eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | coloboma, ocular |
| Comorbidity | C1535927|charge syndrome |
| Sentences | 5 |
| PubMedID- 24578717 | coloboma in patients with charge syndrome usually involves bilateral choroid, retina, and the optic nerve. |
| PubMedID- 21532774 | charge syndrome, a constellation of anomalies including coloboma of the eye, heart defects including conotruncal and aortic arch malformations, choanal atresia, growth retardation, and ear abnormalities, was recently found to be due to a microdeletion on chromosome 8p21 [42]. |
| PubMedID- 26491485 | But it can also be associated with syndromic hearing loss as in pendred syndrome, branchio-oto-renal syndrome, and charge syndrome (coloboma of the eye, heart defects, atresia of the nasal choanae, retardation of growth and/or development, genital and/or urinary abnormalities, and ear abnormalities and deafness). |
| PubMedID- 22970397 | charge syndrome (coloboma of the eye, heart defects, atresia of the choanae, retardation of growth and development, genital or urinary abnormalities, ear abnormalities or deafness) is a genetic disorder that results from a mutation in the chd7 gene on chromosome 8q12 [1]. |
| PubMedID- 24278672 | Mutations in chd7, a chromeodomain helicase dna binding protein are associated with charge syndrome (coloboma of the eye, heart defects, atresia of the choanae, retardation of growth and/or development, genital and/or urinary abnormalities, and ear abnormalities and deafness) [129]. |
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