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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 58 71
Second Branchial Cleft Anomaly 58
Second Branchial Cleft Fistula 58

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
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® 57 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 branchiootic syndrome 1 and desanto-shinawi syndrome. An important gene associated with Branchial Cleft Anomalies is WAC (WW Domain Containing Adaptor With Coiled-Coil). Affiliated tissues include eye, thyroid and bone, 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 26)
# Related Disease Score Top Affiliating Genes
1 branchiootic syndrome 1 11.1
2 desanto-shinawi syndrome 11.1
3 first branchial cleft anomaly 10.3
4 neurilemmoma 10.3
5 facial paralysis 10.3
6 cholesteatoma of middle ear 10.2
7 townes-brocks syndrome 10.1
8 sarcoma, synovial 10.1
9 tonsil squamous cell carcinoma 10.1
10 thrombosis 10.1
11 sarcoma 10.1
12 spindle cell sarcoma 10.1
13 oropharynx cancer 10.1
14 fourth branchial cleft anomaly 10.1
15 cleft palate, isolated 10.0
16 otitis media 10.0
17 horner's syndrome 10.0
18 branchiootorenal syndrome 10.0
19 lymphangioma 10.0
20 lymphadenitis 10.0
21 cystic lymphangioma 10.0
22 papillary carcinoma 10.0
23 cervical adenitis 10.0
24 48,xyyy 10.0
25 preauricular sinus 10.0
26 rare lymphatic malformation 10.0

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®:

57 (Updated 05-Mar-2021)
Neck:
cysts, sinuses or fistulas

Clinical features from OMIM®:

113600 (Updated 05-Mar-2021)

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

Publications for Branchial Cleft Anomalies

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Articles related to Branchial Cleft Anomalies:

(show top 50) (show all 202)
# Title Authors PMID Year
1
Seven cases of branchial cyst and sinuses in four generations. 57
478554 1979
2
Hereditary branchial defects in a Hampshire family. 57
13773423 1961
3
Unusual location of a second branchial cleft cyst presenting in the suprasternal notch. 61
33533131 2021
4
Atypical first branchial cleft fistula: A case report. 61
33352445 2021
5
Collaural Sinus: A Case Report. 61
33397881 2021
6
Endoscopically assisted transoral resection of a Bailey type IV second branchial cleft cyst: A case report. 61
33546076 2021
7
Branchial cleft anomalies: hybrid "Branchial Inclusion" theory. 61
33427915 2021
8
Feasibility of same day surgery for pediatric second branchial cleft anomalies. 61
33017666 2020
9
Congenital Neck Masses. 61
33170821 2020
10
An Unusual Case of Bilateral First Branchial Cleft Anomaly: A Case Report with Review of Literature. 61
32728550 2020
11
Computed Tomography Findings of Complete Branchial Cleft Fistula. 61
32921177 2020
12
Clinical Analysis of Type II First Branchial Cleft Anomalies in Children. 61
32846011 2020
13
Branchial Cysts in Quito, Ecuador. 61
32754247 2020
14
Clarifying Misleading Lumps and Sinuses in the Newborn. 61
32482690 2020
15
Unusual presentation of a first Branchial cleft cyst associated with an abnormal bony canal -a case report. 61
32471510 2020
16
Fourth branchial cleft sinus with foreign material within thyroid gland. 61
32078863 2020
17
Robotic Surgery in Head and Neck in Pediatric Population: Our Experience. 61
32158664 2020
18
Resection of Second, Third, and Fourth Branchial Cleft Anomalies with Recurrent or Repeated Neck Infection Using the Selective Neck Dissection Technique. 61
32092758 2020
19
Unusual Isolated Parapharyngeal Second Branchial Cleft Cyst: A Case Report and Literature Review. 61
33376614 2020
20
Solitary cystic metastatic lymph node of occult human papillomavirus-related oropharyngeal cancer mimicking second branchial cleft cyst: A case report. 61
31689859 2019
21
Importance and Impact of Appropriate Radiology in the Management of Branchial Cleft Anomalies. 61
31742101 2019
22
Sternoclavicular sinus: Case series and literature review of a rare head and neck lesion. 61
31326735 2019
23
Unusual Presentation of a Large Multilocular Second Branchial Cleft Cyst. 61
31033768 2019
24
The utilization of selective neck dissection in the treatment of recurrent branchial cleft anomalies. 61
31415388 2019
25
The Microbiology Characteristics of Infected Branchial Cleft Anomalies. 61
31428729 2019
26
Differences in management outcome for first branchial cleft anomalies: A comparison of infants and toddlers to older children. 61
31029951 2019
27
First branchial cleft fistula (Work Type 2) with an internal opening to the Eustachian tube: Case report and review of literature. 61
31049118 2019
28
Radiologic Features of Papillary Carcinoma in the Second Branchial Cleft Cyst. 61
30961385 2019
29
Bilateral Ear Canal Cholesteatoma with Underlying Type I First Branchial Cleft Anomalies. 61
30607978 2019
30
Right-Sided Complete Third Branchial Cleft Fistula. 61
30653037 2019
31
Unusual Conditions Impairing Saliva Secretion: Developmental Anomalies of Salivary Glands. 61
31333498 2019
32
Second branchial cleft anomalies in children: a literature review. 61
30251021 2018
33
Second branchial cleft cyst: about 34 cases. 61
31131870 2018
34
Congenital Neck Masses. 61
30396417 2018
35
The "dimple swallow" sign for branchial cleft anomalies. 61
30397158 2018
36
Clinical Study of Second Branchial Cleft Anomalies. 61
29608472 2018
37
Clinical analysis of first branchial cleft anomalies in children. 61
32851251 2018
38
Improving outcomes in the management of first branchial cleft anomalies in children. 61
32851252 2018
39
Spontaneous closure of branchial sinus of the pyriform fossa. 61
29764823 2018
40
A Case of First Branchial Cleft Fistula Presenting with an External Opening on the Root of the Helical Crus. 61
29560006 2018
41
An Effective Surgical Approach for the Management of Recurrent First Branchial Cleft Fistula with Cysts: A Case Report. 61
29092806 2017
42
Efficacy and Safety of Ethanol Ablation for Branchial Cleft Cysts. 61
28970243 2017
43
The treatment for the first branchial cleft anomalies in children. 61
28634783 2017
44
First branchial cleft anomalies in children: Experience with 30 cases. 61
28672934 2017
45
A Rare Case Report of a Child Coexistence Thyroglossal Cyst and Second Branchial Cleft Fistulae. 61
28607902 2017
46
Clinicopathological characteristics of cervical chondrocutaneous branchial remnant: a single-institutional experience. 61
31966875 2017
47
Complications in head and neck surgery. 61
27989359 2016
48
A fatal case of severe neck abscess due to a third branchial cleft fistula: morphologic and immunohistochemical analyses. 61
27628180 2016
49
Intraoperative use of fibrin glue dyed with methylene blue in surgery for branchial cleft anomalies. 61
26927898 2016
50
Avoiding surgical pitfalls during resection of a "hybrid" first and second branchial cleft cyst - A case report. 61
27368450 2016
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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
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
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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