Disease browser and phenotype portal

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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Hearing Loss Disease Portal

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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes

Disease Browser
Parent Node: Abnormalities, Multiple (D000015)
Parent Node: Anus, Imperforate (D001006)
Parent Node: Hearing Loss, Sensorineural (D006319)
..Starting node ..Townes-Brocks syndrome (C536974)
Child Nodes:
Sister Nodes:
..Acrootoocular Syndrome (C564866)
..Albinism ocular late onset sensorineural deafness (C537043)
..Arthrogryposis-like hand anomaly and sensorineural deafness (C535386)
..Ataxia, Deafness, and Cardiomyopathy (C565932)
..Athabaskan brainstem dysgenesis (C535397)
..Atherosclerosis, Premature, with Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, and Degenerative Neurologic Disease (C565928)
..Auditory Neuropathy, Nonsyndromic Recessive (C563398)
..Axenfeld-Rieger anomaly with cardiac defects and sensorineural hearing loss (C537789)
..Axenfeld-Rieger Anomaly with Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, and Skeletal Abnormalities (C566234)
..BADS Syndrome (C562663)
..Barakat syndrome (C537907)
..Bartter Syndrome, Type 4A (C566530)
..Bartter Syndrome, Type 4b (C567762)
..Bjornstad syndrome (C537633)
..Boudhina Yedes Khiari syndrome (C537939)
..Brachydactyly, Intraventricular Septal Defect, And Deafness (C566521)
..Brown-Vialetto-Van Laere syndrome (C537111)
..CAPOS syndrome (C535351)
..Cardiomyopathy, Dilated, 1J (C565337)
..Cataract ataxia deafness (C538283)
..Cataracts, Congenital, with Sensorineural Deafness, Down Syndrome-Like Facial Appearance, Short Stature, and Mental Retardation (C563390)
..Cerebellar Ataxia and Hypergonadotropic Hypogonadism (C565308)
..Cerebellar Ataxia and Neurosensory Deafness (C565869)
..Cerebellar Ataxia, Deafness, and Narcolepsy (C565825)
..Charcot-Marie-Tooth disease and deafness (C538078)
..Charcot-Marie-Tooth disease, Type 2J (C535417)
..Chitty Hall Baraitser syndrome (C535928)
..Chudley-Mccullough syndrome (C535459)
..Cleft palate, midfacial hypoplasia, triangular facies, and sensorineural hearing loss (C536427)
..Cochleosaccular degeneration of the inner ear and progressive cataracts (C536432)
..Coloboma, cleft lip/palate and mental retardation syndrome (C535971)
..Congenital ectodermal dysplasia with hearing loss (C535757)
..Corneal dystrophy and perceptive deafness (C535473)
..Cowchock syndrome (C536450)
..Craniofacial deafness hand syndrome (C536453)
..Cutis Verticis Gyrata, Retinitis Pigmentosa, and Sensorineural Deafness (C565306)
..Deafness enamel hypoplasia nail defects (C535994)
..Deafness oligodontia syndrome (C538049)
..Deafness, Aminoglycoside-Induced (C564013)
..Deafness, Autosomal Dominant 1 (C565121)
..Deafness, Autosomal Dominant 10 (C563354)
..Deafness, Autosomal Dominant 11 (C563353)
..Deafness, Autosomal Dominant 12 (C563295)
..Deafness, Autosomal Dominant 13 (C566612)
..Deafness, Autosomal Dominant 15 (C566545)
..Deafness, Autosomal Dominant 16 (C565832)
..Deafness, Autosomal Dominant 18 (C565267)
..Deafness, Autosomal Dominant 20 (C565754)
..Deafness, Autosomal Dominant 21 (C564634)
..Deafness, Autosomal Dominant 23 (C565357)
..Deafness, Autosomal Dominant 24 (C565239)
..Deafness, Autosomal Dominant 25 (C565319)
..Deafness, Autosomal Dominant 28 (C563890)
..Deafness, Autosomal Dominant 2A (C567441)
..Deafness, Autosomal Dominant 2B (C567214)
..Deafness, Autosomal Dominant 30 (C564706)
..Deafness, Autosomal Dominant 31 (C563888)
..Deafness, Autosomal Dominant 36 (C564675)
..Deafness, Autosomal Dominant 39, with Dentinogenesis Imperfecta 1 (C565316)
..Deafness, Autosomal Dominant 3A (C567277)
..Deafness, Autosomal Dominant 3B (C567215)
..Deafness, Autosomal Dominant 4 (C563460)
..Deafness, Autosomal Dominant 41 (C564272)
..Deafness, Autosomal Dominant 43 (C564246)
..Deafness, Autosomal Dominant 44 (C564399)
..Deafness, Autosomal Dominant 47 (C563885)
..Deafness, Autosomal Dominant 48 (C564322)
..Deafness, Autosomal Dominant 49 (C564250)
..Deafness, Autosomal Dominant 5 (C563410)
..Deafness, Autosomal Dominant 52 (C564348)
..Deafness, Autosomal Dominant 53 (C566495)
..Deafness, Autosomal Dominant 59 (C567216)
..Deafness, Autosomal Dominant 6 (C563421)
..Deafness, Autosomal Dominant 7 (C563321)
..Deafness, Autosomal Dominant 9 (C563335)
..Deafness, autosomal dominant nonsyndromic sensorineural 17 (C538050)
..Deafness, autosomal dominant nonsyndromic sensorineural 22 (C538197)
..Deafness, autosomal dominant nonsyndromic sensorineural 23 (C538198)
..Deafness, autosomal dominant nonsyndromic sensorineural 24 (C538199)
..Deafness, Autosomal Recessive (C564609)
..Deafness, Autosomal Recessive 10 (C565341) 1
..Deafness, Autosomal Recessive 12 (C563327)
..Deafness, Autosomal Recessive 13 (C566410)
..Deafness, Autosomal Recessive 14 (C566344)
..Deafness, Autosomal Recessive 15 (C566611)
..Deafness, Autosomal Recessive 16 (C566339)
..Deafness, Autosomal Recessive 17 (C566418)
..Deafness, Autosomal Recessive 18 (C566580) 1
..Deafness, Autosomal Recessive 1A (C567134)
..Deafness, Autosomal Recessive 1b (C567213)
..Deafness, Autosomal Recessive 2 (C564007)
..Deafness, Autosomal Recessive 20 (C565828)
..Deafness, Autosomal Recessive 21 (C566353)
..Deafness, Autosomal Recessive 22 (C564633)
..Deafness, Autosomal Recessive 23 (C563705)
..Deafness, Autosomal Recessive 26 (C565329)
..Deafness, Autosomal Recessive 27 (C565287)
..Deafness, Autosomal Recessive 28 (C565218)
..Deafness, Autosomal Recessive 3 (C563961)
..Deafness, Autosomal Recessive 30 (C564624)
..Deafness, Autosomal Recessive 31 (C564629)
..Deafness, Autosomal Recessive 32 (C563884)
..Deafness, Autosomal Recessive 33 (C564602)
..Deafness, Autosomal Recessive 35 (C563908)
..Deafness, Autosomal Recessive 36 (C563815)
..Deafness, Autosomal Recessive 37 (C564331)
..Deafness, Autosomal Recessive 38 (C564273)
..Deafness, Autosomal Recessive 39 (C564265)
..Deafness, Autosomal Recessive 40 (C564266)
..Deafness, Autosomal Recessive 42 (C566460)
..Deafness, Autosomal Recessive 44 (C565716)
..Deafness, Autosomal Recessive 46 (C566459)
..Deafness, Autosomal Recessive 47 (C566498)
..Deafness, Autosomal Recessive 48 (C563720)
..Deafness, Autosomal Recessive 49 (C565717)
..Deafness, Autosomal Recessive 5 (C563444)
..Deafness, Autosomal Recessive 53 (C566453)
..Deafness, Autosomal Recessive 59 (C565698)
..Deafness, Autosomal Recessive 6 (C563418)
..Deafness, Autosomal Recessive 62 (C565719)
..Deafness, Autosomal Recessive 63 (C566951)
..Deafness, Autosomal Recessive 65 (C565211)
..Deafness, Autosomal Recessive 66 (C565701)
..Deafness, Autosomal Recessive 67 (C565207)
..Deafness, Autosomal Recessive 68 (C563669)
..Deafness, Autosomal Recessive 7 (C563417)
..Deafness, Autosomal Recessive 71 (C567562)
..Deafness, Autosomal Recessive 77 (C567543)
..Deafness, Autosomal Recessive 79 (C567651)
..Deafness, Autosomal Recessive 9 (C563396)
..Deafness, Autosomal Recessive, 24 (C567027)
..Deafness, Childhood-Onset Neurosensory, Autosomal Recessive 8 (C563395) 1
..Deafness, Congenital, with Inner Ear Agenesis, Microtia, and Microdontia (C565195)
..Deafness, Congenital, with Total Albinism (C565646)
..Deafness, High-Frequency Sensorineural, X-Linked (C564432)
..Deafness, Mid-Tone Neural (C565122)
..Deafness, Progressive High-Tone Neural (C562423)
..Deafness, Sensorineural, And Male Infertility (C567010)
..Deafness, Sensorineural, Autosomal-Mitochondrial Type (C565637)
..Deafness, Sensorineural, with Hypertrophic Cardiomyopathy (C565236)
..Deafness, Sensorineural, with Peripheral Neuropathy and Arterial Disease (C565120)
..Deafness, X-Linked 1 (C564433)
..Deafness, X-Linked 3 (C564727)
..Deafness, X-Linked 4 (C564723)
..Deafness, X-Linked 5 (C564472)
..Digitorenocerebral Syndrome (C563052)
..Donnai-Barrow syndrome (C536390)
..Ectodermal Dysplasia and Neurosensory Deafness (C565606)
..Ectodermal dysplasia, sensorineural hearing loss, and distinctive facial features (C536182)
..Enlarged Vestibular Aqueduct (C566366)
..Ermine phenotype (C535508)
..Fitzsimmons Walson Mellor syndrome (C537937)
..Flynn Aird syndrome (C537066)
..Friedreich Ataxia, So-Called, with Optic Atrophy and Sensorineural Deafness (C564999)
..Gemignani syndrome (C537678)
..Gonadal dysgenesis XX type deafness (C537286) 1
..Griscelli syndrome type 1 (C537301)
..Hearing Loss, Central (D006313) 16
..Hearing Loss, Noise-Induced (D006317)
..HID Syndrome (C566528)
..Histiocytosis with joint contractures and sensorineural deafness (C538322)
..Hittner Hirsch Kreh syndrome (C538323)
..Homozygous 11p15-p14 Deletion Syndrome (C564701)
..Insulin-Like Growth Factor I Deficiency (C563867)
..Johanson Blizzard syndrome (C535880)
..Keratoderma palmoplantar deafness (C536152)
..Knuckle pads, leuconychia and sensorineural deafness (C537210)
..Lipodystrophy, Generalized, with Mental Retardation, Deafness, Short Stature, and Slender Bones (C564283)
..Macrothrombocytopenia progressive deafness (C537831)
..Marshall syndrome (C536025)
..Martin-Probst Deafness-Mental Retardation Syndrome (C564495)
..MYH9-Related Disorders (C535507)
..Nephropathy deafness hyperparathyroidism (C536401)
..Nephropathy with Pretibial Epidermolysis Bullosa and Deafness (C563798)
..Nephropathy, Progressive, with Deafness (C563713)
..Neuroendocrine Carcinoma of Salivary Glands, Sensorineural Hearing Loss, and Enamel Hypoplasia (C566352)
..Nonsyndromic sensorineural hearing loss (C537845)
..Optic atrophy 1 and deafness (C537124)
..Optic Atrophy, Deafness, Ophthalmoplegia, and Myopathy (C565117)
..Otodental Dysplasia (C563482)
..Otofacioosseous-Gonadal Syndrome (C566597)
..OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA (OMIM:215150)
..Paragangliomas with Sensorineural Hearing Loss (C566831)
..Pendred syndrome (C536648)
..Pfeiffer Kapferer syndrome (C537887)
..Presbycusis (D011304) 2
..Progressive hearing loss stapes fixation (C536424)
..Prune Belly Syndrome with Pulmonic Stenosis, Mental Retardation, and Deafness (C562894)
..Renal Tubular Acidosis, Distal, Autosomal Recessive, with Late-Onset Sensorineural Hearing Loss (C566428)
..Renal Tubular Acidosis, Distal, with Progressive Nerve Deafness (C562897)
..Retinitis Pigmentosa Inversa with Deafness (C564842)
..Robinson Miller Bensimon syndrome (C535864)
..Rod-Cone Dystrophy, Sensorineural Deafness, and Fanconi-Type Renal Dysfunction (C564829)
..Schaap Taylor Baraitser syndrome (C536626)
..Sensorineural Deafness With Mild Renal Dysfunction (C567544)
..Sensorineural Hearing Loss, Retinal Pigment Epithelium Lesions, Discolored Teeth (C566560)
..SeSAME syndrome (C557674)
..Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, And Progressive Nephropathy (C566682)
..Split-Hand/Foot Malformation With Sensorineural Hearing Loss (C565647)
..Spondyloepiphyseal Dysplasia, Myopia, And Sensorineural Deafness (C566659)
..Stickler Syndrome, Autosomal Recessive, COL9A1-Related (C565177)
..Stickler syndrome, type 1 (C537492)
..Thiamine responsive megaloblastic anemia syndrome (C536510)
..Townes-Brocks syndrome (C536974)
..Townes-Brocks-Branchiootorenal-Like Syndrome (C566272)
..Treft Sanborn Carey syndrome (C536544)
..Tunglang Savage Bellman syndrome (C536927)
..Usher Syndromes (D052245) 19
..Vohwinkel syndrome (C536457)
..Winkelman Bethge Pfeiffer syndrome (C536710)
..Wolfram Syndrome 2 (C565733)
..Wolfram Syndrome, Mitochondrial Form (C564012)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

11171

Name:

Townes-Brocks syndrome

Definition:

Alternative IDs:

OMIM:107480

ParentIDs:

MESH:D000015|MESH:D001006|MESH:D006319

TreeNumbers:

C06.198.050/C536974 |C09.218.458.341.887/C536974 |C10.597.751.418.341.887/C536974 |C16.131.077/C536974 |C16.131.314.094/C536974 |C23.888.592.763.393.341.887/C536974

Synonyms:

Anal-Ear-Renal-Radial Malformation Syndrome |Anus, Imperforate, with Hand, Foot, and Ear Anomalies |Deafness-Imperforate Anus-Hypoplastic Thumbs Syndrome |Deafness, sensorineural, with imperforate anus and hypoplastic thumbs |Deafness, Sensorineural, With Im

Slim Mappings:

Congenital abnormality|Digestive system disease|Ear-nose-throat disease|Nervous system disease|Signs and symptoms

Reference:

MedGen: C536974
MeSH: C536974
OMIM: 107480;

Genes: SALL1;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0004691	2-3 toe syndactyly
3	HP:0010709	2-4 finger syndactyly
4	HP:0006097	3-4 finger syndactyly
5	HP:0009779	3-4 toe syndactyly
6	HP:0002023	Anal atresia	HP:0040284
7	HP:0002025	Anal stenosis
8	HP:0010331	Aplasia/Hypoplasia of the 3rd toe
9	HP:0000048	Bifid scrotum
10	HP:0000136	Bifid uterus
11	HP:0011304	Broad thumb
12	HP:0000567	Chorioretinal coloboma
13	HP:0001864	Clinodactyly of the 5th toe
14	HP:0000028	Cryptorchidism
15	HP:0009921	Duane anomaly	HP:0040283
16	HP:0002247	Duodenal atresia
17	HP:0002020	Gastroesophageal reflux
18	HP:0001263	Global developmental delay	HP:0040284
19	HP:0000047	Hypospadias	HP:0040284
20	HP:0000821	Hypothyroidism
21	HP:0000400	Macrotia
22	HP:0001440	Metatarsal synostosis
23	HP:0000252	Microcephaly
24	HP:0008551	Microtia
25	HP:0000003	Multicystic kidney dysplasia
26	HP:0004453	Overfolding of the superior helices
27	HP:0009944	Partial duplication of thumb phalanx
28	HP:0004467	Preauricular pit
29	HP:0000384	Preauricular skin tag
30	HP:0001177	Preaxial hand polydactyly
31	HP:0006179	Pseudoepiphyses of second metacarpal
32	HP:0004792	Rectoperineal fistula
33	HP:0000143	Rectovaginal fistula
34	HP:0000110	Renal dysplasia
35	HP:0000089	Renal hypoplasia
36	HP:0000083	Renal insufficiency
37	HP:0030676	Satyr ear
38	HP:0000407	Sensorineural hearing impairment	HP:0040284
39	HP:0010743	Short metatarsal
40	HP:0100015	Stahl ear
41	HP:0001636	Tetralogy of Fallot
42	HP:0001199	Triphalangeal thumb	HP:0040284
43	HP:0001537	Umbilical hernia
44	HP:0010481	Urethral valve
45	HP:0001629	Ventricular septal defect	HP:0040284
46	HP:0000076	Vesicoureteral reflux

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_c	HGVS_p	HGVS_g	OtherIDs	Disease_ClinVar
NM_002968.2(SALL1):c.3160C>T (p.Arg1054Ter)	6299	SALL1	Pathogenic	864321635	RCV000203506;	N	MedGen:C0265246,OMIM:107480,ORPHA:857,SNOMED CT:24750000	16	51172973	51172973	NM_002968.2:c.3160C>T	NP_002959.2:p.Arg1054Ter	NC_000016.9:g.51172973G>A	-	C0265246 107480 Townes syndrome
NM_002968.2(SALL1):c.1256T>A (p.Leu419Ter)	6299	SALL1	Pathogenic	137853084	RCV000007860;	N	MedGen:C0265246,OMIM:107480,ORPHA:857,SNOMED CT:24750000	16	51174877	51174877	NM_002968.2:c.1256T>A	NP_002959.2:p.Leu419Ter	NC_000016.9:g.51174877A>T	OMIM Allelic Variant:602218.0010	C0265246 107480 Townes syndrome
NM_002968.2(SALL1):c.1115C>A (p.Ser372Ter)	6299	SALL1	Pathogenic	104894535	RCV000007852;	N	MedGen:C0265246,OMIM:107480,ORPHA:857,SNOMED CT:24750000	16	51175018	51175018	NM_002968.2:c.1115C>A	NP_002959.2:p.Ser372Ter	NC_000016.9:g.51175018G>C,NC_000016.9:g.51175018G>T	OMIM Allelic Variant:602218.0002	C0265246 107480 Townes syndrome
NM_002968.2(SALL1):c.1115C>G (p.Ser372Ter)	6299	SALL1	Pathogenic	104894535	RCV000007854;	N	MedGen:C0265246,OMIM:107480,ORPHA:857,SNOMED CT:24750000	16	51175018	51175018	NM_002968.2:c.1115C>G	NP_002959.2:p.Ser372Ter	NC_000016.9:g.51175018G>C,NC_000016.9:g.51175018G>T	OMIM Allelic Variant:602218.0004	C0265246 107480 Townes syndrome
NM_002968.2(SALL1):c.949C>T (p.Pro317Ser)	6299	SALL1	Pathogenic	864621971	RCV000205374;	N	MedGen:C0265246,OMIM:107480,ORPHA:857,SNOMED CT:24750000	16	51175184	51175184	NM_002968.2:c.949C>T	NP_002959.2:p.Pro317Ser	NC_000016.9:g.51175184G>A	-	C0265246 107480 Townes syndrome
NM_002968.2(SALL1):c.826C>T (p.Arg276Ter)	6299	SALL1	Pathogenic	104894537	RCV000007853;	N	MedGen:C0265246,OMIM:107480,ORPHA:857,SNOMED CT:24750000	16	51175307	51175307	NM_002968.2:c.826C>T	NP_002959.2:p.Arg276Ter	NC_000016.9:g.51175307G>A	OMIM Allelic Variant:602218.0003	C0265246 107480 Townes syndrome