| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 20 (4.0%) |
23894113 (5094807) |
Endocrine abnormalities in Townes-Brocks syndrome. Lawrence C, Hong-McAtee I, Hall B, Hartsfield J, Rutherford A, Bonilla T, Bay C. Am J Med Genet A. 2013;161A(9):2266-73. |
| Hypothyroidism | ||
| GH1 | ||
| c|DEL|3414_3415|AT | ||
| Anus, Imperforate Child, Preschool Facies Females Genetic Association Studies Genotype Growth Charts Homo sapiens Magnetic Resonance Imaging Male Mutation Phenotype Pituitary Gland | ||
| 20 (4.0%) |
20003547 (2806267) |
Association of a de novo 16q copy number variant with a phenotype that overlaps with Lenz microphthalmia and Townes-Brocks syndromes. Bardakjian TM, Schneider AS, Ng D, Johnston JJ, Biesecker LG. BMC Med Genet. 2009;10:137. |
| Chordee | ||
| SALL1 | ||
| Anus, Imperforate Chromosomes, Human, Pair 16 DNA Copy Number Variations External Ear Gene Deletion Genetic Association Studies Genetic Predisposition to Disease Homo sapiens Infant, Newborn Male Microphthalmos Oligonucleotide Array Sequence Analysis Phenotype Syndrome | ||
| 20 (4.0%) |
19737635 |
Obstructive apneas and severe dysphagia in a girl with Townes-Brocks syndrome and atypical feet involvement. van Bever Y, Gischler SJ, Hoeve HL, Smit LS, Nauta J, Dooijes D. Eur J Med Genet. 2009;52(6):426-9. |
| Dysphagia | ||
| SALL1 | ||
| p|SUB|R|276|X;RS#:104894537 | ||
| Apnea Congenital Foot Deformity Deglutition Disorders Females Homo sapiens Infant, Newborn Syndrome | ||
| 20 (4.0%) |
19005989 |
The association of an epibulbar dermoid and Duane syndrome in a patient with a SALL1 mutation (Townes-Brocks Syndrome). Barry JS, Reddy MA. Ophthalmic Genet. 2008;29(4):177-80. |
| Cataract | ||
| SALL1 SALL4 | ||
| c|SUB|C|826|T;RS#:104894537 | ||
| Anus, Imperforate Congenital Hand Deformities Congenital Hypothyroidism Dermoid Cyst Duane Retraction Syndrome Eyelid Neoplasms Homo sapiens Infant Male Mutation Syndrome Zinc Fingers | ||
| 20 (4.0%) |
17351307 |
Townes-Brocks syndrome with hypothyroidism. Goswami V, Dubey NK. Indian Pediatr. 2007;44(2):140-2. |
| Hypothyroidism | ||
| Anus, Imperforate Child, Preschool External Ear Females Homo sapiens Hypothyroidism Kidney Syndrome | ||
| 20 (4.0%) |
11074491 |
Usefulness and limitations of FISH to characterize partially cryptic complex chromosome rearrangements. Kaiser-Rogers KA, Rao KW, Michaelis RC, Lese CM, Powell CM. Am J Med Genet. 2000;95(1):28-35. |
| Obesity | ||
| Anus, Imperforate Child Chromosome Aberrations Chromosome Banding Developmental Disabilities Females Fluorescent in Situ Hybridization Homo sapiens Infant Male Sensitivity and Specificity Syndrome | ||
| 20 (4.0%) |
7696681 |
Auditory dysfunction in selected syndromes and patterns of malformations: review and case findings. Hall JW 3rd, Prentice CH, Smiley G, Werkhaven J. J Am Acad Audiol. 1995;6(1):80-92. |
| Hearing impairment | ||
| Acoustic Evoked Brain Stem Potentials Adult Audiometry Child, Preschool Females Homo sapiens Infant Male Syndrome | ||
| 20 (4.0%) |
6741990 |
Phenotypic variability in Townes-Brocks syndrome. Monteiro de Pina-Neto J. Am J Med Genet. 1984;18(1):147-52. |
| Rectovaginal fistula | ||
| Anus, Imperforate Atrial Septal Defects Deafness Females Homo sapiens Infant Phenotype Rectovaginal Fistula Syndrome | ||
| 20 (4.0%) |
3943255 |
Townes syndrome. A distinct multiple malformation syndrome resembling VACTERL association. Hersh JH, Jaworski M, Solinger RE, Weisskopf B, Donat J. Clin Pediatr (Phila). 1986;25(2):100-2. |
| Hypospadias | ||
| Anus, Imperforate Child Congenital Hand Deformities Differential Diagnosis Homo sapiens Hypospadias Male Syndrome |
Total: 66
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000143 | Rectovaginal fistula | Very frequent (99-80%) |
| HP:0000384 | Preauricular skin tag | Very frequent (99-80%) |
| HP:0001177 | Preaxial hand polydactyly | Very frequent (99-80%) |
| HP:0001199 | Triphalangeal thumb | Very frequent (99-80%) |
| HP:0002023 | Anal atresia | Very frequent (99-80%) |
| HP:0004792 | Rectoperineal fistula | Very frequent (99-80%) |
| HP:0008572 | External ear malformation | Very frequent (99-80%) |
| HP:0000028 | Cryptorchidism | Frequent (79-30%) |
| HP:0000083 | Renal insufficiency | Frequent (79-30%) |
| HP:0000365 | Hearing impairment | Frequent (79-30%) |
| HP:0000396 | Overfolded helix | Frequent (79-30%) |
| HP:0001482 | Subcutaneous nodule | Frequent (79-30%) |
| HP:0001545 | Anteriorly placed anus | Frequent (79-30%) |
| HP:0001760 | Abnormality of the foot | Frequent (79-30%) |
| HP:0001763 | Pes planus | Frequent (79-30%) |
| HP:0001863 | Toe clinodactyly | Frequent (79-30%) |
| HP:0002019 | Constipation | Frequent (79-30%) |
| HP:0004209 | Clinodactyly of the 5th finger | Frequent (79-30%) |
| HP:0008551 | Microtia | Frequent (79-30%) |
| HP:0000047 | Hypospadias | Occasional (29-5%) |
| HP:0000048 | Bifid scrotum | Occasional (29-5%) |
| HP:0000076 | Vesicoureteral reflux | Occasional (29-5%) |
| HP:0000077 | Abnormality of the kidney | Occasional (29-5%) |
| HP:0000086 | Ectopic kidney | Occasional (29-5%) |
| HP:0000089 | Renal hypoplasia | Occasional (29-5%) |
| HP:0000130 | Abnormality of the uterus | Occasional (29-5%) |
| HP:0000142 | Abnormal vagina morphology | Occasional (29-5%) |
| HP:0000154 | Wide mouth | Occasional (29-5%) |
| HP:0000324 | Facial asymmetry | Occasional (29-5%) |
| HP:0000486 | Strabismus | Occasional (29-5%) |
| HP:0000504 | Abnormality of vision | Occasional (29-5%) |
| HP:0000518 | Cataract | Occasional (29-5%) |
| HP:0000567 | Chorioretinal coloboma | Occasional (29-5%) |
| HP:0000568 | Microphthalmia | Occasional (29-5%) |
| HP:0000581 | Blepharophimosis | Occasional (29-5%) |
| HP:0000612 | Iris coloboma | Occasional (29-5%) |
| HP:0000772 | Abnormality of the ribs | Occasional (29-5%) |
| HP:0000821 | Hypothyroidism | Occasional (29-5%) |
| HP:0000823 | Delayed puberty | Occasional (29-5%) |
| HP:0001140 | Limbal dermoid | Occasional (29-5%) |
| HP:0001249 | Intellectual disability | Occasional (29-5%) |
| HP:0001274 | Agenesis of corpus callosum | Occasional (29-5%) |
| HP:0001508 | Failure to thrive | Occasional (29-5%) |
| HP:0001631 | Atrial septal defect | Occasional (29-5%) |
| HP:0001636 | Tetralogy of Fallot | Occasional (29-5%) |
| HP:0001641 | Abnormal pulmonary valve morphology | Occasional (29-5%) |
| HP:0001643 | Patent ductus arteriosus | Occasional (29-5%) |
| HP:0001671 | Abnormal cardiac septum morphology | Occasional (29-5%) |
| HP:0001770 | Toe syndactyly | Occasional (29-5%) |
| HP:0002308 | Arnold-Chiari malformation | Occasional (29-5%) |
| HP:0002564 | obsolete Malformation of the heart and great vessels | Occasional (29-5%) |
| HP:0002607 | Bowel incontinence | Occasional (29-5%) |
| HP:0003468 | Abnormal vertebral morphology | Occasional (29-5%) |
| HP:0004322 | Short stature | Occasional (29-5%) |
| HP:0005562 | Multiple renal cysts | Occasional (29-5%) |
| HP:0006824 | Cranial nerve paralysis | Occasional (29-5%) |
| HP:0008736 | Hypoplasia of penis | Occasional (29-5%) |
| HP:0009465 | Ulnar deviation of finger | Occasional (29-5%) |
| HP:0009912 | Abnormality of the tragus | Occasional (29-5%) |
| HP:0009944 | Partial duplication of thumb phalanx | Occasional (29-5%) |
| HP:0010059 | Broad hallux phalanx | Occasional (29-5%) |
| HP:0010331 | Aplasia/Hypoplasia of the 3rd toe | Occasional (29-5%) |
| HP:0010481 | Urethral valve | Occasional (29-5%) |
| HP:0010760 | Absent toe | Occasional (29-5%) |
| HP:0011304 | Broad thumb | Occasional (29-5%) |
| HP:0100559 | Lower limb asymmetry | Occasional (29-5%) |
Total: 11
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0000083 | Renal insufficiency | 1 |
| HP:0000365 | Hearing impairment | 1 |
| HP:0000568 | Microphthalmia | 1 |
| HP:0001545 | Anteriorly placed anus | 1 |
| HP:0002015 | Dysphagia | 1 |
| HP:0002104 | Apnea | 1 |
| HP:0005707 | Bilateral triphalangeal thumbs | 1 |
| HP:0006315 | Single median maxillary incisor | 1 |
| HP:0008572 | External ear malformation | 1 |
| HP:0030676 | Satyr ear | 1 |
| HP:0100258 | Preaxial polydactyly | 1 |