TBS1
MCID: TWN011
MIFTS: 32

Townes-Brocks Syndrome 1 (TBS1)

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

Aliases & Classifications for Townes-Brocks Syndrome 1

MalaCards integrated aliases for Townes-Brocks Syndrome 1:

Name: Townes-Brocks Syndrome 1 57 75 29 6
Townes-Brocks Branchiootorenal-Like Syndrome 57 75 13
Deafness, Sensorineural, with Imperforate Anus and Thumb Anomalies 57 75
Anus, Imperforate, with Hand, Foot, and Ear Anomalies 57 75
Renal-Ear-Anal-Radial Syndrome 57 75
Rear Syndrome 57 75
Tbs1 57 75
Townes-Brocks-Branchiootorenal-Like Syndrome 6
Syndrome, Townes-Brocks, Type 1 40

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
townes-brocks syndrome 1:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Townes-Brocks Syndrome 1

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

OMIM : 57 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 11.7

Symptoms & Phenotypes for Townes-Brocks Syndrome 1

Symptoms via clinical synopsis from OMIM:

57
Abdomen Gastrointestinal:
umbilical hernia
gastroesophageal reflux
anal stenosis
duodenal atresia
imperforate anus
more
Head And Neck Head:
microcephaly

GenitourinaryInternal GenitaliaMale:
cryptorchidism

Genitourinary Ureters:
vesicoureteral reflux

Genitourinary Internal Genitalia Female:
rectovaginal fistula
vaginal aplasia
bifid uterus

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

Human phenotypes related to Townes-Brocks Syndrome 1:

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

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
Methyltestosterone Approved Phase 3,Phase 2 58-18-4 6010
2
Testosterone Approved, Investigational Phase 3,Phase 2 58-22-0 6013
3
Testosterone enanthate Approved Phase 3,Phase 2 315-37-7 9416
4
Testosterone undecanoate Approved, Investigational Phase 3,Phase 2 5949-44-0
5 Anabolic Agents Phase 3,Phase 2
6 Androgens Phase 3,Phase 2
7 Antineoplastic Agents, Hormonal Phase 3,Phase 2
8 Hormone Antagonists Phase 3,Phase 2
9 Hormones Phase 3,Phase 2
10 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 3,Phase 2
11 Testosterone 17 beta-cypionate 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® (Intra-nasal Testosterone);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 29 SALL1

Anatomical Context for Townes-Brocks Syndrome 1

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

41
Heart, Kidney, Skin, Bone, Uterus

Publications for Townes-Brocks Syndrome 1

Variations for Townes-Brocks Syndrome 1

ClinVar genetic disease variations for Townes-Brocks Syndrome 1:

6
(show top 50) (show all 177)
# Gene Variation Type Significance SNP ID Assembly Location
1 SALL1 SALL1, 1-BP DEL, 1268C deletion Pathogenic
2 SALL1 NM_002968.2(SALL1): c.1115C> A (p.Ser372Ter) single nucleotide variant Pathogenic rs104894535 GRCh37 Chromosome 16, 51175018: 51175018
3 SALL1 NM_002968.2(SALL1): c.1115C> A (p.Ser372Ter) single nucleotide variant Pathogenic rs104894535 GRCh38 Chromosome 16, 51141107: 51141107
4 SALL1 NM_002968.2(SALL1): c.826C> T (p.Arg276Ter) single nucleotide variant Pathogenic rs104894537 GRCh37 Chromosome 16, 51175307: 51175307
5 SALL1 NM_002968.2(SALL1): c.826C> T (p.Arg276Ter) single nucleotide variant Pathogenic rs104894537 GRCh38 Chromosome 16, 51141396: 51141396
6 SALL1 NM_002968.2(SALL1): c.1115C> G (p.Ser372Ter) single nucleotide variant Pathogenic rs104894535 GRCh37 Chromosome 16, 51175018: 51175018
7 SALL1 NM_002968.2(SALL1): c.1115C> G (p.Ser372Ter) single nucleotide variant Pathogenic rs104894535 GRCh38 Chromosome 16, 51141107: 51141107
8 SALL1 SALL1, 2-BP DEL, NT1277 deletion Pathogenic
9 SALL1 SALL1, 2-BP DEL, 1347CA deletion Pathogenic
10 SALL1 SALL1, 1-BP DEL, 1819G deletion Pathogenic
11 SALL1 SALL1, 2-BP DEL, 792GC deletion Pathogenic
12 SALL1 NM_002968.2(SALL1): c.967C> T (p.Gln323Ter) single nucleotide variant Pathogenic rs104894538 GRCh37 Chromosome 16, 51175166: 51175166
13 SALL1 NM_002968.2(SALL1): c.967C> T (p.Gln323Ter) single nucleotide variant Pathogenic rs104894538 GRCh38 Chromosome 16, 51141255: 51141255
14 SALL1 NM_002968.2(SALL1): c.1256T> A (p.Leu419Ter) single nucleotide variant Pathogenic rs137853084 GRCh37 Chromosome 16, 51174877: 51174877
15 SALL1 NM_002968.2(SALL1): c.1256T> A (p.Leu419Ter) single nucleotide variant Pathogenic rs137853084 GRCh38 Chromosome 16, 51140966: 51140966
16 SALL1 SALL1, 1-BP DEL, 995C deletion Pathogenic
17 SALL1 SALL1, 2-BP DEL, 3414AT deletion Pathogenic
18 SALL1 NM_002968.2(SALL1): c.475_477delAGC (p.Ser159del) deletion Conflicting interpretations of pathogenicity rs769634214 GRCh37 Chromosome 16, 51175656: 51175658
19 SALL1 NM_002968.2(SALL1): c.475_477delAGC (p.Ser159del) deletion Conflicting interpretations of pathogenicity rs769634214 GRCh38 Chromosome 16, 51141745: 51141747
20 SALL1 NM_002968.2(SALL1): c.3120A> G (p.Thr1040=) single nucleotide variant Likely benign rs146655918 GRCh37 Chromosome 16, 51173013: 51173013
21 SALL1 NM_002968.2(SALL1): c.3120A> G (p.Thr1040=) single nucleotide variant Likely benign rs146655918 GRCh38 Chromosome 16, 51139102: 51139102
22 SALL1 NM_002968.2(SALL1): c.949C> T (p.Pro317Ser) single nucleotide variant Pathogenic rs864621971 GRCh38 Chromosome 16, 51141273: 51141273
23 SALL1 NM_002968.2(SALL1): c.949C> T (p.Pro317Ser) single nucleotide variant Pathogenic rs864621971 GRCh37 Chromosome 16, 51175184: 51175184
24 SALL1 NM_001127892.1(SALL1): c.3581A> G (p.Asn1194Ser) single nucleotide variant Benign/Likely benign rs74499562 GRCh37 Chromosome 16, 51171126: 51171126
25 SALL1 NM_001127892.1(SALL1): c.3581A> G (p.Asn1194Ser) single nucleotide variant Benign/Likely benign rs74499562 GRCh38 Chromosome 16, 51137215: 51137215
26 SALL1 NM_001127892.1(SALL1): c.1587G> C (p.Glu529Asp) single nucleotide variant Benign/Likely benign rs80248061 GRCh37 Chromosome 16, 51174255: 51174255
27 SALL1 NM_001127892.1(SALL1): c.1587G> C (p.Glu529Asp) single nucleotide variant Benign/Likely benign rs80248061 GRCh38 Chromosome 16, 51140344: 51140344
28 SALL1 NM_002968.2(SALL1): c.3160C> T (p.Arg1054Ter) single nucleotide variant Uncertain significance rs864321635 GRCh37 Chromosome 16, 51172973: 51172973
29 SALL1 NM_002968.2(SALL1): c.3160C> T (p.Arg1054Ter) single nucleotide variant Uncertain significance rs864321635 GRCh38 Chromosome 16, 51139062: 51139062
30 SALL1 NM_002968.2(SALL1): c.469_477delAGCAGCAGC (p.Ser157_Ser159del) deletion Conflicting interpretations of pathogenicity rs772465423 GRCh37 Chromosome 16, 51175656: 51175664
31 SALL1 NM_002968.2(SALL1): c.469_477delAGCAGCAGC (p.Ser157_Ser159del) deletion Conflicting interpretations of pathogenicity rs772465423 GRCh38 Chromosome 16, 51141745: 51141753
32 SALL1 NM_002968.2(SALL1): c.130G> A (p.Val44Ile) single nucleotide variant Uncertain significance rs373744120 GRCh37 Chromosome 16, 51176003: 51176003
33 SALL1 NM_002968.2(SALL1): c.130G> A (p.Val44Ile) single nucleotide variant Uncertain significance rs373744120 GRCh38 Chromosome 16, 51142092: 51142092
34 SALL1 NM_002968.2(SALL1): c.3823G> A (p.Val1275Ile) single nucleotide variant Benign rs4614723 GRCh37 Chromosome 16, 51171175: 51171175
35 SALL1 NM_002968.2(SALL1): c.3823G> A (p.Val1275Ile) single nucleotide variant Benign rs4614723 GRCh38 Chromosome 16, 51137264: 51137264
36 SALL1 NM_002968.2(SALL1): c.3456C> T (p.His1152=) single nucleotide variant Benign rs11645288 GRCh38 Chromosome 16, 51138766: 51138766
37 SALL1 NM_002968.2(SALL1): c.3456C> T (p.His1152=) single nucleotide variant Benign rs11645288 GRCh37 Chromosome 16, 51172677: 51172677
38 SALL1 NM_002968.2(SALL1): c.2574C> T (p.Leu858=) single nucleotide variant Benign rs1965024 GRCh37 Chromosome 16, 51173559: 51173559
39 SALL1 NM_002968.2(SALL1): c.2574C> T (p.Leu858=) single nucleotide variant Benign rs1965024 GRCh38 Chromosome 16, 51139648: 51139648
40 SALL1 NM_002968.2(SALL1): c.2544A> G (p.Gln848=) single nucleotide variant Benign/Likely benign rs45459896 GRCh37 Chromosome 16, 51173589: 51173589
41 SALL1 NM_002968.2(SALL1): c.2544A> G (p.Gln848=) single nucleotide variant Benign/Likely benign rs45459896 GRCh38 Chromosome 16, 51139678: 51139678
42 SALL1 NM_002968.2(SALL1): c.2343G> C (p.Leu781=) single nucleotide variant Benign rs60270998 GRCh38 Chromosome 16, 51139879: 51139879
43 SALL1 NM_002968.2(SALL1): c.2343G> C (p.Leu781=) single nucleotide variant Benign rs60270998 GRCh37 Chromosome 16, 51173790: 51173790
44 SALL1 NM_002968.2(SALL1): c.2310C> T (p.Ile770=) single nucleotide variant Benign rs61740811 GRCh38 Chromosome 16, 51139912: 51139912
45 SALL1 NM_002968.2(SALL1): c.2310C> T (p.Ile770=) single nucleotide variant Benign rs61740811 GRCh37 Chromosome 16, 51173823: 51173823
46 SALL1 NM_002968.2(SALL1): c.2178G> A (p.Arg726=) single nucleotide variant Benign/Likely benign rs144019351 GRCh38 Chromosome 16, 51140044: 51140044
47 SALL1 NM_002968.2(SALL1): c.2178G> A (p.Arg726=) single nucleotide variant Benign/Likely benign rs144019351 GRCh37 Chromosome 16, 51173955: 51173955
48 SALL1 NM_002968.2(SALL1): c.1904C> T (p.Pro635Leu) single nucleotide variant Likely benign rs146454164 GRCh37 Chromosome 16, 51174229: 51174229
49 SALL1 NM_002968.2(SALL1): c.1904C> T (p.Pro635Leu) single nucleotide variant Likely benign rs146454164 GRCh38 Chromosome 16, 51140318: 51140318
50 SALL1 NM_002968.2(SALL1): c.487_489dupGGC (p.Gly163_Ser164insGly) duplication Conflicting interpretations of pathogenicity rs779674923 GRCh38 Chromosome 16, 51141733: 51141735

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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