MCID: BRN129
MIFTS: 22

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 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 ectasia of the right atrial appendage 10.8
7 sarcoma, synovial 10.1
8 thrombosis 10.1
9 sarcoma 10.1
10 squamous cell carcinoma 10.1
11 neurilemmoma 10.1
12 lambert syndrome 10.1
13 cholesteatoma of middle ear 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

Publications for Branchial Cleft Anomalies

Articles related to Branchial Cleft Anomalies:

(show top 50) (show all 66)
# Title Authors Year
1
Bilateral Ear Canal Cholesteatoma with Underlying Type I First Branchial Cleft Anomalies. ( 30607978 )
2019
2
Clinical Study of Second Branchial Cleft Anomalies. ( 29608472 )
2018
3
Second branchial cleft anomalies in children: a literature review. ( 30251021 )
2018
4
The "dimple swallow" sign for branchial cleft anomalies. ( 30397158 )
2018
5
The treatment for the first branchial cleft anomalies in children. ( 28634783 )
2017
6
First branchial cleft anomalies in children: Experience with 30 cases. ( 28672934 )
2017
7
Branchial cleft anomalies: a pictorial review of embryological development and spectrum of imaging findings. ( 26661849 )
2016
8
Intraoperative use of fibrin glue dyed with methylene blue in surgery for branchial cleft anomalies. ( 26927898 )
2016
9
Avoiding surgical pitfalls during resection of a "hybrid" first and second branchial cleft cyst - A case report. ( 27368450 )
2016
10
The relationship between the fistula tract and the facial nerve in type II first branchial cleft anomalies. ( 25239084 )
2015
11
Branchial cleft anomalies and thymic cysts. ( 25442127 )
2015
12
First branchial cleft anomalies: otologic manifestations and treatment outcomes. ( 25524898 )
2015
13
Management of First Branchial Cleft Anomalies via a Cartilage-Splitting Technique. ( 25805642 )
2015
14
Second Branchial Cleft Cyst. ( 25421295 )
2015
15
Endoscope-assisted second branchial cleft cyst resection via an incision along skin line on lateral neck. ( 24292216 )
2014
16
Second branchial cleft cyst. ( 24472359 )
2014
17
First branchial cleft anomalies: presentation, variability and safe surgical management. ( 23192665 )
2013
18
First branchial cleft anomalies: avoiding the misdiagnosis. ( 24427578 )
2013
19
Diagnosis and treatment of branchial cleft anomalies in UKMMC: a 10-year retrospective study. ( 23053382 )
2013
20
Synovial sarcoma of the neck masquerading as a malignant second branchial cleft cyst. ( 24133608 )
2013
21
Cervical cystic vagal schwannoma mimicking a type 3 second branchial cleft cyst: a case report. ( 23682945 )
2013
22
Multiple branchial cleft anomalies in conjunction with a congenital dermal fistula of the lower extremity: first report of the Guarisco-Winters syndrome. ( 22196793 )
2012
23
Branchial cleft anomalies: accuracy of pre-operative diagnosis, clinical presentation and management. ( 22494467 )
2012
24
Endoscope-assisted versus conventional second branchial cleft cyst resection. ( 22179440 )
2012
25
Surgical technique for excision of first branchial cleft anomalies: how we do it. ( 21848550 )
2011
26
Cystic schwannoma of the cervical plexus masquerading as a type II second branchial cleft cyst. ( 18418621 )
2009
27
Second branchial cleft cyst: not!! ( 19556351 )
2009
28
Management of second branchial cleft anomalies. ( 18273506 )
2008
29
Presentation of first branchial cleft anomalies: the Sheffield experience. ( 17125580 )
2007
30
Second branchial cleft cyst with "cyst-within-cyst" appearance. ( 17825746 )
2007
31
Second branchial cleft cyst causing internal jugular vein thrombosis - A case report. ( 23120450 )
2007
32
First branchial cleft anomalies have relevance in otology and more. ( 15937575 )
2005
33
Bilateral pharyngoceles (branchial cleft anomalies?) and endoscopic surgical considerations. ( 16134348 )
2005
34
Squamous cell carcinoma arising in a second branchial cleft cyst. ( 14758141 )
2004
35
Radiology quiz case 2. Parapharyngeal second branchial cleft cyst. ( 15381605 )
2004
36
Branchial cleft anomalies (branchial cleft cyst, cervical lympho-epithelial cyst). ( 12731607 )
2003
37
Anatomical variations of the facial nerve in first branchial cleft anomalies. ( 12622548 )
2003
38
A case of second branchial cleft cyst with oropharyngeal presentation. ( 12172058 )
2002
39
Management of first branchial cleft anomalies: report of two cases. ( 11178852 )
2001
40
Radiology quiz case 2. Second branchial cleft cyst and fistula. ( 11701084 )
2001
41
Branchial cleft anomalies and bronchogenic cysts are two unrelated disorders of embryogenesis. ( 10990592 )
2000
42
First branchial cleft anomalies: a study of 39 cases and a review of the literature. ( 9525513 )
1998
43
First branchial cleft anomalies: report of 12 cases. ( 9818535 )
1998
44
Clinical features of first branchial cleft anomalies. ( 8827287 )
1996
45
Multiple branchial cleft anomalies. ( 7548383 )
1995
46
Branchial cleft anomalies--a study of 20 cases. ( 8754287 )
1995
47
Thyroglossal duct cysts and branchial cleft anomalies. ( 7987629 )
1994
48
Nasopharyngeal presentation of second branchial cleft cyst. ( 8108159 )
1994
49
Second branchial cleft anomalies presenting as pharyngeal masses. ( 8247577 )
1993
50
A variation of first branchial cleft anomalies. ( 15125284 )
1993

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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