MCID: BRN050
MIFTS: 8

Branchial Arch Defects

Categories: Rare diseases

Aliases & Classifications for Branchial Arch Defects

MalaCards integrated aliases for Branchial Arch Defects:

Name: Branchial Arch Defects 20

Classifications:



Summaries for Branchial Arch Defects

Related Diseases for Branchial Arch Defects

Diseases related to Branchial Arch Defects via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 12)
# Related Disease Score Top Affiliating Genes
1 aksu von stockhausen syndrome 11.3
2 vater/vacterl association 10.0
3 vacterl association with hydrocephalus 10.0
4 vacterl association, x-linked, with or without hydrocephalus 10.0
5 branchiootic syndrome 1 10.0
6 holoprosencephaly 9 10.0
7 microphthalmia 10.0
8 hydrocephalus 10.0
9 vacterl association 10.0
10 dysostosis 10.0
11 holoprosencephaly 10.0
12 vacterl with hydrocephalus 10.0

Graphical network of the top 20 diseases related to Branchial Arch Defects:



Diseases related to Branchial Arch Defects

Symptoms & Phenotypes for Branchial Arch Defects

Drugs & Therapeutics for Branchial Arch Defects

Search Clinical Trials , NIH Clinical Center for Branchial Arch Defects

Genetic Tests for Branchial Arch Defects

Anatomical Context for Branchial Arch Defects

Publications for Branchial Arch Defects

Articles related to Branchial Arch Defects:

(show all 28)
# Title Authors PMID Year
1
Re-focusing on Agnathia-Otocephaly complex. 61
32643087 2021
2
Clinical Phenotype, Immunological Abnormalities, and Genomic Findings in Patients with DiGeorge Spectrum Phenotype without 22q11.2 Deletion. 61
32668295 2020
3
A recognizable phenotype related to 19p13.12 microdeletion. 61
30055032 2018
4
First prenatal case of proximal 19p13.12 microdeletion syndrome: New insights and new delineation of the syndrome. 61
29366875 2018
5
Dominant variants in the splicing factor PUF60 cause a recognizable syndrome with intellectual disability, heart defects and short stature. 61
27804958 2016
6
Prenatal diagnosis and follow-up of a case of branchio-oto-renal syndrome displays renal growth impairment after the second trimester. 61
26227013 2015
7
Branchial arch defects and 19p13.12 microdeletion: defining the critical region into a 0.8 M base interval. 61
21815246 2011
8
Confirmation of TFAP2A gene involvement in branchio-oculo-facial syndrome (BOFS) and report of temporal bone anomalies. 61
19764023 2009
9
Biochemical and functional characterization of six SIX1 Branchio-oto-renal syndrome mutations. 61
19497856 2009
10
Hemifacial microsomia: a case report. 61
18974545 2008
11
Holoprosencephaly spectrum, ano/microphthalmia, and first branchial arch defects: evidence for a new disorder. 61
18049080 2008
12
Transcription factor SIX5 is mutated in patients with branchio-oto-renal syndrome. 61
17357085 2007
13
Tbx1 regulation of myogenic differentiation in the limb and cranial mesoderm. 61
17117436 2007
14
A novel nonsense mutation in the EYA1 gene associated with branchio-oto-renal/branchiootic syndrome in an Afrikaner kindred. 61
16813606 2006
15
Mercury, cadmium, and arsenite enhance heat shock protein synthesis in chick embryos prior to embryotoxicity. 61
14745979 2003
16
Retinoic acid-induced developmental defects are mediated by RARbeta/RXR heterodimers in the pharyngeal endoderm. 61
12668623 2003
17
First branchial cleft sinus presenting with cholesteatoma. 61
10829112 2000
18
Frontonasal malformation and the oculoauriculovertebral spectrum: the oculoauriculofrontonasal syndrome. 61
8939380 1996
19
Retinoic acid embryopathy: case report and review of literature. 61
9025880 1996
20
Associated cardiac anomalies in isolated and syndromic patients with tetralogy of Fallot. 61
8629592 1996
21
VACTERL with hydrocephalus and branchial arch defects: prenatal, clinical, and autopsy findings in two brothers. 61
8882398 1996
22
Embryogenesis in cultured whole rat embryos after combined exposures to 3,3',5-triiodo-L-thyronine (T3) plus all-trans-retinoic acid and to T3 plus 9-cis-retinoic acid. 61
8071425 1994
23
Defects of the first branchial cleft. 61
8169509 1994
24
Neural tube and other developmental anomalies in the guinea pig following maternal hyperthermia during early neural tube development. 61
1354895 1992
25
Anophthalmos and first branchial arch defects. 61
4094732 1985
26
Familial mixed deafness with branchial arch defects (earpits-deafness syndrome). 61
4075550 1985
27
X-linked syndrome of branchial arch and other defects. 61
4039890 1985
28
Hereditary branchial arch defects in a Turkish family. 61
6468450 1984

Variations for Branchial Arch Defects

Expression for Branchial Arch Defects

Search GEO for disease gene expression data for Branchial Arch Defects.

Pathways for Branchial Arch Defects

GO Terms for Branchial Arch Defects

Sources for Branchial Arch Defects

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-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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