TBS1
MCID: TWN011
MIFTS: 28

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 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 Testosterone enanthate and Testosterone have been mentioned in the context of this disorder. Affiliated tissues include heart, kidney and bone, 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 11.8

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

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

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 bifid uterus 32 HP:0000136
37 metatarsal synostosis 32 HP:0001440
38 clinodactyly of the 5th toe 32 HP:0001864
39 duane anomaly 32 occasional (7.5%) HP:0009921
40 overfolding of the superior helices 32 HP:0004453
41 3-4 finger syndactyly 32 HP:0006097
42 satyr ear 32 HP:0030676
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
Testosterone enanthate Approved Phase 3,Phase 2 315-37-7 9416
2
Testosterone Approved, Investigational Phase 3,Phase 2 58-22-0 6013
3
Methyltestosterone Approved Phase 3,Phase 2 58-18-4 6010
4
Testosterone undecanoate Approved, Investigational Phase 3,Phase 2 5949-44-0
5 Testosterone 17 beta-cypionate Phase 3,Phase 2
6 Hormones Phase 3,Phase 2
7 Androgens Phase 3,Phase 2
8 Hormone Antagonists Phase 3,Phase 2
9 Antineoplastic Agents, Hormonal Phase 3,Phase 2
10 Anabolic Agents Phase 3,Phase 2
11 Hormones, Hormone Substitutes, and Hormone Antagonists 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 29 SALL1

Anatomical Context for Townes-Brocks Syndrome 1

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

41
Heart, Kidney, Bone, Skin, 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 NM_002968.2(SALL1): c.949C> T (p.Pro317Ser) single nucleotide variant Pathogenic rs864621971 GRCh38 Chromosome 16, 51141273: 51141273
2 SALL1 NM_002968.2(SALL1): c.949C> T (p.Pro317Ser) single nucleotide variant Pathogenic rs864621971 GRCh37 Chromosome 16, 51175184: 51175184
3 SALL1 NM_001127892.1(SALL1): c.3581A> G (p.Asn1194Ser) single nucleotide variant Benign/Likely benign rs74499562 GRCh37 Chromosome 16, 51171126: 51171126
4 SALL1 NM_001127892.1(SALL1): c.3581A> G (p.Asn1194Ser) single nucleotide variant Benign/Likely benign rs74499562 GRCh38 Chromosome 16, 51137215: 51137215
5 SALL1 NM_001127892.1(SALL1): c.1587G> C (p.Glu529Asp) single nucleotide variant Benign/Likely benign rs80248061 GRCh37 Chromosome 16, 51174255: 51174255
6 SALL1 NM_001127892.1(SALL1): c.1587G> C (p.Glu529Asp) single nucleotide variant Benign/Likely benign rs80248061 GRCh38 Chromosome 16, 51140344: 51140344
7 SALL1 NM_002968.2(SALL1): c.351C> T (p.Asn117=) single nucleotide variant Uncertain significance rs145806303 GRCh37 Chromosome 16, 51175782: 51175782
8 SALL1 NM_002968.2(SALL1): c.351C> T (p.Asn117=) single nucleotide variant Uncertain significance rs145806303 GRCh38 Chromosome 16, 51141871: 51141871
9 SALL1 NM_002968.2(SALL1): c.477_478insAGCAGCGGC (p.Ser159_Gly160insSerSerGly) insertion Uncertain significance GRCh37 Chromosome 16, 51175655: 51175656
10 SALL1 NM_002968.2(SALL1): c.477_478insAGCAGCGGC (p.Ser159_Gly160insSerSerGly) insertion Uncertain significance GRCh38 Chromosome 16, 51141744: 51141745
11 SALL1 NM_002968.2(SALL1): c.*563delT deletion Uncertain significance rs886052078 GRCh37 Chromosome 16, 51170460: 51170460
12 SALL1 NM_002968.2(SALL1): c.2008T> C (p.Phe670Leu) single nucleotide variant Likely benign rs565545750 GRCh37 Chromosome 16, 51174125: 51174125
13 SALL1 NM_002968.2(SALL1): c.2008T> C (p.Phe670Leu) single nucleotide variant Likely benign rs565545750 GRCh38 Chromosome 16, 51140214: 51140214
14 SALL1 NM_002968.2(SALL1): c.3424A> G (p.Thr1142Ala) single nucleotide variant Uncertain significance rs886052083 GRCh37 Chromosome 16, 51172709: 51172709
15 SALL1 NM_002968.2(SALL1): c.3424A> G (p.Thr1142Ala) single nucleotide variant Uncertain significance rs886052083 GRCh38 Chromosome 16, 51138798: 51138798
16 SALL1 NM_002968.2(SALL1): c.3711T> C (p.Tyr1237=) single nucleotide variant Likely benign rs3743768 GRCh37 Chromosome 16, 51171287: 51171287
17 SALL1 NM_002968.2(SALL1): c.3711T> C (p.Tyr1237=) single nucleotide variant Likely benign rs3743768 GRCh38 Chromosome 16, 51137376: 51137376
18 SALL1 NM_002968.2(SALL1): c.3768G> A (p.Gln1256=) single nucleotide variant Uncertain significance rs886052081 GRCh37 Chromosome 16, 51171230: 51171230
19 SALL1 NM_002968.2(SALL1): c.3768G> A (p.Gln1256=) single nucleotide variant Uncertain significance rs886052081 GRCh38 Chromosome 16, 51137319: 51137319
20 SALL1 NM_002968.2(SALL1): c.3929G> A (p.Arg1310His) single nucleotide variant Uncertain significance rs372873373 GRCh37 Chromosome 16, 51171069: 51171069
21 SALL1 NM_002968.2(SALL1): c.3929G> A (p.Arg1310His) single nucleotide variant Uncertain significance rs372873373 GRCh38 Chromosome 16, 51137158: 51137158
22 SALL1 NM_002968.2(SALL1): c.*88_*92delGCCCC deletion Likely benign rs374006676 GRCh37 Chromosome 16, 51170931: 51170935
23 SALL1 NM_002968.2(SALL1): c.*88_*92delGCCCC deletion Likely benign rs374006676 GRCh38 Chromosome 16, 51137020: 51137024
24 SALL1 NM_002968.2(SALL1): c.3794G> A (p.Gly1265Glu) single nucleotide variant Likely benign rs149302006 GRCh38 Chromosome 16, 51137293: 51137293
25 SALL1 NM_002968.2(SALL1): c.3794G> A (p.Gly1265Glu) single nucleotide variant Likely benign rs149302006 GRCh37 Chromosome 16, 51171204: 51171204
26 SALL1 NM_002968.2(SALL1): c.235G> C (p.Ala79Pro) single nucleotide variant Benign rs536108231 GRCh38 Chromosome 16, 51141987: 51141987
27 SALL1 NM_002968.2(SALL1): c.235G> C (p.Ala79Pro) single nucleotide variant Benign rs536108231 GRCh37 Chromosome 16, 51175898: 51175898
28 SALL1 NM_002968.2(SALL1): c.129C> T (p.His43=) single nucleotide variant Likely benign rs368688611 GRCh37 Chromosome 16, 51176004: 51176004
29 SALL1 NM_002968.2(SALL1): c.129C> T (p.His43=) single nucleotide variant Likely benign rs368688611 GRCh38 Chromosome 16, 51142093: 51142093
30 SALL1 NM_002968.2(SALL1): c.379G> C (p.Val127Leu) single nucleotide variant Benign/Likely benign rs138635817 GRCh37 Chromosome 16, 51175754: 51175754
31 SALL1 NM_002968.2(SALL1): c.379G> C (p.Val127Leu) single nucleotide variant Benign/Likely benign rs138635817 GRCh38 Chromosome 16, 51141843: 51141843
32 SALL1 NM_002968.2(SALL1): c.390G> A (p.Pro130=) single nucleotide variant Benign/Likely benign rs75156807 GRCh37 Chromosome 16, 51175743: 51175743
33 SALL1 NM_002968.2(SALL1): c.390G> A (p.Pro130=) single nucleotide variant Benign/Likely benign rs75156807 GRCh38 Chromosome 16, 51141832: 51141832
34 SALL1 NM_002968.2(SALL1): c.472A> G (p.Ser158Gly) single nucleotide variant Benign/Likely benign rs139646526 GRCh37 Chromosome 16, 51175661: 51175661
35 SALL1 NM_002968.2(SALL1): c.472A> G (p.Ser158Gly) single nucleotide variant Benign/Likely benign rs139646526 GRCh38 Chromosome 16, 51141750: 51141750
36 SALL1 NM_002968.2(SALL1): c.475A> G (p.Ser159Gly) single nucleotide variant Benign rs13336129 GRCh37 Chromosome 16, 51175658: 51175658
37 SALL1 NM_002968.2(SALL1): c.475A> G (p.Ser159Gly) single nucleotide variant Benign rs13336129 GRCh38 Chromosome 16, 51141747: 51141747
38 SALL1 NM_002968.2(SALL1): c.475_477dupAGC (p.Ser159_Gly160insSer) duplication Benign/Likely benign rs113614842 GRCh37 Chromosome 16, 51175656: 51175658
39 SALL1 NM_002968.2(SALL1): c.475_477dupAGC (p.Ser159_Gly160insSer) duplication Benign/Likely benign rs113614842 GRCh38 Chromosome 16, 51141745: 51141747
40 SALL1 NM_002968.2(SALL1): c.478G> A (p.Gly160Ser) single nucleotide variant Benign/Likely benign rs199760974 GRCh38 Chromosome 16, 51141744: 51141744
41 SALL1 NM_002968.2(SALL1): c.478G> A (p.Gly160Ser) single nucleotide variant Benign/Likely benign rs199760974 GRCh37 Chromosome 16, 51175655: 51175655
42 SALL1 NM_002968.2(SALL1): c.487_489dupGGC (p.Gly163_Ser164insGly) duplication Conflicting interpretations of pathogenicity rs779674923 GRCh37 Chromosome 16, 51175644: 51175646
43 SALL1 NM_002968.2(SALL1): c.487_489dupGGC (p.Gly163_Ser164insGly) duplication Conflicting interpretations of pathogenicity rs779674923 GRCh38 Chromosome 16, 51141733: 51141735
44 SALL1 NM_002968.2(SALL1): c.1904C> T (p.Pro635Leu) single nucleotide variant Likely benign rs146454164 GRCh38 Chromosome 16, 51140318: 51140318
45 SALL1 NM_002968.2(SALL1): c.1904C> T (p.Pro635Leu) single nucleotide variant Likely benign rs146454164 GRCh37 Chromosome 16, 51174229: 51174229
46 SALL1 NM_002968.2(SALL1): c.2178G> A (p.Arg726=) single nucleotide variant Benign/Likely benign rs144019351 GRCh37 Chromosome 16, 51173955: 51173955
47 SALL1 NM_002968.2(SALL1): c.2178G> A (p.Arg726=) single nucleotide variant Benign/Likely benign rs144019351 GRCh38 Chromosome 16, 51140044: 51140044
48 SALL1 NM_002968.2(SALL1): c.2310C> T (p.Ile770=) single nucleotide variant Benign rs61740811 GRCh37 Chromosome 16, 51173823: 51173823
49 SALL1 NM_002968.2(SALL1): c.2310C> T (p.Ile770=) single nucleotide variant Benign rs61740811 GRCh38 Chromosome 16, 51139912: 51139912
50 SALL1 NM_002968.2(SALL1): c.2343G> C (p.Leu781=) single nucleotide variant Benign rs60270998 GRCh37 Chromosome 16, 51173790: 51173790

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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