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MCID: BRN129
MIFTS: 24

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 56
Second Branchial Cleft Cyst 58 71
Second Branchial Cleft Anomaly 58
Second Branchial Cleft Fistula 58

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant


HPO:

31
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: 33
Orphanet: 58  
Rare otorhinolaryngological diseases
Developmental anomalies during embryogenesis


External Ids:

OMIM 56 113600
ICD10 via Orphanet 33 Q18.0
Orphanet 58 ORPHA141022
MedGen 41 C0079037
SNOMED-CT via HPO 68 263681008 298390003 40052002
UMLS 71 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 thyroid, eye and salivary gland, 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 42)
# 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 keloid formation 10.1
10 sarcoma, synovial 10.1
11 tonsil squamous cell carcinoma 10.1
12 thrombosis 10.1
13 sarcoma 10.1
14 squamous cell carcinoma 10.1
15 spindle cell sarcoma 10.1
16 oropharynx cancer 10.1
17 keloid disorder 10.1
18 cleft palate, isolated 10.1
19 otitis media 10.1
20 lambert syndrome 10.1
21 aural atresia, congenital 10.1
22 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.1
23 autosomal recessive disease 10.1
24 townes-brocks syndrome 10.1
25 benign teratoma 10.1
26 heart disease 10.1
27 horner's syndrome 10.1
28 biliary atresia 10.1
29 suppurative thyroiditis 10.1
30 branchiootorenal syndrome 10.1
31 lymphangioma 10.1
32 lymphadenitis 10.1
33 cystic teratoma 10.1
34 cystic lymphangioma 10.1
35 papillary carcinoma 10.1
36 cervical adenitis 10.1
37 mature teratoma 10.1
38 thyroiditis 10.1
39 fasciitis 10.1
40 preauricular sinus 10.1
41 rare lymphatic malformation 10.1
42 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:

31
# Description HPO Frequency HPO Source Accession
1 abnormality of the neck 31 HP:0000464

Symptoms via clinical synopsis from OMIM:

56
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:

40
Thyroid, Eye, Salivary Gland, Bone, Lymph Node, Skin, Heart
Sources

Publications for Branchial Cleft Anomalies

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Articles related to Branchial Cleft Anomalies:

(show top 50) (show all 184)
# Title Authors PMID Year
1
Seven cases of branchial cyst and sinuses in four generations. 56
478554 1979
2
Hereditary branchial defects in a Hampshire family. 56
13773423 1961
3
Solitary cystic metastatic lymph node of occult human papillomavirus-related oropharyngeal cancer mimicking second branchial cleft cyst: A case report. 61
31689859 2019
4
Importance and Impact of Appropriate Radiology in the Management of Branchial Cleft Anomalies. 61
31742101 2019
5
Sternoclavicular sinus: Case series and literature review of a rare head and neck lesion. 61
31326735 2019
6
Unusual Presentation of a Large Multilocular Second Branchial Cleft Cyst. 61
31033768 2019
7
The utilization of selective neck dissection in the treatment of recurrent branchial cleft anomalies. 61
31415388 2019
8
Differences in management outcome for first branchial cleft anomalies: A comparison of infants and toddlers to older children. 61
31029951 2019
9
The Microbiology Characteristics of Infected Branchial Cleft Anomalies. 61
31428729 2019
10
First branchial cleft fistula (Work Type 2) with an internal opening to the Eustachian tube: Case report and review of literature. 61
31049118 2019
11
Radiologic Features of Papillary Carcinoma in the Second Branchial Cleft Cyst. 61
30961385 2019
12
Bilateral Ear Canal Cholesteatoma with Underlying Type I First Branchial Cleft Anomalies. 61
30607978 2019
13
Right-Sided Complete Third Branchial Cleft Fistula. 61
30653037 2019
14
Unusual Conditions Impairing Saliva Secretion: Developmental Anomalies of Salivary Glands. 61
31333498 2019
15
Congenital Neck Masses. 61
30396417 2018
16
Second branchial cleft anomalies in children: a literature review. 61
30251021 2018
17
Second branchial cleft cyst: about 34 cases. 61
31131870 2018
18
The "dimple swallow" sign for branchial cleft anomalies. 61
30397158 2018
19
Clinical Study of Second Branchial Cleft Anomalies. 61
29608472 2018
20
Spontaneous closure of branchial sinus of the pyriform fossa. 61
29764823 2018
21
A Case of First Branchial Cleft Fistula Presenting with an External Opening on the Root of the Helical Crus. 61
29560006 2018
22
An Effective Surgical Approach for the Management of Recurrent First Branchial Cleft Fistula with Cysts: A Case Report. 61
29092806 2017
23
Efficacy and Safety of Ethanol Ablation for Branchial Cleft Cysts. 61
28970243 2017
24
The treatment for the first branchial cleft anomalies in children. 61
28634783 2017
25
First branchial cleft anomalies in children: Experience with 30 cases. 61
28672934 2017
26
A Rare Case Report of a Child Coexistence Thyroglossal Cyst and Second Branchial Cleft Fistulae. 61
28607902 2017
27
Clinicopathological characteristics of cervical chondrocutaneous branchial remnant: a single-institutional experience. 61
31966875 2017
28
Complications in head and neck surgery. 61
27989359 2016
29
A fatal case of severe neck abscess due to a third branchial cleft fistula: morphologic and immunohistochemical analyses. 61
27628180 2016
30
Intraoperative use of fibrin glue dyed with methylene blue in surgery for branchial cleft anomalies. 61
26927898 2016
31
Avoiding surgical pitfalls during resection of a "hybrid" first and second branchial cleft cyst - A case report. 61
27368450 2016
32
Branchial cleft and pouch anomalies in childhood: a report of 50 surgical cases. 61
26403983 2016
33
Branchial cleft anomalies: a pictorial review of embryological development and spectrum of imaging findings. 61
26661849 2016
34
Surgical Approaches to First Branchial Cleft Anomaly Excision: A Case Series. 61
27034873 2016
35
WAC loss-of-function mutations cause a recognisable syndrome characterised by dysmorphic features, developmental delay and hypotonia and recapitulate 10p11.23 microdeletion syndrome. 61
26264232 2015
36
Second Branchial Cleft Cyst. 61
25421295 2015
37
[The application of three-dimensional CT in diagnosis of the branchial cleft cyst and fistula]. 61
26685414 2015
38
Thyroidal abscesses in third and fourth branchial anomalies: not only a paediatric diagnosis. 61
24674380 2015
39
[Interpretation of ultrasound findings in otorhinolaryngology. Salivary glands, paraganglioma, angioma, esophagus, hypopharynx, extra cranial vessels and temporomandibular joint]. 61
26062448 2015
40
Management of First Branchial Cleft Anomalies via a Cartilage-Splitting Technique. 61
25805642 2015
41
The relationship between the fistula tract and the facial nerve in type II first branchial cleft anomalies. 61
25239084 2015
42
First branchial cleft anomalies: otologic manifestations and treatment outcomes. 61
25524898 2015
43
Branchial cleft anomalies and thymic cysts. 61
25442127 2015
44
Complete second branchial cleft anomaly presenting as a fistula and a tonsillar cyst: an interesting congenital anomaly. 61
25397378 2014
45
Parathyroid adenoma in third pharyngeal pouch cyst as a rare case of primary hyperparathyroidism. 61
25245714 2014
46
First branchial cleft fistula associated with external auditory canal stenosis and middle ear cholesteatoma. 61
25320705 2014
47
Endoscope-assisted second branchial cleft cyst resection via an incision along skin line on lateral neck. 61
24292216 2014
48
Second branchial cleft fistulae: patient characteristics and surgical outcome. 61
25012195 2014
49
Second branchial cleft cyst. 61
24472359 2014
50
Fourth branchial anomaly presenting with a lateral neck mass in a neonate. 61
26023505 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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 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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