| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 11 (35.3%) |
18813423 |
Townes-Brocks syndrome. A neonate with extended spectrum and thrombocytopenia. Bhat RY, Sen S. Saudi Med J. 2008;29(9):1337-9. |
| Facial palsy | ||
| Homo sapiens Infant, Newborn Male Thrombocytopenia | ||
| 12 (31.0%) |
27073431 (4812390) |
Delayed diagnosis of Townes-Brocks syndrome with multicystic kidneys and renal failure caused by a novel SALL1 nonsense mutation: A case report. Lin FJ, Lu W, Gale D, Yao Y, Zou R, Bian F, Jiang GR. Exp Ther Med. 2016;11(4):1249-1252. |
| External ear malformation Preaxial polydactyly | ||
| SALL1 | ||
| c|SUB|C|874|T p|SUB|Q|292|X | ||
| 12 (31.0%) |
25336016 |
16q12 microdeletion syndrome in two Japanese boys. Morisada N, Sekine T, Ishimori S, Tsuda M, Adachi M, Nozu K, Nakanishi K, Tanaka R, Iijima K. Pediatr Int. 2014;56(5):e75-8. |
| Renal insufficiency Polydactyly | ||
| SALL1 | ||
| Asians Chromosome Aberrations Gene Deletion Homo sapiens Male Syndrome | ||
| 12 (31.0%) |
18280297 |
Two coding single nucleotide polymorphisms in the SALL1 gene in Townes-Brocks syndrome: a case report and review of the literature. Liang Y, Shen D, Cai W. J Pediatr Surg. 2008;43(2):391-3. |
| Preaxial polydactyly | ||
| SALL1 | ||
| c|SUB|C|2574|T;RS#:1965024 g|SUB|G|3823|A;RS#:4614723 rs1965024 rs4614723 | ||
| Anus, Imperforate DNA Mutational Analysis External Ear Follow-Up Studies Forms and Records Control Genetic Code Homo sapiens Infant Limb Deformities, Congenital Male Mutation Polydactyly Single Nucleotide Polymorphism Syndrome | ||
| 12 (31.0%) |
17431915 |
Wide phenotypic variations within a family with SALL1 mutations: Isolated external ear abnormalities to Goldenhar syndrome. Kosaki R, Fujimaru R, Samejima H, Yamada H, Izumi K, Iijima K, Kosaki K. Am J Med Genet A. 2007;143A(10):1087-90. |
| Anteriorly placed anus Preaxial polydactyly | ||
| SALL1 | ||
| c|SUB|T|1256|A;RS#:137853084 p|SUB|L|419|X;RS#:137853084 rs137853084 rs140827311 | ||
| Child, Preschool DNA Mutational Analysis External Ear Family Females Goldenhar Syndrome Homo sapiens Phenotype Point Mutation Sibling | ||
| 12 (31.0%) |
8818947 |
An autosomal dominant syndrome of renal and anogenital malformations with syndactyly. Green AJ, Sandford RN, Davison BC. J Med Genet. 1996;33(7):594-6. |
| Pelvic kidney Syndactyly | ||
| rs63749972 | ||
| Chromosome Aberrations Congenital Abnormality Females Genes, Dominant Genitalia Homo sapiens Infant Kidney Pelvis Syndactyly | ||
| 17 (27.8%) |
23716951 (3656532) |
A new syndrome with overlapping features of Townes-brocks syndrome and single median maxillary central incisor syndrome. Babu TA, Chandrasekaran V, Balachandran S. Indian J Hum Genet. 2012;18(3):366-8. |
| Single median maxillary incisor | ||
| 18 (27.8%) |
7640757 |
[Clinical heterogeneity of Townes-Brocks syndrome]. Parent P, Bensaid M, Le Guern H, Colin A, Broussine L, Chabarot A, Cozic A, Jehannin B, de Parscau L. Arch Pediatr. 1995;2(6):551-4. |
| Pierre-Robin sequence | ||
| Esophageal Atresia External Ear Homo sapiens Infant, Newborn Limb Deformities, Congenital Male Pierre Robin Syndrome Rectum Syndrome Tetralogy of Fallot | ||
| 19 (23.3%) |
17668723 |
Twenty-one-year-old male with congenital anomalies, obstructive uropathy and chronic renal failure: is this a case of Townes Brocks syndrome? Unuigbe EI, Azubike CA, Okaka EI, Osarenkhoe JO, Onuora VC. Niger J Clin Pract. 2007;10(1):91-4. |
| Scoliosis | ||
| Adult Differential Diagnosis Homo sapiens Kidney Kidney Failure, Chronic Male Syndrome Urethral Stenosis | ||
| 20 (4.0%) |
29110636 (5674755) |
Phenotypic and genotypic aspects of Townes-Brock syndrome: case report of patient in southern Brazil with a new SALL1 hotspot region nonsense mutation. Liberalesso PBN, Cordeiro ML, Karuta SCV, Koladicz KRJ, Nitsche A, Zeigelboim BS, Raskin S, Rauchman M. BMC Med Genet. 2017;18(1):125. |
| External ear malformation | ||
| SALL1 | ||
| Anus, Imperforate Brazil Child, Preschool Codon, Nonsense Congenital Heart Defects Differential Diagnosis Esophagus Genetic Predisposition to Disease Genotype Homo sapiens Kidney Limb Deformities, Congenital Male Phenotype Trachea |
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 |