Townes-Brocks Syndrome 1 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Townes-Brocks Syndrome 1

MalaCards integrated aliases for Townes-Brocks Syndrome 1:

Name: Townes-Brocks Syndrome 1 ⁵⁷ ⁷³ ²⁸ ⁵

Townes-Brocks Branchiootorenal-Like Syndrome ⁵⁷ ⁷³ ¹²

Deafness, Sensorineural, with Imperforate Anus and Thumb Anomalies ⁵⁷ ⁷³

Anus, Imperforate, with Hand, Foot, and Ear Anomalies ⁵⁷ ⁷³

Townes-Brocks-Branchiootorenal-Like Syndrome ²⁸ ⁵

Renal-Ear-Anal-Radial Syndrome ⁵⁷ ⁷³

Rear Syndrome ⁵⁷ ⁷³

Tbs1 ⁵⁷ ⁷³

Characteristics:

Inheritance:

Autosomal dominant ⁵⁷

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases
Anatomical: Nephrological diseases Ear diseases Neuronal diseases Bone diseases Reproductive diseases

See all MalaCards categories (disease lists)

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Summaries for Townes-Brocks Syndrome 1

UniProtKB/Swiss-Prot: ⁷³ 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). Affiliated tissues include heart, uterus and kidney, and related phenotypes are duane anomaly and hydrocephalus

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) (Updated 08-Dec-2022)

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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

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Symptoms & Phenotypes for Townes-Brocks Syndrome 1

Human phenotypes related to Townes-Brocks Syndrome 1:

³⁰ (show top 50) (show all 57)

#	Description	HPO Frequency	HPO Source Accession
1	duane anomaly ³⁰	Occasional (7.5%)	HP:0009921
2	hydrocephalus ³⁰	Very rare (1%)	HP:0000238
3	global developmental delay ³⁰	Very rare (1%)	HP:0001263
4	microtia ³⁰	Very rare (1%)	HP:0008551
5	sensorineural hearing impairment ³⁰	Very rare (1%)	HP:0000407
6	broad thumb ³⁰	Very rare (1%)	HP:0011304
7	atrial septal defect ³⁰	Very rare (1%)	HP:0001631
8	anal atresia ³⁰	Very rare (1%)	HP:0002023
9	choanal atresia ³⁰	Very rare (1%)	HP:0000453
10	preauricular skin tag ³⁰	Very rare (1%)	HP:0000384
11	holoprosencephaly ³⁰	Very rare (1%)	HP:0001360
12	talipes ³⁰	Very rare (1%)	HP:0001883
13	tracheoesophageal fistula ³⁰	Very rare (1%)	HP:0002575
14	hypospadias ³⁰	Very rare (1%)	HP:0000047
15	renal hypoplasia ³⁰	Very rare (1%)	HP:0000089
16	ventricular septal defect ³⁰	Very rare (1%)	HP:0001629
17	preaxial hand polydactyly ³⁰	Very rare (1%)	HP:0001177
18	tethered cord ³⁰	Very rare (1%)	HP:0002144
19	rectovaginal fistula ³⁰	Very rare (1%)	HP:0000143
20	triphalangeal thumb ³⁰	Very rare (1%)	HP:0001199
21	rectoperineal fistula ³⁰	Very rare (1%)	HP:0004792
22	small for gestational age ³⁰	Very rare (1%)	HP:0001518
23	3-4 finger syndactyly ³⁰	Very rare (1%)	HP:0006097
24	lop ear ³⁰	Very rare (1%)	HP:0000394
25	4-5 toe syndactyly ³⁰	Very rare (1%)	HP:0004692
26	1-2 toe syndactyly ³⁰	Very rare (1%)	HP:0010711
27	intellectual disability ³⁰		HP:0001249
28	hypothyroidism ³⁰		HP:0000821
29	macrotia ³⁰		HP:0000400
30	umbilical hernia ³⁰		HP:0001537
31	microcephaly ³⁰		HP:0000252
32	gastroesophageal reflux ³⁰		HP:0002020
33	renal insufficiency ³⁰		HP:0000083
34	cryptorchidism ³⁰		HP:0000028
35	bifid scrotum ³⁰		HP:0000048
36	chorioretinal coloboma ³⁰		HP:0000567
37	tetralogy of fallot ³⁰		HP:0001636
38	vesicoureteral reflux ³⁰		HP:0000076
39	multicystic kidney dysplasia ³⁰		HP:0000003
40	partial duplication of thumb phalanx ³⁰		HP:0009944
41	aplasia/hypoplasia of the 3rd toe ³⁰		HP:0010331
42	urethral valve ³⁰		HP:0010481
43	preauricular pit ³⁰		HP:0004467
44	anal stenosis ³⁰		HP:0002025
45	duodenal atresia ³⁰		HP:0002247
46	short metatarsal ³⁰		HP:0010743
47	renal dysplasia ³⁰		HP:0000110
48	2-3 toe syndactyly ³⁰		HP:0004691
49	clinodactyly of the 5th toe ³⁰		HP:0001864
50	bifid uterus ³⁰		HP:0000136

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 08-Dec-2022)

Abdomen Gastrointestinal:
umbilical hernia
gastroesophageal reflux
anal stenosis
duodenal atresia
imperforate anus
more

Head And Neck Head:
microcephaly

Genitourinary Internal Genitalia Male:
cryptorchidism

Cardiovascular Heart:
tetralogy of fallot
ventricular septal defect

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
satyr ear
overfolding of superior helix
large ears
preauricular tags
more

Skeletal Hands:
broad thumb
triphalangeal thumb
preaxial polydactyly
pseudoepiphyses of second metacarpal
bifid thumb
more

Genitourinary External Genitalia Male:
bifid scrotum
hypospadias
prominent midline perineal raphe

Genitourinary Ureters:
vesicoureteral reflux

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 (Updated 08-Dec-2022)

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Drugs & Therapeutics for Townes-Brocks Syndrome 1

Search Clinical Trials, NIH Clinical Center for Townes-Brocks Syndrome 1

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Genetic Tests for Townes-Brocks Syndrome 1

Genetic tests related to Townes-Brocks Syndrome 1:

#	Genetic test	Affiliating Genes
1	Townes-Brocks Syndrome 1 ²⁸	SALL1
2	Townes-Brocks-Branchiootorenal-Like Syndrome ²⁸

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Anatomical Context for Townes-Brocks Syndrome 1

Organs/tissues related to Townes-Brocks Syndrome 1:

MalaCards : Heart, Uterus, Kidney, Skin, Cingulate Cortex, Cortex

ODiseA: Kidney

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Publications for Townes-Brocks Syndrome 1

Articles related to Townes-Brocks Syndrome 1:

(show all 43)

#	Title	Authors	PMID	Year
1	Nonsense-mediated decay and the molecular pathogenesis of mutations in SALL1 and GLI3. ⁵⁷ ⁵	Furniss D...Wilkie AO	18000979	2007
2	Wide phenotypic variations within a family with SALL1 mutations: Isolated external ear abnormalities to Goldenhar syndrome. ⁵⁷ ⁵	Kosaki R...Kosaki K	17431915	2007
3	Atypical phenotype and intrafamilial variability associated with a novel SALL1 mutation. ⁵⁷ ⁵	Albrecht B...Kohlhase J	14755477	2004
4	Unique family with Townes-Brocks syndrome, SALL1 mutation, and cardiac defects. ⁵⁷ ⁵	Surka WS...Proud VK	11484202	2001
5	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. ⁵⁷ ⁵	Keegan CE...Korf BR	11478532	2001
6	A SALL1 mutation causes a branchio-oto-renal syndrome-like phenotype. ⁵⁷ ⁵	Engels S...McGaughran J	10928856	2000
7	Mutations in the SALL1 putative transcription factor gene cause Townes-Brocks syndrome. ⁵⁷ ⁵	Kohlhase J...Engel W	9425907	1998
8	Truncated SALL1 Impedes Primary Cilia Function in Townes-Brocks Syndrome. ⁵⁷	Bozal-Basterra L...Barrio R	29395072	2018
9	Heterozygous Pathogenic Variant in DACT1 Causes an Autosomal-Dominant Syndrome with Features Overlapping Townes-Brocks Syndrome. ⁵⁷	Webb BD...Schadt EE	28054444	2017
10	Use of Targeted Exome Sequencing for Molecular Diagnosis of Skeletal Disorders. ⁵	Polla DL...Pogue R	26380986	2015
11	Phenotypic variability in a family with Townes-Brocks syndrome. ⁵⁷	Sudo Y...Hayasaka K	20520617	2010
12	Townes-Brocks syndrome: twenty novel SALL1 mutations in sporadic and familial cases and refinement of the SALL1 hot spot region. ⁵	Botzenhart EM...Kohlhase J	17221874	2007
13	SALL1 mutation analysis in Townes-Brocks syndrome: twelve novel mutations and expansion of the phenotype. ⁵⁷	Botzenhart EM...Kohlhase J	16088922	2005
14	SALL1 mutations in Townes-Brocks syndrome and related disorders. ⁵	Kohlhase J	11102974	2000
15	Townes-Brocks syndrome. ⁵⁷	Powell CM...Michaelis RC	10051003	1999
16	Two cases of Townes-Brocks syndrome. ⁵⁷	Doray B...Stoll C	10631923	1999
17	Townes-Brocks syndrome: detection of a SALL1 mutation hot spot and evidence for a position effect in one patient. ⁵	Marlin S...Petit C	10533063	1999
18	Townes-Brocks syndrome presenting as end stage renal failure. ⁵⁷	Newman WG...Donnai D	9072124	1997
19	Townes-Brocks syndrome associated with mental retardation. ⁵⁷	Ishikiriyama S...Inoue T	8669452	1996
20	Three-generation family with resemblance to Townes-Brocks syndrome and Goldenhar/oculoauriculovertebral spectrum. ⁵⁷	Johnson JP...Sherman S	8669439	1996
21	Description of a patient with difficult nosological classification: Goldenhar syndrome or Townes-Brocks syndrome? ⁵	Gabrielli O...Giorgi PL	8133838	1993
22	Townes-Brocks syndrome in an infant with translocation t (5;16). ⁵⁷	Serville F...Sergent MP	8357560	1993
23	Townes-Brocks syndrome in two mentally retarded youngsters. ⁵⁷	Cameron TH...Aylsworth AS	1951448	1991
24	The Townes-Brocks syndrome. ⁵⁷	O'Callaghan M...Young ID	2395165	1990
25	Townes-Brocks syndrome. Report of a case and review of the literature. ⁵⁷	Ferraz FG...Maroteaux P	2667456	1989
26	A new family with the Townes-Brocks syndrome. ⁵⁷	de Vries-Van der Weerd MA...ten Kate LP	3180506	1988
27	Phenotypic variability in Townes-Brocks syndrome. ⁵⁷	Monteiro de Pina-Neto J	6741990	1984
28	Syndrome of imperforate anus, abnormalities of hands and feet, satyr ears, and sensorineural deafness. ⁵⁷	Walpole IR...Hockey A	7199082	1982
29	Autosomal dominant transmission of a syndrome of anal, ear, renal, and radial congenital malformations. ⁵⁷	Kurnit DM...Dibbins A	671168	1978
30	More on anal deformities. ⁵⁷	Townes PL	830935	1977
31	Additional experience with routine use of oral kanamycin prophylaxis for necrotizing enterocolitis in infants under 1,500 grams. ⁵⁷	Egan EA...Eitzman DV	830936	1977
32	Familial and abnormality. ⁵⁷	Reid IS...Turner G	1271203	1976
33	The Holt-Oram syndrome with previously undescribed associated anomalies. ⁵⁷	Silver W...Zeichner MB	4639228	1972
34	Hereditary syndrome of imperforate anus with hand, foot, and ear anomalies. ⁵⁷	Townes PL...Brocks ER	5042490	1972
35	[CLINICAL AND PHARMACOLOGICAL FACTORS INFLUENCING RESISTANCE TO CLOPIDOGREL IN PATIENTS WITH CARDIOVASCULAR DISEASES]. ⁶²	Mesitskaia DF...Dobrovol'skii AV	26117917	2015
36	[Positive effect of low-activity thromboxane A synthase gene on prognosis in coronary heart disease]. ⁶²	Kopylov FY...Chernyi OV	26027242	2015
37	Structural and mechanistic insights into the recruitment of talin by RIAM in integrin signaling. ⁶²	Chang YC...Wu J	25465129	2014
38	Transplantation of SIRT1-engineered aged mesenchymal stem cells improves cardiac function in a rat myocardial infarction model. ⁶²	Liu X...Wang J	25034794	2014
39	Angiogenic properties of aged adipose derived mesenchymal stem cells after hypoxic conditioning. ⁶²	Efimenko A...Stolzing A	21244679	2011
40	Differential effects of long and short train theta burst stimulation on LTP induction in rat anterior cingulate cortex slices: multi-electrode array recordings. ⁶²	He Y...Chen J	19784087	2009
41	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. ⁶²	Syrjanen K...New Independent States of the Former Soviet Union Cohort Study Group	19798883	2009
42	Bond strength and degree of infiltration between acrylic resin denture liner after immersion in effervescent denture cleanser. ⁶²	Pisani MX...Paranhos HF	19178623	2009
43	Multigenic control of disease severity after virulent Mycobacterium tuberculosis infection in mice. ⁶²	Sanchez F...Lavebratt C	12496157	2003

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Genes for Townes-Brocks Syndrome 1

Genes related to Townes-Brocks Syndrome 1 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	SALL1	Spalt Like Transcription Factor 1	Protein Coding	1033.12	Molecular basis known ⁵⁷ Pathogenic ⁵ Genetic Tests ²⁸ Likely pathogenic ⁵ GeneCards inferred via : Disorders (show sections)	8133838 9425907 10533063 (more) 10928856 11102974 11478532 11484202 14755477 17221874 17431915 18000979

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Variations for Townes-Brocks Syndrome 1

ClinVar genetic disease variations for Townes-Brocks Syndrome 1:

⁵ (show top 50) (show all 63)

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	SALL1	NM_002968.3(SALL1):c.1270del (p.Gln424fs)	DEL	Pathogenic	7426	rs1597230349	GRCh37: 16:51174863-51174863 GRCh38: 16:51140952-51140952
2	SALL1	NM_002968.3(SALL1):c.1115C>A (p.Ser372Ter)	SNV	Pathogenic	7427	rs104894535	GRCh37: 16:51175018-51175018 GRCh38: 16:51141107-51141107
3	SALL1	NM_002968.3(SALL1):c.1115C>G (p.Ser372Ter)	SNV	Pathogenic	7429	rs104894535	GRCh37: 16:51175018-51175018 GRCh38: 16:51141107-51141107
4	SALL1	NM_002968.3(SALL1):c.1277_1278del (p.Arg426fs)	DEL	Pathogenic	7430	rs1597230341	GRCh37: 16:51174855-51174856 GRCh38: 16:51140944-51140945
5	SALL1	NM_002968.3(SALL1):c.1347_1348del (p.His449fs)	MICROSAT	Pathogenic	7431	rs1597230241	GRCh37: 16:51174785-51174786 GRCh38: 16:51140874-51140875
6	SALL1	NM_002968.3(SALL1):c.792_793del (p.Leu264fs)	DEL	Pathogenic	7433	rs1597230909	GRCh37: 16:51175340-51175341 GRCh38: 16:51141429-51141430
7	SALL1	NM_002968.3(SALL1):c.1256T>A (p.Leu419Ter)	SNV	Pathogenic	7435	rs137853084	GRCh37: 16:51174877-51174877 GRCh38: 16:51140966-51140966
8	SALL1	NM_002968.3(SALL1):c.995del (p.Pro332fs)	DEL	Pathogenic	7436	rs1597230687	GRCh37: 16:51175138-51175138 GRCh38: 16:51141227-51141227
9	SALL1	NM_002968.3(SALL1):c.2686_2689dup (p.Val897fs)	DUP	Pathogenic	807481	rs1597228568	GRCh37: 16:51173443-51173444 GRCh38: 16:51139532-51139533
10	SALL1	NM_002968.3(SALL1):c.1108_1109del (p.Val370fs)	DEL	Pathogenic	426114	rs1085307143	GRCh37: 16:51175024-51175025 GRCh38: 16:51141113-51141114
11	SALL1	NM_002968.3(SALL1):c.1873G>T (p.Glu625Ter)	SNV	Pathogenic	973255	rs1197587893	GRCh37: 16:51174260-51174260 GRCh38: 16:51140349-51140349
12	SALL1	NM_002968.3(SALL1):c.1365_1366insGCAG (p.Lys456fs)	INSERT	Pathogenic	983477	rs1962410902	GRCh37: 16:51174767-51174768 GRCh38: 16:51140856-51140857
13	SALL1	NM_002968.3(SALL1):c.1363_1369delinsTGAAACA (p.Ala455_Val457delinsTer)	INDEL	Pathogenic	1679359		GRCh37: 16:51174764-51174770 GRCh38: 16:51140853-51140859
14	SALL1	NM_002968.3(SALL1):c.709C>T (p.Gln237Ter)	SNV	Pathogenic	1693559		GRCh37: 16:51175424-51175424 GRCh38: 16:51141513-51141513
15	SALL1	NM_002968.3(SALL1):c.967C>T (p.Gln323Ter)	SNV	Pathogenic Pathogenic	7434	rs104894538	GRCh37: 16:51175166-51175166 GRCh38: 16:51141255-51141255
16	SALL1	NM_002968.3(SALL1):c.3414_3415del (p.Cys1139fs)	DEL	Pathogenic	418466	rs1064793257	GRCh37: 16:51172718-51172719 GRCh38: 16:51138807-51138808
17	SALL1	NM_002968.3(SALL1):c.1228G>T (p.Gly410Ter)	SNV	Pathogenic	1705680		GRCh37: 16:51174905-51174905 GRCh38: 16:51140994-51140994
18	SALL1	NM_002968.3(SALL1):c.826C>T (p.Arg276Ter)	SNV	Pathogenic	7428	rs104894537	GRCh37: 16:51175307-51175307 GRCh38: 16:51141396-51141396
19	SALL1	NM_002968.3(SALL1):c.1821del (p.Leu608fs)	DEL	Pathogenic	7432	rs1597229721	GRCh37: 16:51174312-51174312 GRCh38: 16:51140401-51140401
20	SALL1	NM_002968.3(SALL1):c.601C>T (p.Gln201Ter)	SNV	Pathogenic/Likely Pathogenic	1679304		GRCh37: 16:51175532-51175532 GRCh38: 16:51141621-51141621
21	SALL1	NM_002968.3(SALL1):c.3381del (p.Arg1128fs)	DEL	Likely Pathogenic	1333617		GRCh37: 16:51172752-51172752 GRCh38: 16:51138841-51138841
22	SALL1	NM_002968.3(SALL1):c.269dup (p.Pro91fs)	DUP	Likely Pathogenic	1048611		GRCh37: 16:51175863-51175864 GRCh38: 16:51141952-51141953
23	SALL1	NM_002968.3(SALL1):c.2287dup (p.Arg763fs)	DUP	Likely Pathogenic	830013	rs1597229151	GRCh37: 16:51173845-51173846 GRCh38: 16:51139934-51139935
24	SALL1	NM_002968.3(SALL1):c.2801del (p.Ser934fs)	DEL	Likely Pathogenic	829881	rs1597228490	GRCh37: 16:51173332-51173332 GRCh38: 16:51139421-51139421
25	SALL1	NM_002968.3(SALL1):c.2129del (p.Ile710fs)	DEL	Likely Pathogenic	1700011		GRCh37: 16:51174004-51174004 GRCh38: 16:51140093-51140093
26	SALL1	NM_002968.3(SALL1):c.448AGC[9] (p.Ser159del)	MICROSAT	Conflicting Interpretations Of Pathogenicity	195187	rs113614842	GRCh37: 16:51175656-51175658 GRCh38: 16:51141745-51141747
27	SALL1	NM_002968.3(SALL1):c.949C>T (p.Pro317Ser)	SNV	Conflicting Interpretations Of Pathogenicity	208167	rs864621971	GRCh37: 16:51175184-51175184 GRCh38: 16:51141273-51141273
28	SALL1	NM_002968.3(SALL1):c.3322G>T (p.Val1108Phe)	SNV	Uncertain Significance	1699245		GRCh37: 16:51172811-51172811 GRCh38: 16:51138900-51138900
29	SALL1	NM_002968.3(SALL1):c.477_478insAGCAGCGGC (p.Ser159_Gly160insSerSerGly)	INSERT	Uncertain Significance	523050	rs1555475415	GRCh37: 16:51175655-51175656 GRCh38: 16:51141744-51141745
30	SALL1	NM_002968.3(SALL1):c.424G>C (p.Gly142Arg)	SNV	Uncertain Significance	1184321		GRCh37: 16:51175709-51175709 GRCh38: 16:51141798-51141798
31	SALL1	NM_002968.3(SALL1):c.478GGC[5] (p.Gly163dup)	MICROSAT	Uncertain Significance	258877	rs1555475414	GRCh37: 16:51175643-51175644 GRCh38: 16:51141732-51141733
32	SALL1	NM_002968.3(SALL1):c.2278C>T (p.Pro760Ser)	SNV	Uncertain Significance	499155	rs140384285	GRCh37: 16:51173855-51173855 GRCh38: 16:51139944-51139944
33	SALL1	NM_002968.3(SALL1):c.448AGC[12] (p.Ser158_Ser159dup)	MICROSAT	Uncertain Significance	319615	rs113614842	GRCh37: 16:51175655-51175656 GRCh38: 16:51141744-51141745
34	SALL1	NM_002968.3(SALL1):c.703G>A (p.Ala235Thr)	SNV	Uncertain Significance	771794	rs761053549	GRCh37: 16:51175430-51175430 GRCh38: 16:51141519-51141519
35	SALL1	NM_002968.3(SALL1):c.3836C>T (p.Thr1279Met)	SNV	Uncertain Significance	829915	rs776104367	GRCh37: 16:51171162-51171162 GRCh38: 16:51137251-51137251
36	SALL1	NM_002968.3(SALL1):c.2050C>T (p.Gln684Ter)	SNV	Uncertain Significance	829987	rs1597229404	GRCh37: 16:51174083-51174083 GRCh38: 16:51140172-51140172
37	SALL1	NM_002968.3(SALL1):c.43G>A (p.Asp15Asn)	SNV	Uncertain Significance	319622	rs886052085	GRCh37: 16:51185110-51185110 GRCh38: 16:51151199-51151199
38	SALL1	NM_002968.3(SALL1):c.*563del	DEL	Uncertain Significance	319587	rs886052078	GRCh37: 16:51170460-51170460 GRCh38: 16:51136549-51136549
39	SALL1	NM_002968.3(SALL1):c.*920CTT[2]	MICROSAT	Uncertain Significance	319579	rs527584319	GRCh37: 16:51170095-51170097 GRCh38: 16:51136184-51136186
40	SALL1	NM_002968.3(SALL1):c.*1033dup	DUP	Uncertain Significance	319576	rs551604859	GRCh37: 16:51169989-51169990 GRCh38: 16:51136078-51136079
41	SALL1	NM_002968.3(SALL1):c.130G>A (p.Val44Ile)	SNV	Uncertain Significance	224342	rs373744120	GRCh37: 16:51176003-51176003 GRCh38: 16:51142092-51142092
42	SALL1	NM_002968.3(SALL1):c.705_706del	DEL	Uncertain Significance	319583	rs886052076	GRCh37: 16:51170317-51170318 GRCh38: 16:51136406-51136407
43	SALL1	NM_002968.3(SALL1):c.3787A>G (p.Ile1263Val)	SNV	Uncertain Significance	932004	rs1962322854	GRCh37: 16:51171211-51171211 GRCh38: 16:51137300-51137300
44	SALL1	NM_002968.3(SALL1):c.1514A>G (p.His505Arg)	SNV	Uncertain Significance	693986	rs776094507	GRCh37: 16:51174619-51174619 GRCh38: 16:51140708-51140708
45	SALL1	NM_002968.3(SALL1):c.1759C>A (p.Pro587Thr)	SNV	Uncertain Significance	1177412		GRCh37: 16:51174374-51174374 GRCh38: 16:51140463-51140463
46	SALL1	NM_002968.3(SALL1):c.3847G>A (p.Glu1283Lys)	SNV	Uncertain Significance	973876	rs1962320101	GRCh37: 16:51171151-51171151 GRCh38: 16:51137240-51137240
47	SALL1	NM_002968.3(SALL1):c.3782C>T (p.Pro1261Leu)	SNV	Uncertain Significance	982425	rs376879952	GRCh37: 16:51171216-51171216 GRCh38: 16:51137305-51137305
48	SALL1	NM_002968.3(SALL1):c.1775A>G (p.Lys592Arg)	SNV	Uncertain Significance	1679300		GRCh37: 16:51174358-51174358 GRCh38: 16:51140447-51140447
49	SALL1	NM_002968.3(SALL1):c.1778G>A (p.Ser593Asn)	SNV	Uncertain Significance	1698895		GRCh37: 16:51174355-51174355 GRCh38: 16:51140444-51140444
50	SALL1	NM_002968.3(SALL1):c.721A>G (p.Ile241Val)	SNV	Uncertain Significance	1684274		GRCh37: 16:51175412-51175412 GRCh38: 16:51141501-51141501

Sources

Expression for Townes-Brocks Syndrome 1

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

Sources

Pathways for Townes-Brocks Syndrome 1

Sources

GO Terms for Townes-Brocks Syndrome 1

Sources

Sources for Townes-Brocks Syndrome 1

¹ BitterDB

² CDC

³ Cell Signaling Technology

⁴ ClinicalTrials

⁵ ClinVar

⁶ CNVD

⁷ Cochrane Library

⁸ Cosmic

⁹ dbSNP

¹⁰ DGIdb

¹¹ Disease Ontology

¹² diseasecard

¹³ DiseaseEnhancer

¹⁴ DISEASES

¹⁵ DrugBank

¹⁶ EFO

¹⁷ ExPASy

¹⁸ FMA

¹⁹ GARD

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ GenomeRNAi

²⁶ GEO DataSets

²⁷ GO

²⁸ GTR

²⁹ HMDB

³⁰ HPO

³¹ ICD10

³² ICD10 via Orphanet

³³ ICD11

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ LifeMap

³⁷ LncRNADisease

³⁸ LOVD

³⁹ MalaCards

⁴⁰ MedGen

⁴¹ MedlinePlus

⁴² MedlinePlus Genetics

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NINDS

⁵³ Novoseek

⁵⁴ Novus Biologicals

⁵⁵ ODiseA

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 08-Dec-2022)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubChem

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ WikiPathways

⁷⁵ Wikipedia

TBS1 MCID: TWN011 MIFTS: 35	Townes-Brocks Syndrome 1 (TBS1) Categories: Bone diseases, Ear diseases, Fetal diseases, Genetic diseases, Nephrological diseases, Neuronal diseases, Rare diseases, Reproductive diseases	Data Licensing For inquiries, contact: [email protected]
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Expand all tables

Townes-Brocks Syndrome 1 (TBS1)

Aliases & Classifications for Townes-Brocks Syndrome 1

MalaCards integrated aliases for Townes-Brocks Syndrome 1:

Characteristics:

Inheritance:

Classifications:

External Ids:

Summaries for Townes-Brocks Syndrome 1

Related Diseases for Townes-Brocks Syndrome 1

Diseases in the Townes-Brocks Syndrome family:

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

Symptoms & Phenotypes for Townes-Brocks Syndrome 1

Human phenotypes related to Townes-Brocks Syndrome 1:

Symptoms via clinical synopsis from OMIM®:

Clinical features from OMIM®:

Drugs & Therapeutics for Townes-Brocks Syndrome 1

Genetic Tests for Townes-Brocks Syndrome 1

Genetic tests related to Townes-Brocks Syndrome 1:

Anatomical Context for Townes-Brocks Syndrome 1

Organs/tissues related to Townes-Brocks Syndrome 1:

Publications for Townes-Brocks Syndrome 1

Articles related to Townes-Brocks Syndrome 1:

Genes for Townes-Brocks Syndrome 1

Genes related to Townes-Brocks Syndrome 1 (1 elite genes):

Variations for Townes-Brocks Syndrome 1

ClinVar genetic disease variations for Townes-Brocks Syndrome 1:

Expression for Townes-Brocks Syndrome 1

Pathways for Townes-Brocks Syndrome 1

GO Terms for Townes-Brocks Syndrome 1

Sources for Townes-Brocks Syndrome 1