| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (52.0%) |
9217229 |
Familial patent ductus arteriosus: a further case of CHAR syndrome. Slavotinek A, Clayton-Smith J, Super M. Am J Med Genet. 1997;71(2):229-32. |
| Short nose Finger clinodactyly | ||
| Craniofacial Abnormalities Females Genes, Dominant Homo sapiens Male Phenotype Polydactyly Syndrome | ||
| 2 (33.7%) |
29683802 |
A study of familial Char syndrome involving the TFAP2B gene with a focus on facial shape characteristics. Nyboe D, Kreiborg S, Darvann T, Duno M, Nissen KR, Hove HB. Clin Dysmorphol. 2018;27(3):71-77. |
| Hypertelorism Short philtrum | ||
| TFAP2B | ||
| c|SUB|T|851|C p|SUB|L|284|S | ||
| Child, Preschool Face Family Females Fingers Homo sapiens Male | ||
| 2 (33.7%) |
1342853 |
Char syndrome (unusual mouth, patent ductus arteriosus, phalangeal anomalies). Temple IK. Clin Dysmorphol. 1992;1(1):17-21. |
| Triangular mouth Short philtrum | ||
| Adult Congenital Hand Deformities Females Homo sapiens Infant Male Mouth Abnormalities Syndrome | ||
| 4 (33.1%) |
31012281 |
A novel missense mutation in TFAP2B associated with Char syndrome and central diabetes insipidus. Edward HL, D'Gama AM, Wojcik MH, Brownstein CA, Kenna MA, Grant PE, Majzoub JA, Agrawal PB. Am J Med Genet A. 2019;179(7):1299-1303. |
| Patent foramen ovale Scoliosis Clinodactyly | ||
| TFAP2B | ||
| c|SUB|C|917|T p|SUB|T|306|M | ||
| Chromosome Aberrations Chromosomes, Human, Pair 1 Chromosomes, Human, Pair 10 Diabetes Insipidus Face Females Fingers Genotype Homo sapiens Missense Mutation Phenotype | ||
| 5 (27.8%) |
28381879 (5537417) |
TFAP2B mutation and dental anomalies. Tanasubsinn N, Sittiwangkul R, Pongprot Y, Kawasaki K, Ohazama A, Sastraruji T, Kaewgahya M, Kantaputra PN. J Hum Genet. 2017;62(8):769-775. |
| Microdontia | ||
| TFAP2B | ||
| c|SUB|G|1006|A;RS#:139339332 p|SUB|V|336|I;RS#:139339332 | ||
| Adult Child, Preschool Congenital Heart Defects DNA Mutational Analysis Face Females Fingers Homo sapiens Incidence Male Mutation Thailand Tooth Abnormalities Young Adult | ||
| 6 (4.0%) |
11102923 |
Char syndrome: an additional family with polythelia, a new finding. Zannolli R, Mostardini R, Matera M, Pucci L, Gelb BD, Morgese G. Am J Med Genet. 2000;95(3):201-3. |
| Strabismus | ||
| Adult Breast Child, Preschool Cytogenetic Analysis Females Homo sapiens Male Nipples Syndrome Toes | ||
| 6 (4.0%) |
10368122 |
Char syndrome, an inherited disorder with patent ductus arteriosus, maps to chromosome 6p12-p21. Satoda M, Pierpont ME, Diaz GA, Bornemeier RA, Gelb BD. Circulation. 1999;99(23):3036-42. |
| Patent ductus arteriosus | ||
| H3F3AP6 | ||
| rs80338914 | ||
| Chromosome Mapping Chromosomes, Human, Pair 6 Congenital Hand Deformities Face Females Genetic Markers Genetic Polymorphism Homo sapiens Male Middle Aged Syndrome |
Total: 28
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000207 | Triangular mouth | Very frequent (99-80%) |
| HP:0000232 | Everted lower lip vermilion | Very frequent (99-80%) |
| HP:0000272 | Malar flattening | Very frequent (99-80%) |
| HP:0000316 | Hypertelorism | Very frequent (99-80%) |
| HP:0000322 | Short philtrum | Very frequent (99-80%) |
| HP:0000457 | Depressed nasal ridge | Very frequent (99-80%) |
| HP:0000494 | Downslanted palpebral fissures | Very frequent (99-80%) |
| HP:0000508 | Ptosis | Very frequent (99-80%) |
| HP:0001643 | Patent ductus arteriosus | Very frequent (99-80%) |
| HP:0005280 | Depressed nasal bridge | Very frequent (99-80%) |
| HP:0012471 | Thick vermilion border | Very frequent (99-80%) |
| HP:0004209 | Clinodactyly of the 5th finger | Frequent (79-30%) |
| HP:0004220 | Short middle phalanx of the 5th finger | Frequent (79-30%) |
| HP:0006159 | Mesoaxial hand polydactyly | Frequent (79-30%) |
| HP:0000269 | Prominent occiput | Occasional (29-5%) |
| HP:0000365 | Hearing impairment | Occasional (29-5%) |
| HP:0000486 | Strabismus | Occasional (29-5%) |
| HP:0000545 | Myopia | Occasional (29-5%) |
| HP:0001161 | Hand polydactyly | Occasional (29-5%) |
| HP:0001263 | Global developmental delay | Occasional (29-5%) |
| HP:0001629 | Ventricular septal defect | Occasional (29-5%) |
| HP:0001770 | Toe syndactyly | Occasional (29-5%) |
| HP:0002360 | Sleep disturbance | Occasional (29-5%) |
| HP:0002558 | Supernumerary nipple | Occasional (29-5%) |
| HP:0004218 | Symphalangism of the 5th finger | Occasional (29-5%) |
| HP:0006335 | Persistence of primary teeth | Occasional (29-5%) |
| HP:0008498 | No permanent dentition | Occasional (29-5%) |
| HP:0010112 | Mesoaxial foot polydactyly | Occasional (29-5%) |
Total: 9
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0001643 | Patent ductus arteriosus | 5 |
| HP:0000316 | Hypertelorism | 1 |
| HP:0000322 | Short philtrum | 1 |
| HP:0000337 | Broad forehead | 1 |
| HP:0000369 | Low-set ears | 1 |
| HP:0000486 | Strabismus | 1 |
| HP:0000668 | Hypodontia | 1 |
| HP:0002558 | Supernumerary nipple | 1 |
| HP:0002650 | Scoliosis | 1 |