BOS2
MCID: BRN073
MIFTS: 20

Branchiootic Syndrome 2 (BOS2)

Categories: Ear diseases, Fetal diseases, Genetic diseases, Nephrological diseases, Rare diseases

Aliases & Classifications for Branchiootic Syndrome 2

MalaCards integrated aliases for Branchiootic Syndrome 2:

Name: Branchiootic Syndrome 2 56 13 71
Bo Syndrome 2; Bos2 56
Bo Syndrome 2 56
Bos2 56

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant


HPO:

31
branchiootic syndrome 2:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 56 120502
MedGen 41 C1852718
UMLS 71 C1852718

Summaries for Branchiootic Syndrome 2

MalaCards based summary : Branchiootic Syndrome 2, also known as bo syndrome 2; bos2, is related to branchiootic syndrome and ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus. An important gene associated with Branchiootic Syndrome 2 is BOS2 (Branchiootic Syndrome 2). Affiliated tissues include liver, lung and neutrophil, and related phenotypes are hearing impairment and preauricular pit

More information from OMIM: 120502

Related Diseases for Branchiootic Syndrome 2

Diseases in the Branchiootic Syndrome family:

Branchiootic Syndrome 2 Branchiootic Syndrome 1
Branchiootic Syndrome 3

Diseases related to Branchiootic Syndrome 2 via text searches within MalaCards or GeneCards Suite gene sharing:

(showing 2, show less)
# Related Disease Score Top Affiliating Genes
1 branchiootic syndrome 11.4
2 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.3

Symptoms & Phenotypes for Branchiootic Syndrome 2

Human phenotypes related to Branchiootic Syndrome 2:

31 (showing 4, show less)
# Description HPO Frequency HPO Source Accession
1 hearing impairment 31 HP:0000365
2 preauricular pit 31 HP:0004467
3 abnormality of the pinna 31 HP:0000377
4 commissural lip pit 31 HP:0002710

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Mouth:
commissural lip pits

Head And Neck Ears:
external ear anomaly
preauricular sinuses or cysts
congenital hearing loss

Clinical features from OMIM:

120502

Drugs & Therapeutics for Branchiootic Syndrome 2

Interventional clinical trials:

(showing 1, show less)
# Name Status NCT ID Phase Drugs
1 BOS3: Randomized Phase II/III Trial Evaluating the Efficacy of FOLFOX Alone Versus FOLFOX Plus Aflibercept in K-ras Mutant as Perioperative Treatment in Patients With Resectable Liver Metastases From Colorectal Cancer. Withdrawn NCT01646554 Phase 2, Phase 3 Modified FOLFOX6

Search NIH Clinical Center for Branchiootic Syndrome 2

Genetic Tests for Branchiootic Syndrome 2

Anatomical Context for Branchiootic Syndrome 2

MalaCards organs/tissues related to Branchiootic Syndrome 2:

40
Liver, Lung, Neutrophil

Publications for Branchiootic Syndrome 2

Articles related to Branchiootic Syndrome 2:

(showing 11, show less)
# Title Authors PMID Year
1
Genomewide search and genetic localization of a second gene associated with autosomal dominant branchio-oto-renal syndrome: clinical and genetic implications. 56
10762556 2000
2
Autosomal-dominant branchio-otic (BO) syndrome is not allelic to the branchio-oto-renal (BOR) gene at 8q13. 56
9556298 1998
3
Congenital conductive or mixed deafness, preauricular sinus, external ear anomaly, and commissural lip pits: an autosomal dominant inherited syndrome. 56
1746829 1991
4
Pits of the lip commissures in Caucasoid males. 56
5215910 1966
5
Mesenchymal Stromal Cell Therapy for Chronic Lung Allograft Dysfunction: Results of a First-in-Man Study. 61
28186707 2017
6
De novo donor HLA-specific antibodies predict development of bronchiolitis obliterans syndrome after lung transplantation. 61
25130554 2014
7
Refining the locus of branchio-otic syndrome 2 (BOS2) to a 5.25 Mb locus on chromosome 1q31.3q32.1. 61
19772953 2009
8
Cytokine gene polymorphisms are not associated with bronchiolitis obliterans syndrome or survival after lung transplant. 61
17097497 2006
9
Proteomic identification of human neutrophil alpha-defensins in chronic lung allograft rejection. 61
15800973 2005
10
The BOS loci of Arabidopsis are required for resistance to Botrytis cinerea infection. 61
15500471 2004
11
Quantitative study of the short range order in B2O3 and B2S3 by MAS and two-dimensional triple-quantum MAS 11B NMR. 61
9203284 1997

Variations for Branchiootic Syndrome 2

Expression for Branchiootic Syndrome 2

Search GEO for disease gene expression data for Branchiootic Syndrome 2.

Pathways for Branchiootic Syndrome 2

GO Terms for Branchiootic Syndrome 2

Sources for Branchiootic Syndrome 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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