MCID: BRN073
MIFTS: 22

Branchiootic Syndrome 2

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 58 13 74
Bo Syndrome 2; Bos2 58
Bo Syndrome 2 58
Bos2 58

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant


HPO:

33
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 leucovorin and Levoleucovorin have been mentioned in the context of this disorder. Affiliated tissues include liver and lung, and 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 11.3

Symptoms & Phenotypes for Branchiootic Syndrome 2

Human phenotypes related to Branchiootic Syndrome 2:

33
# Description HPO Frequency HPO Source Accession
1 hearing impairment 33 HP:0000365
2 abnormality of the pinna 33 HP:0000377
3 preauricular pit 33 HP:0004467
4 commissural lip pit 33 HP:0002710

Symptoms via clinical synopsis from OMIM:

58
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

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

(show all 32)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
leucovorin Approved Phase 2, Phase 3,Phase 3 58-05-9 143 6006
2
Levoleucovorin Approved, Investigational Phase 2, Phase 3 68538-85-2
3
Oxaliplatin Approved, Investigational Phase 2, Phase 3 61825-94-3 43805 6857599 5310940 9887054
4
Fluorouracil Approved Phase 2, Phase 3 51-21-8 3385
5
Sirolimus Approved, Investigational Phase 3 53123-88-9 46835353 5284616 6436030
6
Miconazole Approved, Investigational, Vet_approved Phase 3 22916-47-8 4189
7
Everolimus Approved Phase 3 159351-69-6 70789204 6442177
8
Folic Acid Approved, Nutraceutical, Vet_approved Phase 2, Phase 3 59-30-3 6037
9 Nutrients Phase 2, Phase 3
10 Vitamin B Complex Phase 2, Phase 3
11 Vitamin B9 Phase 2, Phase 3
12 Vitamins Phase 2, Phase 3
13 Trace Elements Phase 2, Phase 3
14 Liver Extracts Phase 2, Phase 3
15 Hematinics Phase 2, Phase 3
16 Folate Phase 2, Phase 3
17 Antidotes Phase 2, Phase 3
18 Protective Agents Phase 2, Phase 3
19 Micronutrients Phase 2, Phase 3
20 Anti-Infective Agents Phase 3
21 Anti-Bacterial Agents Phase 3
22 Immunosuppressive Agents Phase 3,Phase 2
23 Antifungal Agents Phase 3
24 Immunologic Factors Phase 3,Phase 2
25 Antibiotics, Antitubercular Phase 3
26
Panitumumab Approved, Investigational Phase 2 339177-26-3 50070211
27
Bevacizumab Approved, Investigational Phase 2 216974-75-3
28 Antimetabolites, Antineoplastic Phase 2
29 Angiogenesis Inhibitors Phase 2
30 Angiogenesis Modulating Agents Phase 2
31 Antineoplastic Agents, Immunological Phase 2
32 Antimetabolites 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 Regarding Renal Function of Everolimus in Combination With Specific Standard Immunosuppressive Regimen Lung Transplant Recipients Completed NCT01404325 Phase 3 standard therapy;Everolimus
3 Efficacy of FOLFOX Alone, FOLFOX Plus Bevacizumab and FOLFOX Plus Panitumumab in Patients With Resectable Liver Metastases Terminated NCT01508000 Phase 2 FOLFOX6
4 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

MalaCards organs/tissues related to Branchiootic Syndrome 2:

42
Liver, Lung

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 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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