| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (58.9%) |
10631923 |
Two cases of Townes-Brocks syndrome. Doray B, Langer B, Stoll C. Genet Couns. 1999;10(4):359-67. |
| Microretrognathia Triphalangeal thumb | ||
| SALL1 | ||
| Adult Angioedema Animals Chromosomes, Human, Pair 16 Deafness Differential Diagnosis External Ear Females Homo sapiens Infant, Newborn Intellectual Disability Male Mutation Syndrome Zinc Fingers | ||
| 2 (57.8%) |
8669439 |
Three-generation family with resemblance to Townes-Brocks syndrome and Goldenhar/oculoauriculovertebral spectrum. Johnson JP, Poskanzer LS, Sherman S. Am J Med Genet. 1996;61(2):134-9. |
| Micrognathia | ||
| Adult Child Dermoid Cyst Females Goldenhar Syndrome Homo sapiens Infant Infant, Newborn Male Middle Aged Syndrome | ||
| 3 (49.0%) |
22903933 |
A novel mutation in the SHH long-range regulator (ZRS) is associated with preaxial polydactyly, triphalangeal thumb, and severe radial ray deficiency. Al-Qattan MM, Al Abdulkareem I, Al Haidan Y, Al Balwi M. Am J Med Genet A. 2012;158A(10):2610-5. |
| Triphalangeal thumb Absent thumb | ||
| SALL1 SALL4 SHH TBX5 | ||
| g|SUB|C|106954|T | ||
| Congenital Hand Deformities Enhancer Elements, Genetic Family Females Hedgehog Proteins Homo sapiens Male Point Mutation Polydactyly | ||
| 4 (35.4%) |
19204018 |
Nephropathy in Townes-Brocks syndrome (SALL1 mutation): imaging and pathological findings in adulthood. Faguer S, Pillet A, Chassaing N, Merhenberger M, Bernadet-Monrozies P, Guitard J, Chauveau D. Nephrol Dial Transplant. 2009;24(4):1341-5. |
| Glomerular sclerosis Triphalangeal thumb | ||
| SALL1 | ||
| Adult Glomerular Filtration Rate Homo sapiens Kidney Failure, Chronic Male Syndrome | ||
| 4 (35.4%) |
14671925 |
[Hearing loss in Townes-Brocks syndrome]. Rodriguez Asensio J, Rodriguez Rosell MV, Ramos Perez A. Acta Otorrinolaringol Esp. 2003;54(7):518-22. |
| Triphalangeal thumb | ||
| Adult Anus, Imperforate Congenital Foot Deformity Congenital Hand Deformities External Ear Females Hearing Loss, Bilateral Homo sapiens Male Syndrome | ||
| 4 (35.4%) |
10654325 |
Townes-Brocks syndrome and renal dysplasia: a novel mutation in the SALL1 gene. Salerno A, Kohlhase J, Kaplan BS. Pediatr Nephrol. 2000;14(1):25-8. |
| Hypospadias Triphalangeal thumb | ||
| SALL1 | ||
| Anus, Imperforate DNA DNA Mutational Analysis Homo sapiens Kidney Failure, Chronic Male Mutation Syndrome | ||
| 4 (35.4%) |
3441436 |
[A triphalangeal thumb associated with otological abnormalities. A new syndrome?]. Raia V, Strisciuglio P, Andolfi M, Paludetto R. Pediatr Med Chir. 1987;9(5):611-2. |
| Triphalangeal thumb | ||
| External Ear Females Homo sapiens Infant, Newborn Syndrome | ||
| 4 (35.4%) |
3180506 |
A new family with the Townes-Brocks syndrome. de Vries-Van der Weerd MA, Willems PJ, Mandema HM, ten Kate LP. Clin Genet. 1988;34(3):195-200. |
| Syndactyly Triphalangeal thumb | ||
| Anus, Imperforate External Ear Homo sapiens Infant Male Syndrome | ||
| 4 (35.4%) |
2279502 |
Townes-Brocks syndrome. Konig R, Schick U, Fuchs S. Eur J Pediatr. 1990;150(2):100-3. |
| Triphalangeal thumb | ||
| Anus, Imperforate External Ear Face Homo sapiens Infant, Newborn Limb Deformities, Congenital Male Syndrome | ||
| 4 (35.4%) |
1640945 |
[Townes-Brocks syndrome. Case report and review of the literature]. Kotzot D, Lorenz P, Bieber A, Grobe H. Monatsschr Kinderheilkd. 1992;140(6):343-5. |
| Bilateral triphalangeal thumbs | ||
| Congenital Foot Deformity Congenital Hand Deformities Congenital Heart Defects Females Fingers Hearing Loss, Bilateral Homo sapiens Infant Infant, Newborn Microcephaly Microphthalmos Syndrome Toes |
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 |