TBS2
MCID: TWN010
MIFTS: 22

Townes-Brocks Syndrome 2 (TBS2)

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

Aliases & Classifications for Townes-Brocks Syndrome 2

MalaCards integrated aliases for Townes-Brocks Syndrome 2:

Name: Townes-Brocks Syndrome 2 58 76 6
Tbs2 58 76
Syndrome, Townes-Brocks, Type 2 41

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
based on report of 1 family
thumb abnormalities were not observed in this family


HPO:

33
townes-brocks syndrome 2:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Townes-Brocks Syndrome 2

UniProtKB/Swiss-Prot : 76 Townes-Brocks syndrome 2: A form of Townes-Brocks syndrome, a rare autosomal dominant disease characterized by the triad of imperforate anus, dysplastic ears, and thumb malformations. Minor features of the condition include hearing loss, foot malformations, renal impairment with or without renal malformations, genitourinary malformations, and congenital heart disease.

MalaCards based summary : Townes-Brocks Syndrome 2, is also known as tbs2. An important gene associated with Townes-Brocks Syndrome 2 is DACT1 (Dishevelled Binding Antagonist Of Beta Catenin 1). The drugs Testosterone and Testosterone enanthate have been mentioned in the context of this disorder. Affiliated tissues include uterus, and related phenotypes are scoliosis and microtia

Description from OMIM: 617466

Related Diseases for Townes-Brocks Syndrome 2

Diseases in the Townes-Brocks Syndrome family:

Townes-Brocks Syndrome 1 Townes-Brocks Syndrome 2

Symptoms & Phenotypes for Townes-Brocks Syndrome 2

Human phenotypes related to Townes-Brocks Syndrome 2:

33 (show all 10)
# Description HPO Frequency HPO Source Accession
1 scoliosis 33 HP:0002650
2 microtia 33 HP:0008551
3 hypospadias 33 HP:0000047
4 anal atresia 33 HP:0002023
5 overfolded helix 33 HP:0000396
6 spina bifida occulta 33 HP:0003298
7 rectovaginal fistula 33 HP:0000143
8 cupped ear 33 HP:0000378
9 crossed fused renal ectopia 33 HP:0004736
10 bifid uterus 33 HP:0000136

Symptoms via clinical synopsis from OMIM:

58
Skeletal Spine:
scoliosis
spina bifida occulta

Abdomen Gastrointestinal:
rectovaginal fistula
imperforate anus

Genitourinary Internal Genitalia Female:
bifid uterus

Genitourinary Bladder:
reflux

Genitourinary External Genitalia Male:
hypospadias

Genitourinary Kidneys:
crossed fused renal ectopia

Head And Neck Ears:
cupped ears
overfolded helices
unilateral microtia

Clinical features from OMIM:

617466

Drugs & Therapeutics for Townes-Brocks Syndrome 2

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

(show all 11)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Testosterone Approved, Experimental, Investigational Phase 2,Phase 1 58-22-0, 481-30-1 6013 10204
2
Testosterone enanthate Approved Phase 2,Phase 1 315-37-7 9416
3
Testosterone undecanoate Approved, Investigational Phase 2,Phase 1 5949-44-0
4
Methyltestosterone Approved Phase 2,Phase 1 58-18-4 6010
5 Androgens Phase 2,Phase 1
6 Hormones Phase 2,Phase 1
7 Antineoplastic Agents, Hormonal Phase 2,Phase 1
8 Hormone Antagonists Phase 2,Phase 1
9 Anabolic Agents Phase 2,Phase 1
10 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 2,Phase 1
11 Testosterone 17 beta-cypionate Phase 2,Phase 1

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Efficacy and Safety of TBS-2 Testosterone Gel in Women With Acquired Female Orgasmic Disorder Completed NCT01607658 Phase 2 Placebo;Low dose TBS-2;Medium dose TBS-2;High dose TBS-2
2 PK Study of Testosterone Nasal Gel (TBS-2) in Healthy Premenopausal Women Completed NCT01364623 Phase 1 Low dose testosterone nasal gel;Medium dose testosterone nasal gel;High dose testosterone nasal gel;Medium dose testosterone nasal gel

Search NIH Clinical Center for Townes-Brocks Syndrome 2

Genetic Tests for Townes-Brocks Syndrome 2

Anatomical Context for Townes-Brocks Syndrome 2

MalaCards organs/tissues related to Townes-Brocks Syndrome 2:

42
Uterus

Publications for Townes-Brocks Syndrome 2

Articles related to Townes-Brocks Syndrome 2:

# Title Authors Year
1
A Recombinant Highly Thermostable β-Mannanase (ReTMan26) from Thermophilic Bacillus subtilis (TBS2) Expressed in Pichia pastoris and Its pH and Temperature Stability. ( 28101787 )
2017

Variations for Townes-Brocks Syndrome 2

ClinVar genetic disease variations for Townes-Brocks Syndrome 2:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 DACT1 NM_016651.5(DACT1): c.1256G> A (p.Trp419Ter) single nucleotide variant Pathogenic rs1064797092 GRCh38 Chromosome 14, 58645879: 58645879
2 DACT1 NM_016651.5(DACT1): c.1256G> A (p.Trp419Ter) single nucleotide variant Pathogenic rs1064797092 GRCh37 Chromosome 14, 59112597: 59112597

Expression for Townes-Brocks Syndrome 2

Search GEO for disease gene expression data for Townes-Brocks Syndrome 2.

Pathways for Townes-Brocks Syndrome 2

GO Terms for Townes-Brocks Syndrome 2

Sources for Townes-Brocks 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
Content
Loading form....