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 57
Second Branchial Cleft Cyst 59 73
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:



External Ids:

OMIM 57 113600
Orphanet 59 ORPHA141022
ICD10 via Orphanet 34 Q18.0
SNOMED-CT via HPO 69 263681008 298390003 40052002
UMLS 73 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 12)
# Related Disease Score Top Affiliating Genes
1 first branchial cleft anomaly 12.5
2 fourth branchial cleft anomaly 12.4
3 third branchial cleft anomaly 12.3
4 branchiootic syndrome 1 11.2
5 desanto-shinawi syndrome 11.2
6 sarcoma, synovial 10.1
7 thrombosis 10.1
8 sarcoma 10.1
9 squamous cell carcinoma 10.1
10 lambert syndrome 10.1
11 heart disease 10.1
12 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

Symptoms via clinical synopsis from OMIM:

57
Neck:
cysts, sinuses or fistulas


Clinical features from OMIM:

113600

Human phenotypes related to Branchial Cleft Anomalies:

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

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:

41
Skin, Heart

Publications for Branchial Cleft Anomalies

Articles related to Branchial Cleft Anomalies:

(show top 50) (show all 65)
# Title Authors Year
1
Clinical Study of Second Branchial Cleft Anomalies. ( 29608472 )
2018
2
Second branchial cleft anomalies in children: a literature review. ( 30251021 )
2018
3
The "dimple swallow" sign for branchial cleft anomalies. ( 30397158 )
2018
4
The treatment for the first branchial cleft anomalies in children. ( 28634783 )
2017
5
First branchial cleft anomalies in children: Experience with 30 cases. ( 28672934 )
2017
6
Branchial cleft anomalies: a pictorial review of embryological development and spectrum of imaging findings. ( 26661849 )
2016
7
Intraoperative use of fibrin glue dyed with methylene blue in surgery for branchial cleft anomalies. ( 26927898 )
2016
8
Avoiding surgical pitfalls during resection of a "hybrid" first and second branchial cleft cyst - A case report. ( 27368450 )
2016
9
The relationship between the fistula tract and the facial nerve in type II first branchial cleft anomalies. ( 25239084 )
2015
10
Branchial cleft anomalies and thymic cysts. ( 25442127 )
2015
11
First branchial cleft anomalies: otologic manifestations and treatment outcomes. ( 25524898 )
2015
12
Management of First Branchial Cleft Anomalies via a Cartilage-Splitting Technique. ( 25805642 )
2015
13
Second Branchial Cleft Cyst. ( 25421295 )
2015
14
Endoscope-assisted second branchial cleft cyst resection via an incision along skin line on lateral neck. ( 24292216 )
2014
15
Second branchial cleft cyst. ( 24472359 )
2014
16
First branchial cleft anomalies: presentation, variability and safe surgical management. ( 23192665 )
2013
17
First branchial cleft anomalies: avoiding the misdiagnosis. ( 24427578 )
2013
18
Diagnosis and treatment of branchial cleft anomalies in UKMMC: a 10-year retrospective study. ( 23053382 )
2013
19
Synovial sarcoma of the neck masquerading as a malignant second branchial cleft cyst. ( 24133608 )
2013
20
Cervical cystic vagal schwannoma mimicking a type 3 second branchial cleft cyst: a case report. ( 23682945 )
2013
21
Multiple branchial cleft anomalies in conjunction with a congenital dermal fistula of the lower extremity: first report of the Guarisco-Winters syndrome. ( 22196793 )
2012
22
Branchial cleft anomalies: accuracy of pre-operative diagnosis, clinical presentation and management. ( 22494467 )
2012
23
Endoscope-assisted versus conventional second branchial cleft cyst resection. ( 22179440 )
2012
24
Surgical technique for excision of first branchial cleft anomalies: how we do it. ( 21848550 )
2011
25
Cystic schwannoma of the cervical plexus masquerading as a type II second branchial cleft cyst. ( 18418621 )
2009
26
Second branchial cleft cyst: not!! ( 19556351 )
2009
27
Management of second branchial cleft anomalies. ( 18273506 )
2008
28
Presentation of first branchial cleft anomalies: the Sheffield experience. ( 17125580 )
2007
29
Second branchial cleft cyst with "cyst-within-cyst" appearance. ( 17825746 )
2007
30
Second branchial cleft cyst causing internal jugular vein thrombosis - A case report. ( 23120450 )
2007
31
First branchial cleft anomalies have relevance in otology and more. ( 15937575 )
2005
32
Bilateral pharyngoceles (branchial cleft anomalies?) and endoscopic surgical considerations. ( 16134348 )
2005
33
Squamous cell carcinoma arising in a second branchial cleft cyst. ( 14758141 )
2004
34
Radiology quiz case 2. Parapharyngeal second branchial cleft cyst. ( 15381605 )
2004
35
Branchial cleft anomalies (branchial cleft cyst, cervical lympho-epithelial cyst). ( 12731607 )
2003
36
Anatomical variations of the facial nerve in first branchial cleft anomalies. ( 12622548 )
2003
37
A case of second branchial cleft cyst with oropharyngeal presentation. ( 12172058 )
2002
38
Management of first branchial cleft anomalies: report of two cases. ( 11178852 )
2001
39
Radiology quiz case 2. Second branchial cleft cyst and fistula. ( 11701084 )
2001
40
Branchial cleft anomalies and bronchogenic cysts are two unrelated disorders of embryogenesis. ( 10990592 )
2000
41
First branchial cleft anomalies: a study of 39 cases and a review of the literature. ( 9525513 )
1998
42
First branchial cleft anomalies: report of 12 cases. ( 9818535 )
1998
43
Clinical features of first branchial cleft anomalies. ( 8827287 )
1996
44
Multiple branchial cleft anomalies. ( 7548383 )
1995
45
Branchial cleft anomalies--a study of 20 cases. ( 8754287 )
1995
46
Thyroglossal duct cysts and branchial cleft anomalies. ( 7987629 )
1994
47
Nasopharyngeal presentation of second branchial cleft cyst. ( 8108159 )
1994
48
Second branchial cleft anomalies presenting as pharyngeal masses. ( 8247577 )
1993
49
A variation of first branchial cleft anomalies. ( 15125284 )
1993
50
First branchial cleft anomalies involving the tympanic membrane and middle ear. ( 1945438 )
1991

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 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....