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MCID: BRN129
MIFTS: 23

Branchial Cleft Anomalies

Categories: Fetal diseases, Oral diseases, Rare diseases
Genes Tissues Related diseases Publications Symptoms & Phenotypes
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Aliases & Classifications for Branchial Cleft Anomalies

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MalaCards integrated aliases for Branchial Cleft Anomalies:

Name: Branchial Cleft Anomalies 57
Second Branchial Cleft Cyst 59 72
Second Branchial Cleft Anomaly 59
Second Branchial Cleft Fistula 59

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
branchial cleft anomalies:
Inheritance autosomal dominant inheritance


Classifications:

MalaCards categories:
Global: Fetal diseases Rare diseases
Anatomical: Oral diseases
See all MalaCards categories (disease lists)
ICD10: 34
Orphanet: 59  
Rare otorhinolaryngological diseases
Developmental anomalies during embryogenesis


External Ids:

OMIM 57 113600
ICD10 via Orphanet 34 Q18.0
Orphanet 59 ORPHA141022
MedGen 42 C0079037
UMLS 72 C3874315
Sources

Summaries for Branchial Cleft Anomalies

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MalaCards based summary : Branchial Cleft Anomalies, also known as second branchial cleft cyst, is related to first branchial cleft anomaly and fourth branchial cleft anomaly. An important gene associated with Branchial Cleft Anomalies is WAC (WW Domain Containing Adaptor With Coiled-Coil). Affiliated tissues include eye, salivary gland and thyroid, and related phenotype is abnormality of the neck.

More information from OMIM: 113600
Sources

Related Diseases for Branchial Cleft Anomalies

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Diseases related to Branchial Cleft Anomalies via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 40)
# Related Disease Score Top Affiliating Genes
1 first branchial cleft anomaly 12.6
2 fourth branchial cleft anomaly 12.6
3 third branchial cleft anomaly 12.6
4 branchiootic syndrome 1 11.4
5 desanto-shinawi syndrome 11.4
6 cholesteatoma of middle ear 10.4
7 neurilemmoma 10.3
8 facial paralysis 10.2
9 heart disease 10.1
10 keloid formation 10.1
11 sarcoma, synovial 10.1
12 thrombosis 10.1
13 sarcoma 10.1
14 squamous cell carcinoma 10.1
15 spindle cell sarcoma 10.1
16 keloid disorder 10.1
17 cleft palate, isolated 10.1
18 otitis media 10.1
19 lambert syndrome 10.1
20 aural atresia, congenital 10.1
21 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.1
22 autosomal recessive disease 10.1
23 townes-brocks syndrome 10.1
24 horner's syndrome 10.1
25 biliary atresia 10.1
26 suppurative thyroiditis 10.1
27 branchiootorenal syndrome 10.1
28 lymphangioma 10.1
29 lymphadenitis 10.1
30 dermoid cyst 10.1
31 cystic teratoma 10.1
32 cystic lymphangioma 10.1
33 papillary carcinoma 10.1
34 cervical adenitis 10.1
35 mature teratoma 10.1
36 thyroiditis 10.1
37 fasciitis 10.1
38 preauricular sinus 10.1
39 rare lymphatic malformation 10.1
40 microtia 10.1

Graphical network of the top 20 diseases related to Branchial Cleft Anomalies:



Diseases related to Branchial Cleft Anomalies
Sources

Symptoms & Phenotypes for Branchial Cleft Anomalies

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Human phenotypes related to Branchial Cleft Anomalies:

32
# Description HPO Frequency HPO Source Accession
1 abnormality of the neck 32 HP:0000464

Symptoms via clinical synopsis from OMIM:

57
Neck:
cysts, sinuses or fistulas

Clinical features from OMIM:

113600
Sources

Drugs & Therapeutics for Branchial Cleft Anomalies

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Search Clinical Trials , NIH Clinical Center for Branchial Cleft Anomalies

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Genetic Tests for Branchial Cleft Anomalies

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Anatomical Context for Branchial Cleft Anomalies

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MalaCards organs/tissues related to Branchial Cleft Anomalies:

41
Eye, Salivary Gland, Thyroid, Skin, Bone
Sources

Publications for Branchial Cleft Anomalies

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Articles related to Branchial Cleft Anomalies:

(show top 50) (show all 181)
# Title Authors PMID Year
1
Seven cases of branchial cyst and sinuses in four generations. 8
478554 1979
2
Hereditary branchial defects in a Hampshire family. 8
13773423 1961
3
The utilization of selective neck dissection in the treatment of recurrent branchial cleft anomalies. 38
31415388 2019
4
Differences in management outcome for first branchial cleft anomalies: A comparison of infants and toddlers to older children. 38
31029951 2019
5
The Microbiology Characteristics of Infected Branchial Cleft Anomalies. 38
31428729 2019
6
First branchial cleft fistula (Work Type 2) with an internal opening to the Eustachian tube: Case report and review of literature. 38
31049118 2019
7
Sternoclavicular sinus: Case series and literature review of a rare head and neck lesion. 38
31326735 2019
8
Radiologic Features of Papillary Carcinoma in the Second Branchial Cleft Cyst. 38
30961385 2019
9
Unusual Presentation of a Large Multilocular Second Branchial Cleft Cyst. 38
31033768 2019
10
Bilateral Ear Canal Cholesteatoma with Underlying Type I First Branchial Cleft Anomalies. 38
30607978 2019
11
Right-Sided Complete Third Branchial Cleft Fistula. 38
30653037 2019
12
Unusual Conditions Impairing Saliva Secretion: Developmental Anomalies of Salivary Glands. 38
31333498 2019
13
Congenital Neck Masses. 38
30396417 2018
14
Second branchial cleft anomalies in children: a literature review. 38
30251021 2018
15
Second branchial cleft cyst: about 34 cases. 38
31131870 2018
16
The "dimple swallow" sign for branchial cleft anomalies. 38
30397158 2018
17
Clinical Study of Second Branchial Cleft Anomalies. 38
29608472 2018
18
Spontaneous closure of branchial sinus of the pyriform fossa. 38
29764823 2018
19
A Case of First Branchial Cleft Fistula Presenting with an External Opening on the Root of the Helical Crus. 38
29560006 2018
20
An Effective Surgical Approach for the Management of Recurrent First Branchial Cleft Fistula with Cysts: A Case Report. 38
29092806 2017
21
Efficacy and Safety of Ethanol Ablation for Branchial Cleft Cysts. 38
28970243 2017
22
The treatment for the first branchial cleft anomalies in children. 38
28634783 2017
23
First branchial cleft anomalies in children: Experience with 30 cases. 38
28672934 2017
24
A Rare Case Report of a Child Coexistence Thyroglossal Cyst and Second Branchial Cleft Fistulae. 38
28607902 2017
25
Complications in head and neck surgery. 38
27989359 2016
26
A fatal case of severe neck abscess due to a third branchial cleft fistula: morphologic and immunohistochemical analyses. 38
27628180 2016
27
Intraoperative use of fibrin glue dyed with methylene blue in surgery for branchial cleft anomalies. 38
26927898 2016
28
Avoiding surgical pitfalls during resection of a "hybrid" first and second branchial cleft cyst - A case report. 38
27368450 2016
29
Branchial cleft and pouch anomalies in childhood: a report of 50 surgical cases. 38
26403983 2016
30
Branchial cleft anomalies: a pictorial review of embryological development and spectrum of imaging findings. 38
26661849 2016
31
Surgical Approaches to First Branchial Cleft Anomaly Excision: A Case Series. 38
27034873 2016
32
WAC loss-of-function mutations cause a recognisable syndrome characterised by dysmorphic features, developmental delay and hypotonia and recapitulate 10p11.23 microdeletion syndrome. 38
26264232 2015
33
Second Branchial Cleft Cyst. 38
25421295 2015
34
[The application of three-dimensional CT in diagnosis of the branchial cleft cyst and fistula]. 38
26685414 2015
35
Thyroidal abscesses in third and fourth branchial anomalies: not only a paediatric diagnosis. 38
24674380 2015
36
[Interpretation of ultrasound findings in otorhinolaryngology. Salivary glands, paraganglioma, angioma, esophagus, hypopharynx, extra cranial vessels and temporomandibular joint]. 38
26062448 2015
37
Management of First Branchial Cleft Anomalies via a Cartilage-Splitting Technique. 38
25805642 2015
38
The relationship between the fistula tract and the facial nerve in type II first branchial cleft anomalies. 38
25239084 2015
39
First branchial cleft anomalies: otologic manifestations and treatment outcomes. 38
25524898 2015
40
Branchial cleft anomalies and thymic cysts. 38
25442127 2015
41
Complete second branchial cleft anomaly presenting as a fistula and a tonsillar cyst: an interesting congenital anomaly. 38
25397378 2014
42
Parathyroid adenoma in third pharyngeal pouch cyst as a rare case of primary hyperparathyroidism. 38
25245714 2014
43
First branchial cleft fistula associated with external auditory canal stenosis and middle ear cholesteatoma. 38
25320705 2014
44
Endoscope-assisted second branchial cleft cyst resection via an incision along skin line on lateral neck. 38
24292216 2014
45
Second branchial cleft fistulae: patient characteristics and surgical outcome. 38
25012195 2014
46
Second branchial cleft cyst. 38
24472359 2014
47
Fourth branchial anomaly presenting with a lateral neck mass in a neonate. 38
26023505 2014
48
Membranous band between the tympanic membrane and the external auditory canal. 38
24525023 2014
49
Duplicated facial nerve trunk with a first branchial cleft cyst. 38
23946158 2014
50
First branchial cleft anomaly: clinical insight into its relevance in otolaryngology with pediatric considerations. 38
24533397 2014
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Variations for Branchial Cleft Anomalies

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Expression for Branchial Cleft Anomalies

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Search GEO for disease gene expression data for Branchial Cleft Anomalies.
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Pathways for Branchial Cleft Anomalies

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GO Terms for Branchial Cleft Anomalies

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Sources for Branchial Cleft Anomalies

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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