TBS1
MCID: TWN011
MIFTS: 34

Townes-Brocks Syndrome 1 (TBS1)

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

Aliases & Classifications for Townes-Brocks Syndrome 1

MalaCards integrated aliases for Townes-Brocks Syndrome 1:

Name: Townes-Brocks Syndrome 1 58 76 30 6
Townes-Brocks Branchiootorenal-Like Syndrome 58 76 13
Deafness, Sensorineural, with Imperforate Anus and Thumb Anomalies 58 76
Anus, Imperforate, with Hand, Foot, and Ear Anomalies 58 76
Renal-Ear-Anal-Radial Syndrome 58 76
Rear Syndrome 58 76
Tbs1 58 76
Townes-Brocks-Branchiootorenal-Like Syndrome 6
Syndrome, Townes-Brocks, Type 1 41

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant


HPO:

33
townes-brocks syndrome 1:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Townes-Brocks Syndrome 1

UniProtKB/Swiss-Prot : 76 Townes-Brocks syndrome 1: 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 1, also known as townes-brocks branchiootorenal-like syndrome, is related to townes-brocks syndrome. An important gene associated with Townes-Brocks Syndrome 1 is SALL1 (Spalt Like Transcription Factor 1). The drugs Testosterone undecanoate and Methyltestosterone have been mentioned in the context of this disorder. Affiliated tissues include kidney, uterus and skin, and related phenotypes are duane anomaly and global developmental delay

OMIM : 58 Townes-Brocks syndrome-1 (TBS1) is 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 (Webb et al., 2017). (107480)

Related Diseases for Townes-Brocks Syndrome 1

Diseases in the Townes-Brocks Syndrome family:

Townes-Brocks Syndrome 1 Townes-Brocks Syndrome 2

Diseases related to Townes-Brocks Syndrome 1 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 townes-brocks syndrome 11.9

Symptoms & Phenotypes for Townes-Brocks Syndrome 1

Human phenotypes related to Townes-Brocks Syndrome 1:

33 (show all 45)
# Description HPO Frequency HPO Source Accession
1 duane anomaly 33 occasional (7.5%) HP:0009921
2 global developmental delay 33 very rare (1%) HP:0001263
3 sensorineural hearing impairment 33 very rare (1%) HP:0000407
4 hypospadias 33 very rare (1%) HP:0000047
5 anal atresia 33 very rare (1%) HP:0002023
6 ventricular septal defect 33 very rare (1%) HP:0001629
7 triphalangeal thumb 33 very rare (1%) HP:0001199
8 hypothyroidism 33 HP:0000821
9 macrotia 33 HP:0000400
10 umbilical hernia 33 HP:0001537
11 microtia 33 HP:0008551
12 microcephaly 33 HP:0000252
13 broad thumb 33 HP:0011304
14 gastroesophageal reflux 33 HP:0002020
15 renal insufficiency 33 HP:0000083
16 cryptorchidism 33 HP:0000028
17 chorioretinal coloboma 33 HP:0000567
18 multicystic kidney dysplasia 33 HP:0000003
19 vesicoureteral reflux 33 HP:0000076
20 tetralogy of fallot 33 HP:0001636
21 renal hypoplasia 33 HP:0000089
22 preauricular skin tag 33 HP:0000384
23 bifid scrotum 33 HP:0000048
24 rectovaginal fistula 33 HP:0000143
25 preaxial hand polydactyly 33 HP:0001177
26 rectoperineal fistula 33 HP:0004792
27 partial duplication of thumb phalanx 33 HP:0009944
28 aplasia/hypoplasia of the 3rd toe 33 HP:0010331
29 urethral valve 33 HP:0010481
30 preauricular pit 33 HP:0004467
31 anal stenosis 33 HP:0002025
32 duodenal atresia 33 HP:0002247
33 2-3 toe syndactyly 33 HP:0004691
34 renal dysplasia 33 HP:0000110
35 short metatarsal 33 HP:0010743
36 3-4 toe syndactyly 33 HP:0009779
37 bifid uterus 33 HP:0000136
38 3-4 finger syndactyly 33 HP:0006097
39 metatarsal synostosis 33 HP:0001440
40 clinodactyly of the 5th toe 33 HP:0001864
41 overfolding of the superior helices 33 HP:0004453
42 satyr ear 33 HP:0030676
43 pseudoepiphyses of second metacarpal 33 HP:0006179
44 2-4 finger syndactyly 33 HP:0010709
45 stahl ear 33 HP:0100015

Symptoms via clinical synopsis from OMIM:

58
Abdomen Gastrointestinal:
umbilical hernia
gastroesophageal reflux
anal stenosis
duodenal atresia
imperforate anus
more
Head And Neck Head:
microcephaly

Genitourinary Internal Genitalia Male:
cryptorchidism

Genitourinary Ureters:
vesicoureteral reflux

Genitourinary Internal Genitalia Female:
rectovaginal fistula
bifid uterus
vaginal aplasia

Genitourinary Kidneys:
renal failure
hypoplastic kidneys
multicystic kidneys
dysplastic kidneys

Genitourinary Bladder:
urethral valves

Endocrine Features:
hypothyroidism (rare)

Head And Neck Ears:
microtia
overfolding of superior helix
large ears
preauricular tags
preauricular pits
more
Skeletal Hands:
broad thumb
triphalangeal thumb
preaxial polydactyly
bifid thumb
pseudoepiphyses of second metacarpal
more
Genitourinary External Genitalia Male:
hypospadias
bifid scrotum
prominent midline perineal raphe

Cardiovascular Heart:
tetralogy of fallot
ventricular septal defect

Skeletal Feet:
3-4 toe syndactyly
short metatarsals
fusion of metatarsals
absent/hypoplastic third toe
fifth toe clinodactyly

Head And Neck Eyes:
chorioretinal coloboma (rare)
duane anomaly (rare)

Neurologic Central Nervous System:
mental retardation (rarely noted)

Clinical features from OMIM:

107480

Drugs & Therapeutics for Townes-Brocks Syndrome 1

Drugs for Townes-Brocks Syndrome 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

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

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Safety and Efficacy of Intranasal TBS-1 Treatment of Male Hypogonadism Completed NCT01446042 Phase 3 Testosterone;Testosterone
2 Efficacy of an Intranasal Testosterone Product Completed NCT01252745 Phase 2 10.0 mg of Testosterone, 4.0% TID;13.5 mg of Testosterone, 4.5% B.I.D;11.25 mg of Testosterone, 4.5% T.I.D
3 Efficacy and Tolerability of an Intra-Nasal Testosterone Product Completed NCT00975650 Phase 2 Nasobol®;Androderm® (Positive Control)

Search NIH Clinical Center for Townes-Brocks Syndrome 1

Genetic Tests for Townes-Brocks Syndrome 1

Genetic tests related to Townes-Brocks Syndrome 1:

# Genetic test Affiliating Genes
1 Townes-Brocks Syndrome 1 30 SALL1

Anatomical Context for Townes-Brocks Syndrome 1

MalaCards organs/tissues related to Townes-Brocks Syndrome 1:

42
Kidney, Uterus, Skin

Publications for Townes-Brocks Syndrome 1

Articles related to Townes-Brocks Syndrome 1:

# Title Authors Year
1
Nonsense-mediated decay and the molecular pathogenesis of mutations in SALL1 and GLI3. ( 18000979 )
2007
2
Wide phenotypic variations within a family with SALL1 mutations: Isolated external ear abnormalities to Goldenhar syndrome. ( 17431915 )
2007
3
Atypical phenotype and intrafamilial variability associated with a novel SALL1 mutation. ( 14755477 )
2004
4
Townes-Brocks syndrome versus expanded spectrum hemifacial microsomia: review of eight patients and further evidence of a "hot spot" for mutation in the SALL1 gene. ( 11478532 )
2001
5
Unique family with Townes-Brocks syndrome, SALL1 mutation, and cardiac defects. ( 11484202 )
2001
6
A SALL1 mutation causes a branchio-oto-renal syndrome-like phenotype. ( 10928856 )
2000
7
SALL1 mutations in Townes-Brocks syndrome and related disorders. ( 11102974 )
2000
8
Townes-Brocks syndrome: detection of a SALL1 mutation hot spot and evidence for a position effect in one patient. ( 10533063 )
1999
9
Mutations in the SALL1 putative transcription factor gene cause Townes-Brocks syndrome. ( 9425907 )
1998
10
Description of a patient with difficult nosological classification: Goldenhar syndrome or Townes-Brocks syndrome? ( 8133838 )
1993

Variations for Townes-Brocks Syndrome 1

ClinVar genetic disease variations for Townes-Brocks Syndrome 1:

6 (show top 50) (show all 175)
# Gene Variation Type Significance SNP ID Assembly Location
1 SALL1 NM_002968.2(SALL1): c.1115C> A (p.Ser372Ter) single nucleotide variant Pathogenic rs104894535 GRCh38 Chromosome 16, 51141107: 51141107
2 SALL1 NM_002968.2(SALL1): c.826C> T (p.Arg276Ter) single nucleotide variant Pathogenic rs104894537 GRCh37 Chromosome 16, 51175307: 51175307
3 SALL1 NM_002968.2(SALL1): c.826C> T (p.Arg276Ter) single nucleotide variant Pathogenic rs104894537 GRCh38 Chromosome 16, 51141396: 51141396
4 SALL1 NM_002968.2(SALL1): c.1115C> G (p.Ser372Ter) single nucleotide variant Pathogenic rs104894535 GRCh37 Chromosome 16, 51175018: 51175018
5 SALL1 NM_002968.2(SALL1): c.1115C> G (p.Ser372Ter) single nucleotide variant Pathogenic rs104894535 GRCh38 Chromosome 16, 51141107: 51141107
6 SALL1 SALL1, 2-BP DEL, NT1277 deletion Pathogenic
7 SALL1 SALL1, 2-BP DEL, 1347CA deletion Pathogenic
8 SALL1 SALL1, 1-BP DEL, 1819G deletion Pathogenic
9 SALL1 SALL1, 2-BP DEL, 792GC deletion Pathogenic
10 SALL1 NM_002968.2(SALL1): c.967C> T (p.Gln323Ter) single nucleotide variant Pathogenic rs104894538 GRCh37 Chromosome 16, 51175166: 51175166
11 SALL1 NM_002968.2(SALL1): c.967C> T (p.Gln323Ter) single nucleotide variant Pathogenic rs104894538 GRCh38 Chromosome 16, 51141255: 51141255
12 SALL1 NM_002968.2(SALL1): c.1256T> A (p.Leu419Ter) single nucleotide variant Pathogenic rs137853084 GRCh37 Chromosome 16, 51174877: 51174877
13 SALL1 NM_002968.2(SALL1): c.1256T> A (p.Leu419Ter) single nucleotide variant Pathogenic rs137853084 GRCh38 Chromosome 16, 51140966: 51140966
14 SALL1 SALL1, 1-BP DEL, 995C deletion Pathogenic
15 SALL1 SALL1, 2-BP DEL, 3414AT deletion Pathogenic
16 SALL1 NM_001127892.1(SALL1): c.3581A> G (p.Asn1194Ser) single nucleotide variant Benign/Likely benign rs74499562 GRCh37 Chromosome 16, 51171126: 51171126
17 SALL1 NM_001127892.1(SALL1): c.3581A> G (p.Asn1194Ser) single nucleotide variant Benign/Likely benign rs74499562 GRCh38 Chromosome 16, 51137215: 51137215
18 SALL1 NM_001127892.1(SALL1): c.1587G> C (p.Glu529Asp) single nucleotide variant Benign/Likely benign rs80248061 GRCh37 Chromosome 16, 51174255: 51174255
19 SALL1 NM_001127892.1(SALL1): c.1587G> C (p.Glu529Asp) single nucleotide variant Benign/Likely benign rs80248061 GRCh38 Chromosome 16, 51140344: 51140344
20 SALL1 NM_002968.2(SALL1): c.*705_*706delAA deletion Uncertain significance rs886052076 GRCh37 Chromosome 16, 51170317: 51170318
21 SALL1 NM_002968.2(SALL1): c.*705_*706delAA deletion Uncertain significance rs886052076 GRCh38 Chromosome 16, 51136406: 51136407
22 SALL1 NM_002968.2(SALL1): c.*558A> G single nucleotide variant Uncertain significance rs886052079 GRCh38 Chromosome 16, 51136554: 51136554
23 SALL1 NM_002968.2(SALL1): c.*558A> G single nucleotide variant Uncertain significance rs886052079 GRCh37 Chromosome 16, 51170465: 51170465
24 SALL1 NM_002968.2(SALL1): c.*437C> A single nucleotide variant Likely benign rs371127619 GRCh38 Chromosome 16, 51136675: 51136675
25 SALL1 NM_002968.2(SALL1): c.*437C> A single nucleotide variant Likely benign rs371127619 GRCh37 Chromosome 16, 51170586: 51170586
26 SALL1 NM_002968.2(SALL1): c.*125C> T single nucleotide variant Uncertain significance rs886052080 GRCh38 Chromosome 16, 51136987: 51136987
27 SALL1 NM_002968.2(SALL1): c.*125C> T single nucleotide variant Uncertain significance rs886052080 GRCh37 Chromosome 16, 51170898: 51170898
28 SALL1 NM_002968.2(SALL1): c.3947A> C (p.Glu1316Ala) single nucleotide variant Uncertain significance rs375212546 GRCh38 Chromosome 16, 51137140: 51137140
29 SALL1 NM_002968.2(SALL1): c.3947A> C (p.Glu1316Ala) single nucleotide variant Uncertain significance rs375212546 GRCh37 Chromosome 16, 51171051: 51171051
30 SALL1 NM_002968.2(SALL1): c.3942C> T (p.Phe1314=) single nucleotide variant Likely benign rs189411650 GRCh38 Chromosome 16, 51137145: 51137145
31 SALL1 NM_002968.2(SALL1): c.3942C> T (p.Phe1314=) single nucleotide variant Likely benign rs189411650 GRCh37 Chromosome 16, 51171056: 51171056
32 SALL1 NM_002968.2(SALL1): c.1502A> G (p.Glu501Gly) single nucleotide variant Uncertain significance rs749792542 GRCh38 Chromosome 16, 51140720: 51140720
33 SALL1 NM_002968.2(SALL1): c.1502A> G (p.Glu501Gly) single nucleotide variant Uncertain significance rs749792542 GRCh37 Chromosome 16, 51174631: 51174631
34 SALL1 NM_002968.2(SALL1): c.1321A> G (p.Thr441Ala) single nucleotide variant Uncertain significance rs886052084 GRCh38 Chromosome 16, 51140901: 51140901
35 SALL1 NM_002968.2(SALL1): c.1321A> G (p.Thr441Ala) single nucleotide variant Uncertain significance rs886052084 GRCh37 Chromosome 16, 51174812: 51174812
36 SALL1 NM_002968.2(SALL1): c.676G> A (p.Val226Ile) single nucleotide variant Likely benign rs149603480 GRCh38 Chromosome 16, 51141546: 51141546
37 SALL1 NM_002968.2(SALL1): c.676G> A (p.Val226Ile) single nucleotide variant Likely benign rs149603480 GRCh37 Chromosome 16, 51175457: 51175457
38 SALL1 NM_002968.2(SALL1): c.389C> T (p.Pro130Leu) single nucleotide variant Likely benign rs576713482 GRCh37 Chromosome 16, 51175744: 51175744
39 SALL1 NM_002968.2(SALL1): c.389C> T (p.Pro130Leu) single nucleotide variant Likely benign rs576713482 GRCh38 Chromosome 16, 51141833: 51141833
40 SALL1 NM_002968.2(SALL1): c.220G> A (p.Val74Ile) single nucleotide variant Likely benign rs529479120 GRCh37 Chromosome 16, 51175913: 51175913
41 SALL1 NM_002968.2(SALL1): c.220G> A (p.Val74Ile) single nucleotide variant Likely benign rs529479120 GRCh38 Chromosome 16, 51142002: 51142002
42 SALL1 NM_002968.2(SALL1): c.76+10C> G single nucleotide variant Likely benign rs758439424 GRCh37 Chromosome 16, 51185067: 51185067
43 SALL1 NM_002968.2(SALL1): c.76+10C> G single nucleotide variant Likely benign rs758439424 GRCh38 Chromosome 16, 51151156: 51151156
44 SALL1 NM_002968.2(SALL1): c.44A> C (p.Asp15Ala) single nucleotide variant Uncertain significance rs77265655 GRCh37 Chromosome 16, 51185109: 51185109
45 SALL1 NM_002968.2(SALL1): c.44A> C (p.Asp15Ala) single nucleotide variant Uncertain significance rs77265655 GRCh38 Chromosome 16, 51151198: 51151198
46 SALL1 NM_002968.2(SALL1): c.477_478insAGCAGCGGC (p.Ser159_Gly160insSerSerGly) insertion Uncertain significance rs1555475415 GRCh38 Chromosome 16, 51141744: 51141745
47 SALL1 NM_002968.2(SALL1): c.477_478insAGCAGCGGC (p.Ser159_Gly160insSerSerGly) insertion Uncertain significance rs1555475415 GRCh37 Chromosome 16, 51175655: 51175656
48 SALL1 NM_002968.2(SALL1): c.1108_1109delGT (p.Val370Leufs) deletion Pathogenic rs1085307143 GRCh38 Chromosome 16, 51141113: 51141114
49 SALL1 NM_002968.2(SALL1): c.1108_1109delGT (p.Val370Leufs) deletion Pathogenic rs1085307143 GRCh37 Chromosome 16, 51175024: 51175025
50 SALL1 NM_002968.2(SALL1): c.43G> A (p.Asp15Asn) single nucleotide variant Uncertain significance rs886052085 GRCh38 Chromosome 16, 51151199: 51151199

Expression for Townes-Brocks Syndrome 1

Search GEO for disease gene expression data for Townes-Brocks Syndrome 1.

Pathways for Townes-Brocks Syndrome 1

GO Terms for Townes-Brocks Syndrome 1

Sources for Townes-Brocks Syndrome 1

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