MCID: TWN010
MIFTS: 15

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 54 71
Tbs2 71

Characteristics:

OMIM:

54
Miscellaneous:
thumb abnormalities were not observed in this family
based on report of 1 family

Inheritance:
autosomal dominant


Classifications:



External Ids:

OMIM 54 617466
MedGen 40 CN243870
MeSH 42 D000015

Summaries for Townes-Brocks Syndrome 2

UniProtKB/Swiss-Prot : 71 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 and uterus.

Description from OMIM: 617466

Related Diseases for Townes-Brocks Syndrome 2

Diseases in the Townes-Brocks Syndrome family:

Townes-Brocks Syndrome 2 Townes-Brocks Syndrome 1

Symptoms & Phenotypes for Townes-Brocks Syndrome 2

Symptoms via clinical synopsis from OMIM:

54

Skeletal- Spine:
spina bifida occulta
scoliosis

Genitourinary- Kidneys:
crossed fused renal ectopia

Genitourinary- External Genitalia Male:
hypospadias

Head And Neck- Ears:
cupped ears
overfolded helices
unilateral microtia

Genitourinary- Bladder:
reflux

Genitourinary- Internal Genitalia Female:
bifid uterus

Abdomen- Gastroin testinal:
rectovaginal fistula
imperforate anus


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

Anatomical Context for Townes-Brocks Syndrome 2

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

39
Heart, Uterus

Publications for Townes-Brocks Syndrome 2

Variations for Townes-Brocks Syndrome 2

ClinVar genetic disease variations for Townes-Brocks Syndrome 2:

6
id 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

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
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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