BOS2
MCID: BRN073
MIFTS: 16

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 57 13 73
Bo Syndrome 2; Bos2 57
Bo Syndrome 2 57
Bos2 57

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
branchiootic syndrome 2:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Branchiootic Syndrome 2

MalaCards based summary : Branchiootic Syndrome 2, also known as bo syndrome 2; bos2, is related to branchiootic syndrome. An important gene associated with Branchiootic Syndrome 2 is BOS2 (Branchiootic Syndrome 2). The drugs Oxaliplatin and leucovorin have been mentioned in the context of this disorder. Related phenotypes are hearing impairment and abnormality of the pinna

Description 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:

# Related Disease Score Top Affiliating Genes
1 branchiootic syndrome 11.2

Symptoms & Phenotypes for Branchiootic Syndrome 2

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Branchiootic Syndrome 2:

32
# Description HPO Frequency HPO Source Accession
1 hearing impairment 32 HP:0000365
2 abnormality of the pinna 32 HP:0000377
3 preauricular pit 32 HP:0004467
4 commissural lip pit 32 HP:0002710

Drugs & Therapeutics for Branchiootic Syndrome 2

Drugs for Branchiootic Syndrome 2 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 25)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Oxaliplatin Approved, Investigational Phase 2, Phase 3 61825-94-3 43805 6857599 5310940 9887054
2
leucovorin Approved Phase 2, Phase 3,Phase 3 58-05-9 6006 143
3
Levoleucovorin Approved, Investigational Phase 2, Phase 3 68538-85-2
4
Fluorouracil Approved Phase 2, Phase 3 51-21-8 3385
5
Folic Acid Approved, Nutraceutical, Vet_approved Phase 2, Phase 3 59-30-3 6037
6 Antidotes Phase 2, Phase 3
7 Trace Elements Phase 2, Phase 3
8 Vitamin B9 Phase 2, Phase 3
9 Vitamins Phase 2, Phase 3
10 Micronutrients Phase 2, Phase 3
11 Vitamin B Complex Phase 2, Phase 3
12 Liver Extracts Phase 2, Phase 3
13 Folate Phase 2, Phase 3
14 Hematinics Phase 2, Phase 3
15 Protective Agents Phase 2, Phase 3
16
Bevacizumab Approved, Investigational Phase 2 216974-75-3
17 Immunoglobulins Phase 2
18 Antibodies, Monoclonal Phase 2
19 Antibodies Phase 2
20 Immunosuppressive Agents Phase 2
21 Antimetabolites Phase 2
22 Angiogenesis Modulating Agents Phase 2
23 Angiogenesis Inhibitors Phase 2
24 Antimetabolites, Antineoplastic Phase 2
25 Immunologic Factors Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Efficacy of FOLFOX Versus FOLFOX Plus Aflibercept in K-ras Mutant Patients With Resectable Liver Metastases Withdrawn NCT01646554 Phase 2, Phase 3 Modified FOLFOX6
2 Efficacy of FOLFOX Alone, FOLFOX Plus Bevacizumab and FOLFOX Plus Panitumumab in Patients With Resectable Liver Metastases Terminated NCT01508000 Phase 2 FOLFOX6
3 Sleep Disorders in Bronchiolitis Obliterans Syndrome 2&3 Recruiting NCT02109237 Not Applicable

Search NIH Clinical Center for Branchiootic Syndrome 2

Genetic Tests for Branchiootic Syndrome 2

Anatomical Context for Branchiootic Syndrome 2

Publications for Branchiootic Syndrome 2

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 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
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