MCID: TWN010
MIFTS: 22

Townes-Brocks Syndrome 2

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

Aliases & Classifications for Townes-Brocks Syndrome 2

MalaCards integrated aliases for Townes-Brocks Syndrome 2:

Name: Townes-Brocks Syndrome 2 57 75 6
Tbs2 57 75
Syndrome, Townes-Brocks, Type 2 40

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

32
townes-brocks syndrome 2:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Townes-Brocks Syndrome 2

UniProtKB/Swiss-Prot : 75 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 Methyltestosterone and Testosterone have been mentioned in the context of this disorder. Affiliated tissues include heart and uterus, and related phenotypes are hypospadias and bifid uterus

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

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Townes-Brocks Syndrome 2:

32 (show all 9)
# Description HPO Frequency HPO Source Accession
1 hypospadias 32 HP:0000047
2 bifid uterus 32 HP:0000136
3 rectovaginal fistula 32 HP:0000143
4 cupped ear 32 HP:0000378
5 overfolded helix 32 HP:0000396
6 anal atresia 32 HP:0002023
7 scoliosis 32 HP:0002650
8 spina bifida occulta 32 HP:0003298
9 crossed fused renal ectopia 32 HP:0004736

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
Methyltestosterone Approved Phase 2,Phase 1 58-18-4 6010
2
Testosterone Approved, Investigational Phase 2,Phase 1 58-22-0 6013
3
Testosterone enanthate Approved Phase 2,Phase 1 315-37-7 9416
4
Testosterone undecanoate Approved, Investigational Phase 2,Phase 1 5949-44-0
5 Anabolic Agents Phase 2,Phase 1
6 Androgens Phase 2,Phase 1
7 Antineoplastic Agents, Hormonal Phase 2,Phase 1
8 Hormone Antagonists Phase 2,Phase 1
9 Hormones 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:

41
Heart, Uterus

Publications for Townes-Brocks Syndrome 2

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 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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