TBS2
MCID: TWN010
MIFTS: 21

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 57 74 29 6
Tbs2 57 74
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:



External Ids:

MeSH 44 D000015

Summaries for Townes-Brocks Syndrome 2

UniProtKB/Swiss-Prot : 74 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). Affiliated tissues include heart, uterus and cortex, and related phenotypes are scoliosis and microtia

More information from OMIM: 617466 PS107480

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:

32 (show all 10)
# Description HPO Frequency HPO Source Accession
1 scoliosis 32 HP:0002650
2 microtia 32 HP:0008551
3 hypospadias 32 HP:0000047
4 overfolded helix 32 HP:0000396
5 anal atresia 32 HP:0002023
6 spina bifida occulta 32 HP:0003298
7 rectovaginal fistula 32 HP:0000143
8 cupped ear 32 HP:0000378
9 crossed fused renal ectopia 32 HP:0004736
10 bifid uterus 32 HP:0000136

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

Drugs & Therapeutics for Townes-Brocks Syndrome 2

Search Clinical Trials , NIH Clinical Center for Townes-Brocks Syndrome 2

Genetic Tests for Townes-Brocks Syndrome 2

Genetic tests related to Townes-Brocks Syndrome 2:

# Genetic test Affiliating Genes
1 Townes-Brocks Syndrome 2 29 DACT1

Anatomical Context for Townes-Brocks Syndrome 2

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

41
Heart, Uterus, Cortex, Cingulate Cortex

Publications for Townes-Brocks Syndrome 2

Articles related to Townes-Brocks Syndrome 2:

# Title Authors PMID Year
1
Heterozygous Pathogenic Variant in DACT1 Causes an Autosomal-Dominant Syndrome with Features Overlapping Townes-Brocks Syndrome. 8 71
28054444 2017
2
A Recombinant Highly Thermostable β-Mannanase (ReTMan26) from Thermophilic Bacillus subtilis (TBS2) Expressed in Pichia pastoris and Its pH and Temperature Stability. 38
28101787 2017
3
Structural and mechanistic insights into the recruitment of talin by RIAM in integrin signaling. 38
25465129 2014
4
[Model of chronic salmonellosis: parameters of infection and immune response in inbred mice genetically variable in susceptibility to salmonellosis]. 38
22937698 2012
5
Differential effects of long and short train theta burst stimulation on LTP induction in rat anterior cingulate cortex slices: multi-electrode array recordings. 38
19784087 2009
6
Reproducibility of classification and correction for verification bias as determinants of performance of Papanicolaou smear cytology in the screening setting: experience from the New Independent States of the former Soviet Union cohort study. 38
19798883 2009
7
Bond strength and degree of infiltration between acrylic resin denture liner after immersion in effervescent denture cleanser. 38
19178623 2009
8
Multigenic control of disease severity after virulent Mycobacterium tuberculosis infection in mice. 38
12496157 2003

Variations for Townes-Brocks Syndrome 2

ClinVar genetic disease variations for Townes-Brocks Syndrome 2:

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

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
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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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