MCID: BRN129
MIFTS: 23

Branchial Cleft Anomalies

Categories: Fetal diseases, Oral diseases, Rare diseases

Aliases & Classifications for Branchial Cleft Anomalies

MalaCards integrated aliases for Branchial Cleft Anomalies:

Name: Branchial Cleft Anomalies 58
Second Branchial Cleft Cyst 60 74
Second Branchial Cleft Anomaly 60
Second Branchial Cleft Fistula 60

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant


HPO:

33
branchial cleft anomalies:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 58 113600
ICD10 via Orphanet 35 Q18.0
Orphanet 60 ORPHA141022
SNOMED-CT via HPO 70 263681008 298390003 40052002
UMLS 74 C3874315

Summaries for Branchial Cleft Anomalies

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 skin and heart, and related phenotype is abnormality of the neck.

Description from OMIM: 113600

Related Diseases for Branchial Cleft Anomalies

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

(show all 15)
# Related Disease Score Top Affiliating Genes
1 first branchial cleft anomaly 12.5
2 fourth branchial cleft anomaly 12.5
3 third branchial cleft anomaly 12.3
4 branchiootic syndrome 1 11.2
5 desanto-shinawi syndrome 11.2
6 cholesteatoma of middle ear 10.3
7 sarcoma, synovial 10.1
8 thrombosis 10.1
9 sarcoma 10.1
10 squamous cell carcinoma 10.1
11 papillary carcinoma 10.1
12 neurilemmoma 10.1
13 lambert syndrome 10.1
14 heart disease 10.1
15 biliary atresia 10.1

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



Diseases related to Branchial Cleft Anomalies

Symptoms & Phenotypes for Branchial Cleft Anomalies

Human phenotypes related to Branchial Cleft Anomalies:

33
# Description HPO Frequency HPO Source Accession
1 abnormality of the neck 33 HP:0000464

Symptoms via clinical synopsis from OMIM:

58
Neck:
cysts, sinuses or fistulas

Clinical features from OMIM:

113600

Drugs & Therapeutics for Branchial Cleft Anomalies

Search Clinical Trials , NIH Clinical Center for Branchial Cleft Anomalies

Genetic Tests for Branchial Cleft Anomalies

Anatomical Context for Branchial Cleft Anomalies

MalaCards organs/tissues related to Branchial Cleft Anomalies:

42
Skin, Heart

Publications for Branchial Cleft Anomalies

Articles related to Branchial Cleft Anomalies:

(show top 50) (show all 69)
# Title Authors Year
1
Bilateral Ear Canal Cholesteatoma with Underlying Type I First Branchial Cleft Anomalies. ( 30607978 )
2019
2
Differences in management outcome for first branchial cleft anomalies: A comparison of infants and toddlers to older children. ( 31029951 )
2019
3
Radiologic Features of Papillary Carcinoma in the Second Branchial Cleft Cyst. ( 30961385 )
2019
4
Unusual Presentation of a Large Multilocular Second Branchial Cleft Cyst. ( 31033768 )
2019
5
Clinical Study of Second Branchial Cleft Anomalies. ( 29608472 )
2018
6
Second branchial cleft anomalies in children: a literature review. ( 30251021 )
2018
7
The "dimple swallow" sign for branchial cleft anomalies. ( 30397158 )
2018
8
The treatment for the first branchial cleft anomalies in children. ( 28634783 )
2017
9
First branchial cleft anomalies in children: Experience with 30 cases. ( 28672934 )
2017
10
Branchial cleft anomalies: a pictorial review of embryological development and spectrum of imaging findings. ( 26661849 )
2016
11
Intraoperative use of fibrin glue dyed with methylene blue in surgery for branchial cleft anomalies. ( 26927898 )
2016
12
Avoiding surgical pitfalls during resection of a "hybrid" first and second branchial cleft cyst - A case report. ( 27368450 )
2016
13
The relationship between the fistula tract and the facial nerve in type II first branchial cleft anomalies. ( 25239084 )
2015
14
Branchial cleft anomalies and thymic cysts. ( 25442127 )
2015
15
First branchial cleft anomalies: otologic manifestations and treatment outcomes. ( 25524898 )
2015
16
Management of First Branchial Cleft Anomalies via a Cartilage-Splitting Technique. ( 25805642 )
2015
17
Second Branchial Cleft Cyst. ( 25421295 )
2015
18
Second branchial cleft cyst. ( 24472359 )
2014
19
Endoscope-assisted second branchial cleft cyst resection via an incision along skin line on lateral neck. ( 24292216 )
2014
20
Diagnosis and treatment of branchial cleft anomalies in UKMMC: a 10-year retrospective study. ( 23053382 )
2013
21
First branchial cleft anomalies: presentation, variability and safe surgical management. ( 23192665 )
2013
22
First branchial cleft anomalies: avoiding the misdiagnosis. ( 24427578 )
2013
23
Cervical cystic vagal schwannoma mimicking a type 3 second branchial cleft cyst: a case report. ( 23682945 )
2013
24
Synovial sarcoma of the neck masquerading as a malignant second branchial cleft cyst. ( 24133608 )
2013
25
Multiple branchial cleft anomalies in conjunction with a congenital dermal fistula of the lower extremity: first report of the Guarisco-Winters syndrome. ( 22196793 )
2012
26
Branchial cleft anomalies: accuracy of pre-operative diagnosis, clinical presentation and management. ( 22494467 )
2012
27
Endoscope-assisted versus conventional second branchial cleft cyst resection. ( 22179440 )
2012
28
Surgical technique for excision of first branchial cleft anomalies: how we do it. ( 21848550 )
2011
29
Second branchial cleft cyst: not!! ( 19556351 )
2009
30
Cystic schwannoma of the cervical plexus masquerading as a type II second branchial cleft cyst. ( 18418621 )
2009
31
Management of second branchial cleft anomalies. ( 18273506 )
2008
32
Presentation of first branchial cleft anomalies: the Sheffield experience. ( 17125580 )
2007
33
Second branchial cleft cyst causing internal jugular vein thrombosis - A case report. ( 23120450 )
2007
34
Second branchial cleft cyst with "cyst-within-cyst" appearance. ( 17825746 )
2007
35
First branchial cleft anomalies have relevance in otology and more. ( 15937575 )
2005
36
Bilateral pharyngoceles (branchial cleft anomalies?) and endoscopic surgical considerations. ( 16134348 )
2005
37
Radiology quiz case 2. Parapharyngeal second branchial cleft cyst. ( 15381605 )
2004
38
Squamous cell carcinoma arising in a second branchial cleft cyst. ( 14758141 )
2004
39
Anatomical variations of the facial nerve in first branchial cleft anomalies. ( 12622548 )
2003
40
Branchial cleft anomalies (branchial cleft cyst, cervical lympho-epithelial cyst). ( 12731607 )
2003
41
A case of second branchial cleft cyst with oropharyngeal presentation. ( 12172058 )
2002
42
Management of first branchial cleft anomalies: report of two cases. ( 11178852 )
2001
43
Radiology quiz case 2. Second branchial cleft cyst and fistula. ( 11701084 )
2001
44
Branchial cleft anomalies and bronchogenic cysts are two unrelated disorders of embryogenesis. ( 10990592 )
2000
45
First branchial cleft anomalies: a study of 39 cases and a review of the literature. ( 9525513 )
1998
46
First branchial cleft anomalies: report of 12 cases. ( 9818535 )
1998
47
Clinical features of first branchial cleft anomalies. ( 8827287 )
1996
48
Multiple branchial cleft anomalies. ( 7548383 )
1995
49
Branchial cleft anomalies--a study of 20 cases. ( 8754287 )
1995
50
Thyroglossal duct cysts and branchial cleft anomalies. ( 7987629 )
1994

Variations for Branchial Cleft Anomalies

Expression for Branchial Cleft Anomalies

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

Pathways for Branchial Cleft Anomalies

GO Terms for Branchial Cleft Anomalies

Sources for Branchial Cleft Anomalies

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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