihydroxy-6-morphinanon
N-Allyl-noroxymorphone
N-Allylnoroxymorphone
NCGC00024674-02
NSC 70413
NSC70413
Nalone
Nalossone
Nalossone [DCIT]
Nalossone [Dcit]
Naloxona
Naloxona [INN-Spanish]
Naloxone
Naloxone (INN)
Naloxone HCl
Naloxone [INN:BAN]
Naloxonum
Naloxonum [INN-Latin]
Narcan
Narcanti
Narcon
PDSP2_001520
Prestwick0_000111
Prestwick1_000111
Prestwick2_000111
Prestwick3_000111
SMP1_000205
SPBio_002061
STOCK1N-69923
UNII-36B82AMQ7N
l-N-Allyl-14-hydroxynordihydromorphinone
l-N-Allyl-7,8-dihydro-14-hydroxynormorphinone
l-Naloxone
n-Allylnoroxymorphone
naloxone
3
Yohimbineapproved, vet_approvedPhase 127146-48-58969
Synonyms:
(+)-Yohimbin
(+)-Yohimbine
(+)-yohimbine
(16alpha,17alpha)-17-Hydroxy-yohimban-16-carboxylic acid methyl ester
(16alpha,17alpha)-17-Hydroxyyohimban-16-carboxylic acid methyl ester
(16alpha,17alpha)-17-hydroxyyohimban-16-carboxylic acid methyl ester
146-48-5
17-Hydroxy-yohimbane-16-carboxylic acid methyl ester
17-Hydroxyyohimban-16-carboxylic acid methyl ester
17alpha-Hydroxyyohimban-16alpha-carboxylic acid methyl ester
17alpha-hydroxyyohimban-16alpha-carboxylic acid methyl ester
2-Hydroxy-1,2,3,4,4a,5,7,8,13,13b,14,14a-dodecahydro-indolo[2',3':3,4]pyrido[1,2-b]isoquinoline-1-carboxylic acid methyl ester
4-25-00-01237 (Beilstein Handbook Reference)
65-19-0
AC1L1S1D
APHRODINE
Actibine
Aphrodine
Aphrodyne
Aphrosol
BCBcMAP01_000032
BPBio1_000472
BRD-K35586044-001-02-6
BRD-K35586044-003-03-0
BRN 0097276
BSPBio_000428
BSPBio_001236
Baron-X
Benz[g]indolo[2,3-a]quinolizine, yohimban-16-carboxylic acid deriv.
Bio1_000455
Bio1_000944
Bio1_001433
Bio2_000458
Bio2_000938
C09256
CHEBI:10093
CHEMBL15245
CID8969
Corynine
D08685
DB01392
Dayto himbin
EINECS 205-672-0
HMS1362N17
HMS1792N17
HMS1990N17
HMS2089G19
I14-13374
IDI1_002213
 
InChI=1/C21H26N2O3/c1-26-21(25)19-15-10-17-20-14(13-4-2-3-5-16(13)22-20)8-9-23(17)11-12(15)6-7-18(19)24/h2-5,12,15,17-19,22,24H,6-11H2,1H3/t12?,15?,17?,18-,19+/m0/s
Johimbin
KBio2_000576
KBio2_003144
KBio2_005712
KBio3_001031
KBio3_001032
KBioGR_000576
KBioSS_000576
LS-162738
Lopac0_001210
MLS000728591
MLS001333983
MolPort-001-794-653
NCGC00025018-05
NCGC00025018-06
NCGC00025018-07
NSC19509
Prestwick0_000584
Prestwick1_000584
Prestwick2_000584
Prestwick3_000584
Quebrachin
Quebrachine
SMP1_000320
SMR000058527
SMR000470778
SPBio_002647
STOCK1N-51304
Thybine
UNII-2Y49VWD90Q
Yocon
Yohimar
Yohimban-16-.alpha.-carboxylic acid, 17-.alpha.-hydroxy-, methyl ester
Yohimban-16-alpha-carboxylic acid, 17-alpha-hydroxy-, methyl ester
Yohimban-16-carboxylic acid, 17-hydroxy-, methyl ester, (16alpha,17alpha)- (9CI)
Yohimban-16alpha-carboxylic acid, 17alpha-hydroxy-, methyl ester (8CI)
Yohimbic acid methyl ester
Yohimbin
Yohimbine
Yohimbine (DCF)
Yohimbol-16alpha-carboxylic acid, methyl ester (6CI)
Yohimex
Yoman
Yovital
methyl (16alpha,17alpha)-17-hydroxyyohimban-16-carboxylate
methyl 17alpha-hydroxyyohimban-16alpha-carboxylate
nchembio.188-comp13
nchembio705-2
trans-Quinolizidine yohimbine
4
Buprenorphineapproved, illicit, investigational, vet_approvedPhase 139752485-79-740400, 644073
Synonyms:
(-)-Buprenorphine
(-)-buprenorphine
(5alpha,6beta,14beta,18R)-17-(cyclopropylmethyl)-18-[(1S)-1-hydroxy-1,2,2-trimethylpropyl]-6-(methyloxy)-18,19-dihydro-4,5-epoxy-6,14-ethenomorphinan-3-ol
(5alpha,6beta,14beta,18R)-17-(cyclopropylmethyl)-18-[(2S)-2-hydroxy-3,3-dimethylbutan-2-yl]-6-methoxy-18,19-dihydro-4,5-epoxy-6,14-ethenomorphinan-3-ol
(−)-buprenorphine
17-Cyclopropylmethyl-4,5alpha-epoxy-7alpha-((S)-1-hydroxy-1,2,2-trimethylpropyl)-6-methoxy-6,14-endo-ethanomorphinan-3-ol
17-Cyclopropylmethyl-4,5alpha-epoxy-7alpha-((S)-1-hydroxy-1,2,2-trimethylpropyl-6-methoxy-6,14-endo-ethanomorphinan-3-ol
17-cyclopropylmethyl-4,5alpha-epoxy-7alpha-((S)-1-hydroxy-1,2,2-trimethylpropyl)-6-methoxy-6,14-endo-ethanomorphinan-3-ol
2-(N-Cyclopropylmethyl-4,5alpha-epoxy-3-hydroxy-6-methoxy-6,14-endo-ethanomorphinan-6alpha-yl)-3,3-dimethyl-2-butanol
2-(N-Cyclopropylmethyl-4,5alpha-epoxy-3-hydroxy-6-methoxy-6,14-endo-ethanomorphinan-7alpha-yl)-3,3-dimethyl-2-butanol
2-(N-cyclopropylmethyl-4,5alpha-epoxy-3-hydroxy-6-methoxy-6,14-endo-ethanomorphinan-6alpha-yl)-3,3-dimethyl-2-butanol
2-[3-Cyclopropylmethyl-11-hydroxy-15-methoxy-(14R)-13-oxa-3-azahexacyclo[13.2.2.12,8.01,6.06,14.07,12]icosa-7,9,11-trien-16-yl]-3,3-dimethyl-2-butanol
21-(Cyclopropyl-7alpha-((S)-1-hydroxy-1,2,2-trimethylpropyl-6,14-endo-ethano-6,7,8,14-tetrahydrooripavine
21-Cyclopropyl-7alpha-[(S)-1-hydroxy-1,2,2-trimethylpropyl]-6,14-endo-ethano-6,7,8,14-tetrahydrooripavine
21-cyclopropyl-7alpha-(2-hydroxy-3,3-dimethyl-2-butyl)-6,14-endo-ethano-6,7,8,14-tetrahydrooripavine
21-cyclopropyl-7alpha-[(S)-1-hydroxy-1,2,2-trimethylpropyl]-6,14-endo-ethano-6,7,8,14-tetrahydrooripavine
52485-79-7
53152-21-9 (hydrochloride)
6,14-Ethenomorphinan-7-methanol, 17-(cyclopropylmethyl)-alpha-(1,1-dimethylethyl)-4,5-epoxy-18,19-dihydro-3-hydroxy-6-methoxy-alpha-methyl-,
6,14-Ethenomorphinan-7-methanol, 17-(cyclopropylmethyl)-alpha-(1,1-dimethylethyl)-4,5-epoxy-18,19-dihydro-3-hydroxy-6-methoxy-alpha-methyl-, (alphaS,5alpha,7alpha)- (9CI)
6029-M
AC1L23NL
AC1L9B1M
AC1LD8IH
Buprel
Buprenex
Buprenophine
Buprenorfina
Buprenorfina [INN-Spanish]
 
Buprenorphine (JAN/INN)
Buprenorphine Hcl
Buprenorphine [INN:BAN]
Buprenorphinum
Buprenorphinum [INN-Latin]
C08007
C29H41NO4
CHEBI:3216
CHEMBL1201894
CHEMBL47085
CID40400
CID441363
CID5311033
CID6321408
CID644073
D07132
DB00921
DEA No. 9064
EINECS 257-950-6
LS-67682
MolPort-004-285-844
PDSP2_000111
Probuphine
RX 6029M
RX-6029-M
Subutex
Temgesic
Temgesic (TN)
UNII-40D3SCR4GZ
[5alpha,7alpha(S)]-17-(Cyclopropylmethyl)-alpha-(1,1-dimethylethyl)-4,5-epoxy-18,19-dihydro-3-hydroxy-6-methoxy-alpha-methyl-6,14-ethenomorphinan-7-methanol
buprenorphine
5
Hydrocortisoneapproved, vet_approvedPhase 164050-23-75754, 657311
Synonyms:
(11alpha,14beta)-11,17,21-trihydroxypregn-4-ene-3,20-dione
(11beta)-11,17,21-Trihydroxypregn-4-ene-3,20-dione
11-Hydrocortisone
11-beta-Hydrocortisone
11-beta-Hydroxycortisone
11a-Hydroxycorticosterone
11alpha-Hydroxycorticosterone
11b,17,21-Trihydroxyprogesterone
11b-Hydrocortisone
11b-Hydroxycortisone
11beta,17,21-Trihydroxyprogesterone
11beta,17alpha,21-Trihydroxy-4-pregnene-3,20-dione
11beta-Hydrocortisone
11beta-Hydroxycortisone
11beta-hydrocortisone
11β-hydrocortisone
17-Hydroxycorticosterone
17a-Hydroxycorticosterone
17alpha-Hydroxycorticosterone
2v95
4-Pregnen-11beta,17alpha,21-triol-3,20-dione
4-Pregnene-11alpha,21-triol 3,20-dione
4-Pregnene-11b,17a,21-triol-3,20-dione
50-23-7
8056-08-4
80562-38-5
8063-42-1
AC-12902
AC1L1L2B
ACETASOL HC
ACETIC ACID W/ HYDROCORTISONE
AI3-25006
AKOS001582651
Acticort
Acticort (TN)
Aeroseb HC
Aeroseb-HC
Ala-Cort
Ala-Scalp
Alacort
Algicirtis
Alphaderm
Amberin
Anflam
Anti-inflammatory hormone
Anucort
Anucort-HC
Anusol HC
Anusol HC (TN)
Aquacort
Aquanil HC
B48448A1-24BA-47CA-8D9E-43E5BC949386
BPBio1_000544
BRD-K93568044-001-03-1
BSPBio_000494
Balneol-hc
Barseb HC
Basan-Corti
Beta-hc
Bio-0648
C00735
C21H30O5
CCRIS 5854
CHEBI:17650
CHEMBL389621
CID5754
COR-OTICIN
CPD000653523
CaldeCORT Spray
Cetacort
Chronocort
Clear aid
Cleiton
Cobadex
Colocort
Colocort (TN)
Compound F
Compound F (kendall)
Cor-Tar-Quin
Corhydron
Cort-Dome
Cort-Quin
Cortanal
Cortef
Cortef (TN)
Cortenema
Cortesal
Corticreme
Cortifair
Cortifan
Cortifoam
Cortiment
Cortisol
Cortisol alcohol
Cortisol, Hydrocortisone
Cortisolonum
Cortisporin
Cortisporin Otico
Cortispray
Cortizol
Cortolotion
Cortonema
Cortoxide
Cortril
Cremesone
Cremicort-H
Cutisol
Cyclodextrin-encapsulated hydrocortisone
D00088
DB00741
DB07886
Delacort
Derm-Aid
Dermacort
Dermaspray
Dermil
Dermocortal
Dermolate
Dihydrocostisone
Dioderm
Dome-cort
Domolene-HC
Drotic
DuoCort
EINECS 200-020-1
EU-0100594
Ef corlin
Efcorbin
Efcortelan
Efcortelin
Eldecort
Eldercort
Epicort
Epicortisol
Epiderm H
Esiderm H
Evacort
Ficortril
Fiocortril
Flexicort
Foille Insetti
Genacort
Genacort (lotion)
Glycort
Gyno-Cortisone
H 4001
H-Cort
H0135_SIGMA
H0396_SIGMA
H0888_SIGMA
H3160_SIGMA
H4001_SIGMA
H6909_SIGMA
HC
HC #1
 
HC #4
HC (HYDROCORTISONE)
HMS1569I16
HMS2090M04
HSDB 3339
HYDROCORTISONE AND ACETIC ACID
HYDROCORTISONE IN ABSORBASE
Heb Cort
Heb-Cort
Hi-cor
Hidalone
Hidro-Colisona
Hidrocortisona
Hidrocortisona [INN-Spanish]
Hycort
Hycortol
Hycortole
Hydracort
Hydrasson
Hydro-Adreson
Hydro-Colisona
Hydro-RX
Hydro-colisona
Hydrocort
Hydrocortal
Hydrocorticosterone
Hydrocortisone
Hydrocortisone (JP15/USP/INN)
Hydrocortisone Acetate
Hydrocortisone Base
Hydrocortisone Butyrate
Hydrocortisone Sodium Phosphate
Hydrocortisone Valerate
Hydrocortisone [INN:BAN:JAN]
Hydrocortisone alcohol
Hydrocortisone base
Hydrocortisone free alcohol
Hydrocortisone solution
Hydrocortisone-Water Soluble
Hydrocortisonum
Hydrocortisonum [INN-Latin]
Hydrocortistab
Hydrocortisyl
Hydrocortone
Hydroskin
Hydroxycortisone
Hysone
Hytisone
Hytone
Hytone (TN)
Hytone lotion
Idrocortisone
Idrocortisone [DCIT]
Incortin-H
Incortin-hydrogen
Kendall'S compound F
Kendall's compound F
Komed HC
Kyypakkaus
LMST02030001
LS-7439
Lacticare HC
Lacticare-HC
Lactisona
Lopac0_000594
Lubricort
MLS000069609
MLS001148103
MLS002207135
MLS002222189
Maintasone
Medicort
Meusicort
Mildison
Milliderm
MolPort-001-794-637
NCGC00022848-06
NCGC00022848-07
NCGC00022848-09
NCGC00022848-12
NCI60_000118
NSC 10483
NSC-10483
NSC10483
Neo-Cort-Dome
Neo-Cortef
Neosporin-H Ear
Nogenic HC
Nutracort
Nystaform-HC
ORLEX HC
Optef
Otalgine
Otic-Neo-Cort-Dome
Otobiotic
Otocort
Otosone-F
Pediotic Suspension
Penecort
Permicort
Polcort H
Preparation H Hydrocortisone Cream
Prepcort
Prestwick0_000447
Prestwick1_000447
Prestwick2_000447
Prestwick3_000447
Prestwick_265
Prevex HC
Proctocort
Proctofoam
Proctozone HC
Protocort
Racet
Rectasol-HC
Rectoid
Reichstein'S substance M
Reichstein's substance M
Remederm HC
S1696_Selleck
SAM002264617
SMP1_000156
SMR000059022
SMR000653523
SPBio_002433
Sanatison
Scalp-Cort
Scalpicin Capilar
Schericur
Scheroson F
Sigmacort
Signef
Stie-cort
Stiefcorcil
Synacort
Systral Hydrocort
Tarcortin
Texacort
Texacort lotion 25
Timocort
Topicort
Transderma H
Traumaide
UNII-WI4X0X7BPJ
UPCMLD-DP133
UPCMLD-DP133:001
Uniderm
Vioform-Hydrocortisone
VoSol HC
Vytone
Zenoxone
[3H]cortisol
component of Lubricort
component of Neo-Cort-Dome
component of Otalgine
hydrocortisone
6
butyric acidexperimentalPhase 1363107-92-6264
Synonyms:
1-Butanoate
1-Butanoic acid
1-Butyrate
1-Butyric acid
1-Propanecarboxylate
1-Propanecarboxylic acid
Butanate
Butanic acid
Butanoate
Butanoic acid
Buttersaeure
Butyrate
 
Butyric acid
Ethylacetate
Ethylacetic acid
Honey robber
Kyselina maselna
N-Butanoate
N-Butanoic acid
N-Butyrate
N-Butyric acid
Propanecarboxylate
Propanecarboxylic acid
Propylformate
Propylformic acid
7Adrenergic AntagonistsPhase 11535
8MydriaticsPhase 1763
9AnalgesicsPhase 111287
10Narcotic AntagonistsPhase 1906
11NarcoticsPhase 13486
12Peripheral Nervous System AgentsPhase 122776
13Neurotransmitter AgentsPhase 117734
14Hydrocortisone-17-butyratePhase 1318
15Adrenergic alpha-AntagonistsPhase 1727
16Hydrocortisone acetatePhase 1640
17Buprenorphine, Naloxone Drug CombinationPhase 1129
18Analgesics, OpioidPhase 13091
19Autonomic AgentsPhase 19774
20Anti-Inflammatory AgentsPhase 110355
21Central Nervous System DepressantsPhase 112806
22Hydrocortisone 17-butyrate 21-propionatePhase 1640
23Adrenergic AgentsPhase 15140
24Cortisol succinatePhase 1640
25YohimbeNutraceuticalPhase 127

Interventional clinical trials:

idNameStatusNCT IDPhase
1Effects of Buprenorphine/Naloxone Dose on Experimental Stress Reactivity and Opioid AbstinenceRecruitingNCT03015246Phase 1

Search NIH Clinical Center for Branchiootic Syndrome

Genetic Tests for Branchiootic Syndrome

About this section

Genetic tests related to Branchiootic Syndrome:

id Genetic test Affiliating Genes
1 Branchiootic Syndrome27

Anatomical Context for Branchiootic Syndrome

About this section

MalaCards organs/tissues related to Branchiootic Syndrome:

36
Skin

Publications for Branchiootic Syndrome

About this section

Articles related to Branchiootic Syndrome:

idTitleAuthorsYear
1
Novel partial duplication of EYA1 causes branchiootic syndrome in a large Brazilian family. (25926005)
2015
2
A true branchial fistula in the context of branchiootic syndrome: challenges of diagnosis and management. (24933236)
2014
3
Branchiootic syndrome--a clinical case report and review of the literature. (22901925)
2012
4
A novel nonsense mutation in the EYA1 gene associated with branchio-oto-renal/branchiootic syndrome in an Afrikaner kindred. (16813606)
2006

Variations for Branchiootic Syndrome

About this section

Clinvar genetic disease variations for Branchiootic Syndrome:

5
id Gene Variation Type Significance SNP ID Assembly Location
1EYA1NM_000503.5(EYA1): c.1081C> T (p.Arg361Ter)SNVPathogenicrs121909202GRCh37Chr 8, 72156897: 72156897

Expression for genes affiliated with Branchiootic Syndrome

About this section
Search GEO for disease gene expression data for Branchiootic Syndrome.

Pathways for genes affiliated with Branchiootic Syndrome

About this section

GO Terms for genes affiliated with Branchiootic Syndrome

About this section

Cellular components related to Branchiootic Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1LUBAC complexGO:00717979.6RBCK1, SHARPIN

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

(show all 20)
idNameGO IDScoreTop Affiliating Genes
1anatomical structure developmentGO:004885610.7EYA1, SIX1
2aorta morphogenesisGO:003590910.7EYA1, SIX1
3branching involved in ureteric bud morphogenesisGO:000165810.7EYA1, SIX1
4cochlea morphogenesisGO:009010310.6EYA1, SIX1
5embryonic skeletal system morphogenesisGO:004870410.6EYA1, SIX1
6inner ear morphogenesisGO:004247210.6EYA1, SIX1
7middle ear morphogenesisGO:004247410.6EYA1, SIX1
8neuron fate specificationGO:004866510.6EYA1, SIX1
9otic vesicle developmentGO:007159910.6EYA1, SIX1
10outflow tract morphogenesisGO:000315110.6EYA1, SIX1
11pattern specification processGO:000738910.6EYA1, SIX1
12pharyngeal system developmentGO:006003710.6EYA1, SIX1
13positive regulation of secondary heart field cardioblast proliferationGO:007251310.6EYA1, SIX1
14regulation of neuron differentiationGO:004566410.5EYA1, SIX1
15I-kappaB kinase/NF-kappaB signalingGO:000724910.4RBCK1, SHARPIN
16regulation of protein localizationGO:003288010.3SIX1, TRIM17
17protein linear polyubiquitinationGO:009703910.2RBCK1, SHARPIN
18regulation of tumor necrosis factor-mediated signaling pathwayGO:001080310.1RBCK1, SHARPIN
19ureteric bud developmentGO:00016579.9EYA1, SIX1
20positive regulation of transcription from RNA polymerase II promoterGO:00459449.3EYA1, RBCK1, SIX1, SIX5, SIX6

Sources for Branchiootic Syndrome

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet